Item | Value |
---|---|
geneid | 2192 |
ensemblid | ENSG00000077942.19 |
hgncid | 3600 |
symbol | FBLN1 |
name | fibulin 1 |
refseq_nuc | NM_006486.3 |
refseq_prot | NP_006477.3 |
ensembl_nuc | ENST00000327858.11 |
ensembl_prot | ENSP00000331544.6 |
mane_status | MANE Select |
chr | chr22 |
start | 45502883 |
end | 45601135 |
strand | + |
ver | v1.2 |
region | chr22:45502883-45601135 |
region5000 | chr22:45497883-45606135 |
regionname0 | FBLN1_chr22_45502883_45601135 |
regionname5000 | FBLN1_chr22_45497883_45606135 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/0 | 703 | 332 | 89 | 59 | 126 | 12 | 45 | 92 | FBLN1_chr22_45497883_45606135 | FBLN1 | MERAA others(698): Show |
chr22 | 45497883 | 45606135 |
a0002 | 0/0 | 703 | 4 | 1 | 2 | 0 | 0 | 1 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | MERAA others(698): Show |
chr22 | 45497883 | 45606135 |
a0003 | 0/0 | 703 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | MERAA others(698): Show |
chr22 | 45497883 | 45606135 |
a0004 | 0/0 | 703 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | MERAA others(698): Show |
chr22 | 45497883 | 45606135 |
a0005 | 0/0 | 703 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | MERAA others(698): Show |
chr22 | 45497883 | 45606135 |
a0006 | 0/0 | 703 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | MERAA others(698): Show |
chr22 | 45497883 | 45606135 |
a0007 | 0/0 | 703 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | MERAA others(698): Show |
chr22 | 45497883 | 45606135 |
a0008 | 0/0 | 703 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | MERAA others(698): Show |
chr22 | 45497883 | 45606135 |
a0009 | 0/1 | 703 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | MERAA others(698): Show |
chr22 | 45497883 | 45606135 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 1/0 | 2109 | 242 | 53 | 41 | 103 | 9 | 35 | FBLN1_chr22_45497883_45606135 | FBLN1 | ATGGA others(2104): Show |
chr22 | 45497883 | 45606135 | ||
a0001c0002 | 0/0 | 2109 | 71 | 21 | 17 | 21 | 3 | 9 | FBLN1_chr22_45497883_45606135 | FBLN1 | ATGGA others(2104): Show |
chr22 | 45497883 | 45606135 | ||
a0001c0004 | 0/0 | 2109 | 3 | 2 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | ATGGA others(2104): Show |
chr22 | 45497883 | 45606135 | ||
a0001c0005 | 0/0 | 2109 | 2 | 2 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | ATGGA others(2104): Show |
chr22 | 45497883 | 45606135 | ||
a0001c0006 | 0/0 | 2109 | 2 | 2 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | ATGGA others(2104): Show |
chr22 | 45497883 | 45606135 | ||
a0001c0008 | 0/0 | 2109 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | ATGGA others(2104): Show |
chr22 | 45497883 | 45606135 | ||
a0001c0009 | 0/0 | 2109 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | ATGGA others(2104): Show |
chr22 | 45497883 | 45606135 | ||
a0001c0012 | 0/0 | 2109 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | ATGGA others(2104): Show |
chr22 | 45497883 | 45606135 | ||
a0001c0013 | 0/0 | 2109 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | ATGGA others(2104): Show |
chr22 | 45497883 | 45606135 | ||
a0001c0014 | 0/0 | 2109 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | ATGGA others(2104): Show |
chr22 | 45497883 | 45606135 | ||
a0001c0015 | 0/0 | 2109 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | ATGGA others(2104): Show |
chr22 | 45497883 | 45606135 | ||
a0001c0017 | 0/0 | 2109 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | ATGGA others(2104): Show |
chr22 | 45497883 | 45606135 | ||
a0001c0018 | 0/0 | 2109 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | ATGGA others(2104): Show |
chr22 | 45497883 | 45606135 | ||
a0001c0020 | 0/0 | 2109 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | ATGGA others(2104): Show |
chr22 | 45497883 | 45606135 | ||
a0001c0021 | 0/0 | 2109 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | ATGGA others(2104): Show |
chr22 | 45497883 | 45606135 | ||
a0001c0022 | 0/0 | 2109 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | ATGGA others(2104): Show |
chr22 | 45497883 | 45606135 | ||
a0001c0024 | 0/0 | 2109 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | ATGGA others(2104): Show |
chr22 | 45497883 | 45606135 | ||
a0002c0003 | 0/0 | 2109 | 4 | 1 | 2 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | ATGGA others(2104): Show |
chr22 | 45497883 | 45606135 | ||
a0003c0025 | 0/0 | 2109 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | ATGGA others(2104): Show |
chr22 | 45497883 | 45606135 | ||
a0003c0026 | 0/0 | 2109 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | ATGGA others(2104): Show |
chr22 | 45497883 | 45606135 | ||
a0003c0027 | 0/0 | 2109 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | ATGGA others(2104): Show |
chr22 | 45497883 | 45606135 | ||
a0004c0007 | 0/0 | 2109 | 2 | 2 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | ATGGA others(2104): Show |
chr22 | 45497883 | 45606135 | ||
a0005c0010 | 0/0 | 2109 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | ATGGA others(2104): Show |
chr22 | 45497883 | 45606135 | ||
a0006c0011 | 0/0 | 2109 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | ATGGA others(2104): Show |
chr22 | 45497883 | 45606135 | ||
a0007c0016 | 0/0 | 2109 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | ATGGA others(2104): Show |
chr22 | 45497883 | 45606135 | ||
a0008c0019 | 0/0 | 2109 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | ATGGA others(2104): Show |
chr22 | 45497883 | 45606135 | ||
a0009c0023 | 0/1 | 2109 | 1 | 0 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | ATGGA others(2104): Show |
chr22 | 45497883 | 45606135 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 1/0 | 2904 | 205 | 30 | 36 | 100 | 7 | 31 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0001c0001t0002 | 0/0 | 2904 | 12 | 8 | 2 | 0 | 0 | 2 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0001c0001t0003 | 0/0 | 2903 | 6 | 4 | 0 | 0 | 2 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2898): Show |
chr22 | 45497883 | 45606135 |
a0001c0001t0004 | 0/0 | 2904 | 5 | 5 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0001c0001t0005 | 0/0 | 2904 | 3 | 0 | 0 | 3 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0001c0001t0006 | 0/0 | 2904 | 2 | 2 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0001c0001t0007 | 0/0 | 2904 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0001c0001t0008 | 0/0 | 2904 | 2 | 0 | 2 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0001c0001t0009 | 0/0 | 2903 | 2 | 2 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2898): Show |
chr22 | 45497883 | 45606135 |
a0001c0001t0010 | 0/0 | 2904 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0001c0001t0011 | 0/0 | 2904 | 2 | 0 | 0 | 0 | 0 | 2 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0001c0001t0012 | 0/0 | 2904 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0001c0002t0001 | 0/0 | 2904 | 54 | 8 | 16 | 18 | 3 | 9 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0001c0002t0002 | 0/0 | 2904 | 7 | 7 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0001c0002t0003 | 0/0 | 2903 | 5 | 4 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2898): Show |
chr22 | 45497883 | 45606135 |
a0001c0002t0005 | 0/0 | 2904 | 2 | 0 | 0 | 2 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0001c0002t0006 | 0/0 | 2904 | 2 | 2 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0001c0002t0010 | 0/0 | 2904 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0001c0004t0001 | 0/0 | 2904 | 3 | 2 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0001c0005t0001 | 0/0 | 2904 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0001c0005t0007 | 0/0 | 2904 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0001c0006t0001 | 0/0 | 2904 | 2 | 2 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0001c0008t0001 | 0/0 | 2904 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0001c0009t0004 | 0/0 | 2904 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0001c0012t0001 | 0/0 | 2904 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0001c0013t0001 | 0/0 | 2904 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0001c0014t0001 | 0/0 | 2904 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0001c0015t0001 | 0/0 | 2904 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0001c0017t0001 | 0/0 | 2904 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0001c0018t0002 | 0/0 | 2904 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0001c0020t0002 | 0/0 | 2904 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0001c0021t0001 | 0/0 | 2904 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0001c0022t0002 | 0/0 | 2904 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0001c0024t0001 | 0/0 | 2904 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0002c0003t0001 | 0/0 | 2904 | 4 | 1 | 2 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0003c0025t0003 | 0/0 | 2903 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2898): Show |
chr22 | 45497883 | 45606135 |
a0003c0026t0001 | 0/0 | 2904 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0003c0027t0001 | 0/0 | 2904 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0004c0007t0001 | 0/0 | 2904 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0004c0007t0002 | 0/0 | 2904 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0005c0010t0002 | 0/0 | 2904 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0006c0011t0002 | 0/0 | 2904 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0007c0016t0001 | 0/0 | 2904 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0008c0019t0007 | 0/0 | 2904 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
a0009c0023t0001 | 0/1 | 2904 | 1 | 0 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | GTTGG others(2899): Show |
chr22 | 45497883 | 45606135 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0001 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0013 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0026 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0027 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0045 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0049 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0053 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0057 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0059 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0082 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0099 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0102 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0107 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0108 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0115 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0122 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0124 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0139 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0140 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0144 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0145 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0147 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0154 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0174 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0176 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0177 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0178 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0179 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0181 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0183 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0184 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0194 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0207 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0208 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0215 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0217 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0221 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0223 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0232 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0238 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0239 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0243 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0245 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0246 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0247 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0248 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0249 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0250 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0253 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0254 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0255 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0256 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0257 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0261 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0263 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0271 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0272 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0276 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0278 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0281 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0285 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0286 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0287 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0288 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0289 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0291 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0292 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0293 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0294 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0295 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0296 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0297 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0298 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0299 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0301 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0302 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0307 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0309 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0310 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0312 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0319 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0320 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0321 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0322 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0323 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0330 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0331 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0332 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0338 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0340 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0341 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0342 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0343 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0001g0344 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0002g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0002g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0002g0094 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0002g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0002g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0002g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0002g0222 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0002g0270 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0002g0275 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0002g0308 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0002g0318 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0002g0334 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0003g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0003g0148 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0003g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0003g0209 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0003g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0003g0303 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0004g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0004g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0004g0197 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0004g0306 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0004g0345 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0005g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0005g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0005g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0006g0305 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0006g0324 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0007g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0008g0205 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0008g0333 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0009g0251 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0009g0279 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0010g0206 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0011g0015 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0011g0060 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0001t0012g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0002 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0016 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0028 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0054 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0092 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0127 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0151 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0152 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0153 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0165 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0173 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0203 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0224 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0228 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0240 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0241 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0252 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0258 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0259 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0262 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0264 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0265 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0267 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0269 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0273 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0280 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0282 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0283 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0284 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0290 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0311 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0315 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0001g0336 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0002g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0002g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0002g0274 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0002g0304 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0002g0314 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0002g0317 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0002g0335 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0003g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0003g0266 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0003g0326 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0003g0327 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0003g0329 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0005g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0005g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0006g0328 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0006g0337 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0002t0010g0260 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0004t0001g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0004t0001g0316 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0004t0001g0339 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0005t0001g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0005t0007g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0006t0001g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0006t0001g0313 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0008t0001g0088 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0009t0004g0180 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0012t0001g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0013t0001g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0014t0001g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0015t0001g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0017t0001g0300 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0018t0002g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0020t0002g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0021t0001g0325 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0022t0002g0268 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0001c0024t0001g0191 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0002c0003t0001g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0002c0003t0001g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0002c0003t0001g0200 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0002c0003t0001g0277 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0003c0025t0003g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0003c0026t0001g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0003c0027t0001g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0004c0007t0001g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0004c0007t0002g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0005c0010t0002g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0006c0011t0002g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0007c0016t0001g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0008c0019t0007g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
a0009c0023t0001g0063 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00140 | hp1 | a0001 | c0001 | t0001 | g0154 | EUR | GBR | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG00140 | hp2 | a0001 | c0001 | t0001 | g0027 | EUR | GBR | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG00280 | hp1 | a0001 | c0002 | t0001 | g0028 | EUR | FIN | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG00280 | hp2 | a0001 | c0002 | t0001 | g0153 | EUR | FIN | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG00323 | hp1 | a0001 | c0002 | t0001 | g0262 | EUR | FIN | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG00323 | hp2 | a0001 | c0001 | t0001 | g0208 | EUR | FIN | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG00408 | hp1 | a0001 | c0001 | t0001 | g0213 | EAS | CHS | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG00408 | hp2 | a0001 | c0001 | t0001 | g0081 | EAS | CHS | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG00423 | hp1 | a0001 | c0001 | t0001 | g0182 | EAS | CHS | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG00423 | hp2 | a0001 | c0001 | t0001 | g0130 | EAS | CHS | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG00438 | hp1 | a0001 | c0004 | t0001 | g0123 | EAS | CHS | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG00438 | hp2 | a0001 | c0001 | t0001 | g0047 | EAS | CHS | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG00544 | hp1 | a0001 | c0001 | t0001 | g0135 | EAS | CHS | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG00544 | hp2 | a0001 | c0001 | t0001 | g0064 | EAS | CHS | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG00558 | hp1 | a0001 | c0001 | t0001 | g0287 | EAS | CHS | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG00558 | hp2 | a0001 | c0001 | t0001 | g0263 | EAS | CHS | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG00597 | hp1 | a0001 | c0001 | t0001 | g0188 | EAS | CHS | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG00597 | hp2 | a0001 | c0001 | t0001 | g0090 | EAS | CHS | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG00609 | hp1 | a0001 | c0001 | t0001 | g0075 | EAS | CHS | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG00609 | hp2 | a0001 | c0002 | t0001 | g0007 | EAS | CHS | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG00639 | hp1 | a0001 | c0001 | t0001 | g0009 | AMR | PUR | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG00639 | hp2 | a0001 | c0001 | t0001 | g0174 | AMR | PUR | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG00642 | hp1 | a0001 | c0001 | t0001 | g0215 | AMR | PUR | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG00642 | hp2 | a0001 | c0001 | t0001 | g0072 | AMR | PUR | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG00673 | hp1 | a0001 | c0002 | t0001 | g0155 | EAS | CHS | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG00673 | hp2 | a0001 | c0002 | t0001 | g0214 | EAS | CHS | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG00735 | hp1 | a0001 | c0002 | t0001 | g0165 | AMR | PUR | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG00735 | hp2 | a0001 | c0002 | t0001 | g0002 | AMR | PUR | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG00738 | hp1 | a0001 | c0002 | t0001 | g0010 | AMR | PUR | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG00738 | hp2 | a0001 | c0001 | t0001 | g0281 | AMR | PUR | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG00741 | hp1 | a0001 | c0001 | t0001 | g0319 | AMR | PUR | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG00741 | hp2 | a0001 | c0002 | t0001 | g0282 | AMR | PUR | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01069 | hp1 | a0001 | c0001 | t0001 | g0124 | AMR | PUR | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01069 | hp2 | a0001 | c0002 | t0001 | g0012 | AMR | PUR | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01071 | hp1 | a0001 | c0001 | t0001 | g0093 | AMR | PUR | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01071 | hp2 | a0001 | c0002 | t0001 | g0011 | AMR | PUR | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01081 | hp1 | a0001 | c0001 | t0001 | g0299 | AMR | PUR | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01081 | hp2 | a0001 | c0001 | t0001 | g0147 | AMR | PUR | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01099 | hp1 | a0001 | c0001 | t0008 | g0205 | AMR | PUR | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01099 | hp2 | a0001 | c0002 | t0001 | g0109 | AMR | PUR | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01106 | hp1 | a0001 | c0001 | t0001 | g0321 | AMR | PUR | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01106 | hp2 | a0001 | c0001 | t0001 | g0310 | AMR | PUR | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01109 | hp1 | a0001 | c0002 | t0001 | g0311 | AMR | PUR | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01109 | hp2 | a0001 | c0001 | t0008 | g0333 | AMR | PUR | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01167 | hp1 | a0001 | c0002 | t0001 | g0241 | AMR | PUR | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01167 | hp2 | a0001 | c0001 | t0001 | g0119 | AMR | PUR | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01169 | hp1 | a0001 | c0002 | t0001 | g0240 | AMR | PUR | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01169 | hp2 | a0001 | c0002 | t0001 | g0283 | AMR | PUR | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01175 | hp1 | a0001 | c0002 | t0001 | g0127 | AMR | PUR | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01175 | hp2 | a0002 | c0003 | t0001 | g0200 | AMR | PUR | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01192 | hp1 | a0001 | c0001 | t0001 | g0250 | AMR | PUR | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01192 | hp2 | a0001 | c0001 | t0001 | g0207 | AMR | PUR | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01243 | hp1 | a0001 | c0001 | t0001 | g0115 | AMR | PUR | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01243 | hp2 | a0001 | c0002 | t0001 | g0016 | AMR | PUR | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01255 | hp1 | a0002 | c0003 | t0001 | g0074 | AMR | CLM | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01255 | hp2 | a0001 | c0001 | t0001 | g0061 | AMR | CLM | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01256 | hp1 | a0001 | c0001 | t0001 | g0031 | AMR | CLM | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01256 | hp2 | a0001 | c0001 | t0001 | g0149 | AMR | CLM | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01257 | hp1 | a0001 | c0001 | t0001 | g0296 | AMR | CLM | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01257 | hp2 | a0001 | c0001 | t0010 | g0206 | AMR | CLM | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01258 | hp1 | a0001 | c0001 | t0001 | g0295 | AMR | CLM | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01258 | hp2 | a0001 | c0001 | t0001 | g0020 | AMR | CLM | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01261 | hp1 | a0001 | c0002 | t0001 | g0284 | AMR | CLM | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01261 | hp2 | a0001 | c0001 | t0001 | g0342 | AMR | CLM | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01358 | hp1 | a0001 | c0001 | t0001 | g0238 | AMR | CLM | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01358 | hp2 | a0001 | c0001 | t0001 | g0108 | AMR | CLM | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01361 | hp1 | a0001 | c0001 | t0001 | g0179 | AMR | CLM | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01361 | hp2 | a0001 | c0002 | t0001 | g0175 | AMR | CLM | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01433 | hp1 | a0001 | c0002 | t0010 | g0260 | AMR | CLM | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01433 | hp2 | a0005 | c0010 | t0002 | g0190 | AMR | CLM | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01496 | hp1 | a0001 | c0001 | t0002 | g0308 | AMR | CLM | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01496 | hp2 | a0001 | c0001 | t0001 | g0022 | AMR | CLM | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01515 | hp1 | a0001 | c0001 | t0003 | g0148 | EUR | IBS | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01515 | hp2 | a0001 | c0001 | t0003 | g0209 | EUR | IBS | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01516 | hp1 | a0001 | c0001 | t0001 | g0261 | EUR | IBS | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01516 | hp2 | a0001 | c0001 | t0001 | g0107 | EUR | IBS | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01884 | hp1 | a0001 | c0021 | t0001 | g0325 | AFR | ACB | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01884 | hp2 | a0001 | c0001 | t0001 | g0189 | AFR | ACB | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01891 | hp1 | a0001 | c0001 | t0012 | g0199 | AFR | ACB | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01891 | hp2 | a0001 | c0001 | t0002 | g0318 | AFR | ACB | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01928 | hp1 | a0001 | c0001 | t0001 | g0298 | AMR | PEL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01928 | hp2 | a0001 | c0001 | t0001 | g0288 | AMR | PEL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01943 | hp1 | a0001 | c0001 | t0001 | g0194 | AMR | PEL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01943 | hp2 | a0001 | c0001 | t0002 | g0334 | AMR | PEL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01981 | hp1 | a0001 | c0001 | t0001 | g0249 | AMR | PEL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01981 | hp2 | a0001 | c0001 | t0001 | g0221 | AMR | PEL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01993 | hp1 | a0001 | c0001 | t0001 | g0217 | AMR | PEL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01993 | hp2 | a0001 | c0001 | t0001 | g0030 | AMR | PEL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02027 | hp1 | a0001 | c0002 | t0001 | g0172 | EAS | KHV | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02027 | hp2 | a0001 | c0001 | t0001 | g0171 | EAS | KHV | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02040 | hp1 | a0001 | c0001 | t0001 | g0066 | EAS | KHV | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02040 | hp2 | a0001 | c0001 | t0001 | g0212 | EAS | KHV | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02055 | hp1 | a0003 | c0026 | t0001 | g0003 | AFR | ACB | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02055 | hp2 | a0001 | c0001 | t0001 | g0069 | AFR | ACB | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02071 | hp1 | a0001 | c0020 | t0002 | g0156 | EAS | KHV | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02071 | hp2 | a0001 | c0001 | t0001 | g0164 | EAS | KHV | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02080 | hp1 | a0001 | c0001 | t0001 | g0186 | EAS | KHV | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02080 | hp2 | a0001 | c0001 | t0001 | g0143 | EAS | KHV | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02129 | hp1 | a0001 | c0001 | t0001 | g0137 | EAS | KHV | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02129 | hp2 | a0001 | c0001 | t0001 | g0138 | EAS | KHV | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02132 | hp1 | a0001 | c0001 | t0001 | g0185 | EAS | KHV | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02132 | hp2 | a0001 | c0002 | t0001 | g0242 | EAS | KHV | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02145 | hp1 | a0001 | c0012 | t0001 | g0070 | AFR | ACB | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02145 | hp2 | a0001 | c0002 | t0001 | g0290 | AFR | ACB | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02155 | hp1 | a0001 | c0001 | t0001 | g0038 | EAS | CDX | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02155 | hp2 | a0001 | c0001 | t0001 | g0157 | EAS | CDX | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02165 | hp1 | a0001 | c0001 | t0001 | g0297 | EAS | CDX | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02165 | hp2 | a0001 | c0001 | t0001 | g0129 | EAS | CDX | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02257 | hp1 | a0002 | c0003 | t0001 | g0062 | AFR | ACB | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02257 | hp2 | a0001 | c0004 | t0001 | g0339 | AFR | ACB | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02258 | hp1 | a0004 | c0007 | t0002 | g0084 | AFR | ACB | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02258 | hp2 | a0001 | c0001 | t0006 | g0305 | AFR | ACB | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02280 | hp1 | a0001 | c0001 | t0001 | g0340 | AFR | ACB | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02280 | hp2 | a0001 | c0002 | t0001 | g0269 | AFR | ACB | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02293 | hp1 | a0001 | c0001 | t0001 | g0029 | AMR | PEL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02293 | hp2 | a0001 | c0017 | t0001 | g0300 | AMR | PEL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02451 | hp1 | a0001 | c0001 | t0001 | g0025 | AFR | ACB | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02451 | hp2 | a0001 | c0002 | t0001 | g0273 | AFR | ACB | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02572 | hp1 | a0001 | c0024 | t0001 | g0191 | AFR | GWD | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02572 | hp2 | a0001 | c0001 | t0001 | g0323 | AFR | GWD | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02602 | hp1 | a0001 | c0001 | t0001 | g0245 | SAS | PJL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02602 | hp2 | a0001 | c0001 | t0001 | g0301 | SAS | PJL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02615 | hp1 | a0001 | c0001 | t0006 | g0324 | AFR | GWD | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02615 | hp2 | a0001 | c0001 | t0001 | g0338 | AFR | GWD | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02622 | hp1 | a0001 | c0002 | t0001 | g0202 | AFR | GWD | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02622 | hp2 | a0001 | c0005 | t0007 | g0085 | AFR | GWD | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02630 | hp1 | a0001 | c0001 | t0001 | g0312 | AFR | GWD | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02630 | hp2 | a0001 | c0001 | t0001 | g0332 | AFR | GWD | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02647 | hp1 | a0001 | c0001 | t0001 | g0344 | AFR | GWD | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02647 | hp2 | a0004 | c0007 | t0001 | g0083 | AFR | GWD | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02683 | hp1 | a0001 | c0022 | t0002 | g0268 | SAS | PJL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02683 | hp2 | a0001 | c0001 | t0001 | g0122 | SAS | PJL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02698 | hp1 | a0001 | c0001 | t0002 | g0094 | SAS | PJL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02698 | hp2 | a0001 | c0002 | t0001 | g0280 | SAS | PJL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02717 | hp1 | a0001 | c0002 | t0002 | g0304 | AFR | GWD | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02717 | hp2 | a0001 | c0001 | t0001 | g0278 | AFR | GWD | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02723 | hp1 | a0001 | c0001 | t0004 | g0112 | AFR | GWD | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02723 | hp2 | a0001 | c0001 | t0003 | g0303 | AFR | GWD | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02735 | hp1 | a0001 | c0001 | t0001 | g0178 | SAS | PJL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02735 | hp2 | a0001 | c0001 | t0001 | g0026 | SAS | PJL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02738 | hp1 | a0001 | c0001 | t0001 | g0053 | SAS | PJL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02738 | hp2 | a0001 | c0001 | t0001 | g0177 | SAS | PJL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02809 | hp1 | a0001 | c0008 | t0001 | g0088 | AFR | GWD | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02809 | hp2 | a0001 | c0015 | t0001 | g0196 | AFR | GWD | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02818 | hp1 | a0001 | c0001 | t0001 | g0330 | AFR | GWD | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02818 | hp2 | a0001 | c0001 | t0001 | g0257 | AFR | GWD | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02886 | hp1 | a0001 | c0009 | t0004 | g0180 | AFR | GWD | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02886 | hp2 | a0001 | c0001 | t0004 | g0345 | AFR | GWD | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02896 | hp1 | a0001 | c0018 | t0002 | g0095 | AFR | GWD | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02896 | hp2 | a0001 | c0002 | t0003 | g0327 | AFR | GWD | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02897 | hp1 | a0001 | c0002 | t0003 | g0326 | AFR | GWD | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02897 | hp2 | a0001 | c0001 | t0003 | g0198 | AFR | GWD | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02922 | hp1 | a0001 | c0001 | t0001 | g0195 | AFR | ESN | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02922 | hp2 | a0001 | c0001 | t0003 | g0230 | AFR | ESN | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02965 | hp1 | a0001 | c0006 | t0001 | g0192 | AFR | ESN | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02965 | hp2 | a0001 | c0001 | t0001 | g0106 | AFR | ESN | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02970 | hp1 | a0001 | c0002 | t0001 | g0315 | AFR | ESN | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02970 | hp2 | a0001 | c0001 | t0002 | g0201 | AFR | ESN | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02976 | hp1 | a0001 | c0002 | t0006 | g0328 | AFR | ESN | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02976 | hp2 | a0001 | c0001 | t0002 | g0096 | AFR | ESN | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03017 | hp1 | a0001 | c0002 | t0001 | g0173 | SAS | PJL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03017 | hp2 | a0001 | c0001 | t0001 | g0302 | SAS | PJL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03041 | hp1 | a0003 | c0025 | t0003 | g0004 | AFR | GWD | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03041 | hp2 | a0001 | c0002 | t0002 | g0274 | AFR | GWD | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03098 | hp1 | a0001 | c0001 | t0001 | g0184 | AFR | MSL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03098 | hp2 | a0001 | c0001 | t0002 | g0073 | AFR | MSL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03130 | hp1 | a0001 | c0004 | t0001 | g0316 | AFR | ESN | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03130 | hp2 | a0001 | c0001 | t0003 | g0098 | AFR | ESN | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03139 | hp1 | a0001 | c0002 | t0001 | g0203 | AFR | ESN | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03139 | hp2 | a0001 | c0001 | t0001 | g0018 | AFR | ESN | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03195 | hp1 | a0001 | c0001 | t0001 | g0071 | AFR | ESN | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03195 | hp2 | a0001 | c0002 | t0001 | g0080 | AFR | ESN | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03209 | hp1 | a0001 | c0001 | t0004 | g0197 | AFR | MSL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03209 | hp2 | a0001 | c0001 | t0001 | g0322 | AFR | MSL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03225 | hp1 | a0001 | c0014 | t0001 | g0116 | AFR | MSL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03225 | hp2 | a0001 | c0002 | t0002 | g0105 | AFR | MSL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03453 | hp1 | a0001 | c0002 | t0002 | g0317 | AFR | MSL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03453 | hp2 | a0003 | c0027 | t0001 | g0005 | AFR | MSL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03486 | hp1 | a0001 | c0001 | t0001 | g0307 | AFR | MSL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03486 | hp2 | a0001 | c0001 | t0001 | g0104 | AFR | MSL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03490 | hp1 | a0001 | c0002 | t0001 | g0054 | SAS | PJL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03490 | hp2 | a0001 | c0001 | t0001 | g0246 | SAS | PJL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03491 | hp1 | a0001 | c0001 | t0001 | g0248 | SAS | PJL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03491 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03492 | hp1 | a0001 | c0001 | t0001 | g0247 | SAS | PJL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03492 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03516 | hp1 | a0001 | c0002 | t0003 | g0329 | AFR | ESN | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03516 | hp2 | a0001 | c0006 | t0001 | g0313 | AFR | ESN | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03540 | hp1 | a0001 | c0001 | t0009 | g0279 | AFR | GWD | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03540 | hp2 | a0001 | c0002 | t0001 | g0336 | AFR | GWD | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03579 | hp1 | a0001 | c0001 | t0007 | g0103 | AFR | MSL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03579 | hp2 | a0001 | c0002 | t0002 | g0314 | AFR | MSL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03654 | hp1 | a0001 | c0001 | t0001 | g0140 | SAS | PJL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03654 | hp2 | a0001 | c0001 | t0001 | g0285 | SAS | PJL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03669 | hp1 | a0001 | c0002 | t0001 | g0151 | SAS | PJL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03669 | hp2 | a0001 | c0002 | t0001 | g0259 | SAS | PJL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03688 | hp1 | a0001 | c0001 | t0001 | g0176 | SAS | STU | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03688 | hp2 | a0001 | c0001 | t0001 | g0144 | SAS | STU | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03704 | hp1 | a0001 | c0002 | t0001 | g0258 | SAS | PJL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03704 | hp2 | a0001 | c0001 | t0001 | g0082 | SAS | PJL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03710 | hp1 | a0001 | c0001 | t0001 | g0183 | SAS | PJL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03710 | hp2 | a0001 | c0001 | t0001 | g0057 | SAS | PJL | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03831 | hp1 | a0001 | c0001 | t0001 | g0049 | SAS | BEB | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03831 | hp2 | a0001 | c0001 | t0001 | g0099 | SAS | BEB | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03834 | hp1 | a0001 | c0002 | t0001 | g0169 | SAS | BEB | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03834 | hp2 | a0001 | c0002 | t0001 | g0152 | SAS | BEB | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03927 | hp1 | a0001 | c0001 | t0002 | g0275 | SAS | BEB | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03927 | hp2 | a0001 | c0001 | t0001 | g0045 | SAS | BEB | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03942 | hp1 | a0001 | c0001 | t0001 | g0102 | SAS | BEB | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG03942 | hp2 | a0001 | c0001 | t0001 | g0052 | SAS | BEB | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG04115 | hp1 | a0001 | c0001 | t0001 | g0276 | SAS | STU | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG04115 | hp2 | a0001 | c0001 | t0001 | g0013 | SAS | STU | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG04184 | hp1 | a0001 | c0001 | t0001 | g0139 | SAS | BEB | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG04184 | hp2 | a0001 | c0001 | t0001 | g0145 | SAS | BEB | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG04199 | hp1 | a0001 | c0001 | t0011 | g0060 | SAS | STU | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG04199 | hp2 | a0002 | c0003 | t0001 | g0277 | SAS | STU | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG04204 | hp1 | a0001 | c0001 | t0001 | g0059 | SAS | STU | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG04204 | hp2 | a0001 | c0002 | t0001 | g0092 | SAS | STU | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG04228 | hp1 | a0001 | c0001 | t0011 | g0015 | SAS | STU | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG04228 | hp2 | a0001 | c0001 | t0001 | g0243 | SAS | STU | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18522 | hp1 | a0001 | c0001 | t0001 | g0331 | AFR | YRI | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18522 | hp2 | a0001 | c0002 | t0006 | g0337 | AFR | YRI | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18612 | hp1 | a0001 | c0001 | t0001 | g0136 | EAS | CHB | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18612 | hp2 | a0001 | c0001 | t0001 | g0141 | EAS | CHB | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18906 | hp1 | a0001 | c0001 | t0001 | g0309 | AFR | YRI | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18906 | hp2 | a0001 | c0001 | t0001 | g0113 | AFR | YRI | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18942 | hp1 | a0001 | c0001 | t0001 | g0101 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18942 | hp2 | a0001 | c0001 | t0001 | g0239 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18944 | hp1 | a0001 | c0001 | t0001 | g0051 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18944 | hp2 | a0001 | c0001 | t0001 | g0293 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18945 | hp1 | a0001 | c0001 | t0001 | g0158 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18945 | hp2 | a0001 | c0001 | t0001 | g0079 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18948 | hp1 | a0001 | c0001 | t0001 | g0035 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18948 | hp2 | a0001 | c0001 | t0001 | g0055 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18950 | hp1 | a0001 | c0001 | t0005 | g0034 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18950 | hp2 | a0001 | c0001 | t0005 | g0097 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18957 | hp1 | a0001 | c0002 | t0001 | g0224 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18957 | hp2 | a0001 | c0002 | t0001 | g0211 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18959 | hp1 | a0001 | c0001 | t0001 | g0256 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18959 | hp2 | a0001 | c0001 | t0001 | g0118 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18964 | hp1 | a0001 | c0001 | t0001 | g0294 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18964 | hp2 | a0001 | c0001 | t0005 | g0226 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18966 | hp1 | a0001 | c0001 | t0001 | g0272 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18966 | hp2 | a0001 | c0002 | t0001 | g0040 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18967 | hp1 | a0001 | c0002 | t0005 | g0043 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18967 | hp2 | a0001 | c0001 | t0001 | g0161 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18968 | hp1 | a0001 | c0001 | t0001 | g0132 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18968 | hp2 | a0001 | c0001 | t0001 | g0244 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18970 | hp1 | a0001 | c0002 | t0001 | g0265 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18970 | hp2 | a0001 | c0001 | t0001 | g0021 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18971 | hp1 | a0001 | c0001 | t0001 | g0286 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18971 | hp2 | a0001 | c0002 | t0001 | g0228 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18974 | hp1 | a0001 | c0001 | t0001 | g0166 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18974 | hp2 | a0001 | c0001 | t0001 | g0019 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18975 | hp1 | a0006 | c0011 | t0002 | g0237 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18975 | hp2 | a0007 | c0016 | t0001 | g0046 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18983 | hp1 | a0001 | c0001 | t0001 | g0125 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18983 | hp2 | a0001 | c0001 | t0001 | g0234 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18986 | hp1 | a0001 | c0001 | t0001 | g0131 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18986 | hp2 | a0001 | c0001 | t0001 | g0117 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18988 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18988 | hp2 | a0001 | c0002 | t0001 | g0065 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18989 | hp1 | a0001 | c0002 | t0001 | g0039 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18989 | hp2 | a0001 | c0001 | t0001 | g0121 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18990 | hp1 | a0001 | c0001 | t0001 | g0223 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18990 | hp2 | a0001 | c0001 | t0001 | g0160 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18991 | hp1 | a0001 | c0002 | t0001 | g0264 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18991 | hp2 | a0001 | c0001 | t0001 | g0168 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18993 | hp1 | a0001 | c0001 | t0001 | g0128 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18993 | hp2 | a0001 | c0001 | t0001 | g0232 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18994 | hp1 | a0001 | c0001 | t0001 | g0042 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18994 | hp2 | a0001 | c0001 | t0001 | g0036 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18995 | hp1 | a0001 | c0001 | t0001 | g0231 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA18995 | hp2 | a0001 | c0001 | t0001 | g0044 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19000 | hp1 | a0001 | c0001 | t0001 | g0253 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19000 | hp2 | a0001 | c0001 | t0001 | g0187 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19003 | hp1 | a0001 | c0001 | t0001 | g0236 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19003 | hp2 | a0001 | c0001 | t0001 | g0048 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19004 | hp1 | a0001 | c0001 | t0001 | g0216 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19004 | hp2 | a0001 | c0001 | t0001 | g0076 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19005 | hp1 | a0001 | c0001 | t0001 | g0077 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19005 | hp2 | a0001 | c0001 | t0001 | g0219 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19007 | hp1 | a0001 | c0001 | t0001 | g0225 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19007 | hp2 | a0001 | c0001 | t0001 | g0142 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19010 | hp1 | a0001 | c0002 | t0001 | g0267 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19010 | hp2 | a0001 | c0002 | t0001 | g0067 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19030 | hp1 | a0001 | c0001 | t0002 | g0222 | AFR | LWK | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19030 | hp2 | a0001 | c0002 | t0003 | g0110 | AFR | LWK | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19043 | hp1 | a0001 | c0013 | t0001 | g0204 | AFR | LWK | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19043 | hp2 | a0001 | c0005 | t0001 | g0087 | AFR | LWK | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19056 | hp1 | a0001 | c0001 | t0001 | g0254 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19056 | hp2 | a0001 | c0001 | t0001 | g0050 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19060 | hp1 | a0001 | c0001 | t0001 | g0023 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19060 | hp2 | a0001 | c0001 | t0001 | g0033 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19062 | hp1 | a0001 | c0001 | t0001 | g0291 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19062 | hp2 | a0001 | c0001 | t0001 | g0120 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19063 | hp1 | a0001 | c0001 | t0001 | g0167 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19063 | hp2 | a0001 | c0001 | t0001 | g0024 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19064 | hp1 | a0001 | c0001 | t0001 | g0227 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19064 | hp2 | a0001 | c0001 | t0001 | g0162 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19066 | hp1 | a0001 | c0001 | t0001 | g0233 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19066 | hp2 | a0001 | c0001 | t0001 | g0292 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19068 | hp1 | a0001 | c0001 | t0001 | g0126 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19068 | hp2 | a0001 | c0001 | t0001 | g0078 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19074 | hp1 | a0001 | c0002 | t0005 | g0032 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19074 | hp2 | a0001 | c0001 | t0001 | g0255 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19077 | hp1 | a0001 | c0002 | t0003 | g0266 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19077 | hp2 | a0001 | c0001 | t0001 | g0235 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19079 | hp1 | a0001 | c0002 | t0001 | g0229 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19079 | hp2 | a0001 | c0001 | t0001 | g0210 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19080 | hp1 | a0001 | c0002 | t0001 | g0041 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19080 | hp2 | a0001 | c0001 | t0001 | g0133 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19084 | hp1 | a0001 | c0001 | t0001 | g0146 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19084 | hp2 | a0001 | c0001 | t0001 | g0134 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19085 | hp1 | a0001 | c0001 | t0001 | g0091 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19085 | hp2 | a0001 | c0001 | t0001 | g0163 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19086 | hp1 | a0001 | c0002 | t0001 | g0252 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19086 | hp2 | a0001 | c0001 | t0001 | g0100 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19087 | hp1 | a0001 | c0001 | t0001 | g0220 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19087 | hp2 | a0001 | c0001 | t0001 | g0056 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19090 | hp1 | a0001 | c0001 | t0001 | g0218 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19090 | hp2 | a0001 | c0001 | t0001 | g0170 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19091 | hp1 | a0001 | c0001 | t0001 | g0037 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19091 | hp2 | a0001 | c0001 | t0001 | g0159 | EAS | JPT | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19240 | hp1 | a0001 | c0001 | t0001 | g0089 | AFR | YRI | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA19240 | hp2 | a0001 | c0001 | t0004 | g0306 | AFR | YRI | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA20129 | hp1 | a0008 | c0019 | t0007 | g0111 | AFR | ASW | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA20129 | hp2 | a0001 | c0001 | t0002 | g0114 | AFR | ASW | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA20752 | hp1 | a0001 | c0001 | t0001 | g0271 | EUR | TSI | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA20752 | hp2 | a0001 | c0001 | t0001 | g0150 | EUR | TSI | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01123 | hp1 | a0001 | c0002 | t0001 | g0008 | AMR | CLM | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG01123 | hp2 | a0001 | c0001 | t0001 | g0289 | AMR | CLM | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02109 | hp1 | a0001 | c0001 | t0004 | g0086 | AFR | ACB | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02109 | hp2 | a0001 | c0001 | t0002 | g0058 | AFR | ACB | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02486 | hp1 | a0001 | c0002 | t0002 | g0335 | AFR | ACB | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02486 | hp2 | a0001 | c0001 | t0002 | g0270 | AFR | ACB | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02559 | hp1 | a0001 | c0002 | t0002 | g0017 | AFR | ACB | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG02559 | hp2 | a0001 | c0001 | t0009 | g0251 | AFR | ACB | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG06807 | hp1 | a0001 | c0001 | t0001 | g0343 | AFR | USA | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
HG06807 | hp2 | a0001 | c0001 | t0001 | g0014 | AFR | USA | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA20300 | hp1 | a0001 | c0001 | t0001 | g0193 | AFR | USA | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA20300 | hp2 | a0001 | c0001 | t0001 | g0068 | AFR | USA | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA21309 | hp1 | a0001 | c0001 | t0001 | g0320 | AFR | LWK | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
NA21309 | hp2 | a0001 | c0001 | t0001 | g0341 | AFR | LWK | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
homoSapiens | chm13v2 | a0009 | c0023 | t0001 | g0063 | REF | REF | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0181 | REF | REF | FBLN1_chr22_45497883_45606135 | FBLN1 | chr22 | 45497883 | 45606135 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr22:45503047 | C | T | 1 | a0004 | 2 | HG02258.hp1 HG02647.hp2 |
missense_variant | MODERATE | c.62C>T | p.Ala21Val | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/17 | 165/2904 | 62/2112 | 21/703 | chr22 | 45503047 | |||
chr22:45503059 | C | T | 1 | a0003 | 3 | HG02055.hp1 HG03041.hp1 HG03453.hp2 |
missense_variant | MODERATE | c.74C>T | p.Ala25Val | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/17 | 177/2904 | 74/2112 | 25/703 | chr22 | 45503059 | |||
chr22:45542208 | G | A | 1 | a0005 | 1 | HG01433.hp2 | missense_variant | MODERATE | c.1120G>A | p.Val374Met | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 10/17 | 1223/2904 | 1120/2112 | 374/703 | chr22 | 45542208 | |||
chr22:45548615 | A | T | 1 | a0007 | 1 | NA18975.hp2 | missense_variant&splice_region_variant | MODERATE | c.1444A>T | p.Ile482Phe | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 13/17 | 1547/2904 | 1444/2112 | 482/703 | chr22 | 45548615 | |||
chr22:45548627 | G | A | 1 | a0006 | 1 | NA18975.hp1 | missense_variant | MODERATE | c.1456G>A | p.Ala486Thr | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 13/17 | 1559/2904 | 1456/2112 | 486/703 | chr22 | 45548627 | |||
chr22:45550608 | G | A | 1 | a0008 | 1 | NA20129.hp1 | missense_variant | MODERATE | c.1690G>A | p.Ala564Thr | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/17 | 1793/2904 | 1690/2112 | 564/703 | chr22 | 45550608 | |||
chr22:45600418 | A | G | 1 | a0002 | 4 | HG01175.hp2 HG01255.hp1 HG02257.hp1 others(1): Show |
missense_variant | MODERATE | c.2084A>G | p.His695Arg | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 17/17 | 2187/2904 | 2084/2112 | 695/703 | chr22 | 45600418 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr22:45503057 | G | A | 3 | a0001c0005 a0001c0008 a0001c0009 |
4 | HG02622.hp2 HG02809.hp1 HG02886.hp1 others(1): Show |
synonymous_variant | LOW | c.72G>A | p.Ala24Ala | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/17 | 175/2904 | 72/2112 | 24/703 | chr22 | 45503057 | |||
chr22:45525669 | A | G | 1 | a0001c0024 | 1 | HG02572.hp1 | synonymous_variant | LOW | c.312A>G | p.Thr104Thr | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/17 | 415/2904 | 312/2112 | 104/703 | chr22 | 45525669 | |||
chr22:45527975 | C | T | 1 | a0001c0022 | 1 | HG02683.hp1 | synonymous_variant | LOW | c.450C>T | p.Thr150Thr | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/17 | 553/2904 | 450/2112 | 150/703 | chr22 | 45527975 | |||
chr22:45533103 | C | T | 1 | a0001c0021 | 1 | HG01884.hp1 | synonymous_variant | LOW | c.585C>T | p.Asp195Asp | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 6/17 | 688/2904 | 585/2112 | 195/703 | chr22 | 45533103 | |||
chr22:45541269 | C | T | 6 | a0001c0002 a0001c0005 a0001c0006 others(3): Show |
78 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(75): Show |
synonymous_variant | LOW | c.963C>T | p.Ile321Ile | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 9/17 | 1066/2904 | 963/2112 | 321/703 | chr22 | 45541269 | |||
chr22:45542162 | C | T | 1 | a0001c0018 | 1 | HG02896.hp1 | synonymous_variant | LOW | c.1074C>T | p.Asp358Asp | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 10/17 | 1177/2904 | 1074/2112 | 358/703 | chr22 | 45542162 | |||
chr22:45543408 | C | T | 1 | a0001c0017 | 1 | HG02293.hp2 | synonymous_variant | LOW | c.1203C>T | p.Asn401Asn | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/17 | 1306/2904 | 1203/2112 | 401/703 | chr22 | 45543408 | |||
chr22:45548713 | C | T | 2 | a0001c0015 a0003c0027 |
2 | HG02809.hp2 HG03453.hp2 |
synonymous_variant | LOW | c.1542C>T | p.Tyr514Tyr | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 13/17 | 1645/2904 | 1542/2112 | 514/703 | chr22 | 45548713 | |||
chr22:45550559 | C | T | 1 | a0001c0009 | 1 | HG02886.hp1 | synonymous_variant | LOW | c.1641C>T | p.Gly547Gly | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/17 | 1744/2904 | 1641/2112 | 547/703 | chr22 | 45550559 | |||
chr22:45577008 | G | A | 1 | a0001c0012 | 1 | HG02145.hp1 | synonymous_variant | LOW | c.1872G>A | p.Pro624Pro | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/17 | 1975/2904 | 1872/2112 | 624/703 | chr22 | 45577008 | |||
chr22:45577044 | C | T | 1 | a0001c0014 | 1 | HG03225.hp1 | synonymous_variant | LOW | c.1908C>T | p.Ile636Ile | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/17 | 2011/2904 | 1908/2112 | 636/703 | chr22 | 45577044 | |||
chr22:45600359 | G | A | 1 | a0001c0020 | 1 | HG02071.hp1 | synonymous_variant | LOW | c.2025G>A | p.Lys675Lys | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 17/17 | 2128/2904 | 2025/2112 | 675/703 | chr22 | 45600359 | |||
chr22:45600374 | T | C | 1 | a0001c0013 | 1 | NA19043.hp1 | synonymous_variant | LOW | c.2040T>C | p.Tyr680Tyr | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 17/17 | 2143/2904 | 2040/2112 | 680/703 | chr22 | 45600374 | |||
chr22:45600413 | C | T | 5 | a0001c0004 a0001c0006 a0001c0012 others(2): Show |
8 | HG00438.hp1 HG02055.hp1 HG02145.hp1 others(5): Show |
synonymous_variant | LOW | c.2079C>T | p.Asn693Asn | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 17/17 | 2182/2904 | 2079/2112 | 693/703 | chr22 | 45600413 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr22:45600481 | C | G | 3 | a0001c0001t0007 a0001c0005t0007 a0008c0019t0007 |
3 | HG02622.hp2 HG03579.hp1 NA20129.hp1 |
3_prime_UTR_variant | MODIFIER | c.*35C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 17/17 | 35 | chr22 | 45600481 | ||||||
chr22:45600655 | G | A | 1 | a0001c0001t0008 | 2 | HG01099.hp1 HG01109.hp2 |
3_prime_UTR_variant | MODIFIER | c.*209G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 17/17 | 209 | chr22 | 45600655 | ||||||
chr22:45600747 | A | C | 1 | a0001c0001t0011 | 2 | HG04199.hp1 HG04228.hp1 |
3_prime_UTR_variant | MODIFIER | c.*301A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 17/17 | 301 | chr22 | 45600747 | ||||||
chr22:45600831 | A | T | 2 | a0001c0001t0006 a0001c0002t0006 |
4 | HG02258.hp2 HG02615.hp1 HG02976.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*385A>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 17/17 | 385 | chr22 | 45600831 | ||||||
chr22:45600832 | CT | C | 4 | a0001c0001t0003 a0001c0001t0009 a0001c0002t0003 others(1): Show |
14 | HG01515.hp1 HG01515.hp2 HG02559.hp2 others(11): Show |
3_prime_UTR_variant | MODIFIER | c.*401delT | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 17/17 | 401 | INFO_REALIGN_3_PRIME | chr22 | 45600832 | |||||
chr22:45600857 | G | C | 2 | a0001c0001t0005 a0001c0002t0005 |
5 | NA18950.hp1 NA18950.hp2 NA18964.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*411G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 17/17 | 411 | chr22 | 45600857 | ||||||
chr22:45600865 | A | G | 1 | a0001c0001t0012 | 1 | HG01891.hp1 | 3_prime_UTR_variant | MODIFIER | c.*419A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 17/17 | 419 | chr22 | 45600865 | ||||||
chr22:45600902 | C | T | 12 | a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 others(9): Show |
33 | HG01433.hp2 HG01496.hp1 HG01891.hp2 others(30): Show |
3_prime_UTR_variant | MODIFIER | c.*456C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 17/17 | 456 | chr22 | 45600902 | ||||||
chr22:45600956 | T | A | 2 | a0001c0001t0010 a0001c0002t0010 |
2 | HG01257.hp2 HG01433.hp1 |
3_prime_UTR_variant | MODIFIER | c.*510T>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 17/17 | 510 | chr22 | 45600956 | ||||||
chr22:45601037 | C | T | 2 | a0001c0001t0004 a0001c0009t0004 |
6 | HG02109.hp1 HG02723.hp1 HG02886.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*591C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 17/17 | 591 | chr22 | 45601037 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr22:45503185 | C | T | 3 | a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0004g0345 |
3 | HG02647.hp1 HG02886.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.79+121C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45503185 | |||||||
chr22:45503203 | G | A | 1 | a0001c0002t0001g0002 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.79+139G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45503203 | |||||||
chr22:45503215 | C | T | 1 | a0001c0001t0001g0342 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.79+151C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45503215 | |||||||
chr22:45503271 | T | C | 3 | a0003c0025t0003g0004 a0003c0026t0001g0003 a0003c0027t0001g0005 |
3 | HG02055.hp1 HG03041.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.79+207T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45503271 | |||||||
chr22:45503305 | C | T | 3 | a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0004t0001g0339 |
3 | HG02257.hp2 HG02280.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.79+241C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45503305 | |||||||
chr22:45503332 | A | G | 1 | a0001c0001t0001g0338 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.79+268A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45503332 | |||||||
chr22:45503335 | C | T | 7 | a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0002g0334 others(4): Show |
7 | HG01109.hp2 HG01943.hp2 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.79+271C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45503335 | |||||||
chr22:45503386 | G | T | 1 | a0001c0002t0006g0337 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.79+322G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45503386 | |||||||
chr22:45503428 | T | A | 4 | a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0008g0333 others(1): Show |
4 | HG01109.hp2 HG02630.hp2 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.79+364T>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45503428 | |||||||
chr22:45503502 | T | C | 1 | a0001c0001t0001g0006 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.79+438T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45503502 | |||||||
chr22:45503662 | G | A | 1 | a0001c0002t0001g0007 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.79+598G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45503662 | |||||||
chr22:45503677 | A | G | 2 | a0001c0001t0001g0340 a0001c0001t0001g0341 |
2 | HG02280.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.79+613A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45503677 | |||||||
chr22:45503748 | G | A | 78 | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 others(75): Show |
78 | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(75): Show |
intron_variant | MODIFIER | c.79+684G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45503748 | |||||||
chr22:45503775 | C | T | 221 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0013 others(218): Show |
222 | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(219): Show |
intron_variant | MODIFIER | c.79+711C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45503775 | |||||||
chr22:45503803 | C | T | 4 | a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0008g0333 others(1): Show |
4 | HG01109.hp2 HG02630.hp2 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.79+739C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45503803 | |||||||
chr22:45503837 | A | G | 3 | a0003c0025t0003g0004 a0003c0026t0001g0003 a0003c0027t0001g0005 |
3 | HG02055.hp1 HG03041.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.79+773A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45503837 | |||||||
chr22:45503877 | C | G | 3 | a0003c0025t0003g0004 a0003c0026t0001g0003 a0003c0027t0001g0005 |
3 | HG02055.hp1 HG03041.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.79+813C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45503877 | |||||||
chr22:45503922 | A | C | 16 | a0001c0001t0001g0195 a0001c0001t0001g0319 a0001c0001t0001g0320 others(13): Show |
16 | HG00741.hp1 HG01106.hp1 HG01884.hp1 others(13): Show |
intron_variant | MODIFIER | c.79+858A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45503922 | |||||||
chr22:45504364 | G | T | 3 | a0003c0025t0003g0004 a0003c0026t0001g0003 a0003c0027t0001g0005 |
3 | HG02055.hp1 HG03041.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.79+1300G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45504364 | |||||||
chr22:45504491 | G | A | 3 | a0003c0025t0003g0004 a0003c0026t0001g0003 a0003c0027t0001g0005 |
3 | HG02055.hp1 HG03041.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.79+1427G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45504491 | |||||||
chr22:45504542 | T | G | 1 | a0003c0026t0001g0003 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.79+1478T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45504542 | |||||||
chr22:45504590 | C | T | 6 | a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0002t0001g0311 others(3): Show |
6 | HG01106.hp2 HG01109.hp1 HG02630.hp1 others(3): Show |
intron_variant | MODIFIER | c.79+1526C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45504590 | |||||||
chr22:45504645 | C | T | 3 | a0003c0025t0003g0004 a0003c0026t0001g0003 a0003c0027t0001g0005 |
3 | HG02055.hp1 HG03041.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.79+1581C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45504645 | |||||||
chr22:45504652 | C | G | 3 | a0003c0025t0003g0004 a0003c0026t0001g0003 a0003c0027t0001g0005 |
3 | HG02055.hp1 HG03041.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.79+1588C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45504652 | |||||||
chr22:45504653 | G | C | 5 | a0001c0001t0002g0334 a0001c0001t0004g0197 a0001c0002t0001g0336 others(2): Show |
5 | HG01943.hp2 HG02486.hp1 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.79+1589G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45504653 | |||||||
chr22:45504664 | G | A | 5 | a0001c0001t0001g0009 a0001c0002t0001g0008 a0001c0002t0001g0010 others(2): Show |
5 | HG00639.hp1 HG00738.hp1 HG01069.hp2 others(2): Show |
intron_variant | MODIFIER | c.79+1600G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45504664 | |||||||
chr22:45504691 | G | A | 3 | a0003c0025t0003g0004 a0003c0026t0001g0003 a0003c0027t0001g0005 |
3 | HG02055.hp1 HG03041.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.79+1627G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45504691 | |||||||
chr22:45504718 | T | A | 1 | a0001c0002t0001g0080 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.79+1654T>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45504718 | |||||||
chr22:45504780 | A | G | 3 | a0001c0001t0002g0334 a0001c0002t0001g0336 a0001c0002t0002g0335 |
3 | HG01943.hp2 HG02486.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.79+1716A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45504780 | |||||||
chr22:45504985 | T | C | 2 | a0001c0001t0001g0013 a0001c0001t0001g0014 |
2 | HG04115.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.79+1921T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45504985 | |||||||
chr22:45505061 | G | T | 3 | a0001c0001t0002g0334 a0001c0002t0001g0336 a0001c0002t0002g0335 |
3 | HG01943.hp2 HG02486.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.79+1997G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45505061 | |||||||
chr22:45505085 | G | A | 3 | a0003c0025t0003g0004 a0003c0026t0001g0003 a0003c0027t0001g0005 |
3 | HG02055.hp1 HG03041.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.79+2021G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45505085 | |||||||
chr22:45505268 | C | T | 2 | a0001c0001t0001g0193 a0001c0001t0001g0194 |
2 | HG01943.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.79+2204C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45505268 | |||||||
chr22:45505269 | G | A | 5 | a0001c0001t0002g0201 a0001c0001t0003g0198 a0001c0001t0012g0199 others(2): Show |
5 | HG01175.hp2 HG01891.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.79+2205G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45505269 | |||||||
chr22:45505365 | G | A | 1 | a0001c0001t0011g0015 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.79+2301G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45505365 | |||||||
chr22:45505386 | T | TG | 16 | a0001c0001t0001g0189 a0001c0001t0001g0307 a0001c0001t0001g0309 others(13): Show |
16 | HG01175.hp2 HG01433.hp2 HG01496.hp1 others(13): Show |
intron_variant | MODIFIER | c.79+2327dupG | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | 45505386 | ||||||
chr22:45505484 | C | T | 4 | a0001c0001t0001g0189 a0001c0006t0001g0192 a0001c0024t0001g0191 others(1): Show |
4 | HG01433.hp2 HG01884.hp2 HG02572.hp1 others(1): Show |
intron_variant | MODIFIER | c.79+2420C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45505484 | |||||||
chr22:45505488 | C | A | 8 | a0001c0001t0001g0018 a0001c0001t0002g0334 a0001c0001t0004g0197 others(5): Show |
8 | HG01243.hp2 HG01943.hp2 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.79+2424C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45505488 | |||||||
chr22:45505566 | C | T | 4 | a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 others(1): Show |
4 | HG00597.hp1 HG02080.hp1 HG02132.hp1 others(1): Show |
intron_variant | MODIFIER | c.79+2502C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45505566 | |||||||
chr22:45505602 | C | T | 10 | a0001c0001t0001g0195 a0001c0001t0001g0322 a0001c0001t0001g0323 others(7): Show |
10 | HG01884.hp1 HG02572.hp2 HG02615.hp1 others(7): Show |
intron_variant | MODIFIER | c.79+2538C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45505602 | |||||||
chr22:45505622 | A | G | 4 | a0001c0001t0001g0309 a0003c0025t0003g0004 a0003c0026t0001g0003 others(1): Show |
4 | HG02055.hp1 HG03041.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.79+2558A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45505622 | |||||||
chr22:45505691 | A | C | 1 | a0001c0001t0001g0184 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.79+2627A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45505691 | |||||||
chr22:45505858 | G | A | 1 | a0001c0001t0001g0081 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.79+2794G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45505858 | |||||||
chr22:45505907 | G | A | 1 | a0001c0001t0001g0082 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.79+2843G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45505907 | |||||||
chr22:45505910 | T | G | 7 | a0001c0001t0003g0303 a0001c0001t0004g0086 a0001c0002t0001g0203 others(4): Show |
7 | HG02109.hp1 HG02258.hp1 HG02622.hp2 others(4): Show |
intron_variant | MODIFIER | c.79+2846T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45505910 | |||||||
chr22:45506018 | C | G | 1 | a0001c0001t0001g0183 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.79+2954C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45506018 | |||||||
chr22:45506060 | T | C | 253 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 others(250): Show |
253 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(250): Show |
intron_variant | MODIFIER | c.79+2996T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45506060 | |||||||
chr22:45506075 | C | T | 1 | a0001c0001t0009g0251 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.79+3011C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45506075 | |||||||
chr22:45506239 | T | C | 161 | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 others(158): Show |
161 | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(158): Show |
intron_variant | MODIFIER | c.79+3175T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45506239 | |||||||
chr22:45506250 | A | G | 1 | a0001c0001t0011g0015 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.79+3186A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45506250 | |||||||
chr22:45506254 | G | A | 2 | a0001c0005t0001g0087 a0001c0008t0001g0088 |
2 | HG02809.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.79+3190G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45506254 | |||||||
chr22:45506335 | G | A | 1 | a0001c0004t0001g0316 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.79+3271G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45506335 | |||||||
chr22:45506341 | G | A | 5 | a0001c0001t0001g0261 a0001c0002t0001g0258 a0001c0002t0001g0259 others(2): Show |
5 | HG00323.hp1 HG01433.hp1 HG01516.hp1 others(2): Show |
intron_variant | MODIFIER | c.79+3277G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45506341 | |||||||
chr22:45506413 | C | T | 3 | a0001c0001t0001g0115 a0001c0001t0002g0114 a0001c0014t0001g0116 |
3 | HG01243.hp1 HG03225.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.79+3349C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45506413 | |||||||
chr22:45506533 | C | T | 1 | a0001c0001t0001g0113 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.79+3469C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45506533 | |||||||
chr22:45506547 | C | T | 1 | a0001c0001t0004g0086 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.79+3483C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45506547 | |||||||
chr22:45506547 | CG | C | 6 | a0001c0001t0002g0334 a0001c0002t0002g0317 a0001c0002t0002g0335 others(3): Show |
6 | HG01943.hp2 HG02055.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.79+3485delG | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | 45506547 | ||||||
chr22:45506548 | G | A | 3 | a0001c0001t0001g0059 a0001c0001t0001g0142 a0001c0001t0001g0171 |
3 | HG02027.hp2 HG04204.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.79+3484G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45506548 | |||||||
chr22:45506757 | G | C | 1 | a0001c0002t0001g0080 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.79+3693G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45506757 | |||||||
chr22:45506896 | A | G | 3 | a0003c0025t0003g0004 a0003c0026t0001g0003 a0003c0027t0001g0005 |
3 | HG02055.hp1 HG03041.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.79+3832A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45506896 | |||||||
chr22:45506922 | A | G | 1 | a0001c0001t0001g0302 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.79+3858A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45506922 | |||||||
chr22:45506943 | G | A | 1 | a0001c0001t0001g0089 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.79+3879G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45506943 | |||||||
chr22:45506952 | A | G | 18 | a0001c0001t0001g0115 a0001c0001t0001g0195 a0001c0001t0001g0309 others(15): Show |
18 | HG01243.hp1 HG01884.hp1 HG02572.hp2 others(15): Show |
intron_variant | MODIFIER | c.79+3888A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45506952 | |||||||
chr22:45507032 | G | C | 23 | a0001c0001t0001g0089 a0001c0001t0001g0117 a0001c0001t0001g0189 others(20): Show |
23 | HG00323.hp2 HG01099.hp1 HG01109.hp2 others(20): Show |
intron_variant | MODIFIER | c.79+3968G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45507032 | |||||||
chr22:45507038 | A | G | 1 | a0001c0001t0003g0303 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.79+3974A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45507038 | |||||||
chr22:45507085 | C | T | 1 | a0001c0001t0004g0112 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.79+4021C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45507085 | |||||||
chr22:45507114 | T | C | 6 | a0001c0001t0001g0263 a0001c0002t0001g0067 a0001c0002t0001g0264 others(3): Show |
6 | HG00558.hp2 NA18970.hp1 NA18991.hp1 others(3): Show |
intron_variant | MODIFIER | c.79+4050T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45507114 | |||||||
chr22:45507152 | G | A | 2 | a0001c0005t0001g0087 a0001c0008t0001g0088 |
2 | HG02809.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.79+4088G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45507152 | |||||||
chr22:45507252 | G | A | 67 | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 others(64): Show |
67 | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(64): Show |
intron_variant | MODIFIER | c.79+4188G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45507252 | |||||||
chr22:45507291 | G | A | 1 | a0001c0001t0001g0231 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.79+4227G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45507291 | |||||||
chr22:45507464 | C | G | 7 | a0001c0001t0001g0117 a0001c0001t0001g0207 a0001c0001t0001g0208 others(4): Show |
7 | HG00323.hp2 HG01099.hp1 HG01192.hp2 others(4): Show |
intron_variant | MODIFIER | c.79+4400C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45507464 | |||||||
chr22:45507551 | G | A | 2 | a0001c0015t0001g0196 a0003c0027t0001g0005 |
2 | HG02809.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.79+4487G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45507551 | |||||||
chr22:45507566 | C | A | 1 | a0001c0022t0002g0268 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.79+4502C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45507566 | |||||||
chr22:45507688 | T | C | 8 | a0001c0001t0001g0089 a0001c0001t0001g0117 a0001c0001t0001g0207 others(5): Show |
8 | HG00323.hp2 HG01099.hp1 HG01192.hp2 others(5): Show |
intron_variant | MODIFIER | c.79+4624T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45507688 | |||||||
chr22:45507764 | G | A | 2 | a0001c0001t0002g0270 a0001c0002t0001g0269 |
2 | HG02280.hp2 HG02486.hp2 |
intron_variant | MODIFIER | c.79+4700G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45507764 | |||||||
chr22:45507774 | T | C | 210 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 others(207): Show |
210 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(207): Show |
intron_variant | MODIFIER | c.79+4710T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45507774 | |||||||
chr22:45507798 | G | T | 2 | a0001c0001t0004g0086 a0001c0005t0007g0085 |
2 | HG02109.hp1 HG02622.hp2 |
intron_variant | MODIFIER | c.79+4734G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45507798 | |||||||
chr22:45507977 | A | G | 7 | a0001c0001t0001g0117 a0001c0001t0001g0207 a0001c0001t0001g0208 others(4): Show |
7 | HG00323.hp2 HG01099.hp1 HG01192.hp2 others(4): Show |
intron_variant | MODIFIER | c.79+4913A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45507977 | |||||||
chr22:45508002 | C | G | 1 | a0001c0001t0001g0250 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.79+4938C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45508002 | |||||||
chr22:45508042 | G | A | 1 | a0001c0002t0001g0273 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.79+4978G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45508042 | |||||||
chr22:45508114 | A | T | 11 | a0001c0001t0001g0195 a0001c0001t0001g0322 a0001c0001t0001g0323 others(8): Show |
11 | HG01884.hp1 HG02572.hp2 HG02615.hp1 others(8): Show |
intron_variant | MODIFIER | c.79+5050A>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45508114 | |||||||
chr22:45508139 | C | T | 7 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0249 others(4): Show |
7 | HG01081.hp1 HG01928.hp1 HG01943.hp1 others(4): Show |
intron_variant | MODIFIER | c.79+5075C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45508139 | |||||||
chr22:45508146 | G | A | 68 | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 others(65): Show |
68 | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(65): Show |
intron_variant | MODIFIER | c.79+5082G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45508146 | |||||||
chr22:45508171 | C | G | 2 | a0001c0001t0001g0115 a0001c0014t0001g0116 |
2 | HG01243.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.79+5107C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45508171 | |||||||
chr22:45508284 | A | ATTTTTTT others(6): Show |
2 | a0001c0001t0004g0086 a0001c0005t0007g0085 |
2 | HG02109.hp1 HG02622.hp2 |
intron_variant | MODIFIER | c.79+5221_79+5222ins others(13): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | 45508284 | ||||||
chr22:45508286 | C | CTTTTTTT others(5): Show |
1 | a0001c0001t0001g0089 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.79+5231_79+5232ins others(12): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | 45508286 | ||||||
chr22:45508286 | C | CTTTTTTT others(6): Show |
30 | a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 others(27): Show |
30 | HG01109.hp2 HG01167.hp2 HG01243.hp1 others(27): Show |
intron_variant | MODIFIER | c.79+5231_79+5232ins others(13): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | 45508286 | ||||||
chr22:45508286 | C | CTTTTTTT others(7): Show |
117 | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(114): Show |
117 | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(114): Show |
intron_variant | MODIFIER | c.79+5231_79+5232ins others(14): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | 45508286 | ||||||
chr22:45508286 | C | CTTTTTTT others(8): Show |
63 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 others(60): Show |
63 | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(60): Show |
intron_variant | MODIFIER | c.79+5231_79+5232ins others(15): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | 45508286 | ||||||
chr22:45508286 | C | CTTTTTTT others(9): Show |
8 | a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 others(5): Show |
8 | HG00438.hp2 HG03831.hp1 HG03927.hp2 others(5): Show |
intron_variant | MODIFIER | c.79+5231_79+5232ins others(16): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | 45508286 | ||||||
chr22:45508286 | C | T | 2 | a0001c0001t0004g0086 a0001c0005t0007g0085 |
2 | HG02109.hp1 HG02622.hp2 |
intron_variant | MODIFIER | c.79+5222C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45508286 | |||||||
chr22:45508320 | G | A | 1 | a0001c0001t0009g0251 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.79+5256G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45508320 | |||||||
chr22:45508321 | G | A | 2 | a0001c0001t0001g0115 a0001c0014t0001g0116 |
2 | HG01243.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.79+5257G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45508321 | |||||||
chr22:45508322 | T | C | 8 | a0001c0001t0001g0089 a0001c0001t0001g0117 a0001c0001t0001g0207 others(5): Show |
8 | HG00323.hp2 HG01099.hp1 HG01192.hp2 others(5): Show |
intron_variant | MODIFIER | c.79+5258T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45508322 | |||||||
chr22:45508329 | T | C | 1 | a0001c0001t0003g0198 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.79+5265T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45508329 | |||||||
chr22:45508337 | C | G | 1 | a0001c0001t0003g0198 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.79+5273C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45508337 | |||||||
chr22:45508410 | C | T | 9 | a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 others(6): Show |
9 | HG02040.hp1 HG02155.hp1 NA18966.hp2 others(6): Show |
intron_variant | MODIFIER | c.79+5346C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45508410 | |||||||
chr22:45508604 | C | T | 67 | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 others(64): Show |
67 | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(64): Show |
intron_variant | MODIFIER | c.79+5540C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45508604 | |||||||
chr22:45508700 | C | G | 1 | a0001c0002t0001g0262 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.79+5636C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45508700 | |||||||
chr22:45508741 | T | C | 15 | a0001c0001t0001g0089 a0001c0001t0001g0189 a0001c0001t0001g0331 others(12): Show |
15 | HG01109.hp2 HG01433.hp2 HG01884.hp2 others(12): Show |
intron_variant | MODIFIER | c.79+5677T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45508741 | |||||||
chr22:45508754 | T | A | 1 | a0001c0001t0001g0122 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.79+5690T>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45508754 | |||||||
chr22:45508761 | A | G | 7 | a0001c0001t0001g0117 a0001c0001t0001g0207 a0001c0001t0001g0208 others(4): Show |
7 | HG00323.hp2 HG01099.hp1 HG01192.hp2 others(4): Show |
intron_variant | MODIFIER | c.79+5697A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45508761 | |||||||
chr22:45508792 | C | T | 1 | a0001c0001t0001g0238 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.79+5728C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45508792 | |||||||
chr22:45508810 | C | A | 9 | a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 others(6): Show |
9 | HG02040.hp1 HG02155.hp1 NA18966.hp2 others(6): Show |
intron_variant | MODIFIER | c.79+5746C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45508810 | |||||||
chr22:45508810 | C | T | 2 | a0001c0001t0001g0013 a0001c0001t0001g0014 |
2 | HG04115.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.79+5746C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45508810 | |||||||
chr22:45509033 | C | T | 1 | a0001c0001t0001g0309 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.79+5969C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45509033 | |||||||
chr22:45509336 | G | A | 1 | a0001c0001t0001g0066 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.79+6272G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45509336 | |||||||
chr22:45509414 | A | T | 1 | a0001c0001t0001g0188 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.79+6350A>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45509414 | |||||||
chr22:45509540 | G | T | 1 | a0001c0002t0001g0169 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.79+6476G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45509540 | |||||||
chr22:45509542 | C | CACG | 18 | a0001c0001t0001g0115 a0001c0001t0001g0195 a0001c0001t0001g0309 others(15): Show |
18 | HG01243.hp1 HG01884.hp1 HG02572.hp2 others(15): Show |
intron_variant | MODIFIER | c.79+6480_79+6482dup others(3): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | 45509542 | ||||||
chr22:45509548 | T | C | 157 | a0001c0001t0001g0006 a0001c0001t0001g0050 a0001c0001t0001g0051 others(154): Show |
157 | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(154): Show |
intron_variant | MODIFIER | c.79+6484T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45509548 | |||||||
chr22:45509617 | C | A | 1 | a0001c0004t0001g0123 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.79+6553C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45509617 | |||||||
chr22:45509681 | A | G | 225 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 others(222): Show |
225 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(222): Show |
intron_variant | MODIFIER | c.79+6617A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45509681 | |||||||
chr22:45509837 | C | T | 1 | a0001c0001t0009g0251 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.79+6773C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45509837 | |||||||
chr22:45509901 | A | G | 1 | a0006c0011t0002g0237 | 1 | NA18975.hp1 | intron_variant | MODIFIER | c.79+6837A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45509901 | |||||||
chr22:45509938 | G | A | 1 | a0001c0001t0001g0341 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.79+6874G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45509938 | |||||||
chr22:45509967 | A | C | 224 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 others(221): Show |
224 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(221): Show |
intron_variant | MODIFIER | c.79+6903A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45509967 | |||||||
chr22:45509968 | A | C | 216 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 others(213): Show |
216 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(213): Show |
intron_variant | MODIFIER | c.79+6904A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45509968 | |||||||
chr22:45509979 | C | T | 1 | a0001c0001t0001g0309 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.79+6915C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45509979 | |||||||
chr22:45509981 | C | T | 1 | a0001c0001t0001g0261 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.79+6917C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45509981 | |||||||
chr22:45510044 | C | T | 1 | a0001c0001t0001g0049 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.79+6980C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45510044 | |||||||
chr22:45510072 | G | C | 1 | a0001c0001t0001g0124 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.79+7008G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45510072 | |||||||
chr22:45510225 | G | A | 2 | a0001c0005t0001g0087 a0001c0008t0001g0088 |
2 | HG02809.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.79+7161G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45510225 | |||||||
chr22:45510227 | T | C | 7 | a0001c0001t0001g0117 a0001c0001t0001g0207 a0001c0001t0001g0208 others(4): Show |
7 | HG00323.hp2 HG01099.hp1 HG01192.hp2 others(4): Show |
intron_variant | MODIFIER | c.79+7163T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45510227 | |||||||
chr22:45510266 | G | A | 2 | a0001c0001t0001g0125 a0001c0001t0001g0126 |
2 | NA18983.hp1 NA19068.hp1 |
intron_variant | MODIFIER | c.79+7202G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45510266 | |||||||
chr22:45510290 | T | C | 2 | a0001c0001t0008g0205 a0001c0013t0001g0204 |
2 | HG01099.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.79+7226T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45510290 | |||||||
chr22:45510303 | C | T | 1 | a0001c0015t0001g0196 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.79+7239C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45510303 | |||||||
chr22:45510345 | G | T | 1 | a0001c0001t0001g0089 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.79+7281G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45510345 | |||||||
chr22:45510364 | T | C | 14 | a0001c0001t0001g0189 a0001c0001t0001g0331 a0001c0001t0001g0332 others(11): Show |
14 | HG01109.hp2 HG01433.hp2 HG01884.hp2 others(11): Show |
intron_variant | MODIFIER | c.79+7300T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45510364 | |||||||
chr22:45510575 | T | C | 35 | a0001c0001t0001g0089 a0001c0001t0001g0115 a0001c0001t0001g0189 others(32): Show |
35 | HG01109.hp2 HG01243.hp1 HG01433.hp2 others(32): Show |
intron_variant | MODIFIER | c.79+7511T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45510575 | |||||||
chr22:45510581 | G | A | 1 | a0003c0026t0001g0003 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.79+7517G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45510581 | |||||||
chr22:45510803 | C | A | 7 | a0001c0001t0001g0117 a0001c0001t0001g0207 a0001c0001t0001g0208 others(4): Show |
7 | HG00323.hp2 HG01099.hp1 HG01192.hp2 others(4): Show |
intron_variant | MODIFIER | c.79+7739C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45510803 | |||||||
chr22:45511157 | A | AT | 117 | a0001c0001t0001g0006 a0001c0001t0001g0020 a0001c0001t0001g0050 others(114): Show |
117 | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(114): Show |
intron_variant | MODIFIER | c.80-7511dupT | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | 45511157 | ||||||
chr22:45511157 | A | ATT | 89 | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 others(86): Show |
89 | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(86): Show |
intron_variant | MODIFIER | c.80-7512_80-7511dup others(2): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | 45511157 | ||||||
chr22:45511326 | G | A | 2 | a0001c0002t0001g0203 a0001c0002t0002g0274 |
2 | HG03041.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.80-7356G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45511326 | |||||||
chr22:45511424 | G | A | 16 | a0001c0001t0001g0189 a0001c0001t0001g0331 a0001c0001t0001g0332 others(13): Show |
16 | HG01109.hp2 HG01433.hp2 HG01884.hp2 others(13): Show |
intron_variant | MODIFIER | c.80-7258G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45511424 | |||||||
chr22:45511427 | T | A | 17 | a0001c0001t0001g0089 a0001c0001t0001g0117 a0001c0001t0001g0195 others(14): Show |
17 | HG00323.hp2 HG01099.hp1 HG01192.hp2 others(14): Show |
intron_variant | MODIFIER | c.80-7255T>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45511427 | |||||||
chr22:45511452 | C | CT | 85 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(82): Show |
85 | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(82): Show |
intron_variant | MODIFIER | c.80-7215dupT | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | 45511452 | ||||||
chr22:45511452 | C | CTTT | 16 | a0001c0001t0001g0089 a0001c0001t0001g0117 a0001c0001t0001g0195 others(13): Show |
16 | HG00323.hp2 HG01099.hp1 HG01192.hp2 others(13): Show |
intron_variant | MODIFIER | c.80-7217_80-7215dup others(3): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | 45511452 | ||||||
chr22:45511467 | T | A | 115 | a0001c0001t0001g0006 a0001c0001t0001g0050 a0001c0001t0001g0051 others(112): Show |
115 | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(112): Show |
intron_variant | MODIFIER | c.80-7215T>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45511467 | |||||||
chr22:45511492 | G | C | 17 | a0001c0001t0001g0089 a0001c0001t0001g0117 a0001c0001t0001g0195 others(14): Show |
17 | HG00323.hp2 HG01099.hp1 HG01192.hp2 others(14): Show |
intron_variant | MODIFIER | c.80-7190G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45511492 | |||||||
chr22:45511609 | G | A | 17 | a0001c0001t0001g0089 a0001c0001t0001g0117 a0001c0001t0001g0195 others(14): Show |
17 | HG00323.hp2 HG01099.hp1 HG01192.hp2 others(14): Show |
intron_variant | MODIFIER | c.80-7073G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45511609 | |||||||
chr22:45511634 | A | G | 26 | a0001c0001t0001g0089 a0001c0001t0001g0189 a0001c0001t0001g0195 others(23): Show |
26 | HG01109.hp2 HG01433.hp2 HG01884.hp1 others(23): Show |
intron_variant | MODIFIER | c.80-7048A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45511634 | |||||||
chr22:45511745 | G | T | 1 | a0001c0002t0001g0169 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.80-6937G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45511745 | |||||||
chr22:45511807 | G | A | 63 | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 others(60): Show |
63 | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(60): Show |
intron_variant | MODIFIER | c.80-6875G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45511807 | |||||||
chr22:45511964 | T | G | 2 | a0001c0001t0002g0334 a0001c0002t0002g0335 |
2 | HG01943.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.80-6718T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45511964 | |||||||
chr22:45512085 | C | T | 3 | a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0297 |
3 | HG02165.hp1 NA18945.hp2 NA19068.hp2 |
intron_variant | MODIFIER | c.80-6597C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45512085 | |||||||
chr22:45512086 | G | A | 3 | a0001c0001t0001g0189 a0001c0024t0001g0191 a0005c0010t0002g0190 |
3 | HG01433.hp2 HG01884.hp2 HG02572.hp1 |
intron_variant | MODIFIER | c.80-6596G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45512086 | |||||||
chr22:45512103 | G | C | 1 | a0001c0001t0001g0021 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.80-6579G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45512103 | |||||||
chr22:45512107 | G | T | 4 | a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 others(1): Show |
4 | HG02602.hp1 HG03490.hp2 HG03491.hp1 others(1): Show |
intron_variant | MODIFIER | c.80-6575G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45512107 | |||||||
chr22:45512172 | G | A | 1 | a0001c0001t0002g0058 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.80-6510G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45512172 | |||||||
chr22:45512203 | G | A | 1 | a0001c0001t0010g0206 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.80-6479G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45512203 | |||||||
chr22:45512561 | G | T | 17 | a0001c0001t0001g0089 a0001c0001t0001g0117 a0001c0001t0001g0195 others(14): Show |
17 | HG00323.hp2 HG01099.hp1 HG01192.hp2 others(14): Show |
intron_variant | MODIFIER | c.80-6121G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45512561 | |||||||
chr22:45512581 | T | C | 17 | a0001c0001t0001g0089 a0001c0001t0001g0117 a0001c0001t0001g0195 others(14): Show |
17 | HG00323.hp2 HG01099.hp1 HG01192.hp2 others(14): Show |
intron_variant | MODIFIER | c.80-6101T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45512581 | |||||||
chr22:45512589 | G | A | 3 | a0001c0001t0001g0276 a0001c0001t0002g0275 a0002c0003t0001g0277 |
3 | HG03927.hp1 HG04115.hp1 HG04199.hp2 |
intron_variant | MODIFIER | c.80-6093G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45512589 | |||||||
chr22:45512595 | C | G | 17 | a0001c0001t0001g0089 a0001c0001t0001g0117 a0001c0001t0001g0195 others(14): Show |
17 | HG00323.hp2 HG01099.hp1 HG01192.hp2 others(14): Show |
intron_variant | MODIFIER | c.80-6087C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45512595 | |||||||
chr22:45512607 | G | A | 1 | a0001c0001t0001g0212 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.80-6075G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45512607 | |||||||
chr22:45512636 | T | A | 7 | a0001c0001t0001g0117 a0001c0001t0001g0207 a0001c0001t0001g0208 others(4): Show |
7 | HG00323.hp2 HG01099.hp1 HG01192.hp2 others(4): Show |
intron_variant | MODIFIER | c.80-6046T>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45512636 | |||||||
chr22:45513015 | A | G | 118 | a0001c0001t0001g0006 a0001c0001t0001g0033 a0001c0001t0001g0035 others(115): Show |
118 | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(115): Show |
intron_variant | MODIFIER | c.80-5667A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45513015 | |||||||
chr22:45513028 | T | C | 11 | a0001c0001t0001g0089 a0001c0001t0001g0195 a0001c0001t0001g0330 others(8): Show |
11 | HG01884.hp1 HG02615.hp1 HG02717.hp1 others(8): Show |
intron_variant | MODIFIER | c.80-5654T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45513028 | |||||||
chr22:45513207 | T | C | 1 | a0001c0001t0002g0318 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.80-5475T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45513207 | |||||||
chr22:45513219 | A | G | 18 | a0001c0001t0001g0089 a0001c0001t0001g0117 a0001c0001t0001g0195 others(15): Show |
18 | HG00323.hp2 HG01099.hp1 HG01192.hp2 others(15): Show |
intron_variant | MODIFIER | c.80-5463A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45513219 | |||||||
chr22:45513273 | C | T | 223 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 others(220): Show |
223 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(220): Show |
intron_variant | MODIFIER | c.80-5409C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45513273 | |||||||
chr22:45513307 | C | CT | 118 | a0001c0001t0001g0006 a0001c0001t0001g0033 a0001c0001t0001g0035 others(115): Show |
118 | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(115): Show |
intron_variant | MODIFIER | c.80-5360dupT | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | 45513307 | ||||||
chr22:45513307 | CT | C | 79 | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 others(76): Show |
79 | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(76): Show |
intron_variant | MODIFIER | c.80-5360delT | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | 45513307 | ||||||
chr22:45513344 | A | G | 18 | a0001c0001t0001g0089 a0001c0001t0001g0117 a0001c0001t0001g0195 others(15): Show |
18 | HG00323.hp2 HG01099.hp1 HG01192.hp2 others(15): Show |
intron_variant | MODIFIER | c.80-5338A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45513344 | |||||||
chr22:45513474 | T | C | 62 | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 others(59): Show |
62 | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(59): Show |
intron_variant | MODIFIER | c.80-5208T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45513474 | |||||||
chr22:45513537 | T | C | 43 | a0001c0001t0001g0089 a0001c0001t0001g0115 a0001c0001t0001g0117 others(40): Show |
43 | HG00323.hp2 HG01099.hp1 HG01109.hp2 others(40): Show |
intron_variant | MODIFIER | c.80-5145T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45513537 | |||||||
chr22:45513578 | A | G | 2 | a0001c0001t0001g0338 a0001c0002t0001g0336 |
2 | HG02615.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.80-5104A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45513578 | |||||||
chr22:45513584 | A | AC | 17 | a0001c0001t0001g0089 a0001c0001t0001g0117 a0001c0001t0001g0207 others(14): Show |
17 | HG00323.hp2 HG01099.hp1 HG01192.hp2 others(14): Show |
intron_variant | MODIFIER | c.80-5096dupC | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | 45513584 | ||||||
chr22:45513623 | A | G | 33 | a0001c0001t0001g0089 a0001c0001t0001g0117 a0001c0001t0001g0189 others(30): Show |
33 | HG00323.hp2 HG01099.hp1 HG01109.hp2 others(30): Show |
intron_variant | MODIFIER | c.80-5059A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45513623 | |||||||
chr22:45513648 | C | G | 17 | a0001c0001t0001g0089 a0001c0001t0001g0117 a0001c0001t0001g0207 others(14): Show |
17 | HG00323.hp2 HG01099.hp1 HG01192.hp2 others(14): Show |
intron_variant | MODIFIER | c.80-5034C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45513648 | |||||||
chr22:45513649 | G | C | 17 | a0001c0001t0001g0089 a0001c0001t0001g0117 a0001c0001t0001g0207 others(14): Show |
17 | HG00323.hp2 HG01099.hp1 HG01192.hp2 others(14): Show |
intron_variant | MODIFIER | c.80-5033G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45513649 | |||||||
chr22:45513650 | A | C | 17 | a0001c0001t0001g0089 a0001c0001t0001g0117 a0001c0001t0001g0207 others(14): Show |
17 | HG00323.hp2 HG01099.hp1 HG01192.hp2 others(14): Show |
intron_variant | MODIFIER | c.80-5032A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45513650 | |||||||
chr22:45513755 | A | C | 1 | a0001c0001t0001g0221 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.80-4927A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45513755 | |||||||
chr22:45513816 | C | T | 2 | a0001c0001t0001g0121 a0001c0001t0001g0166 |
2 | NA18974.hp1 NA18989.hp2 |
intron_variant | MODIFIER | c.80-4866C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45513816 | |||||||
chr22:45513842 | G | A | 1 | a0001c0001t0001g0184 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.80-4840G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45513842 | |||||||
chr22:45513898 | A | G | 1 | a0006c0011t0002g0237 | 1 | NA18975.hp1 | intron_variant | MODIFIER | c.80-4784A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45513898 | |||||||
chr22:45513921 | G | C | 64 | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 others(61): Show |
64 | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(61): Show |
intron_variant | MODIFIER | c.80-4761G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45513921 | |||||||
chr22:45513979 | G | C | 64 | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 others(61): Show |
64 | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(61): Show |
intron_variant | MODIFIER | c.80-4703G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45513979 | |||||||
chr22:45514062 | C | T | 114 | a0001c0001t0001g0006 a0001c0001t0001g0033 a0001c0001t0001g0035 others(111): Show |
114 | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(111): Show |
intron_variant | MODIFIER | c.80-4620C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45514062 | |||||||
chr22:45514067 | G | A | 1 | a0001c0001t0001g0312 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.80-4615G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45514067 | |||||||
chr22:45514150 | AGGATATG others(6): Show |
A | 2 | a0001c0002t0001g0203 a0001c0002t0002g0274 |
2 | HG03041.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.80-4529_80-4517del others(13): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | 45514150 | ||||||
chr22:45514272 | G | A | 218 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 others(215): Show |
218 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(215): Show |
intron_variant | MODIFIER | c.80-4410G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45514272 | |||||||
chr22:45514484 | C | G | 33 | a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0189 others(30): Show |
33 | HG00323.hp2 HG01099.hp1 HG01109.hp2 others(30): Show |
intron_variant | MODIFIER | c.80-4198C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45514484 | |||||||
chr22:45514501 | T | C | 115 | a0001c0001t0001g0006 a0001c0001t0001g0033 a0001c0001t0001g0035 others(112): Show |
115 | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(112): Show |
intron_variant | MODIFIER | c.80-4181T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45514501 | |||||||
chr22:45514529 | C | T | 1 | a0001c0002t0002g0304 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.80-4153C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45514529 | |||||||
chr22:45514560 | G | A | 1 | a0001c0001t0001g0218 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.80-4122G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45514560 | |||||||
chr22:45514651 | C | A | 2 | a0001c0001t0002g0334 a0001c0002t0002g0335 |
2 | HG01943.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.80-4031C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45514651 | |||||||
chr22:45514681 | C | T | 1 | a0001c0001t0001g0186 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.80-4001C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45514681 | |||||||
chr22:45514813 | A | G | 2 | a0001c0002t0001g0165 a0001c0002t0001g0311 |
2 | HG00735.hp1 HG01109.hp1 |
intron_variant | MODIFIER | c.80-3869A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45514813 | |||||||
chr22:45514890 | G | A | 9 | a0001c0001t0001g0115 a0001c0001t0001g0195 a0001c0001t0001g0322 others(6): Show |
9 | HG01243.hp1 HG02572.hp2 HG02809.hp1 others(6): Show |
intron_variant | MODIFIER | c.80-3792G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45514890 | |||||||
chr22:45515022 | C | T | 3 | a0001c0001t0001g0189 a0001c0024t0001g0191 a0005c0010t0002g0190 |
3 | HG01433.hp2 HG01884.hp2 HG02572.hp1 |
intron_variant | MODIFIER | c.80-3660C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45515022 | |||||||
chr22:45515297 | G | A | 6 | a0001c0001t0006g0324 a0001c0002t0002g0304 a0001c0002t0003g0326 others(3): Show |
6 | HG01884.hp1 HG02615.hp1 HG02717.hp1 others(3): Show |
intron_variant | MODIFIER | c.80-3385G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45515297 | |||||||
chr22:45515555 | G | T | 1 | a0001c0001t0004g0112 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.80-3127G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45515555 | |||||||
chr22:45515693 | C | T | 1 | a0001c0001t0001g0164 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.80-2989C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45515693 | |||||||
chr22:45515710 | G | C | 300 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(297): Show |
301 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(298): Show |
intron_variant | MODIFIER | c.80-2972G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45515710 | |||||||
chr22:45515723 | G | A | 113 | a0001c0001t0001g0006 a0001c0001t0001g0033 a0001c0001t0001g0035 others(110): Show |
113 | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(110): Show |
intron_variant | MODIFIER | c.80-2959G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45515723 | |||||||
chr22:45515759 | C | G | 1 | a0001c0001t0001g0042 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.80-2923C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45515759 | |||||||
chr22:45515773 | A | G | 1 | a0001c0001t0001g0081 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.80-2909A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45515773 | |||||||
chr22:45515788 | T | C | 8 | a0001c0001t0001g0115 a0001c0001t0001g0322 a0001c0001t0001g0323 others(5): Show |
8 | HG01243.hp1 HG02572.hp2 HG02809.hp1 others(5): Show |
intron_variant | MODIFIER | c.80-2894T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45515788 | |||||||
chr22:45515834 | G | A | 93 | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 others(90): Show |
93 | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(90): Show |
intron_variant | MODIFIER | c.80-2848G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45515834 | |||||||
chr22:45515961 | C | T | 1 | a0001c0001t0001g0126 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.80-2721C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45515961 | |||||||
chr22:45516070 | G | T | 1 | a0001c0001t0001g0309 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.80-2612G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45516070 | |||||||
chr22:45516187 | C | T | 23 | a0001c0001t0001g0117 a0001c0001t0001g0189 a0001c0001t0001g0207 others(20): Show |
23 | HG00323.hp2 HG01099.hp1 HG01109.hp2 others(20): Show |
intron_variant | MODIFIER | c.80-2495C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45516187 | |||||||
chr22:45516347 | G | A | 2 | a0001c0005t0001g0087 a0001c0008t0001g0088 |
2 | HG02809.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.80-2335G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45516347 | |||||||
chr22:45516360 | A | G | 1 | a0001c0001t0003g0230 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.80-2322A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45516360 | |||||||
chr22:45516496 | G | A | 92 | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 others(89): Show |
92 | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(89): Show |
intron_variant | MODIFIER | c.80-2186G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45516496 | |||||||
chr22:45516628 | C | T | 2 | a0001c0002t0001g0011 a0001c0002t0001g0012 |
2 | HG01069.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.80-2054C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45516628 | |||||||
chr22:45516657 | G | C | 2 | a0001c0001t0001g0271 a0001c0001t0001g0321 |
2 | HG01106.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.80-2025G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45516657 | |||||||
chr22:45516710 | A | C | 224 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 others(221): Show |
224 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(221): Show |
intron_variant | MODIFIER | c.80-1972A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45516710 | |||||||
chr22:45516867 | G | C | 115 | a0001c0001t0001g0006 a0001c0001t0001g0033 a0001c0001t0001g0035 others(112): Show |
115 | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(112): Show |
intron_variant | MODIFIER | c.80-1815G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45516867 | |||||||
chr22:45516930 | C | T | 1 | a0001c0002t0006g0337 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.80-1752C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45516930 | |||||||
chr22:45516980 | C | T | 2 | a0001c0015t0001g0196 a0003c0027t0001g0005 |
2 | HG02809.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.80-1702C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45516980 | |||||||
chr22:45517010 | A | G | 35 | a0001c0001t0001g0117 a0001c0001t0001g0189 a0001c0001t0001g0195 others(32): Show |
35 | HG00323.hp2 HG01099.hp1 HG01109.hp2 others(32): Show |
intron_variant | MODIFIER | c.80-1672A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45517010 | |||||||
chr22:45517082 | C | T | 3 | a0001c0001t0001g0244 a0001c0001t0001g0293 a0001c0001t0001g0294 |
3 | NA18944.hp2 NA18964.hp1 NA18968.hp2 |
intron_variant | MODIFIER | c.80-1600C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45517082 | |||||||
chr22:45517104 | C | A | 4 | a0001c0001t0001g0278 a0001c0001t0002g0270 a0001c0001t0009g0279 others(1): Show |
4 | HG02280.hp2 HG02486.hp2 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.80-1578C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45517104 | |||||||
chr22:45517514 | G | A | 59 | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 others(56): Show |
59 | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(56): Show |
intron_variant | MODIFIER | c.80-1168G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45517514 | |||||||
chr22:45517566 | C | G | 9 | a0001c0001t0001g0115 a0001c0001t0001g0195 a0001c0001t0001g0322 others(6): Show |
9 | HG01243.hp1 HG02559.hp2 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.80-1116C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45517566 | |||||||
chr22:45517728 | C | G | 1 | a0001c0001t0002g0114 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.80-954C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45517728 | |||||||
chr22:45517729 | T | C | 1 | a0001c0001t0002g0114 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.80-953T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45517729 | |||||||
chr22:45517730 | C | T | 1 | a0001c0001t0002g0114 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.80-952C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45517730 | |||||||
chr22:45517870 | C | CACCCAG | 8 | a0001c0001t0001g0115 a0001c0001t0001g0195 a0001c0001t0001g0322 others(5): Show |
8 | HG01243.hp1 HG02572.hp2 HG02809.hp1 others(5): Show |
intron_variant | MODIFIER | c.80-812_80-811insAC others(4): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45517870 | |||||||
chr22:45517910 | C | T | 112 | a0001c0001t0001g0006 a0001c0001t0001g0033 a0001c0001t0001g0035 others(109): Show |
112 | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(109): Show |
intron_variant | MODIFIER | c.80-772C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45517910 | |||||||
chr22:45517989 | G | A | 1 | a0001c0001t0002g0114 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.80-693G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45517989 | |||||||
chr22:45518003 | G | C | 113 | a0001c0001t0001g0006 a0001c0001t0001g0033 a0001c0001t0001g0035 others(110): Show |
113 | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(110): Show |
intron_variant | MODIFIER | c.80-679G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45518003 | |||||||
chr22:45518014 | C | A | 113 | a0001c0001t0001g0006 a0001c0001t0001g0033 a0001c0001t0001g0035 others(110): Show |
113 | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(110): Show |
intron_variant | MODIFIER | c.80-668C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45518014 | |||||||
chr22:45518127 | C | CA | 269 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(266): Show |
270 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(267): Show |
intron_variant | MODIFIER | c.80-540dupA | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | 45518127 | ||||||
chr22:45518127 | C | CAA | 15 | a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0036 others(12): Show |
15 | HG01496.hp2 HG01943.hp2 HG02486.hp1 others(12): Show |
intron_variant | MODIFIER | c.80-541_80-540dupAA | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | 45518127 | ||||||
chr22:45518127 | CAAAAAAA others(2): Show |
C | 15 | a0001c0001t0001g0189 a0001c0001t0001g0332 a0001c0001t0001g0338 others(12): Show |
15 | HG01109.hp2 HG01433.hp2 HG01884.hp2 others(12): Show |
intron_variant | MODIFIER | c.80-548_80-540delAA others(7): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | 45518127 | ||||||
chr22:45518158 | T | A | 1 | a0001c0002t0001g0173 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.80-524T>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45518158 | |||||||
chr22:45518171 | C | T | 8 | a0001c0001t0001g0057 a0001c0001t0001g0193 a0001c0001t0001g0194 others(5): Show |
8 | HG01081.hp1 HG01928.hp1 HG01943.hp1 others(5): Show |
intron_variant | MODIFIER | c.80-511C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45518171 | |||||||
chr22:45518180 | C | G | 7 | a0001c0001t0001g0120 a0001c0001t0001g0159 a0001c0001t0001g0160 others(4): Show |
7 | NA18967.hp2 NA18990.hp2 NA19062.hp2 others(4): Show |
intron_variant | MODIFIER | c.80-502C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45518180 | |||||||
chr22:45518495 | G | A | 1 | a0001c0001t0001g0133 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.80-187G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45518495 | |||||||
chr22:45518511 | G | C | 3 | a0001c0001t0001g0189 a0001c0001t0001g0340 a0005c0010t0002g0190 |
3 | HG01433.hp2 HG01884.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.80-171G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45518511 | |||||||
chr22:45518550 | C | CT | 152 | a0001c0001t0001g0006 a0001c0001t0001g0033 a0001c0001t0001g0035 others(149): Show |
152 | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(149): Show |
intron_variant | MODIFIER | c.80-131dupT | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | 45518550 | ||||||
chr22:45518581 | G | A | 43 | a0001c0001t0001g0001 a0001c0001t0001g0068 a0001c0001t0001g0069 others(40): Show |
44 | HG00323.hp1 HG00558.hp2 HG00642.hp2 others(41): Show |
intron_variant | MODIFIER | c.80-101G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45518581 | |||||||
chr22:45518600 | C | T | 5 | a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0236 others(2): Show |
5 | HG02071.hp1 HG02155.hp2 HG02559.hp2 others(2): Show |
intron_variant | MODIFIER | c.80-82C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45518600 | |||||||
chr22:45518648 | A | G | 1 | a0001c0001t0002g0114 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.80-34A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45518648 | |||||||
chr22:45518661 | C | T | 7 | a0001c0001t0001g0117 a0001c0001t0001g0207 a0001c0001t0001g0208 others(4): Show |
7 | HG00323.hp2 HG01099.hp1 HG01192.hp2 others(4): Show |
intron_variant | MODIFIER | c.80-21C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1/16 | chr22 | 45518661 | |||||||
chr22:45518791 | C | T | 1 | a0001c0001t0009g0251 | 1 | HG02559.hp2 | splice_region_variant&intron_variant | LOW | c.185+4C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45518791 | |||||||
chr22:45518795 | T | C | 64 | a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0048 others(61): Show |
64 | HG00323.hp2 HG00408.hp2 HG00642.hp2 others(61): Show |
splice_region_variant&intron_variant | LOW | c.185+8T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45518795 | |||||||
chr22:45518812 | T | G | 6 | a0001c0001t0001g0117 a0001c0001t0001g0207 a0001c0001t0001g0208 others(3): Show |
6 | HG00323.hp2 HG01099.hp1 HG01192.hp2 others(3): Show |
intron_variant | MODIFIER | c.185+25T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45518812 | |||||||
chr22:45518834 | G | C | 1 | a0002c0003t0001g0074 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.185+47G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45518834 | |||||||
chr22:45518917 | C | T | 4 | a0001c0001t0001g0340 a0001c0001t0003g0230 a0001c0004t0001g0316 others(1): Show |
4 | HG01433.hp2 HG02280.hp1 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.185+130C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45518917 | |||||||
chr22:45518936 | C | T | 1 | a0001c0001t0001g0188 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.185+149C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45518936 | |||||||
chr22:45519056 | T | TGCAGCTG others(15): Show |
108 | a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0021 others(105): Show |
108 | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(105): Show |
intron_variant | MODIFIER | c.185+276_185+277ins others(22): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 45519056 | ||||||
chr22:45519086 | T | C | 7 | a0001c0001t0001g0120 a0001c0001t0001g0159 a0001c0001t0001g0160 others(4): Show |
7 | NA18967.hp2 NA18990.hp2 NA19062.hp2 others(4): Show |
intron_variant | MODIFIER | c.185+299T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45519086 | |||||||
chr22:45519087 | A | G | 8 | a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 others(5): Show |
8 | HG00735.hp1 HG01081.hp2 HG01109.hp1 others(5): Show |
intron_variant | MODIFIER | c.185+300A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45519087 | |||||||
chr22:45519095 | G | C | 1 | a0001c0001t0001g0113 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.185+308G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45519095 | |||||||
chr22:45519095 | G | T | 1 | a0001c0001t0001g0338 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.185+308G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45519095 | |||||||
chr22:45519110 | G | T | 2 | a0001c0001t0001g0232 a0001c0001t0001g0235 |
2 | NA18993.hp2 NA19077.hp2 |
intron_variant | MODIFIER | c.185+323G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45519110 | |||||||
chr22:45519147 | G | A | 6 | a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0048 others(3): Show |
6 | HG03831.hp2 HG03942.hp2 NA18948.hp1 others(3): Show |
intron_variant | MODIFIER | c.185+360G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45519147 | |||||||
chr22:45519190 | C | A | 1 | a0001c0001t0001g0134 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.185+403C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45519190 | |||||||
chr22:45519356 | C | A | 73 | a0001c0001t0001g0006 a0001c0001t0001g0033 a0001c0001t0001g0035 others(70): Show |
73 | HG00438.hp1 HG00544.hp1 HG00609.hp1 others(70): Show |
intron_variant | MODIFIER | c.185+569C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45519356 | |||||||
chr22:45519393 | G | A | 1 | a0001c0001t0002g0222 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.185+606G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45519393 | |||||||
chr22:45519484 | C | T | 3 | a0001c0001t0001g0061 a0001c0001t0011g0060 a0002c0003t0001g0062 |
3 | HG01255.hp2 HG02257.hp1 HG04199.hp1 |
intron_variant | MODIFIER | c.185+697C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45519484 | |||||||
chr22:45519538 | T | C | 231 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 others(228): Show |
231 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(228): Show |
intron_variant | MODIFIER | c.185+751T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45519538 | |||||||
chr22:45519555 | C | T | 1 | a0001c0001t0001g0178 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.185+768C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45519555 | |||||||
chr22:45519560 | G | A | 4 | a0001c0001t0001g0174 a0001c0002t0001g0109 a0001c0002t0001g0173 others(1): Show |
4 | HG00639.hp2 HG01099.hp2 HG01361.hp2 others(1): Show |
intron_variant | MODIFIER | c.185+773G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45519560 | |||||||
chr22:45519624 | C | CA | 214 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 others(211): Show |
214 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(211): Show |
intron_variant | MODIFIER | c.185+854dupA | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 45519624 | ||||||
chr22:45519624 | CA | C | 10 | a0001c0001t0001g0131 a0001c0001t0001g0189 a0001c0001t0001g0286 others(7): Show |
10 | HG01433.hp2 HG01884.hp2 HG02258.hp2 others(7): Show |
intron_variant | MODIFIER | c.185+854delA | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 45519624 | ||||||
chr22:45519680 | A | T | 1 | a0001c0002t0001g0224 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.185+893A>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45519680 | |||||||
chr22:45519746 | C | T | 2 | a0001c0001t0009g0251 a0001c0018t0002g0095 |
2 | HG02559.hp2 HG02896.hp1 |
intron_variant | MODIFIER | c.185+959C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45519746 | |||||||
chr22:45519747 | G | A | 1 | a0001c0001t0001g0309 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.185+960G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45519747 | |||||||
chr22:45519760 | T | C | 234 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 others(231): Show |
234 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(231): Show |
intron_variant | MODIFIER | c.185+973T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45519760 | |||||||
chr22:45519777 | C | T | 34 | a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0271 others(31): Show |
34 | HG01106.hp1 HG01109.hp2 HG01175.hp2 others(31): Show |
intron_variant | MODIFIER | c.185+990C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45519777 | |||||||
chr22:45519814 | A | T | 34 | a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0271 others(31): Show |
34 | HG01106.hp1 HG01109.hp2 HG01175.hp2 others(31): Show |
intron_variant | MODIFIER | c.185+1027A>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45519814 | |||||||
chr22:45519824 | A | G | 1 | a0001c0002t0002g0317 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.185+1037A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45519824 | |||||||
chr22:45519898 | G | A | 1 | a0001c0001t0001g0332 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.185+1111G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45519898 | |||||||
chr22:45519902 | G | A | 1 | a0001c0001t0009g0279 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.185+1115G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45519902 | |||||||
chr22:45519941 | G | A | 1 | a0001c0002t0006g0337 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.185+1154G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45519941 | |||||||
chr22:45520029 | T | C | 199 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 others(196): Show |
199 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(196): Show |
intron_variant | MODIFIER | c.185+1242T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45520029 | |||||||
chr22:45520107 | T | C | 170 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 others(167): Show |
170 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(167): Show |
intron_variant | MODIFIER | c.185+1320T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45520107 | |||||||
chr22:45520311 | C | T | 1 | a0001c0001t0001g0145 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.185+1524C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45520311 | |||||||
chr22:45520447 | C | T | 1 | a0001c0001t0003g0198 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.185+1660C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45520447 | |||||||
chr22:45520480 | C | CA | 199 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 others(196): Show |
199 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(196): Show |
intron_variant | MODIFIER | c.185+1694dupA | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 45520480 | ||||||
chr22:45520508 | A | C | 1 | a0001c0001t0001g0048 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.185+1721A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45520508 | |||||||
chr22:45520799 | G | A | 195 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 others(192): Show |
195 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(192): Show |
intron_variant | MODIFIER | c.185+2012G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45520799 | |||||||
chr22:45520918 | C | T | 191 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 others(188): Show |
191 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(188): Show |
intron_variant | MODIFIER | c.185+2131C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45520918 | |||||||
chr22:45521005 | A | C | 1 | a0001c0002t0001g0067 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.185+2218A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45521005 | |||||||
chr22:45521035 | C | T | 26 | a0001c0001t0001g0113 a0001c0001t0001g0309 a0001c0001t0001g0332 others(23): Show |
26 | HG01109.hp2 HG01175.hp2 HG01891.hp1 others(23): Show |
intron_variant | MODIFIER | c.185+2248C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45521035 | |||||||
chr22:45521180 | T | G | 1 | a0001c0001t0001g0145 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.185+2393T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45521180 | |||||||
chr22:45521244 | C | T | 25 | a0001c0001t0001g0113 a0001c0001t0001g0332 a0001c0001t0002g0073 others(22): Show |
25 | HG01175.hp2 HG01891.hp1 HG01943.hp2 others(22): Show |
intron_variant | MODIFIER | c.185+2457C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45521244 | |||||||
chr22:45521275 | G | C | 206 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 others(203): Show |
206 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(203): Show |
intron_variant | MODIFIER | c.185+2488G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45521275 | |||||||
chr22:45521714 | C | T | 1 | a0001c0001t0001g0238 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.185+2927C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45521714 | |||||||
chr22:45521908 | C | T | 1 | a0001c0001t0001g0287 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.185+3121C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45521908 | |||||||
chr22:45522024 | C | T | 27 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(24): Show |
27 | HG00408.hp2 HG00423.hp1 HG00544.hp2 others(24): Show |
intron_variant | MODIFIER | c.185+3237C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45522024 | |||||||
chr22:45522046 | C | T | 1 | a0001c0001t0001g0053 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.185+3259C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45522046 | |||||||
chr22:45522175 | G | A | 1 | a0001c0002t0002g0317 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.186-3368G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45522175 | |||||||
chr22:45522193 | G | A | 1 | a0001c0001t0001g0113 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.186-3350G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45522193 | |||||||
chr22:45522232 | C | T | 167 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 others(164): Show |
167 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(164): Show |
intron_variant | MODIFIER | c.186-3311C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45522232 | |||||||
chr22:45522496 | T | C | 3 | a0001c0001t0003g0198 a0001c0002t0001g0016 a0001c0002t0002g0017 |
3 | HG01243.hp2 HG02559.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.186-3047T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45522496 | |||||||
chr22:45522505 | T | C | 1 | a0001c0001t0011g0015 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.186-3038T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45522505 | |||||||
chr22:45522611 | G | A | 214 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 others(211): Show |
214 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(211): Show |
intron_variant | MODIFIER | c.186-2932G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45522611 | |||||||
chr22:45522729 | C | G | 2 | a0001c0001t0006g0305 a0001c0005t0007g0085 |
2 | HG02258.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.186-2814C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45522729 | |||||||
chr22:45522793 | G | A | 3 | a0001c0002t0002g0335 a0003c0026t0001g0003 a0004c0007t0002g0084 |
3 | HG02055.hp1 HG02258.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.186-2750G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45522793 | |||||||
chr22:45522902 | G | A | 1 | a0001c0001t0004g0306 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.186-2641G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45522902 | |||||||
chr22:45522940 | C | A | 2 | a0001c0002t0001g0336 a0001c0021t0001g0325 |
2 | HG01884.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.186-2603C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45522940 | |||||||
chr22:45522997 | A | T | 173 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 others(170): Show |
173 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(170): Show |
intron_variant | MODIFIER | c.186-2546A>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45522997 | |||||||
chr22:45523151 | G | A | 1 | a0001c0001t0002g0318 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.186-2392G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45523151 | |||||||
chr22:45523204 | G | A | 3 | a0001c0002t0002g0335 a0003c0026t0001g0003 a0004c0007t0002g0084 |
3 | HG02055.hp1 HG02258.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.186-2339G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45523204 | |||||||
chr22:45523272 | A | C | 1 | a0001c0001t0004g0112 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.186-2271A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45523272 | |||||||
chr22:45523373 | C | T | 2 | a0001c0002t0003g0110 a0008c0019t0007g0111 |
2 | NA19030.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.186-2170C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45523373 | |||||||
chr22:45523460 | C | T | 2 | a0001c0001t0001g0276 a0001c0001t0002g0275 |
2 | HG03927.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.186-2083C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45523460 | |||||||
chr22:45523595 | C | T | 214 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 others(211): Show |
214 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(211): Show |
intron_variant | MODIFIER | c.186-1948C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45523595 | |||||||
chr22:45523716 | A | G | 1 | a0001c0002t0001g0336 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.186-1827A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45523716 | |||||||
chr22:45523741 | C | G | 7 | a0001c0001t0001g0101 a0001c0001t0001g0118 a0001c0001t0001g0121 others(4): Show |
7 | HG00597.hp1 HG02027.hp1 NA18942.hp1 others(4): Show |
intron_variant | MODIFIER | c.186-1802C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45523741 | |||||||
chr22:45523766 | A | G | 203 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 others(200): Show |
203 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(200): Show |
intron_variant | MODIFIER | c.186-1777A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45523766 | |||||||
chr22:45523855 | A | G | 1 | a0001c0021t0001g0325 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.186-1688A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45523855 | |||||||
chr22:45523872 | G | A | 1 | a0001c0002t0001g0151 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.186-1671G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45523872 | |||||||
chr22:45523964 | A | G | 3 | a0001c0001t0003g0098 a0001c0001t0004g0345 a0003c0025t0003g0004 |
3 | HG02886.hp2 HG03041.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.186-1579A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45523964 | |||||||
chr22:45524006 | G | A | 1 | a0001c0001t0001g0210 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.186-1537G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45524006 | |||||||
chr22:45524024 | C | T | 2 | a0001c0001t0001g0319 a0001c0001t0009g0251 |
2 | HG00741.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.186-1519C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45524024 | |||||||
chr22:45524025 | G | A | 1 | a0001c0013t0001g0204 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.186-1518G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45524025 | |||||||
chr22:45524137 | C | T | 6 | a0001c0001t0001g0184 a0001c0001t0008g0333 a0001c0002t0002g0335 others(3): Show |
6 | HG01109.hp2 HG02055.hp1 HG02258.hp1 others(3): Show |
intron_variant | MODIFIER | c.186-1406C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45524137 | |||||||
chr22:45524334 | G | A | 6 | a0001c0001t0001g0124 a0001c0001t0001g0245 a0001c0001t0001g0246 others(3): Show |
6 | HG01069.hp1 HG01255.hp1 HG02602.hp1 others(3): Show |
intron_variant | MODIFIER | c.186-1209G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45524334 | |||||||
chr22:45524361 | C | G | 5 | a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0023 others(2): Show |
5 | NA18970.hp2 NA18974.hp2 NA18995.hp2 others(2): Show |
intron_variant | MODIFIER | c.186-1182C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45524361 | |||||||
chr22:45524378 | G | A | 2 | a0001c0002t0001g0273 a0001c0005t0001g0087 |
2 | HG02451.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.186-1165G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45524378 | |||||||
chr22:45524520 | T | C | 8 | a0001c0001t0001g0037 a0001c0001t0001g0129 a0001c0001t0001g0130 others(5): Show |
8 | HG00423.hp2 HG02165.hp2 NA18986.hp1 others(5): Show |
intron_variant | MODIFIER | c.186-1023T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45524520 | |||||||
chr22:45524649 | C | T | 4 | a0001c0002t0002g0105 a0001c0002t0002g0335 a0001c0002t0003g0329 others(1): Show |
4 | HG02486.hp1 HG02965.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.186-894C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45524649 | |||||||
chr22:45525119 | G | A | 87 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0019 others(84): Show |
88 | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(85): Show |
intron_variant | MODIFIER | c.186-424G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45525119 | |||||||
chr22:45525119 | G | GAGAGAA | 41 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0020 others(38): Show |
41 | HG00438.hp2 HG00639.hp1 HG00642.hp1 others(38): Show |
intron_variant | MODIFIER | c.186-421_186-420ins others(6): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 45525119 | ||||||
chr22:45525127 | A | AAGAG | 18 | a0001c0001t0001g0107 a0001c0001t0001g0154 a0001c0001t0001g0207 others(15): Show |
18 | HG00140.hp1 HG00323.hp2 HG01192.hp2 others(15): Show |
intron_variant | MODIFIER | c.186-415_186-414ins others(4): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 45525127 | ||||||
chr22:45525127 | A | G | 149 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0013 others(146): Show |
150 | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(147): Show |
intron_variant | MODIFIER | c.186-416A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45525127 | |||||||
chr22:45525131 | C | CAG | 105 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0019 others(102): Show |
106 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(103): Show |
intron_variant | MODIFIER | c.186-406_186-405dup others(2): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 45525131 | ||||||
chr22:45525179 | AAGAG | A | 137 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0013 others(134): Show |
138 | HG00140.hp2 HG00408.hp1 HG00423.hp1 others(135): Show |
intron_variant | MODIFIER | c.186-350_186-347del others(4): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 45525179 | ||||||
chr22:45525182 | AGAG | A | 49 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0020 others(46): Show |
49 | HG00438.hp2 HG00639.hp1 HG00642.hp1 others(46): Show |
intron_variant | MODIFIER | c.186-360_186-358del others(3): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45525182 | |||||||
chr22:45525201 | GAGAA | G | 118 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0013 others(115): Show |
119 | HG00140.hp2 HG00408.hp1 HG00423.hp1 others(116): Show |
intron_variant | MODIFIER | c.186-330_186-327del others(4): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr22 | 45525201 | ||||||
chr22:45525216 | A | C | 1 | a0001c0001t0001g0320 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.186-327A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45525216 | |||||||
chr22:45525328 | T | G | 293 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(290): Show |
294 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(291): Show |
intron_variant | MODIFIER | c.186-215T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45525328 | |||||||
chr22:45525478 | C | T | 1 | a0001c0001t0001g0272 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.186-65C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45525478 | |||||||
chr22:45525479 | G | A | 77 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0020 others(74): Show |
77 | HG00408.hp2 HG00438.hp2 HG00639.hp1 others(74): Show |
intron_variant | MODIFIER | c.186-64G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45525479 | |||||||
chr22:45525487 | C | T | 1 | a0001c0001t0001g0182 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.186-56C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 2/16 | chr22 | 45525487 | |||||||
chr22:45525731 | C | T | 1 | a0001c0001t0001g0068 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.321+53C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/16 | chr22 | 45525731 | |||||||
chr22:45525751 | C | T | 30 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(27): Show |
30 | HG00408.hp2 HG01069.hp1 HG01081.hp1 others(27): Show |
intron_variant | MODIFIER | c.321+73C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/16 | chr22 | 45525751 | |||||||
chr22:45525832 | G | A | 1 | a0001c0002t0001g0280 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.321+154G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/16 | chr22 | 45525832 | |||||||
chr22:45525876 | G | A | 5 | a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0106 others(2): Show |
5 | HG02055.hp2 HG02145.hp1 HG02486.hp2 others(2): Show |
intron_variant | MODIFIER | c.321+198G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/16 | chr22 | 45525876 | |||||||
chr22:45525903 | C | T | 1 | a0001c0001t0001g0134 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.321+225C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/16 | chr22 | 45525903 | |||||||
chr22:45525912 | G | C | 2 | a0001c0001t0001g0338 a0001c0001t0003g0198 |
2 | HG02615.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.321+234G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/16 | chr22 | 45525912 | |||||||
chr22:45525920 | G | T | 1 | a0001c0001t0001g0130 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.321+242G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/16 | chr22 | 45525920 | |||||||
chr22:45525945 | G | A | 1 | a0001c0001t0001g0307 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.321+267G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/16 | chr22 | 45525945 | |||||||
chr22:45525987 | G | C | 28 | a0001c0001t0001g0013 a0001c0001t0001g0052 a0001c0001t0001g0053 others(25): Show |
28 | HG00140.hp1 HG00323.hp2 HG01192.hp2 others(25): Show |
intron_variant | MODIFIER | c.321+309G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/16 | chr22 | 45525987 | |||||||
chr22:45526003 | C | T | 36 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(33): Show |
36 | HG00408.hp2 HG01069.hp1 HG01081.hp1 others(33): Show |
intron_variant | MODIFIER | c.321+325C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/16 | chr22 | 45526003 | |||||||
chr22:45526083 | A | G | 7 | a0001c0001t0002g0308 a0001c0001t0003g0098 a0001c0001t0004g0345 others(4): Show |
7 | HG01496.hp1 HG02257.hp2 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.321+405A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/16 | chr22 | 45526083 | |||||||
chr22:45526149 | T | TAAAAGAG others(340): Show |
1 | a0001c0001t0001g0159 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.321+485_321+486ins others(347): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr22 | 45526149 | ||||||
chr22:45526183 | C | T | 1 | a0001c0002t0001g0152 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.321+505C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/16 | chr22 | 45526183 | |||||||
chr22:45526208 | T | C | 2 | a0001c0001t0001g0338 a0001c0001t0003g0198 |
2 | HG02615.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.321+530T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/16 | chr22 | 45526208 | |||||||
chr22:45526224 | G | A | 1 | a0001c0001t0001g0278 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.321+546G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/16 | chr22 | 45526224 | |||||||
chr22:45526283 | C | G | 30 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(27): Show |
30 | HG00408.hp2 HG01069.hp1 HG01081.hp1 others(27): Show |
intron_variant | MODIFIER | c.321+605C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/16 | chr22 | 45526283 | |||||||
chr22:45526289 | A | G | 1 | a0001c0020t0002g0156 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.321+611A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/16 | chr22 | 45526289 | |||||||
chr22:45526327 | C | T | 2 | a0001c0001t0001g0026 a0001c0001t0001g0027 |
2 | HG00140.hp2 HG02735.hp2 |
intron_variant | MODIFIER | c.321+649C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/16 | chr22 | 45526327 | |||||||
chr22:45526338 | T | C | 1 | a0001c0001t0001g0136 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.321+660T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/16 | chr22 | 45526338 | |||||||
chr22:45526505 | G | C | 1 | a0001c0002t0001g0008 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.321+827G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/16 | chr22 | 45526505 | |||||||
chr22:45526521 | G | A | 1 | a0001c0002t0001g0280 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.321+843G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/16 | chr22 | 45526521 | |||||||
chr22:45526555 | T | TA | 308 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(305): Show |
309 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(306): Show |
intron_variant | MODIFIER | c.321+877_321+878ins others(1): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/16 | chr22 | 45526555 | |||||||
chr22:45526556 | T | G | 308 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(305): Show |
309 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(306): Show |
intron_variant | MODIFIER | c.321+878T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/16 | chr22 | 45526556 | |||||||
chr22:45526586 | A | G | 308 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(305): Show |
309 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(306): Show |
intron_variant | MODIFIER | c.321+908A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/16 | chr22 | 45526586 | |||||||
chr22:45526622 | G | T | 1 | a0001c0002t0001g0028 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.321+944G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/16 | chr22 | 45526622 | |||||||
chr22:45526719 | G | A | 1 | a0001c0001t0001g0319 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.321+1041G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/16 | chr22 | 45526719 | |||||||
chr22:45526795 | A | G | 1 | a0001c0001t0001g0131 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.322-1052A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/16 | chr22 | 45526795 | |||||||
chr22:45526930 | G | A | 1 | a0001c0001t0002g0222 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.322-917G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/16 | chr22 | 45526930 | |||||||
chr22:45526964 | T | G | 327 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(324): Show |
328 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(325): Show |
intron_variant | MODIFIER | c.322-883T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/16 | chr22 | 45526964 | |||||||
chr22:45527060 | G | C | 42 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0020 others(39): Show |
42 | HG00438.hp2 HG00639.hp1 HG00642.hp1 others(39): Show |
intron_variant | MODIFIER | c.322-787G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/16 | chr22 | 45527060 | |||||||
chr22:45527197 | C | G | 326 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(323): Show |
327 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(324): Show |
intron_variant | MODIFIER | c.322-650C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/16 | chr22 | 45527197 | |||||||
chr22:45527208 | G | A | 2 | a0001c0001t0001g0076 a0001c0001t0001g0272 |
2 | NA18966.hp1 NA19004.hp2 |
intron_variant | MODIFIER | c.322-639G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/16 | chr22 | 45527208 | |||||||
chr22:45527332 | C | T | 5 | a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0106 others(2): Show |
5 | HG02055.hp2 HG02145.hp1 HG02486.hp2 others(2): Show |
intron_variant | MODIFIER | c.322-515C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/16 | chr22 | 45527332 | |||||||
chr22:45527398 | A | G | 1 | a0001c0001t0001g0188 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.322-449A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/16 | chr22 | 45527398 | |||||||
chr22:45527435 | G | A | 1 | a0001c0001t0001g0144 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.322-412G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/16 | chr22 | 45527435 | |||||||
chr22:45527540 | G | A | 25 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 others(22): Show |
25 | HG01175.hp2 HG01243.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.322-307G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/16 | chr22 | 45527540 | |||||||
chr22:45527554 | C | T | 24 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 others(21): Show |
24 | HG01175.hp2 HG01243.hp1 HG01891.hp1 others(21): Show |
intron_variant | MODIFIER | c.322-293C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/16 | chr22 | 45527554 | |||||||
chr22:45527745 | G | C | 32 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 others(29): Show |
32 | HG01175.hp2 HG01243.hp1 HG01496.hp1 others(29): Show |
intron_variant | MODIFIER | c.322-102G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 3/16 | chr22 | 45527745 | |||||||
chr22:45528014 | C | A | 10 | a0001c0002t0001g0016 a0001c0002t0001g0080 a0001c0002t0002g0017 others(7): Show |
10 | HG01243.hp2 HG02486.hp1 HG02559.hp1 others(7): Show |
splice_region_variant&intron_variant | LOW | c.484+5C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45528014 | |||||||
chr22:45528075 | C | T | 2 | a0001c0002t0003g0110 a0008c0019t0007g0111 |
2 | NA19030.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.484+66C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45528075 | |||||||
chr22:45528121 | T | TG | 327 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(324): Show |
328 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(325): Show |
intron_variant | MODIFIER | c.484+116dupG | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr22 | 45528121 | ||||||
chr22:45528214 | C | T | 80 | a0001c0001t0001g0189 a0001c0001t0001g0216 a0001c0001t0001g0320 others(77): Show |
80 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(77): Show |
intron_variant | MODIFIER | c.484+205C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45528214 | |||||||
chr22:45528232 | T | C | 327 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(324): Show |
328 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(325): Show |
intron_variant | MODIFIER | c.484+223T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45528232 | |||||||
chr22:45528293 | T | C | 327 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(324): Show |
328 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(325): Show |
intron_variant | MODIFIER | c.484+284T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45528293 | |||||||
chr22:45528430 | C | T | 1 | a0006c0011t0002g0237 | 1 | NA18975.hp1 | intron_variant | MODIFIER | c.484+421C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45528430 | |||||||
chr22:45528436 | C | T | 2 | a0001c0001t0001g0338 a0001c0001t0003g0198 |
2 | HG02615.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.484+427C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45528436 | |||||||
chr22:45528459 | C | T | 2 | a0001c0001t0001g0271 a0001c0001t0001g0321 |
2 | HG01106.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.484+450C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45528459 | |||||||
chr22:45528470 | G | A | 1 | a0005c0010t0002g0190 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.484+461G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45528470 | |||||||
chr22:45528532 | A | G | 104 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0020 others(101): Show |
104 | HG00408.hp2 HG00438.hp2 HG00639.hp1 others(101): Show |
intron_variant | MODIFIER | c.484+523A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45528532 | |||||||
chr22:45528555 | G | C | 3 | a0001c0001t0001g0115 a0001c0014t0001g0116 a0003c0026t0001g0003 |
3 | HG01243.hp1 HG02055.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.484+546G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45528555 | |||||||
chr22:45528597 | A | G | 96 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0020 others(93): Show |
96 | HG00408.hp2 HG00438.hp2 HG00639.hp1 others(93): Show |
intron_variant | MODIFIER | c.484+588A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45528597 | |||||||
chr22:45528662 | T | C | 1 | a0001c0005t0007g0085 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.484+653T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45528662 | |||||||
chr22:45528732 | CACTT | C | 42 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0020 others(39): Show |
42 | HG00438.hp2 HG00639.hp1 HG00642.hp1 others(39): Show |
intron_variant | MODIFIER | c.484+726_484+729del others(4): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr22 | 45528732 | ||||||
chr22:45528739 | G | A | 7 | a0001c0001t0002g0308 a0001c0001t0003g0098 a0001c0001t0004g0345 others(4): Show |
7 | HG01496.hp1 HG02257.hp2 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.484+730G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45528739 | |||||||
chr22:45528800 | A | G | 282 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0013 others(279): Show |
283 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(280): Show |
intron_variant | MODIFIER | c.484+791A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45528800 | |||||||
chr22:45529066 | T | A | 56 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(53): Show |
56 | HG00408.hp2 HG01069.hp1 HG01081.hp1 others(53): Show |
intron_variant | MODIFIER | c.484+1057T>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45529066 | |||||||
chr22:45529081 | G | A | 19 | a0001c0001t0001g0068 a0001c0001t0001g0089 a0001c0001t0001g0115 others(16): Show |
19 | HG01175.hp2 HG01243.hp1 HG01891.hp1 others(16): Show |
intron_variant | MODIFIER | c.484+1072G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45529081 | |||||||
chr22:45529109 | C | T | 56 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(53): Show |
56 | HG00408.hp2 HG01069.hp1 HG01081.hp1 others(53): Show |
intron_variant | MODIFIER | c.484+1100C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45529109 | |||||||
chr22:45529124 | G | C | 56 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(53): Show |
56 | HG00408.hp2 HG01069.hp1 HG01081.hp1 others(53): Show |
intron_variant | MODIFIER | c.484+1115G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45529124 | |||||||
chr22:45529133 | G | A | 56 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(53): Show |
56 | HG00408.hp2 HG01069.hp1 HG01081.hp1 others(53): Show |
intron_variant | MODIFIER | c.484+1124G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45529133 | |||||||
chr22:45529136 | G | C | 56 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(53): Show |
56 | HG00408.hp2 HG01069.hp1 HG01081.hp1 others(53): Show |
intron_variant | MODIFIER | c.484+1127G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45529136 | |||||||
chr22:45529142 | C | G | 56 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(53): Show |
56 | HG00408.hp2 HG01069.hp1 HG01081.hp1 others(53): Show |
intron_variant | MODIFIER | c.484+1133C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45529142 | |||||||
chr22:45529147 | A | G | 56 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(53): Show |
56 | HG00408.hp2 HG01069.hp1 HG01081.hp1 others(53): Show |
intron_variant | MODIFIER | c.484+1138A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45529147 | |||||||
chr22:45529150 | C | T | 1 | a0001c0001t0001g0330 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.484+1141C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45529150 | |||||||
chr22:45529203 | C | T | 1 | a0001c0001t0001g0076 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.484+1194C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45529203 | |||||||
chr22:45529286 | A | T | 30 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(27): Show |
30 | HG00408.hp2 HG01069.hp1 HG01081.hp1 others(27): Show |
intron_variant | MODIFIER | c.484+1277A>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45529286 | |||||||
chr22:45529354 | C | T | 19 | a0001c0001t0001g0068 a0001c0001t0001g0089 a0001c0001t0001g0115 others(16): Show |
19 | HG01175.hp2 HG01243.hp1 HG01891.hp1 others(16): Show |
intron_variant | MODIFIER | c.484+1345C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45529354 | |||||||
chr22:45529368 | G | A | 1 | a0001c0001t0001g0177 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.484+1359G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45529368 | |||||||
chr22:45529494 | G | A | 7 | a0001c0001t0002g0308 a0001c0001t0003g0098 a0001c0001t0004g0345 others(4): Show |
7 | HG01496.hp1 HG02257.hp2 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.484+1485G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45529494 | |||||||
chr22:45529552 | C | T | 56 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(53): Show |
56 | HG00408.hp2 HG01069.hp1 HG01081.hp1 others(53): Show |
intron_variant | MODIFIER | c.484+1543C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45529552 | |||||||
chr22:45529563 | T | C | 111 | a0001c0001t0001g0013 a0001c0001t0001g0049 a0001c0001t0001g0052 others(108): Show |
111 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(108): Show |
intron_variant | MODIFIER | c.484+1554T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45529563 | |||||||
chr22:45529689 | A | C | 7 | a0001c0001t0002g0308 a0001c0001t0003g0098 a0001c0001t0004g0345 others(4): Show |
7 | HG01496.hp1 HG02257.hp2 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.485-1576A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45529689 | |||||||
chr22:45529727 | G | A | 59 | a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0002t0001g0008 others(56): Show |
59 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(56): Show |
intron_variant | MODIFIER | c.485-1538G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45529727 | |||||||
chr22:45529733 | G | A | 1 | a0001c0001t0001g0100 | 1 | NA19086.hp2 | intron_variant | MODIFIER | c.485-1532G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45529733 | |||||||
chr22:45529791 | T | C | 56 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(53): Show |
56 | HG00408.hp2 HG01069.hp1 HG01081.hp1 others(53): Show |
intron_variant | MODIFIER | c.485-1474T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45529791 | |||||||
chr22:45529915 | C | G | 1 | a0001c0001t0001g0294 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.485-1350C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45529915 | |||||||
chr22:45529916 | G | A | 19 | a0001c0001t0001g0068 a0001c0001t0001g0089 a0001c0001t0001g0115 others(16): Show |
19 | HG01175.hp2 HG01243.hp1 HG01891.hp1 others(16): Show |
intron_variant | MODIFIER | c.485-1349G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45529916 | |||||||
chr22:45529916 | G | C | 1 | a0001c0001t0001g0294 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.485-1349G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45529916 | |||||||
chr22:45529917 | A | G | 1 | a0001c0001t0001g0294 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.485-1348A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45529917 | |||||||
chr22:45529958 | A | G | 56 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(53): Show |
56 | HG00408.hp2 HG01069.hp1 HG01081.hp1 others(53): Show |
intron_variant | MODIFIER | c.485-1307A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45529958 | |||||||
chr22:45529988 | C | G | 56 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(53): Show |
56 | HG00408.hp2 HG01069.hp1 HG01081.hp1 others(53): Show |
intron_variant | MODIFIER | c.485-1277C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45529988 | |||||||
chr22:45530032 | C | T | 57 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(54): Show |
57 | HG00408.hp2 HG01069.hp1 HG01081.hp1 others(54): Show |
intron_variant | MODIFIER | c.485-1233C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45530032 | |||||||
chr22:45530081 | TGTTCTTA | T | 56 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(53): Show |
56 | HG00408.hp2 HG01069.hp1 HG01081.hp1 others(53): Show |
intron_variant | MODIFIER | c.485-1180_485-1174d others(9): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr22 | 45530081 | ||||||
chr22:45530164 | C | T | 1 | a0001c0001t0002g0073 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.485-1101C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45530164 | |||||||
chr22:45530197 | A | G | 1 | a0001c0001t0001g0319 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.485-1068A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45530197 | |||||||
chr22:45530478 | T | G | 6 | a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0106 others(3): Show |
6 | HG02055.hp2 HG02145.hp1 HG02486.hp2 others(3): Show |
intron_variant | MODIFIER | c.485-787T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45530478 | |||||||
chr22:45530583 | A | C | 2 | a0001c0001t0001g0113 a0001c0001t0001g0322 |
2 | HG03209.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.485-682A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45530583 | |||||||
chr22:45530646 | T | C | 56 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(53): Show |
56 | HG00408.hp2 HG01069.hp1 HG01081.hp1 others(53): Show |
intron_variant | MODIFIER | c.485-619T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45530646 | |||||||
chr22:45530705 | T | C | 56 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(53): Show |
56 | HG00408.hp2 HG01069.hp1 HG01081.hp1 others(53): Show |
intron_variant | MODIFIER | c.485-560T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45530705 | |||||||
chr22:45530718 | G | A | 6 | a0001c0001t0001g0101 a0001c0001t0001g0118 a0001c0001t0001g0121 others(3): Show |
6 | HG00544.hp1 HG00597.hp1 NA18942.hp1 others(3): Show |
intron_variant | MODIFIER | c.485-547G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45530718 | |||||||
chr22:45530770 | CT | C | 56 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(53): Show |
56 | HG00408.hp2 HG01069.hp1 HG01081.hp1 others(53): Show |
intron_variant | MODIFIER | c.485-485delT | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr22 | 45530770 | ||||||
chr22:45530844 | A | T | 56 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(53): Show |
56 | HG00408.hp2 HG01069.hp1 HG01081.hp1 others(53): Show |
intron_variant | MODIFIER | c.485-421A>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45530844 | |||||||
chr22:45530908 | T | C | 56 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(53): Show |
56 | HG00408.hp2 HG01069.hp1 HG01081.hp1 others(53): Show |
intron_variant | MODIFIER | c.485-357T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45530908 | |||||||
chr22:45530916 | G | A | 26 | a0001c0001t0001g0068 a0001c0001t0001g0089 a0001c0001t0001g0115 others(23): Show |
26 | HG01175.hp2 HG01243.hp1 HG01496.hp1 others(23): Show |
intron_variant | MODIFIER | c.485-349G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45530916 | |||||||
chr22:45530950 | G | A | 26 | a0001c0001t0001g0068 a0001c0001t0001g0089 a0001c0001t0001g0115 others(23): Show |
26 | HG01175.hp2 HG01243.hp1 HG01496.hp1 others(23): Show |
intron_variant | MODIFIER | c.485-315G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45530950 | |||||||
chr22:45531000 | G | A | 102 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0018 others(99): Show |
103 | HG00140.hp2 HG00408.hp1 HG00423.hp1 others(100): Show |
intron_variant | MODIFIER | c.485-265G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45531000 | |||||||
chr22:45531132 | C | G | 1 | a0001c0001t0001g0068 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.485-133C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45531132 | |||||||
chr22:45531162 | G | A | 42 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0020 others(39): Show |
42 | HG00438.hp2 HG00639.hp1 HG00642.hp1 others(39): Show |
intron_variant | MODIFIER | c.485-103G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45531162 | |||||||
chr22:45531165 | T | C | 30 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(27): Show |
30 | HG00408.hp2 HG01069.hp1 HG01081.hp1 others(27): Show |
intron_variant | MODIFIER | c.485-100T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45531165 | |||||||
chr22:45531175 | A | G | 1 | a0001c0001t0001g0187 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.485-90A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45531175 | |||||||
chr22:45531232 | A | G | 30 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(27): Show |
30 | HG00408.hp2 HG01069.hp1 HG01081.hp1 others(27): Show |
intron_variant | MODIFIER | c.485-33A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 4/16 | chr22 | 45531232 | |||||||
chr22:45531340 | C | G | 56 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(53): Show |
56 | HG00408.hp2 HG01069.hp1 HG01081.hp1 others(53): Show |
intron_variant | MODIFIER | c.544+16C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 5/16 | chr22 | 45531340 | |||||||
chr22:45531568 | G | A | 43 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0020 others(40): Show |
43 | HG00438.hp2 HG00639.hp1 HG00642.hp1 others(40): Show |
intron_variant | MODIFIER | c.544+244G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 5/16 | chr22 | 45531568 | |||||||
chr22:45531583 | A | C | 32 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 others(29): Show |
32 | HG01175.hp2 HG01243.hp1 HG01496.hp1 others(29): Show |
intron_variant | MODIFIER | c.544+259A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 5/16 | chr22 | 45531583 | |||||||
chr22:45531587 | G | A | 4 | a0001c0001t0001g0217 a0001c0001t0001g0298 a0001c0001t0001g0299 others(1): Show |
4 | HG01081.hp1 HG01928.hp1 HG01993.hp1 others(1): Show |
intron_variant | MODIFIER | c.544+263G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 5/16 | chr22 | 45531587 | |||||||
chr22:45531671 | G | C | 31 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 others(28): Show |
31 | HG01175.hp2 HG01243.hp1 HG01496.hp1 others(28): Show |
intron_variant | MODIFIER | c.544+347G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 5/16 | chr22 | 45531671 | |||||||
chr22:45531783 | G | A | 18 | a0001c0001t0001g0068 a0001c0001t0001g0089 a0001c0001t0001g0115 others(15): Show |
18 | HG01175.hp2 HG01243.hp1 HG01891.hp1 others(15): Show |
intron_variant | MODIFIER | c.544+459G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 5/16 | chr22 | 45531783 | |||||||
chr22:45531967 | A | C | 15 | a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0106 others(12): Show |
15 | HG01109.hp2 HG01496.hp1 HG02055.hp2 others(12): Show |
intron_variant | MODIFIER | c.544+643A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 5/16 | chr22 | 45531967 | |||||||
chr22:45532002 | G | A | 1 | a0001c0002t0002g0105 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.544+678G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 5/16 | chr22 | 45532002 | |||||||
chr22:45532007 | T | C | 44 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0020 others(41): Show |
44 | HG00438.hp2 HG00639.hp1 HG00642.hp1 others(41): Show |
intron_variant | MODIFIER | c.544+683T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 5/16 | chr22 | 45532007 | |||||||
chr22:45532056 | A | G | 1 | a0001c0002t0001g0151 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.544+732A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 5/16 | chr22 | 45532056 | |||||||
chr22:45532093 | A | C | 31 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 others(28): Show |
31 | HG01175.hp2 HG01243.hp1 HG01496.hp1 others(28): Show |
intron_variant | MODIFIER | c.544+769A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 5/16 | chr22 | 45532093 | |||||||
chr22:45532139 | T | C | 300 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(297): Show |
301 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(298): Show |
intron_variant | MODIFIER | c.544+815T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 5/16 | chr22 | 45532139 | |||||||
chr22:45532152 | A | G | 1 | a0001c0001t0001g0022 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.544+828A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 5/16 | chr22 | 45532152 | |||||||
chr22:45532160 | T | G | 1 | a0001c0001t0001g0299 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.544+836T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 5/16 | chr22 | 45532160 | |||||||
chr22:45532186 | T | G | 31 | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 others(28): Show |
31 | HG01175.hp2 HG01243.hp1 HG01496.hp1 others(28): Show |
intron_variant | MODIFIER | c.544+862T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 5/16 | chr22 | 45532186 | |||||||
chr22:45532218 | T | C | 2 | a0001c0001t0002g0334 a0001c0001t0003g0230 |
2 | HG01943.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.545-845T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 5/16 | chr22 | 45532218 | |||||||
chr22:45532267 | G | A | 298 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(295): Show |
299 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(296): Show |
intron_variant | MODIFIER | c.545-796G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 5/16 | chr22 | 45532267 | |||||||
chr22:45532325 | C | T | 57 | a0001c0001t0001g0013 a0001c0001t0001g0049 a0001c0001t0001g0053 others(54): Show |
57 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(54): Show |
intron_variant | MODIFIER | c.545-738C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 5/16 | chr22 | 45532325 | |||||||
chr22:45532444 | G | A | 299 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(296): Show |
300 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(297): Show |
intron_variant | MODIFIER | c.545-619G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 5/16 | chr22 | 45532444 | |||||||
chr22:45532539 | G | T | 1 | a0001c0002t0002g0304 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.545-524G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 5/16 | chr22 | 45532539 | |||||||
chr22:45532780 | T | C | 317 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(314): Show |
318 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(315): Show |
intron_variant | MODIFIER | c.545-283T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 5/16 | chr22 | 45532780 | |||||||
chr22:45532782 | C | T | 317 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(314): Show |
318 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(315): Show |
intron_variant | MODIFIER | c.545-281C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 5/16 | chr22 | 45532782 | |||||||
chr22:45532820 | C | G | 1 | a0001c0001t0001g0193 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.545-243C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 5/16 | chr22 | 45532820 | |||||||
chr22:45532840 | C | G | 1 | a0001c0002t0001g0202 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.545-223C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 5/16 | chr22 | 45532840 | |||||||
chr22:45532866 | A | C | 152 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0020 others(149): Show |
152 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(149): Show |
intron_variant | MODIFIER | c.545-197A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 5/16 | chr22 | 45532866 | |||||||
chr22:45532871 | C | G | 152 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0020 others(149): Show |
152 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(149): Show |
intron_variant | MODIFIER | c.545-192C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 5/16 | chr22 | 45532871 | |||||||
chr22:45532877 | G | C | 6 | a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0106 others(3): Show |
6 | HG02055.hp2 HG02145.hp1 HG02486.hp2 others(3): Show |
intron_variant | MODIFIER | c.545-186G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 5/16 | chr22 | 45532877 | |||||||
chr22:45532961 | G | A | 320 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(317): Show |
321 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(318): Show |
intron_variant | MODIFIER | c.545-102G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 5/16 | chr22 | 45532961 | |||||||
chr22:45532999 | G | A | 2 | a0001c0001t0001g0319 a0001c0001t0008g0205 |
2 | HG00741.hp1 HG01099.hp1 |
intron_variant | MODIFIER | c.545-64G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 5/16 | chr22 | 45532999 | |||||||
chr22:45533200 | C | T | 1 | a0001c0001t0001g0018 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.646+36C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 6/16 | chr22 | 45533200 | |||||||
chr22:45533310 | C | T | 102 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0018 others(99): Show |
103 | HG00140.hp2 HG00408.hp1 HG00423.hp1 others(100): Show |
intron_variant | MODIFIER | c.646+146C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 6/16 | chr22 | 45533310 | |||||||
chr22:45533320 | T | C | 30 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(27): Show |
30 | HG00408.hp2 HG01069.hp1 HG01081.hp1 others(27): Show |
intron_variant | MODIFIER | c.646+156T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 6/16 | chr22 | 45533320 | |||||||
chr22:45533325 | C | T | 8 | a0001c0001t0001g0059 a0001c0001t0001g0133 a0001c0001t0001g0142 others(5): Show |
8 | HG02027.hp2 HG04204.hp1 NA18964.hp2 others(5): Show |
intron_variant | MODIFIER | c.646+161C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 6/16 | chr22 | 45533325 | |||||||
chr22:45533468 | C | T | 323 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(320): Show |
324 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(321): Show |
intron_variant | MODIFIER | c.647-293C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 6/16 | chr22 | 45533468 | |||||||
chr22:45533510 | C | T | 3 | a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 |
3 | NA18983.hp1 NA18993.hp1 NA19068.hp1 |
intron_variant | MODIFIER | c.647-251C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 6/16 | chr22 | 45533510 | |||||||
chr22:45533511 | G | A | 273 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0013 others(270): Show |
274 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(271): Show |
intron_variant | MODIFIER | c.647-250G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 6/16 | chr22 | 45533511 | |||||||
chr22:45533547 | A | C | 27 | a0001c0001t0001g0013 a0001c0001t0001g0049 a0001c0001t0001g0052 others(24): Show |
27 | HG00140.hp1 HG00323.hp2 HG01192.hp2 others(24): Show |
intron_variant | MODIFIER | c.647-214A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 6/16 | chr22 | 45533547 | |||||||
chr22:45533559 | A | G | 2 | a0001c0002t0003g0110 a0008c0019t0007g0111 |
2 | NA19030.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.647-202A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 6/16 | chr22 | 45533559 | |||||||
chr22:45533581 | G | T | 2 | a0001c0001t0001g0344 a0001c0001t0008g0333 |
2 | HG01109.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.647-180G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 6/16 | chr22 | 45533581 | |||||||
chr22:45533697 | T | C | 329 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(326): Show |
330 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(327): Show |
intron_variant | MODIFIER | c.647-64T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 6/16 | chr22 | 45533697 | |||||||
chr22:45533714 | TG | T | 104 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0018 others(101): Show |
105 | HG00140.hp2 HG00408.hp1 HG00423.hp1 others(102): Show |
intron_variant | MODIFIER | c.647-44delG | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr22 | 45533714 | ||||||
chr22:45533722 | T | C | 1 | a0001c0002t0001g0202 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.647-39T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 6/16 | chr22 | 45533722 | |||||||
chr22:45533734 | C | T | 22 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(19): Show |
22 | HG01069.hp1 HG01081.hp1 HG01257.hp2 others(19): Show |
intron_variant | MODIFIER | c.647-27C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 6/16 | chr22 | 45533734 | |||||||
chr22:45533738 | C | T | 1 | a0001c0001t0001g0150 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.647-23C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 6/16 | chr22 | 45533738 | |||||||
chr22:45533966 | A | G | 1 | a0001c0001t0001g0287 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.784+68A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 7/16 | chr22 | 45533966 | |||||||
chr22:45533986 | C | T | 2 | a0001c0002t0003g0110 a0008c0019t0007g0111 |
2 | NA19030.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.784+88C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 7/16 | chr22 | 45533986 | |||||||
chr22:45534194 | G | GT | 29 | a0001c0001t0001g0013 a0001c0001t0001g0049 a0001c0001t0001g0052 others(26): Show |
29 | HG00140.hp1 HG00323.hp2 HG01192.hp2 others(26): Show |
intron_variant | MODIFIER | c.784+297dupT | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr22 | 45534194 | ||||||
chr22:45534292 | C | CAAAAAAA others(4): Show |
1 | a0001c0001t0001g0113 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.784+412_784+422dup others(11): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr22 | 45534292 | ||||||
chr22:45534292 | C | CAAAAAAA others(6): Show |
1 | a0001c0001t0001g0261 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.784+410_784+422dup others(13): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr22 | 45534292 | ||||||
chr22:45534292 | C | CAAAAAAA others(7): Show |
5 | a0001c0001t0001g0108 a0001c0001t0001g0183 a0001c0001t0001g0212 others(2): Show |
5 | HG01106.hp2 HG01192.hp1 HG01358.hp2 others(2): Show |
intron_variant | MODIFIER | c.784+409_784+422dup others(14): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr22 | 45534292 | ||||||
chr22:45534292 | C | CAAAAAAA others(8): Show |
2 | a0001c0001t0001g0064 a0001c0001t0001g0091 |
2 | HG00544.hp2 NA19085.hp1 |
intron_variant | MODIFIER | c.784+408_784+422dup others(15): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr22 | 45534292 | ||||||
chr22:45534292 | C | CAAAAAAA others(11): Show |
1 | a0001c0001t0001g0176 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.784+405_784+422dup others(18): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr22 | 45534292 | ||||||
chr22:45534292 | C | CAAAAAAA others(14): Show |
1 | a0001c0001t0001g0322 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.784+402_784+422dup others(21): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr22 | 45534292 | ||||||
chr22:45534292 | C | CAAAAAAA others(23): Show |
1 | a0001c0001t0001g0340 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.784+422_784+423ins others(30): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr22 | 45534292 | ||||||
chr22:45534292 | CAA | C | 63 | a0001c0001t0001g0006 a0001c0001t0001g0036 a0001c0001t0001g0045 others(60): Show |
63 | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(60): Show |
intron_variant | MODIFIER | c.784+421_784+422del others(2): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr22 | 45534292 | ||||||
chr22:45534292 | CAAA | C | 164 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0019 others(161): Show |
165 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(162): Show |
intron_variant | MODIFIER | c.784+420_784+422del others(3): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr22 | 45534292 | ||||||
chr22:45534292 | CAAAA | C | 80 | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 others(77): Show |
80 | HG00140.hp1 HG00323.hp2 HG00438.hp2 others(77): Show |
intron_variant | MODIFIER | c.784+419_784+422del others(4): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr22 | 45534292 | ||||||
chr22:45534292 | CAAAAA | C | 7 | a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0001g0319 others(4): Show |
7 | HG00741.hp1 HG01099.hp1 HG02698.hp1 others(4): Show |
intron_variant | MODIFIER | c.784+418_784+422del others(5): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr22 | 45534292 | ||||||
chr22:45534292 | CAAAAAAA others(3): Show |
C | 2 | a0001c0001t0001g0257 a0001c0001t0002g0334 |
2 | HG01943.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.784+413_784+422del others(10): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr22 | 45534292 | ||||||
chr22:45534292 | CAAAAAAA others(4): Show |
C | 1 | a0001c0001t0001g0344 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.784+412_784+422del others(11): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr22 | 45534292 | ||||||
chr22:45534358 | G | C | 1 | a0001c0001t0001g0013 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.784+460G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 7/16 | chr22 | 45534358 | |||||||
chr22:45534609 | C | T | 2 | a0001c0001t0001g0219 a0007c0016t0001g0046 |
2 | NA18975.hp2 NA19005.hp2 |
intron_variant | MODIFIER | c.785-591C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 7/16 | chr22 | 45534609 | |||||||
chr22:45534623 | T | C | 1 | a0001c0002t0001g0202 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.785-577T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 7/16 | chr22 | 45534623 | |||||||
chr22:45534662 | A | G | 265 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0013 others(262): Show |
266 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(263): Show |
intron_variant | MODIFIER | c.785-538A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 7/16 | chr22 | 45534662 | |||||||
chr22:45534703 | C | T | 265 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0013 others(262): Show |
266 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(263): Show |
intron_variant | MODIFIER | c.785-497C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 7/16 | chr22 | 45534703 | |||||||
chr22:45534704 | A | G | 268 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0013 others(265): Show |
269 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(266): Show |
intron_variant | MODIFIER | c.785-496A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 7/16 | chr22 | 45534704 | |||||||
chr22:45534743 | T | G | 1 | a0001c0001t0001g0029 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.785-457T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 7/16 | chr22 | 45534743 | |||||||
chr22:45534850 | G | A | 3 | a0001c0001t0001g0343 a0001c0001t0002g0308 a0001c0004t0001g0339 |
3 | HG01496.hp1 HG02257.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.785-350G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 7/16 | chr22 | 45534850 | |||||||
chr22:45535103 | T | C | 1 | a0001c0001t0001g0207 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.785-97T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 7/16 | chr22 | 45535103 | |||||||
chr22:45535106 | G | A | 1 | a0001c0001t0001g0341 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.785-94G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 7/16 | chr22 | 45535106 | |||||||
chr22:45535351 | C | T | 1 | a0001c0002t0001g0010 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.922+14C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45535351 | |||||||
chr22:45535382 | C | T | 259 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0013 others(256): Show |
260 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(257): Show |
intron_variant | MODIFIER | c.922+45C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45535382 | |||||||
chr22:45535812 | G | T | 26 | a0001c0001t0001g0013 a0001c0001t0001g0052 a0001c0001t0001g0053 others(23): Show |
26 | HG00140.hp1 HG00323.hp2 HG01192.hp2 others(23): Show |
intron_variant | MODIFIER | c.922+475G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45535812 | |||||||
chr22:45536129 | G | A | 28 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(25): Show |
28 | HG00408.hp2 HG01069.hp1 HG01081.hp1 others(25): Show |
intron_variant | MODIFIER | c.922+792G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45536129 | |||||||
chr22:45536257 | C | T | 2 | a0001c0001t0001g0338 a0001c0001t0009g0279 |
2 | HG02615.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.922+920C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45536257 | |||||||
chr22:45536267 | C | A | 1 | a0001c0001t0001g0176 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.922+930C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45536267 | |||||||
chr22:45536312 | A | C | 1 | a0001c0001t0001g0177 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.922+975A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45536312 | |||||||
chr22:45536399 | C | T | 25 | a0001c0001t0001g0013 a0001c0001t0001g0052 a0001c0001t0001g0053 others(22): Show |
25 | HG00140.hp1 HG00323.hp2 HG01192.hp2 others(22): Show |
intron_variant | MODIFIER | c.922+1062C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45536399 | |||||||
chr22:45536440 | TTGTAGTT others(4): Show |
T | 2 | a0001c0001t0001g0338 a0001c0001t0009g0279 |
2 | HG02615.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.922+1114_922+1124d others(13): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr22 | 45536440 | ||||||
chr22:45536507 | G | C | 1 | a0001c0001t0001g0130 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.922+1170G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45536507 | |||||||
chr22:45536614 | A | T | 5 | a0001c0002t0001g0080 a0001c0002t0002g0105 a0001c0002t0002g0335 others(2): Show |
5 | HG02486.hp1 HG02965.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.922+1277A>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45536614 | |||||||
chr22:45536641 | T | G | 1 | a0001c0020t0002g0156 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.922+1304T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45536641 | |||||||
chr22:45536687 | C | T | 1 | a0001c0001t0001g0144 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.922+1350C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45536687 | |||||||
chr22:45536795 | A | G | 2 | a0001c0001t0001g0068 a0001c0001t0006g0305 |
2 | HG02258.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.922+1458A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45536795 | |||||||
chr22:45536870 | G | A | 1 | a0001c0001t0001g0189 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.922+1533G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45536870 | |||||||
chr22:45537121 | A | G | 1 | a0001c0001t0001g0068 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.922+1784A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45537121 | |||||||
chr22:45537122 | C | T | 1 | a0001c0001t0001g0176 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.922+1785C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45537122 | |||||||
chr22:45537168 | C | T | 1 | a0001c0001t0006g0305 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.922+1831C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45537168 | |||||||
chr22:45537325 | A | T | 1 | a0001c0001t0007g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.922+1988A>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45537325 | |||||||
chr22:45537389 | C | T | 3 | a0001c0001t0001g0344 a0001c0001t0008g0333 a0004c0007t0001g0083 |
3 | HG01109.hp2 HG02647.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.922+2052C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45537389 | |||||||
chr22:45537448 | G | A | 1 | a0001c0001t0001g0145 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.922+2111G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45537448 | |||||||
chr22:45537503 | C | T | 6 | a0001c0001t0002g0308 a0001c0001t0003g0098 a0001c0001t0004g0345 others(3): Show |
6 | HG01496.hp1 HG02257.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.922+2166C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45537503 | |||||||
chr22:45537575 | G | A | 1 | a0001c0001t0002g0318 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.922+2238G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45537575 | |||||||
chr22:45537619 | C | CA | 10 | a0001c0001t0001g0045 a0001c0001t0001g0082 a0001c0001t0001g0121 others(7): Show |
10 | HG01496.hp1 HG02257.hp2 HG02615.hp1 others(7): Show |
intron_variant | MODIFIER | c.922+2297dupA | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr22 | 45537619 | ||||||
chr22:45537619 | CA | C | 85 | a0001c0001t0001g0035 a0001c0001t0001g0089 a0001c0001t0001g0132 others(82): Show |
85 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(82): Show |
intron_variant | MODIFIER | c.922+2297delA | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr22 | 45537619 | ||||||
chr22:45537675 | G | A | 1 | a0001c0001t0001g0278 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.922+2338G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45537675 | |||||||
chr22:45537816 | C | T | 6 | a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0011 others(3): Show |
6 | HG00738.hp1 HG01069.hp2 HG01071.hp2 others(3): Show |
intron_variant | MODIFIER | c.922+2479C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45537816 | |||||||
chr22:45537817 | G | A | 5 | a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0106 others(2): Show |
5 | HG02055.hp2 HG02145.hp1 HG02486.hp2 others(2): Show |
intron_variant | MODIFIER | c.922+2480G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45537817 | |||||||
chr22:45537831 | G | A | 1 | a0001c0002t0001g0311 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.922+2494G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45537831 | |||||||
chr22:45537935 | C | T | 1 | a0001c0001t0001g0301 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.922+2598C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45537935 | |||||||
chr22:45538045 | T | G | 6 | a0001c0001t0002g0308 a0001c0001t0003g0098 a0001c0001t0004g0345 others(3): Show |
6 | HG01496.hp1 HG02257.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.922+2708T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45538045 | |||||||
chr22:45538070 | C | T | 2 | a0001c0001t0001g0020 a0001c0001t0001g0031 |
2 | HG01256.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.922+2733C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45538070 | |||||||
chr22:45538073 | C | A | 4 | a0001c0001t0001g0048 a0001c0001t0001g0100 a0001c0001t0005g0097 others(1): Show |
4 | NA18950.hp2 NA18975.hp1 NA19003.hp2 others(1): Show |
intron_variant | MODIFIER | c.922+2736C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45538073 | |||||||
chr22:45538378 | G | A | 3 | a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 |
3 | HG02602.hp1 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.923-2851G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45538378 | |||||||
chr22:45538420 | A | G | 3 | a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 |
3 | HG02602.hp1 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.923-2809A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45538420 | |||||||
chr22:45538483 | T | C | 1 | a0001c0002t0001g0214 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.923-2746T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45538483 | |||||||
chr22:45538508 | C | G | 44 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0020 others(41): Show |
44 | HG00438.hp2 HG00639.hp1 HG00642.hp1 others(41): Show |
intron_variant | MODIFIER | c.923-2721C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45538508 | |||||||
chr22:45538509 | A | C | 44 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0020 others(41): Show |
44 | HG00438.hp2 HG00639.hp1 HG00642.hp1 others(41): Show |
intron_variant | MODIFIER | c.923-2720A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45538509 | |||||||
chr22:45538540 | T | G | 80 | a0001c0001t0001g0320 a0001c0001t0002g0073 a0001c0002t0001g0002 others(77): Show |
80 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(77): Show |
intron_variant | MODIFIER | c.923-2689T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45538540 | |||||||
chr22:45538598 | A | G | 1 | a0001c0001t0001g0141 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.923-2631A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45538598 | |||||||
chr22:45538637 | G | A | 1 | a0001c0002t0001g0127 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.923-2592G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45538637 | |||||||
chr22:45538730 | C | T | 1 | a0001c0001t0001g0321 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.923-2499C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45538730 | |||||||
chr22:45538771 | G | A | 1 | a0001c0001t0001g0036 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.923-2458G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45538771 | |||||||
chr22:45538873 | C | G | 9 | a0001c0001t0001g0332 a0001c0001t0002g0201 a0001c0001t0003g0303 others(6): Show |
9 | HG01175.hp2 HG01891.hp1 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.923-2356C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45538873 | |||||||
chr22:45538932 | C | T | 6 | a0001c0001t0002g0308 a0001c0001t0003g0098 a0001c0001t0004g0345 others(3): Show |
6 | HG01496.hp1 HG02257.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.923-2297C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45538932 | |||||||
chr22:45539105 | T | C | 333 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(330): Show |
334 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(331): Show |
intron_variant | MODIFIER | c.923-2124T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45539105 | |||||||
chr22:45539121 | C | A | 78 | a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0002t0001g0008 others(75): Show |
78 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(75): Show |
intron_variant | MODIFIER | c.923-2108C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45539121 | |||||||
chr22:45539205 | C | CT | 101 | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 others(98): Show |
101 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(98): Show |
intron_variant | MODIFIER | c.923-2008dupT | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr22 | 45539205 | ||||||
chr22:45539205 | CT | C | 10 | a0001c0001t0001g0025 a0001c0001t0001g0069 a0001c0001t0001g0071 others(7): Show |
10 | HG02055.hp2 HG02145.hp1 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.923-2008delT | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr22 | 45539205 | ||||||
chr22:45539206 | T | G | 2 | a0001c0001t0001g0176 a0001c0001t0002g0222 |
2 | HG03688.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.923-2023T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45539206 | |||||||
chr22:45539346 | G | A | 1 | a0001c0001t0001g0298 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.923-1883G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45539346 | |||||||
chr22:45539421 | G | A | 1 | a0001c0002t0001g0008 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.923-1808G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45539421 | |||||||
chr22:45539431 | C | T | 79 | a0001c0001t0001g0257 a0001c0002t0001g0002 a0001c0002t0001g0007 others(76): Show |
79 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(76): Show |
intron_variant | MODIFIER | c.923-1798C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45539431 | |||||||
chr22:45539502 | G | T | 78 | a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0002t0001g0008 others(75): Show |
78 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(75): Show |
intron_variant | MODIFIER | c.923-1727G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45539502 | |||||||
chr22:45539526 | A | G | 1 | a0001c0001t0001g0171 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.923-1703A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45539526 | |||||||
chr22:45539555 | T | C | 2 | a0001c0002t0002g0274 a0001c0002t0006g0337 |
2 | HG03041.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.923-1674T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45539555 | |||||||
chr22:45539578 | C | T | 10 | a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0022 others(7): Show |
10 | HG00639.hp1 HG00642.hp1 HG01256.hp1 others(7): Show |
intron_variant | MODIFIER | c.923-1651C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45539578 | |||||||
chr22:45539694 | G | C | 1 | a0001c0001t0001g0119 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.923-1535G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45539694 | |||||||
chr22:45539872 | C | A | 1 | a0001c0001t0001g0069 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.923-1357C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45539872 | |||||||
chr22:45540086 | T | G | 1 | a0001c0001t0004g0112 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.923-1143T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45540086 | |||||||
chr22:45540205 | C | T | 1 | a0001c0001t0010g0206 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.923-1024C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45540205 | |||||||
chr22:45540241 | C | T | 78 | a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0002t0001g0008 others(75): Show |
78 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(75): Show |
intron_variant | MODIFIER | c.923-988C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45540241 | |||||||
chr22:45540263 | A | C | 1 | a0001c0001t0003g0198 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.923-966A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45540263 | |||||||
chr22:45540266 | G | A | 1 | a0001c0004t0001g0316 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.923-963G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45540266 | |||||||
chr22:45540291 | C | T | 3 | a0001c0001t0001g0344 a0001c0001t0008g0333 a0004c0007t0001g0083 |
3 | HG01109.hp2 HG02647.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.923-938C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45540291 | |||||||
chr22:45540292 | G | T | 77 | a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0002t0001g0008 others(74): Show |
77 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(74): Show |
intron_variant | MODIFIER | c.923-937G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45540292 | |||||||
chr22:45540358 | A | G | 1 | a0001c0001t0001g0261 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.923-871A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45540358 | |||||||
chr22:45540382 | C | T | 11 | a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0106 others(8): Show |
11 | HG01109.hp2 HG02055.hp2 HG02145.hp1 others(8): Show |
intron_variant | MODIFIER | c.923-847C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45540382 | |||||||
chr22:45540384 | C | T | 41 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0020 others(38): Show |
41 | HG00438.hp2 HG00639.hp1 HG00642.hp1 others(38): Show |
intron_variant | MODIFIER | c.923-845C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45540384 | |||||||
chr22:45540440 | A | G | 56 | a0001c0001t0001g0013 a0001c0001t0001g0049 a0001c0001t0001g0052 others(53): Show |
56 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(53): Show |
intron_variant | MODIFIER | c.923-789A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45540440 | |||||||
chr22:45540470 | G | A | 78 | a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0002t0001g0008 others(75): Show |
78 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(75): Show |
intron_variant | MODIFIER | c.923-759G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45540470 | |||||||
chr22:45540506 | C | G | 1 | a0001c0004t0001g0339 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.923-723C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45540506 | |||||||
chr22:45540567 | G | T | 3 | a0001c0001t0001g0176 a0001c0001t0001g0340 a0001c0001t0002g0222 |
3 | HG02280.hp1 HG03688.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.923-662G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45540567 | |||||||
chr22:45540647 | G | T | 54 | a0001c0001t0001g0013 a0001c0001t0001g0052 a0001c0001t0001g0053 others(51): Show |
54 | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(51): Show |
intron_variant | MODIFIER | c.923-582G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45540647 | |||||||
chr22:45540719 | C | T | 1 | a0001c0002t0001g0007 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.923-510C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45540719 | |||||||
chr22:45540763 | C | T | 1 | a0002c0003t0001g0074 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.923-466C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45540763 | |||||||
chr22:45540839 | C | T | 1 | a0001c0001t0001g0100 | 1 | NA19086.hp2 | intron_variant | MODIFIER | c.923-390C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45540839 | |||||||
chr22:45540978 | C | T | 1 | a0005c0010t0002g0190 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.923-251C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45540978 | |||||||
chr22:45541071 | C | G | 3 | a0001c0001t0001g0184 a0001c0018t0002g0095 a0004c0007t0002g0084 |
3 | HG02258.hp1 HG02896.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.923-158C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45541071 | |||||||
chr22:45541079 | C | T | 4 | a0001c0001t0001g0217 a0001c0001t0001g0298 a0001c0001t0001g0299 others(1): Show |
4 | HG01081.hp1 HG01928.hp1 HG01993.hp1 others(1): Show |
intron_variant | MODIFIER | c.923-150C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45541079 | |||||||
chr22:45541141 | G | A | 2 | a0001c0001t0001g0319 a0001c0001t0008g0205 |
2 | HG00741.hp1 HG01099.hp1 |
intron_variant | MODIFIER | c.923-88G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45541141 | |||||||
chr22:45541181 | G | A | 78 | a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0002t0001g0008 others(75): Show |
78 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(75): Show |
intron_variant | MODIFIER | c.923-48G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 8/16 | chr22 | 45541181 | |||||||
chr22:45541498 | C | T | 78 | a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0002t0001g0008 others(75): Show |
78 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(75): Show |
intron_variant | MODIFIER | c.1066+126C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 9/16 | chr22 | 45541498 | |||||||
chr22:45541504 | G | A | 78 | a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0002t0001g0008 others(75): Show |
78 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(75): Show |
intron_variant | MODIFIER | c.1066+132G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 9/16 | chr22 | 45541504 | |||||||
chr22:45541838 | C | T | 1 | a0001c0001t0001g0037 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.1067-317C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 9/16 | chr22 | 45541838 | |||||||
chr22:45542053 | T | C | 10 | a0001c0001t0001g0072 a0001c0001t0001g0113 a0001c0001t0001g0189 others(7): Show |
10 | HG00642.hp2 HG01884.hp2 HG02809.hp1 others(7): Show |
intron_variant | MODIFIER | c.1067-102T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 9/16 | chr22 | 45542053 | |||||||
chr22:45542324 | C | T | 1 | a0001c0001t0001g0340 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1195+41C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 10/16 | chr22 | 45542324 | |||||||
chr22:45542458 | A | G | 87 | a0001c0001t0001g0257 a0001c0001t0002g0073 a0001c0001t0002g0308 others(84): Show |
87 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(84): Show |
intron_variant | MODIFIER | c.1195+175A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 10/16 | chr22 | 45542458 | |||||||
chr22:45542589 | A | C | 1 | a0001c0001t0001g0207 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.1195+306A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 10/16 | chr22 | 45542589 | |||||||
chr22:45542704 | C | T | 79 | a0001c0001t0001g0320 a0001c0002t0001g0002 a0001c0002t0001g0007 others(76): Show |
79 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(76): Show |
intron_variant | MODIFIER | c.1195+421C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 10/16 | chr22 | 45542704 | |||||||
chr22:45542966 | T | C | 160 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0013 others(157): Show |
161 | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(158): Show |
intron_variant | MODIFIER | c.1196-435T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 10/16 | chr22 | 45542966 | |||||||
chr22:45543138 | A | T | 32 | a0001c0001t0001g0006 a0001c0001t0001g0036 a0001c0001t0001g0076 others(29): Show |
32 | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(29): Show |
intron_variant | MODIFIER | c.1196-263A>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 10/16 | chr22 | 45543138 | |||||||
chr22:45543616 | G | A | 6 | a0001c0001t0002g0308 a0001c0001t0003g0098 a0001c0001t0004g0345 others(3): Show |
6 | HG01496.hp1 HG02257.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.1321+90G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45543616 | |||||||
chr22:45543694 | C | G | 1 | a0001c0001t0006g0305 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1321+168C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45543694 | |||||||
chr22:45544074 | G | C | 1 | a0001c0001t0001g0257 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1321+548G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45544074 | |||||||
chr22:45544091 | CT | C | 95 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0018 others(92): Show |
96 | HG00140.hp2 HG00408.hp1 HG00423.hp1 others(93): Show |
intron_variant | MODIFIER | c.1321+578delT | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr22 | 45544091 | ||||||
chr22:45544109 | C | T | 1 | a0001c0001t0001g0163 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.1321+583C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45544109 | |||||||
chr22:45544110 | G | A | 1 | a0001c0002t0001g0092 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.1321+584G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45544110 | |||||||
chr22:45544141 | C | T | 1 | a0001c0001t0001g0261 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.1321+615C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45544141 | |||||||
chr22:45544275 | C | T | 79 | a0001c0001t0001g0257 a0001c0001t0001g0320 a0001c0001t0002g0073 others(76): Show |
79 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(76): Show |
intron_variant | MODIFIER | c.1321+749C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45544275 | |||||||
chr22:45544276 | A | G | 79 | a0001c0001t0001g0257 a0001c0001t0001g0320 a0001c0001t0002g0073 others(76): Show |
79 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(76): Show |
intron_variant | MODIFIER | c.1321+750A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45544276 | |||||||
chr22:45544277 | G | A | 79 | a0001c0001t0001g0257 a0001c0001t0001g0320 a0001c0001t0002g0073 others(76): Show |
79 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(76): Show |
intron_variant | MODIFIER | c.1321+751G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45544277 | |||||||
chr22:45544284 | C | A | 79 | a0001c0001t0001g0257 a0001c0001t0001g0320 a0001c0001t0002g0073 others(76): Show |
79 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(76): Show |
intron_variant | MODIFIER | c.1321+758C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45544284 | |||||||
chr22:45544342 | C | A | 1 | a0001c0002t0001g0202 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1321+816C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45544342 | |||||||
chr22:45544399 | C | T | 1 | a0001c0001t0001g0107 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.1321+873C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45544399 | |||||||
chr22:45544407 | A | C | 2 | a0001c0001t0001g0026 a0001c0001t0001g0027 |
2 | HG00140.hp2 HG02735.hp2 |
intron_variant | MODIFIER | c.1321+881A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45544407 | |||||||
chr22:45544583 | A | G | 45 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0020 others(42): Show |
45 | HG00438.hp2 HG00639.hp1 HG00642.hp1 others(42): Show |
intron_variant | MODIFIER | c.1321+1057A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45544583 | |||||||
chr22:45544730 | T | C | 1 | a0001c0001t0008g0333 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.1321+1204T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45544730 | |||||||
chr22:45544887 | C | T | 1 | a0001c0001t0001g0331 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.1321+1361C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45544887 | |||||||
chr22:45544901 | G | A | 2 | a0001c0001t0009g0251 a0005c0010t0002g0190 |
2 | HG01433.hp2 HG02559.hp2 |
intron_variant | MODIFIER | c.1321+1375G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45544901 | |||||||
chr22:45544953 | A | G | 1 | a0004c0007t0001g0083 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1321+1427A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45544953 | |||||||
chr22:45544956 | G | A | 1 | a0001c0001t0009g0251 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1321+1430G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45544956 | |||||||
chr22:45544960 | A | G | 1 | a0001c0001t0003g0098 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1321+1434A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45544960 | |||||||
chr22:45545008 | G | A | 77 | a0001c0001t0002g0073 a0001c0002t0001g0002 a0001c0002t0001g0007 others(74): Show |
77 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(74): Show |
intron_variant | MODIFIER | c.1321+1482G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45545008 | |||||||
chr22:45545054 | A | G | 79 | a0001c0001t0001g0257 a0001c0001t0001g0320 a0001c0001t0002g0073 others(76): Show |
79 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(76): Show |
intron_variant | MODIFIER | c.1321+1528A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45545054 | |||||||
chr22:45545367 | T | C | 3 | a0001c0001t0001g0320 a0001c0001t0001g0344 a0001c0001t0008g0333 |
3 | HG01109.hp2 HG02647.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1322-1718T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45545367 | |||||||
chr22:45545563 | A | G | 80 | a0001c0001t0001g0257 a0001c0001t0001g0320 a0001c0001t0002g0073 others(77): Show |
80 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(77): Show |
intron_variant | MODIFIER | c.1322-1522A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45545563 | |||||||
chr22:45545596 | G | A | 227 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0013 others(224): Show |
228 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(225): Show |
intron_variant | MODIFIER | c.1322-1489G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45545596 | |||||||
chr22:45545654 | G | A | 9 | a0001c0001t0001g0072 a0001c0001t0001g0113 a0001c0001t0001g0189 others(6): Show |
9 | HG00642.hp2 HG01884.hp2 HG02809.hp1 others(6): Show |
intron_variant | MODIFIER | c.1322-1431G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45545654 | |||||||
chr22:45545897 | C | T | 3 | a0001c0001t0001g0072 a0001c0001t0001g0195 a0001c0001t0002g0096 |
3 | HG00642.hp2 HG02922.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.1322-1188C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45545897 | |||||||
chr22:45545927 | T | C | 279 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(276): Show |
280 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(277): Show |
intron_variant | MODIFIER | c.1322-1158T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45545927 | |||||||
chr22:45545973 | C | T | 6 | a0001c0001t0001g0072 a0001c0001t0001g0195 a0001c0001t0001g0322 others(3): Show |
6 | HG00642.hp2 HG02809.hp1 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.1322-1112C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45545973 | |||||||
chr22:45546179 | C | CAA | 268 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(265): Show |
269 | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(266): Show |
intron_variant | MODIFIER | c.1322-896_1322-895d others(4): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr22 | 45546179 | ||||||
chr22:45546248 | C | T | 1 | a0001c0001t0001g0213 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1322-837C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45546248 | |||||||
chr22:45546299 | C | G | 2 | a0001c0001t0001g0319 a0001c0001t0008g0205 |
2 | HG00741.hp1 HG01099.hp1 |
intron_variant | MODIFIER | c.1322-786C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45546299 | |||||||
chr22:45546341 | C | T | 1 | a0001c0001t0001g0218 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.1322-744C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45546341 | |||||||
chr22:45546396 | T | C | 4 | a0001c0002t0001g0262 a0001c0002t0001g0284 a0001c0002t0001g0311 others(1): Show |
4 | HG00323.hp1 HG01109.hp1 HG01261.hp1 others(1): Show |
intron_variant | MODIFIER | c.1322-689T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45546396 | |||||||
chr22:45546421 | G | A | 1 | a0001c0002t0001g0109 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.1322-664G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45546421 | |||||||
chr22:45546449 | C | T | 3 | a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0002g0058 |
3 | HG01256.hp2 HG02109.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.1322-636C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45546449 | |||||||
chr22:45546457 | G | A | 4 | a0001c0001t0001g0187 a0001c0001t0001g0210 a0001c0001t0001g0272 others(1): Show |
4 | HG02145.hp2 NA18966.hp1 NA19000.hp2 others(1): Show |
intron_variant | MODIFIER | c.1322-628G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45546457 | |||||||
chr22:45546494 | A | G | 13 | a0001c0001t0001g0119 a0001c0001t0001g0149 a0001c0001t0001g0150 others(10): Show |
13 | HG00280.hp2 HG01167.hp2 HG01175.hp1 others(10): Show |
intron_variant | MODIFIER | c.1322-591A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45546494 | |||||||
chr22:45546502 | C | A | 4 | a0001c0001t0001g0049 a0001c0001t0001g0245 a0001c0001t0001g0246 others(1): Show |
4 | HG02602.hp1 HG03490.hp2 HG03492.hp1 others(1): Show |
intron_variant | MODIFIER | c.1322-583C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45546502 | |||||||
chr22:45546514 | G | A | 1 | a0004c0007t0001g0083 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1322-571G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45546514 | |||||||
chr22:45546692 | C | T | 1 | a0001c0002t0002g0304 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1322-393C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45546692 | |||||||
chr22:45546796 | G | A | 1 | a0008c0019t0007g0111 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.1322-289G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45546796 | |||||||
chr22:45546846 | G | T | 294 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(291): Show |
295 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(292): Show |
intron_variant | MODIFIER | c.1322-239G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45546846 | |||||||
chr22:45546849 | C | T | 1 | a0001c0001t0001g0122 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.1322-236C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45546849 | |||||||
chr22:45546876 | G | A | 1 | a0001c0001t0001g0321 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.1322-209G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45546876 | |||||||
chr22:45546928 | G | A | 2 | a0001c0001t0001g0053 a0001c0001t0001g0281 |
2 | HG00738.hp2 HG02738.hp1 |
intron_variant | MODIFIER | c.1322-157G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45546928 | |||||||
chr22:45546938 | C | T | 2 | a0001c0001t0001g0189 a0001c0024t0001g0191 |
2 | HG01884.hp2 HG02572.hp1 |
intron_variant | MODIFIER | c.1322-147C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45546938 | |||||||
chr22:45546951 | C | T | 2 | a0001c0001t0001g0136 a0001c0001t0001g0218 |
2 | NA18612.hp1 NA19090.hp1 |
intron_variant | MODIFIER | c.1322-134C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 11/16 | chr22 | 45546951 | |||||||
chr22:45547213 | G | A | 1 | a0001c0001t0001g0271 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.1441+9G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 12/16 | chr22 | 45547213 | |||||||
chr22:45547235 | A | G | 3 | a0001c0001t0001g0340 a0001c0002t0002g0274 a0001c0002t0006g0337 |
3 | HG02280.hp1 HG03041.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.1441+31A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 12/16 | chr22 | 45547235 | |||||||
chr22:45547268 | C | T | 1 | a0001c0001t0001g0239 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.1441+64C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 12/16 | chr22 | 45547268 | |||||||
chr22:45547323 | A | G | 290 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(287): Show |
291 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(288): Show |
intron_variant | MODIFIER | c.1441+119A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 12/16 | chr22 | 45547323 | |||||||
chr22:45547386 | G | GT | 69 | a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0050 others(66): Show |
69 | HG00558.hp1 HG00597.hp1 HG00738.hp1 others(66): Show |
intron_variant | MODIFIER | c.1441+209dupT | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr22 | 45547386 | ||||||
chr22:45547386 | G | GTT | 17 | a0001c0001t0001g0014 a0001c0001t0001g0047 a0001c0001t0001g0051 others(14): Show |
17 | HG00438.hp2 HG00597.hp2 HG01071.hp1 others(14): Show |
intron_variant | MODIFIER | c.1441+208_1441+209d others(4): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr22 | 45547386 | ||||||
chr22:45547386 | GT | G | 91 | a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0022 others(88): Show |
91 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(88): Show |
intron_variant | MODIFIER | c.1441+209delT | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr22 | 45547386 | ||||||
chr22:45547386 | GTT | G | 62 | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0019 others(59): Show |
63 | HG00423.hp1 HG00639.hp2 HG01069.hp1 others(60): Show |
intron_variant | MODIFIER | c.1441+208_1441+209d others(4): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr22 | 45547386 | ||||||
chr22:45547561 | A | T | 5 | a0001c0001t0001g0053 a0001c0001t0001g0281 a0001c0001t0001g0310 others(2): Show |
5 | HG00738.hp2 HG01106.hp2 HG01884.hp1 others(2): Show |
intron_variant | MODIFIER | c.1441+357A>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 12/16 | chr22 | 45547561 | |||||||
chr22:45547679 | C | T | 3 | a0001c0001t0001g0189 a0001c0001t0008g0333 a0001c0024t0001g0191 |
3 | HG01109.hp2 HG01884.hp2 HG02572.hp1 |
intron_variant | MODIFIER | c.1441+475C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 12/16 | chr22 | 45547679 | |||||||
chr22:45547767 | C | T | 9 | a0001c0001t0001g0113 a0001c0001t0003g0098 a0001c0001t0004g0345 others(6): Show |
9 | HG02615.hp1 HG02622.hp2 HG02886.hp2 others(6): Show |
intron_variant | MODIFIER | c.1441+563C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 12/16 | chr22 | 45547767 | |||||||
chr22:45547797 | G | A | 87 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0020 others(84): Show |
87 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(84): Show |
intron_variant | MODIFIER | c.1441+593G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 12/16 | chr22 | 45547797 | |||||||
chr22:45547977 | G | C | 2 | a0001c0002t0001g0202 a0001c0014t0001g0116 |
2 | HG02622.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1442-636G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 12/16 | chr22 | 45547977 | |||||||
chr22:45548072 | C | G | 1 | a0001c0001t0001g0154 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.1442-541C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 12/16 | chr22 | 45548072 | |||||||
chr22:45548119 | G | A | 1 | a0006c0011t0002g0237 | 1 | NA18975.hp1 | intron_variant | MODIFIER | c.1442-494G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 12/16 | chr22 | 45548119 | |||||||
chr22:45548291 | C | T | 230 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(227): Show |
230 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(227): Show |
intron_variant | MODIFIER | c.1442-322C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 12/16 | chr22 | 45548291 | |||||||
chr22:45548389 | C | T | 6 | a0001c0001t0002g0308 a0001c0001t0003g0098 a0001c0002t0003g0110 others(3): Show |
6 | HG01496.hp1 HG02257.hp2 HG02896.hp1 others(3): Show |
intron_variant | MODIFIER | c.1442-224C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 12/16 | chr22 | 45548389 | |||||||
chr22:45548801 | C | T | 4 | a0001c0001t0001g0104 a0001c0001t0001g0331 a0001c0002t0001g0273 others(1): Show |
4 | HG02451.hp2 HG03486.hp2 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.1573+57C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 13/16 | chr22 | 45548801 | |||||||
chr22:45549024 | C | G | 2 | a0001c0001t0001g0018 a0001c0001t0008g0205 |
2 | HG01099.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.1573+280C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 13/16 | chr22 | 45549024 | |||||||
chr22:45549071 | C | A | 131 | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 others(128): Show |
131 | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(128): Show |
intron_variant | MODIFIER | c.1573+327C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 13/16 | chr22 | 45549071 | |||||||
chr22:45549100 | G | A | 30 | a0001c0001t0001g0042 a0001c0001t0001g0055 a0001c0001t0001g0056 others(27): Show |
30 | HG00408.hp2 HG00738.hp1 HG01069.hp1 others(27): Show |
intron_variant | MODIFIER | c.1573+356G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 13/16 | chr22 | 45549100 | |||||||
chr22:45549334 | C | T | 1 | a0001c0001t0002g0334 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.1573+590C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 13/16 | chr22 | 45549334 | |||||||
chr22:45549345 | T | G | 1 | a0001c0001t0001g0145 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.1573+601T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 13/16 | chr22 | 45549345 | |||||||
chr22:45549390 | A | G | 4 | a0001c0001t0001g0104 a0001c0001t0001g0330 a0001c0002t0002g0314 others(1): Show |
4 | HG01433.hp2 HG02818.hp1 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.1573+646A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 13/16 | chr22 | 45549390 | |||||||
chr22:45549688 | G | A | 41 | a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0042 others(38): Show |
41 | HG00408.hp2 HG00558.hp1 HG00642.hp2 others(38): Show |
intron_variant | MODIFIER | c.1574-804G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 13/16 | chr22 | 45549688 | |||||||
chr22:45549727 | A | G | 1 | a0001c0001t0001g0066 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.1574-765A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 13/16 | chr22 | 45549727 | |||||||
chr22:45549836 | T | C | 1 | a0001c0001t0001g0025 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1574-656T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 13/16 | chr22 | 45549836 | |||||||
chr22:45549881 | C | T | 1 | a0001c0002t0002g0335 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.1574-611C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 13/16 | chr22 | 45549881 | |||||||
chr22:45550014 | G | A | 1 | a0008c0019t0007g0111 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.1574-478G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 13/16 | chr22 | 45550014 | |||||||
chr22:45550034 | G | A | 44 | a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0042 others(41): Show |
44 | HG00408.hp2 HG00558.hp1 HG00642.hp2 others(41): Show |
intron_variant | MODIFIER | c.1574-458G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 13/16 | chr22 | 45550034 | |||||||
chr22:45550256 | C | T | 1 | a0005c0010t0002g0190 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.1574-236C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 13/16 | chr22 | 45550256 | |||||||
chr22:45550314 | C | T | 2 | a0001c0001t0001g0344 a0001c0001t0003g0198 |
2 | HG02647.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.1574-178C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 13/16 | chr22 | 45550314 | |||||||
chr22:45550385 | C | A | 2 | a0001c0001t0001g0344 a0001c0001t0003g0198 |
2 | HG02647.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.1574-107C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 13/16 | chr22 | 45550385 | |||||||
chr22:45550385 | C | T | 5 | a0001c0001t0001g0189 a0001c0001t0001g0330 a0001c0024t0001g0191 others(2): Show |
5 | HG01884.hp2 HG02258.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.1574-107C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 13/16 | chr22 | 45550385 | |||||||
chr22:45550734 | G | C | 1 | a0001c0002t0001g0283 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.1697+119G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45550734 | |||||||
chr22:45550974 | G | C | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+359G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45550974 | |||||||
chr22:45550975 | A | T | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+360A>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45550975 | |||||||
chr22:45550978 | G | C | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+363G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45550978 | |||||||
chr22:45550979 | A | T | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+364A>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45550979 | |||||||
chr22:45550980 | G | C | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+365G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45550980 | |||||||
chr22:45550982 | T | A | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+367T>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45550982 | |||||||
chr22:45550983 | G | A | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+368G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45550983 | |||||||
chr22:45550989 | G | A | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+374G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45550989 | |||||||
chr22:45550990 | T | C | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+375T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45550990 | |||||||
chr22:45550992 | G | A | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+377G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45550992 | |||||||
chr22:45550996 | T | C | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+381T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45550996 | |||||||
chr22:45550998 | T | G | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+383T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45550998 | |||||||
chr22:45550999 | C | A | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+384C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45550999 | |||||||
chr22:45551000 | T | G | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+385T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45551000 | |||||||
chr22:45551001 | C | G | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+386C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45551001 | |||||||
chr22:45551002 | C | G | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+387C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45551002 | |||||||
chr22:45551004 | T | G | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+389T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45551004 | |||||||
chr22:45551011 | C | G | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+396C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45551011 | |||||||
chr22:45551012 | C | A | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+397C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45551012 | |||||||
chr22:45551017 | C | A | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+402C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45551017 | |||||||
chr22:45551018 | C | G | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+403C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45551018 | |||||||
chr22:45551021 | G | A | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+406G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45551021 | |||||||
chr22:45551024 | G | T | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+409G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45551024 | |||||||
chr22:45551025 | C | T | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+410C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45551025 | |||||||
chr22:45551027 | G | T | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+412G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45551027 | |||||||
chr22:45551028 | A | C | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+413A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45551028 | |||||||
chr22:45551030 | G | C | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+415G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45551030 | |||||||
chr22:45551032 | G | C | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+417G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45551032 | |||||||
chr22:45551033 | A | T | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+418A>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45551033 | |||||||
chr22:45551037 | G | C | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+422G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45551037 | |||||||
chr22:45551038 | T | C | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+423T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45551038 | |||||||
chr22:45551040 | G | C | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+425G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45551040 | |||||||
chr22:45551042 | A | T | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+427A>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45551042 | |||||||
chr22:45551043 | C | T | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+428C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45551043 | |||||||
chr22:45551053 | A | G | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+438A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45551053 | |||||||
chr22:45551054 | G | A | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+439G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45551054 | |||||||
chr22:45551056 | T | A | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+441T>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45551056 | |||||||
chr22:45551059 | C | A | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+444C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45551059 | |||||||
chr22:45551060 | C | G | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+445C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45551060 | |||||||
chr22:45551062 | C | T | 1 | a0001c0002t0001g0065 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1697+447C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45551062 | |||||||
chr22:45551109 | T | A | 1 | a0001c0001t0001g0167 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1697+494T>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45551109 | |||||||
chr22:45551140 | C | T | 1 | a0001c0001t0001g0013 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1697+525C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45551140 | |||||||
chr22:45551529 | C | T | 1 | a0001c0005t0007g0085 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.1697+914C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45551529 | |||||||
chr22:45551592 | C | T | 2 | a0001c0001t0001g0121 a0001c0001t0001g0166 |
2 | NA18974.hp1 NA18989.hp2 |
intron_variant | MODIFIER | c.1697+977C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45551592 | |||||||
chr22:45551911 | G | A | 10 | a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0064 others(7): Show |
10 | HG00544.hp2 HG00609.hp1 HG00609.hp2 others(7): Show |
intron_variant | MODIFIER | c.1697+1296G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45551911 | |||||||
chr22:45551959 | C | A | 51 | a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0042 others(48): Show |
51 | HG00408.hp2 HG00558.hp1 HG00642.hp2 others(48): Show |
intron_variant | MODIFIER | c.1697+1344C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45551959 | |||||||
chr22:45551995 | C | G | 2 | a0001c0002t0001g0273 a0001c0005t0001g0087 |
2 | HG02451.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.1697+1380C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45551995 | |||||||
chr22:45552222 | A | C | 2 | a0001c0001t0001g0344 a0001c0001t0003g0198 |
2 | HG02647.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.1697+1607A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45552222 | |||||||
chr22:45552223 | G | C | 2 | a0001c0001t0001g0344 a0001c0001t0003g0198 |
2 | HG02647.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.1697+1608G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45552223 | |||||||
chr22:45552225 | G | T | 1 | a0001c0001t0001g0338 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1697+1610G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45552225 | |||||||
chr22:45552239 | G | C | 1 | a0001c0001t0001g0068 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1697+1624G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45552239 | |||||||
chr22:45552273 | G | C | 6 | a0001c0001t0001g0049 a0001c0001t0001g0113 a0001c0001t0001g0245 others(3): Show |
6 | HG01943.hp2 HG02280.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.1697+1658G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45552273 | |||||||
chr22:45552418 | G | A | 1 | a0001c0001t0001g0184 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1697+1803G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45552418 | |||||||
chr22:45552465 | C | G | 4 | a0001c0001t0001g0089 a0001c0001t0001g0323 a0001c0001t0001g0343 others(1): Show |
4 | HG02572.hp2 HG06807.hp1 NA19240.hp1 others(1): Show |
intron_variant | MODIFIER | c.1697+1850C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45552465 | |||||||
chr22:45552493 | C | T | 6 | a0001c0001t0001g0049 a0001c0001t0001g0113 a0001c0001t0001g0245 others(3): Show |
6 | HG01943.hp2 HG02280.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.1697+1878C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45552493 | |||||||
chr22:45552688 | T | C | 2 | a0001c0001t0001g0078 a0001c0001t0001g0079 |
2 | NA18945.hp2 NA19068.hp2 |
intron_variant | MODIFIER | c.1697+2073T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45552688 | |||||||
chr22:45552697 | T | C | 1 | a0001c0002t0001g0092 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.1697+2082T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45552697 | |||||||
chr22:45552871 | G | C | 2 | a0001c0013t0001g0204 a0003c0026t0001g0003 |
2 | HG02055.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.1697+2256G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45552871 | |||||||
chr22:45553095 | G | C | 2 | a0001c0001t0004g0306 a0001c0009t0004g0180 |
2 | HG02886.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.1697+2480G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45553095 | |||||||
chr22:45553112 | C | T | 2 | a0001c0001t0001g0018 a0001c0001t0001g0068 |
2 | HG03139.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1697+2497C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45553112 | |||||||
chr22:45553388 | G | T | 1 | a0001c0001t0001g0101 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.1697+2773G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45553388 | |||||||
chr22:45553396 | G | A | 1 | a0001c0001t0001g0193 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1697+2781G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45553396 | |||||||
chr22:45553406 | C | T | 1 | a0001c0001t0001g0144 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.1697+2791C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45553406 | |||||||
chr22:45553411 | A | G | 304 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(301): Show |
305 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(302): Show |
intron_variant | MODIFIER | c.1697+2796A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45553411 | |||||||
chr22:45553413 | G | A | 2 | a0001c0001t0001g0213 a0001c0004t0001g0123 |
2 | HG00408.hp1 HG00438.hp1 |
intron_variant | MODIFIER | c.1697+2798G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45553413 | |||||||
chr22:45553427 | T | C | 39 | a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0104 others(36): Show |
39 | HG01243.hp2 HG01433.hp2 HG01496.hp1 others(36): Show |
intron_variant | MODIFIER | c.1697+2812T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45553427 | |||||||
chr22:45553507 | C | A | 1 | a0001c0001t0011g0060 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.1697+2892C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45553507 | |||||||
chr22:45553525 | T | C | 6 | a0001c0001t0001g0322 a0001c0001t0003g0230 a0001c0001t0004g0306 others(3): Show |
6 | HG02886.hp1 HG02922.hp2 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.1697+2910T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45553525 | |||||||
chr22:45553731 | A | T | 2 | a0001c0001t0001g0312 a0001c0001t0008g0333 |
2 | HG01109.hp2 HG02630.hp1 |
intron_variant | MODIFIER | c.1697+3116A>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45553731 | |||||||
chr22:45553833 | C | T | 1 | a0001c0001t0001g0256 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.1697+3218C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45553833 | |||||||
chr22:45553908 | C | T | 4 | a0001c0001t0001g0069 a0001c0001t0001g0106 a0001c0001t0002g0270 others(1): Show |
4 | HG02055.hp2 HG02145.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.1697+3293C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45553908 | |||||||
chr22:45554382 | G | A | 7 | a0001c0001t0001g0089 a0001c0001t0001g0189 a0001c0001t0001g0343 others(4): Show |
7 | HG01884.hp2 HG02559.hp2 HG02809.hp1 others(4): Show |
intron_variant | MODIFIER | c.1697+3767G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45554382 | |||||||
chr22:45554388 | C | T | 6 | a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0278 others(3): Show |
6 | HG02572.hp1 HG02647.hp2 HG02717.hp2 others(3): Show |
intron_variant | MODIFIER | c.1697+3773C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45554388 | |||||||
chr22:45554461 | G | A | 3 | a0001c0001t0001g0053 a0001c0001t0001g0093 a0001c0001t0002g0275 |
3 | HG01071.hp1 HG02738.hp1 HG03927.hp1 |
intron_variant | MODIFIER | c.1697+3846G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45554461 | |||||||
chr22:45554523 | T | C | 1 | a0001c0001t0001g0215 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.1697+3908T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45554523 | |||||||
chr22:45554590 | G | A | 34 | a0001c0001t0001g0018 a0001c0001t0001g0068 a0001c0001t0001g0071 others(31): Show |
34 | HG01243.hp2 HG01433.hp2 HG01496.hp1 others(31): Show |
intron_variant | MODIFIER | c.1697+3975G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45554590 | |||||||
chr22:45554678 | G | A | 1 | a0001c0001t0001g0307 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1697+4063G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45554678 | |||||||
chr22:45554694 | C | T | 2 | a0001c0002t0001g0202 a0001c0014t0001g0116 |
2 | HG02622.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1697+4079C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45554694 | |||||||
chr22:45554793 | A | G | 1 | a0001c0001t0001g0113 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1697+4178A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45554793 | |||||||
chr22:45554889 | G | A | 1 | a0001c0002t0001g0007 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.1697+4274G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45554889 | |||||||
chr22:45554923 | G | A | 196 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(193): Show |
196 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(193): Show |
intron_variant | MODIFIER | c.1697+4308G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45554923 | |||||||
chr22:45554964 | TATACAGG others(35): Show |
T | 1 | a0001c0002t0001g0269 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1697+4350_1697+439 others(46): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45554964 | |||||||
chr22:45554965 | A | T | 10 | a0001c0001t0001g0089 a0001c0001t0001g0323 a0001c0001t0001g0343 others(7): Show |
10 | HG02559.hp2 HG02572.hp2 HG02809.hp1 others(7): Show |
intron_variant | MODIFIER | c.1697+4350A>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45554965 | |||||||
chr22:45554966 | T | TACAGGAA others(25): Show |
6 | a0001c0001t0001g0013 a0001c0001t0001g0176 a0001c0001t0001g0177 others(3): Show |
6 | HG02738.hp2 HG03098.hp1 HG03225.hp1 others(3): Show |
intron_variant | MODIFIER | c.1697+4374_1697+437 others(36): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45554966 | ||||||
chr22:45554966 | T | TAGGACCC others(15): Show |
10 | a0001c0001t0001g0089 a0001c0001t0001g0323 a0001c0001t0001g0343 others(7): Show |
10 | HG02559.hp2 HG02572.hp2 HG02809.hp1 others(7): Show |
intron_variant | MODIFIER | c.1697+4352_1697+435 others(26): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45554966 | ||||||
chr22:45554967 | A | ACAGGAAG others(25): Show |
1 | a0001c0001t0001g0068 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1697+4383_1697+438 others(36): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45554967 | ||||||
chr22:45554977 | A | AGGACCCG others(25): Show |
5 | a0001c0001t0007g0103 a0001c0001t0009g0279 a0001c0002t0001g0203 others(2): Show |
5 | HG01884.hp1 HG03139.hp1 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.1697+4383_1697+438 others(36): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45554977 | ||||||
chr22:45554984 | G | A | 5 | a0001c0001t0001g0069 a0001c0001t0001g0106 a0001c0001t0002g0270 others(2): Show |
5 | HG01496.hp1 HG02055.hp2 HG02145.hp1 others(2): Show |
intron_variant | MODIFIER | c.1697+4369G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45554984 | |||||||
chr22:45554999 | A | ACAGGAAG others(25): Show |
1 | a0001c0001t0001g0158 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.1697+4390_1697+442 others(36): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45554999 | ||||||
chr22:45554999 | A | ACAGGAGG others(25): Show |
1 | a0001c0002t0003g0329 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.1697+4389_1697+439 others(36): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45554999 | ||||||
chr22:45554999 | A | ACAGGAGG others(185): Show |
3 | a0001c0001t0002g0201 a0001c0002t0002g0314 a0001c0004t0001g0339 |
3 | HG02257.hp2 HG02970.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1697+4389_1697+439 others(196): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45554999 | ||||||
chr22:45554999 | A | G | 33 | a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0068 others(30): Show |
33 | HG01257.hp1 HG01258.hp1 HG01361.hp1 others(30): Show |
intron_variant | MODIFIER | c.1697+4384A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45554999 | |||||||
chr22:45555005 | A | AGTTAGGA others(25): Show |
146 | a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0020 others(143): Show |
146 | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(143): Show |
intron_variant | MODIFIER | c.1697+4458_1697+448 others(36): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45555005 | ||||||
chr22:45555005 | A | AGTTAGGA others(57): Show |
1 | a0001c0001t0001g0009 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.1697+4426_1697+448 others(68): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45555005 | ||||||
chr22:45555005 | A | AGTTAGGA others(25): Show |
2 | a0001c0002t0001g0127 a0001c0002t0001g0153 |
2 | HG00280.hp2 HG01175.hp1 |
intron_variant | MODIFIER | c.1697+4399_1697+440 others(36): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45555005 | ||||||
chr22:45555005 | A | G | 22 | a0001c0001t0001g0089 a0001c0001t0001g0323 a0001c0001t0001g0343 others(19): Show |
22 | HG01884.hp1 HG02257.hp2 HG02559.hp2 others(19): Show |
intron_variant | MODIFIER | c.1697+4390A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45555005 | |||||||
chr22:45555009 | A | AGGACCCG others(25): Show |
3 | a0001c0002t0001g0202 a0001c0015t0001g0196 a0003c0027t0001g0005 |
3 | HG02622.hp1 HG02809.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.1697+4425_1697+442 others(36): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45555009 | ||||||
chr22:45555009 | A | AGGACCCG others(57): Show |
2 | a0001c0001t0001g0338 a0001c0001t0001g0340 |
2 | HG02280.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.1697+4425_1697+442 others(68): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45555009 | ||||||
chr22:45555009 | A | AGGACCCG others(89): Show |
1 | a0001c0001t0002g0334 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.1697+4425_1697+442 others(100): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45555009 | ||||||
chr22:45555009 | A | AGGACCCG others(153): Show |
2 | a0001c0001t0001g0195 a0001c0001t0008g0205 |
2 | HG01099.hp1 HG02922.hp1 |
intron_variant | MODIFIER | c.1697+4425_1697+442 others(164): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45555009 | ||||||
chr22:45555009 | A | AGGACCCG others(185): Show |
2 | a0001c0001t0001g0344 a0001c0001t0003g0198 |
2 | HG02647.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.1697+4425_1697+442 others(196): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45555009 | ||||||
chr22:45555009 | A | G | 11 | a0001c0001t0002g0201 a0001c0001t0006g0324 a0001c0001t0007g0103 others(8): Show |
11 | HG01884.hp1 HG02257.hp2 HG02615.hp1 others(8): Show |
intron_variant | MODIFIER | c.1697+4394A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45555009 | |||||||
chr22:45555031 | G | A | 1 | a0001c0002t0001g0269 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1697+4416G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45555031 | |||||||
chr22:45555037 | G | A | 9 | a0001c0001t0001g0013 a0001c0001t0001g0068 a0001c0001t0001g0158 others(6): Show |
9 | HG02280.hp2 HG02738.hp2 HG03098.hp1 others(6): Show |
intron_variant | MODIFIER | c.1697+4422G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45555037 | |||||||
chr22:45555041 | A | G | 49 | a0001c0001t0001g0071 a0001c0001t0001g0113 a0001c0001t0001g0178 others(46): Show |
49 | HG01099.hp1 HG01106.hp1 HG01175.hp2 others(46): Show |
intron_variant | MODIFIER | c.1697+4426A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45555041 | |||||||
chr22:45555062 | C | T | 1 | a0001c0002t0001g0214 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.1697+4447C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45555062 | |||||||
chr22:45555070 | G | A | 8 | a0001c0001t0001g0013 a0001c0001t0001g0068 a0001c0001t0001g0158 others(5): Show |
8 | HG02738.hp2 HG03098.hp1 HG03225.hp1 others(5): Show |
intron_variant | MODIFIER | c.1697+4455G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45555070 | |||||||
chr22:45555073 | A | AGGACCCG others(25): Show |
1 | a0001c0001t0001g0140 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.1697+4480_1697+451 others(36): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45555073 | ||||||
chr22:45555073 | A | G | 49 | a0001c0001t0001g0071 a0001c0001t0001g0113 a0001c0001t0001g0195 others(46): Show |
49 | HG01099.hp1 HG01106.hp1 HG01175.hp2 others(46): Show |
intron_variant | MODIFIER | c.1697+4458A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45555073 | |||||||
chr22:45555073 | AGGACCCG others(25): Show |
A | 5 | a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0213 others(2): Show |
5 | HG00408.hp1 HG00438.hp1 NA18945.hp2 others(2): Show |
intron_variant | MODIFIER | c.1697+4480_1697+451 others(36): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45555073 | ||||||
chr22:45555105 | G | A | 165 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0018 others(162): Show |
165 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(162): Show |
intron_variant | MODIFIER | c.1697+4490G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45555105 | |||||||
chr22:45555106 | G | GGACCCGT others(25): Show |
1 | a0001c0001t0011g0060 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.1697+4511_1697+451 others(36): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45555106 | ||||||
chr22:45555106 | G | T | 8 | a0001c0001t0001g0013 a0001c0001t0001g0068 a0001c0001t0001g0158 others(5): Show |
8 | HG02738.hp2 HG03098.hp1 HG03225.hp1 others(5): Show |
intron_variant | MODIFIER | c.1697+4491G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45555106 | |||||||
chr22:45555127 | C | CCAGGAGG others(25): Show |
2 | a0001c0001t0001g0113 a0001c0002t0001g0080 |
2 | HG03195.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.1697+4532_1697+456 others(36): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45555127 | ||||||
chr22:45555175 | C | T | 1 | a0001c0001t0010g0206 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.1697+4560C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45555175 | |||||||
chr22:45555248 | C | CAT | 12 | a0001c0001t0001g0045 a0001c0001t0001g0071 a0001c0001t0001g0238 others(9): Show |
12 | HG01358.hp1 HG02257.hp2 HG02886.hp2 others(9): Show |
intron_variant | MODIFIER | c.1697+4649_1697+465 others(6): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45555248 | ||||||
chr22:45555248 | C | CATAT | 12 | a0001c0001t0001g0309 a0001c0001t0001g0312 a0001c0001t0001g0321 others(9): Show |
12 | HG01106.hp1 HG02258.hp2 HG02451.hp2 others(9): Show |
intron_variant | MODIFIER | c.1697+4647_1697+465 others(8): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45555248 | ||||||
chr22:45555248 | C | CATATATA others(9): Show |
2 | a0001c0001t0001g0158 a0001c0001t0001g0233 |
2 | NA18945.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.1697+4635_1697+465 others(20): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45555248 | ||||||
chr22:45555248 | C | CATATATA others(19): Show |
1 | a0001c0005t0007g0085 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.1697+4668_1697+469 others(30): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45555248 | ||||||
chr22:45555248 | C | CATATATA others(11): Show |
1 | a0001c0001t0001g0184 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1697+4650_1697+465 others(22): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45555248 | ||||||
chr22:45555248 | C | CATATATA others(21): Show |
1 | a0001c0001t0002g0334 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.1697+4650_1697+465 others(32): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45555248 | ||||||
chr22:45555248 | C | CATATATA others(13): Show |
1 | a0001c0014t0001g0116 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1697+4650_1697+465 others(24): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45555248 | ||||||
chr22:45555248 | C | CATATATA others(25): Show |
6 | a0001c0001t0001g0332 a0001c0001t0003g0303 a0001c0001t0004g0086 others(3): Show |
6 | HG01175.hp2 HG02109.hp1 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.1697+4650_1697+465 others(36): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45555248 | ||||||
chr22:45555248 | C | CATATATA others(21): Show |
1 | a0001c0001t0001g0068 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1697+4650_1697+465 others(32): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45555248 | ||||||
chr22:45555248 | C | CATATATA others(23): Show |
3 | a0001c0001t0001g0013 a0001c0001t0001g0177 a0001c0001t0011g0060 |
3 | HG02738.hp2 HG04115.hp2 HG04199.hp1 |
intron_variant | MODIFIER | c.1697+4650_1697+465 others(34): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45555248 | ||||||
chr22:45555248 | C | CATATATA others(29): Show |
1 | a0001c0001t0002g0275 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.1697+4650_1697+465 others(40): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45555248 | ||||||
chr22:45555248 | CATATATA others(17): Show |
C | 130 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0020 others(127): Show |
130 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(127): Show |
intron_variant | MODIFIER | c.1697+4651_1697+467 others(28): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45555248 | ||||||
chr22:45555248 | CATATATA others(19): Show |
C | 8 | a0001c0001t0001g0117 a0001c0001t0001g0132 a0001c0001t0001g0143 others(5): Show |
8 | HG02080.hp2 NA18944.hp2 NA18964.hp1 others(5): Show |
intron_variant | MODIFIER | c.1697+4668_1697+469 others(30): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45555248 | ||||||
chr22:45555250 | TATATATA others(15): Show |
T | 13 | a0001c0001t0001g0018 a0001c0001t0001g0189 a0001c0001t0001g0257 others(10): Show |
13 | HG00558.hp2 HG01109.hp2 HG01243.hp2 others(10): Show |
intron_variant | MODIFIER | c.1697+4651_1697+467 others(26): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45555250 | ||||||
chr22:45555252 | TATATATA others(13): Show |
T | 4 | a0001c0001t0001g0069 a0001c0001t0001g0106 a0001c0001t0002g0270 others(1): Show |
4 | HG02055.hp2 HG02145.hp1 HG02486.hp2 others(1): Show |
intron_variant | MODIFIER | c.1697+4651_1697+467 others(24): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45555252 | ||||||
chr22:45555255 | A | T | 2 | a0001c0001t0001g0053 a0001c0001t0001g0281 |
2 | HG00738.hp2 HG02738.hp1 |
intron_variant | MODIFIER | c.1697+4640A>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45555255 | |||||||
chr22:45555266 | A | T | 1 | a0001c0021t0001g0325 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1697+4651A>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45555266 | |||||||
chr22:45555267 | A | T | 1 | a0001c0001t0001g0176 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.1697+4652A>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45555267 | |||||||
chr22:45555270 | G | A | 1 | a0001c0001t0001g0176 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.1697+4655G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45555270 | |||||||
chr22:45555271 | G | T | 1 | a0001c0001t0001g0176 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.1697+4656G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45555271 | |||||||
chr22:45555272 | A | AAT | 30 | a0001c0001t0001g0048 a0001c0001t0001g0089 a0001c0001t0001g0100 others(27): Show |
30 | HG01106.hp1 HG01175.hp2 HG01943.hp2 others(27): Show |
intron_variant | MODIFIER | c.1697+4675_1697+467 others(6): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45555272 | ||||||
chr22:45555272 | A | AATAT | 12 | a0001c0001t0001g0177 a0001c0001t0001g0195 a0001c0001t0003g0098 others(9): Show |
12 | HG01884.hp1 HG02615.hp1 HG02738.hp2 others(9): Show |
intron_variant | MODIFIER | c.1697+4673_1697+467 others(8): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45555272 | ||||||
chr22:45555272 | A | AATATAT | 3 | a0001c0001t0002g0201 a0001c0002t0002g0314 a0001c0004t0001g0339 |
3 | HG02257.hp2 HG02970.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1697+4671_1697+467 others(10): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45555272 | ||||||
chr22:45555272 | A | AATATATA others(31): Show |
1 | a0001c0001t0001g0344 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.1697+4676_1697+467 others(42): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45555272 | ||||||
chr22:45555272 | A | AATATATA others(33): Show |
1 | a0001c0001t0003g0198 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.1697+4676_1697+467 others(44): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45555272 | ||||||
chr22:45555272 | A | AATATATA others(29): Show |
1 | a0001c0001t0001g0338 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1697+4676_1697+467 others(40): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45555272 | ||||||
chr22:45555272 | A | AATATATA others(31): Show |
1 | a0001c0001t0001g0340 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1697+4676_1697+467 others(42): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45555272 | ||||||
chr22:45555272 | A | AATATATA others(41): Show |
1 | a0001c0001t0008g0205 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1697+4676_1697+467 others(52): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45555272 | ||||||
chr22:45555278 | T | A | 1 | a0001c0001t0001g0233 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.1697+4663T>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45555278 | |||||||
chr22:45555287 | A | ATATG | 5 | a0001c0001t0001g0104 a0001c0001t0001g0278 a0001c0001t0001g0330 others(2): Show |
5 | HG02258.hp1 HG02572.hp1 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.1697+4675_1697+467 others(8): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45555287 | ||||||
chr22:45555292 | A | T | 6 | a0001c0001t0001g0104 a0001c0001t0001g0278 a0001c0001t0001g0330 others(3): Show |
6 | HG02258.hp1 HG02572.hp1 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.1697+4677A>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45555292 | |||||||
chr22:45555303 | A | G | 1 | a0001c0001t0007g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1697+4688A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45555303 | |||||||
chr22:45555363 | C | T | 1 | a0001c0001t0001g0081 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.1697+4748C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45555363 | |||||||
chr22:45555541 | G | A | 1 | a0001c0015t0001g0196 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1697+4926G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45555541 | |||||||
chr22:45555570 | C | T | 1 | a0001c0002t0001g0008 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.1697+4955C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45555570 | |||||||
chr22:45555692 | A | T | 1 | a0001c0001t0001g0136 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.1697+5077A>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45555692 | |||||||
chr22:45555986 | T | C | 1 | a0001c0001t0001g0285 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.1697+5371T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45555986 | |||||||
chr22:45555997 | T | C | 1 | a0001c0002t0001g0202 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1697+5382T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45555997 | |||||||
chr22:45556403 | A | G | 3 | a0001c0001t0002g0201 a0001c0002t0002g0314 a0001c0004t0001g0339 |
3 | HG02257.hp2 HG02970.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1697+5788A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45556403 | |||||||
chr22:45556854 | C | T | 1 | a0001c0001t0001g0051 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.1697+6239C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45556854 | |||||||
chr22:45557045 | T | C | 1 | a0001c0002t0001g0336 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1697+6430T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45557045 | |||||||
chr22:45557060 | T | C | 6 | a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0001g0344 others(3): Show |
6 | HG01099.hp1 HG01943.hp2 HG02280.hp1 others(3): Show |
intron_variant | MODIFIER | c.1697+6445T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45557060 | |||||||
chr22:45557172 | T | A | 25 | a0001c0001t0001g0113 a0001c0001t0001g0195 a0001c0001t0001g0338 others(22): Show |
25 | HG01099.hp1 HG01496.hp1 HG01884.hp1 others(22): Show |
intron_variant | MODIFIER | c.1697+6557T>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45557172 | |||||||
chr22:45557177 | A | C | 337 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0013 others(334): Show |
338 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(335): Show |
intron_variant | MODIFIER | c.1697+6562A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45557177 | |||||||
chr22:45557243 | T | C | 222 | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 others(219): Show |
222 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(219): Show |
intron_variant | MODIFIER | c.1697+6628T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45557243 | |||||||
chr22:45557323 | C | T | 1 | a0001c0001t0008g0205 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1697+6708C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45557323 | |||||||
chr22:45557369 | A | G | 13 | a0001c0001t0002g0308 a0001c0001t0003g0098 a0001c0001t0006g0324 others(10): Show |
13 | HG01496.hp1 HG01884.hp1 HG01891.hp1 others(10): Show |
intron_variant | MODIFIER | c.1697+6754A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45557369 | |||||||
chr22:45557411 | C | A | 209 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(206): Show |
209 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(206): Show |
intron_variant | MODIFIER | c.1697+6796C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45557411 | |||||||
chr22:45557455 | G | A | 1 | a0001c0001t0001g0322 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1697+6840G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45557455 | |||||||
chr22:45557667 | G | A | 2 | a0001c0018t0002g0095 a0008c0019t0007g0111 |
2 | HG02896.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1697+7052G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45557667 | |||||||
chr22:45557854 | G | A | 221 | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 others(218): Show |
221 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(218): Show |
intron_variant | MODIFIER | c.1697+7239G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45557854 | |||||||
chr22:45557989 | C | T | 1 | a0001c0001t0001g0301 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.1697+7374C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45557989 | |||||||
chr22:45558003 | C | T | 8 | a0001c0001t0003g0098 a0001c0001t0006g0324 a0001c0001t0009g0279 others(5): Show |
8 | HG02615.hp1 HG02965.hp1 HG02976.hp1 others(5): Show |
intron_variant | MODIFIER | c.1697+7388C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45558003 | |||||||
chr22:45558102 | G | A | 2 | a0001c0001t0002g0222 a0001c0002t0002g0317 |
2 | HG03453.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1697+7487G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45558102 | |||||||
chr22:45558145 | C | T | 1 | a0001c0001t0002g0094 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.1697+7530C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45558145 | |||||||
chr22:45558149 | G | A | 175 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(172): Show |
175 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(172): Show |
intron_variant | MODIFIER | c.1697+7534G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45558149 | |||||||
chr22:45558161 | C | T | 1 | a0001c0002t0001g0202 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1697+7546C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45558161 | |||||||
chr22:45558197 | C | G | 1 | a0001c0001t0001g0139 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.1697+7582C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45558197 | |||||||
chr22:45558394 | A | G | 1 | a0001c0008t0001g0088 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1697+7779A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45558394 | |||||||
chr22:45558398 | G | A | 209 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(206): Show |
209 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(206): Show |
intron_variant | MODIFIER | c.1697+7783G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45558398 | |||||||
chr22:45558649 | C | T | 2 | a0001c0001t0001g0055 a0001c0001t0001g0056 |
2 | NA18948.hp2 NA19087.hp2 |
intron_variant | MODIFIER | c.1697+8034C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45558649 | |||||||
chr22:45558650 | G | A | 142 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(139): Show |
142 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(139): Show |
intron_variant | MODIFIER | c.1697+8035G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45558650 | |||||||
chr22:45558667 | A | AAC | 219 | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 others(216): Show |
219 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(216): Show |
intron_variant | MODIFIER | c.1697+8055_1697+805 others(6): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45558667 | ||||||
chr22:45558890 | C | G | 1 | a0001c0001t0001g0302 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.1697+8275C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45558890 | |||||||
chr22:45558925 | T | C | 220 | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 others(217): Show |
220 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(217): Show |
intron_variant | MODIFIER | c.1697+8310T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45558925 | |||||||
chr22:45558994 | G | A | 3 | a0001c0001t0001g0184 a0001c0002t0001g0202 a0001c0014t0001g0116 |
3 | HG02622.hp1 HG03098.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1697+8379G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45558994 | |||||||
chr22:45558996 | T | C | 143 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(140): Show |
143 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(140): Show |
intron_variant | MODIFIER | c.1697+8381T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45558996 | |||||||
chr22:45558999 | A | G | 2 | a0001c0015t0001g0196 a0003c0027t0001g0005 |
2 | HG02809.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.1697+8384A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45558999 | |||||||
chr22:45559000 | G | A | 10 | a0001c0001t0001g0013 a0001c0001t0001g0045 a0001c0001t0001g0068 others(7): Show |
10 | HG01358.hp1 HG02738.hp2 HG03688.hp1 others(7): Show |
intron_variant | MODIFIER | c.1697+8385G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45559000 | |||||||
chr22:45559017 | T | A | 174 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(171): Show |
174 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(171): Show |
intron_variant | MODIFIER | c.1697+8402T>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45559017 | |||||||
chr22:45559169 | C | T | 3 | a0001c0001t0002g0201 a0001c0002t0002g0314 a0001c0004t0001g0339 |
3 | HG02257.hp2 HG02970.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1697+8554C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45559169 | |||||||
chr22:45559282 | C | T | 1 | a0001c0001t0001g0077 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.1697+8667C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45559282 | |||||||
chr22:45559288 | C | T | 3 | a0001c0001t0002g0201 a0001c0002t0002g0314 a0001c0004t0001g0339 |
3 | HG02257.hp2 HG02970.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1697+8673C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45559288 | |||||||
chr22:45559359 | C | A | 1 | a0004c0007t0001g0083 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1697+8744C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45559359 | |||||||
chr22:45559361 | A | G | 1 | a0004c0007t0001g0083 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1697+8746A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45559361 | |||||||
chr22:45559399 | T | C | 219 | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 others(216): Show |
219 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(216): Show |
intron_variant | MODIFIER | c.1697+8784T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45559399 | |||||||
chr22:45559410 | C | T | 3 | a0001c0001t0002g0201 a0001c0002t0002g0314 a0001c0004t0001g0339 |
3 | HG02257.hp2 HG02970.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1697+8795C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45559410 | |||||||
chr22:45559464 | A | G | 9 | a0001c0001t0001g0071 a0001c0001t0001g0322 a0001c0001t0003g0230 others(6): Show |
9 | HG02886.hp2 HG02896.hp1 HG02922.hp2 others(6): Show |
intron_variant | MODIFIER | c.1697+8849A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45559464 | |||||||
chr22:45559528 | G | T | 6 | a0001c0001t0001g0071 a0001c0001t0001g0322 a0001c0001t0003g0230 others(3): Show |
6 | HG02886.hp2 HG02922.hp2 HG03041.hp2 others(3): Show |
intron_variant | MODIFIER | c.1697+8913G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45559528 | |||||||
chr22:45559643 | A | G | 1 | a0001c0005t0001g0087 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1697+9028A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45559643 | |||||||
chr22:45559665 | C | T | 184 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(181): Show |
184 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(181): Show |
intron_variant | MODIFIER | c.1697+9050C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45559665 | |||||||
chr22:45559997 | G | T | 1 | a0001c0001t0001g0250 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.1697+9382G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45559997 | |||||||
chr22:45560020 | G | A | 14 | a0001c0001t0001g0018 a0001c0001t0001g0069 a0001c0001t0001g0106 others(11): Show |
14 | HG01243.hp2 HG01891.hp2 HG02055.hp2 others(11): Show |
intron_variant | MODIFIER | c.1697+9405G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45560020 | |||||||
chr22:45560037 | T | G | 1 | a0001c0002t0002g0274 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1697+9422T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45560037 | |||||||
chr22:45560110 | A | G | 1 | a0001c0001t0001g0129 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1697+9495A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45560110 | |||||||
chr22:45560168 | A | C | 27 | a0001c0001t0001g0113 a0001c0001t0001g0184 a0001c0001t0001g0195 others(24): Show |
27 | HG01099.hp1 HG01496.hp1 HG01884.hp1 others(24): Show |
intron_variant | MODIFIER | c.1697+9553A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45560168 | |||||||
chr22:45560353 | C | T | 2 | a0001c0001t0001g0184 a0001c0014t0001g0116 |
2 | HG03098.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1697+9738C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45560353 | |||||||
chr22:45560578 | C | T | 3 | a0001c0001t0001g0344 a0001c0001t0003g0198 a0001c0001t0008g0205 |
3 | HG01099.hp1 HG02647.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.1697+9963C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45560578 | |||||||
chr22:45560583 | A | G | 1 | a0001c0001t0001g0101 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.1697+9968A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45560583 | |||||||
chr22:45560649 | C | T | 1 | a0001c0001t0001g0217 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.1697+10034C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45560649 | |||||||
chr22:45560767 | C | T | 2 | a0001c0001t0001g0014 a0001c0002t0001g0169 |
2 | HG03834.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.1697+10152C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45560767 | |||||||
chr22:45560805 | G | A | 2 | a0001c0001t0001g0246 a0001c0001t0001g0247 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.1697+10190G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45560805 | |||||||
chr22:45561102 | C | G | 1 | a0001c0001t0011g0060 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.1697+10487C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45561102 | |||||||
chr22:45561129 | T | C | 1 | a0001c0001t0003g0209 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.1697+10514T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45561129 | |||||||
chr22:45561557 | A | G | 27 | a0001c0001t0001g0113 a0001c0001t0001g0184 a0001c0001t0001g0195 others(24): Show |
27 | HG01099.hp1 HG01496.hp1 HG01884.hp1 others(24): Show |
intron_variant | MODIFIER | c.1697+10942A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45561557 | |||||||
chr22:45561591 | G | A | 8 | a0001c0001t0001g0071 a0001c0001t0001g0322 a0001c0001t0003g0230 others(5): Show |
8 | HG02886.hp2 HG02896.hp1 HG02922.hp2 others(5): Show |
intron_variant | MODIFIER | c.1697+10976G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45561591 | |||||||
chr22:45561613 | C | T | 8 | a0001c0001t0001g0071 a0001c0001t0001g0322 a0001c0001t0003g0230 others(5): Show |
8 | HG02886.hp2 HG02896.hp1 HG02922.hp2 others(5): Show |
intron_variant | MODIFIER | c.1697+10998C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45561613 | |||||||
chr22:45561696 | G | T | 1 | a0001c0001t0001g0272 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.1697+11081G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45561696 | |||||||
chr22:45561719 | C | T | 6 | a0001c0001t0001g0184 a0001c0001t0001g0344 a0001c0001t0002g0334 others(3): Show |
6 | HG01099.hp1 HG01943.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.1697+11104C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45561719 | |||||||
chr22:45561851 | C | T | 4 | a0001c0001t0001g0195 a0001c0001t0002g0201 a0001c0002t0002g0314 others(1): Show |
4 | HG02257.hp2 HG02922.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.1697+11236C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45561851 | |||||||
chr22:45561927 | A | G | 2 | a0001c0001t0001g0014 a0001c0002t0001g0169 |
2 | HG03834.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.1697+11312A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45561927 | |||||||
chr22:45562126 | T | C | 37 | a0001c0001t0001g0013 a0001c0001t0001g0045 a0001c0001t0001g0068 others(34): Show |
37 | HG01099.hp1 HG01358.hp1 HG01496.hp1 others(34): Show |
intron_variant | MODIFIER | c.1697+11511T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45562126 | |||||||
chr22:45562127 | G | A | 3 | a0001c0001t0002g0201 a0001c0002t0002g0314 a0001c0004t0001g0339 |
3 | HG02257.hp2 HG02970.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1697+11512G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45562127 | |||||||
chr22:45562664 | C | A | 1 | a0001c0001t0001g0278 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.1698-11847C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45562664 | |||||||
chr22:45562690 | G | A | 2 | a0001c0001t0001g0082 a0001c0001t0001g0139 |
2 | HG03704.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.1698-11821G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45562690 | |||||||
chr22:45562755 | G | A | 1 | a0001c0001t0004g0306 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1698-11756G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45562755 | |||||||
chr22:45562793 | G | A | 10 | a0001c0001t0001g0013 a0001c0001t0001g0045 a0001c0001t0001g0068 others(7): Show |
10 | HG01358.hp1 HG02738.hp2 HG03688.hp1 others(7): Show |
intron_variant | MODIFIER | c.1698-11718G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45562793 | |||||||
chr22:45562805 | G | A | 24 | a0001c0001t0001g0089 a0001c0001t0001g0309 a0001c0001t0001g0312 others(21): Show |
24 | HG01106.hp1 HG01175.hp2 HG02109.hp1 others(21): Show |
intron_variant | MODIFIER | c.1698-11706G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45562805 | |||||||
chr22:45562992 | T | C | 1 | a0001c0001t0001g0168 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.1698-11519T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45562992 | |||||||
chr22:45563053 | C | T | 3 | a0001c0001t0001g0134 a0001c0002t0001g0172 a0001c0002t0001g0252 |
3 | HG02027.hp1 NA19084.hp2 NA19086.hp1 |
intron_variant | MODIFIER | c.1698-11458C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45563053 | |||||||
chr22:45563112 | G | A | 1 | a0001c0001t0001g0340 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1698-11399G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45563112 | |||||||
chr22:45563277 | C | T | 2 | a0001c0018t0002g0095 a0008c0019t0007g0111 |
2 | HG02896.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1698-11234C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45563277 | |||||||
chr22:45563279 | C | T | 1 | a0001c0020t0002g0156 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.1698-11232C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45563279 | |||||||
chr22:45563325 | G | A | 2 | a0001c0001t0004g0306 a0001c0001t0004g0345 |
2 | HG02886.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1698-11186G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45563325 | |||||||
chr22:45563436 | C | T | 1 | a0001c0001t0001g0287 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.1698-11075C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45563436 | |||||||
chr22:45563457 | C | T | 202 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(199): Show |
202 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(199): Show |
intron_variant | MODIFIER | c.1698-11054C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45563457 | |||||||
chr22:45563559 | A | G | 12 | a0001c0001t0001g0013 a0001c0001t0001g0045 a0001c0001t0001g0068 others(9): Show |
12 | HG01358.hp1 HG02738.hp2 HG03098.hp1 others(9): Show |
intron_variant | MODIFIER | c.1698-10952A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45563559 | |||||||
chr22:45563660 | G | A | 243 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0014 others(240): Show |
244 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(241): Show |
intron_variant | MODIFIER | c.1698-10851G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45563660 | |||||||
chr22:45563979 | G | C | 258 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0014 others(255): Show |
259 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(256): Show |
intron_variant | MODIFIER | c.1698-10532G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45563979 | |||||||
chr22:45564006 | G | A | 3 | a0001c0001t0001g0113 a0001c0002t0001g0080 a0004c0007t0001g0083 |
3 | HG02647.hp2 HG03195.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.1698-10505G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45564006 | |||||||
chr22:45564014 | C | G | 258 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0014 others(255): Show |
259 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(256): Show |
intron_variant | MODIFIER | c.1698-10497C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45564014 | |||||||
chr22:45564017 | G | A | 154 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(151): Show |
154 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(151): Show |
intron_variant | MODIFIER | c.1698-10494G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45564017 | |||||||
chr22:45564042 | C | A | 1 | a0001c0002t0001g0202 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1698-10469C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45564042 | |||||||
chr22:45564118 | C | T | 10 | a0001c0001t0001g0195 a0001c0001t0001g0248 a0001c0001t0001g0338 others(7): Show |
10 | HG01099.hp1 HG02257.hp2 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.1698-10393C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45564118 | |||||||
chr22:45564194 | CT | C | 10 | a0001c0001t0001g0045 a0001c0001t0001g0068 a0001c0001t0001g0149 others(7): Show |
10 | HG01256.hp2 HG01358.hp1 HG02071.hp1 others(7): Show |
intron_variant | MODIFIER | c.1698-10316delT | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45564194 | |||||||
chr22:45564393 | G | A | 4 | a0001c0001t0001g0104 a0001c0001t0001g0278 a0001c0001t0001g0330 others(1): Show |
4 | HG02572.hp1 HG02717.hp2 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.1698-10118G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45564393 | |||||||
chr22:45564495 | G | A | 5 | a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0002g0201 others(2): Show |
5 | HG02257.hp2 HG02280.hp1 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.1698-10016G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45564495 | |||||||
chr22:45564507 | G | A | 2 | a0001c0001t0001g0246 a0001c0001t0001g0247 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.1698-10004G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45564507 | |||||||
chr22:45564613 | C | A | 2 | a0001c0002t0003g0326 a0001c0002t0003g0327 |
2 | HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.1698-9898C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45564613 | |||||||
chr22:45564615 | C | G | 1 | a0001c0002t0001g0202 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1698-9896C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45564615 | |||||||
chr22:45564654 | G | A | 1 | a0001c0001t0001g0341 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1698-9857G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45564654 | |||||||
chr22:45564672 | T | C | 4 | a0001c0001t0001g0195 a0001c0001t0002g0201 a0001c0002t0002g0314 others(1): Show |
4 | HG02257.hp2 HG02922.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.1698-9839T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45564672 | |||||||
chr22:45564984 | G | T | 3 | a0001c0001t0001g0344 a0001c0001t0003g0198 a0001c0001t0008g0205 |
3 | HG01099.hp1 HG02647.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.1698-9527G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45564984 | |||||||
chr22:45565024 | T | C | 1 | a0001c0001t0001g0276 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1698-9487T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45565024 | |||||||
chr22:45565059 | C | T | 2 | a0001c0001t0001g0018 a0001c0001t0001g0257 |
2 | HG02818.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.1698-9452C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45565059 | |||||||
chr22:45565142 | G | A | 1 | a0001c0001t0001g0171 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.1698-9369G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45565142 | |||||||
chr22:45565187 | C | G | 1 | a0001c0001t0001g0177 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.1698-9324C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45565187 | |||||||
chr22:45565192 | C | G | 2 | a0001c0001t0001g0154 a0001c0001t0001g0207 |
2 | HG00140.hp1 HG01192.hp2 |
intron_variant | MODIFIER | c.1698-9319C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45565192 | |||||||
chr22:45565333 | C | T | 227 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(224): Show |
227 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(224): Show |
intron_variant | MODIFIER | c.1698-9178C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45565333 | |||||||
chr22:45565369 | C | T | 8 | a0001c0001t0003g0098 a0001c0001t0006g0324 a0001c0002t0003g0110 others(5): Show |
8 | HG02055.hp1 HG02615.hp1 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.1698-9142C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45565369 | |||||||
chr22:45565404 | C | G | 142 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(139): Show |
142 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(139): Show |
intron_variant | MODIFIER | c.1698-9107C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45565404 | |||||||
chr22:45565717 | A | AATGG | 190 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(187): Show |
190 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(187): Show |
intron_variant | MODIFIER | c.1698-8771_1698-876 others(8): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45565717 | ||||||
chr22:45565717 | A | AATGGATG others(1): Show |
31 | a0001c0001t0001g0089 a0001c0001t0001g0309 a0001c0001t0001g0312 others(28): Show |
31 | HG01106.hp1 HG01175.hp2 HG01433.hp1 others(28): Show |
intron_variant | MODIFIER | c.1698-8775_1698-876 others(12): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45565717 | ||||||
chr22:45565717 | A | AATGGATG others(5): Show |
5 | a0001c0001t0001g0104 a0001c0001t0001g0278 a0001c0001t0001g0330 others(2): Show |
5 | HG02258.hp1 HG02572.hp1 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.1698-8779_1698-876 others(16): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45565717 | ||||||
chr22:45565827 | C | T | 3 | a0001c0001t0009g0279 a0001c0002t0001g0203 a0001c0021t0001g0325 |
3 | HG01884.hp1 HG03139.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1698-8684C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45565827 | |||||||
chr22:45565891 | G | A | 33 | a0001c0001t0001g0089 a0001c0001t0001g0104 a0001c0001t0001g0278 others(30): Show |
33 | HG01106.hp1 HG01175.hp2 HG01496.hp1 others(30): Show |
intron_variant | MODIFIER | c.1698-8620G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45565891 | |||||||
chr22:45566024 | G | T | 228 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(225): Show |
228 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(225): Show |
intron_variant | MODIFIER | c.1698-8487G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45566024 | |||||||
chr22:45566152 | G | A | 2 | a0001c0001t0001g0184 a0001c0014t0001g0116 |
2 | HG03098.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1698-8359G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45566152 | |||||||
chr22:45566370 | C | T | 2 | a0001c0001t0001g0107 a0001c0002t0001g0173 |
2 | HG01516.hp2 HG03017.hp1 |
intron_variant | MODIFIER | c.1698-8141C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45566370 | |||||||
chr22:45566371 | G | A | 3 | a0001c0001t0001g0071 a0001c0001t0003g0230 a0001c0002t0002g0274 |
3 | HG02922.hp2 HG03041.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.1698-8140G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45566371 | |||||||
chr22:45566533 | C | T | 5 | a0001c0001t0001g0104 a0001c0001t0001g0278 a0001c0001t0001g0330 others(2): Show |
5 | HG02258.hp1 HG02572.hp1 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.1698-7978C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45566533 | |||||||
chr22:45566536 | G | T | 1 | a0001c0001t0001g0236 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.1698-7975G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45566536 | |||||||
chr22:45566591 | G | A | 4 | a0001c0001t0001g0104 a0001c0001t0001g0278 a0001c0001t0001g0330 others(1): Show |
4 | HG02572.hp1 HG02717.hp2 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.1698-7920G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45566591 | |||||||
chr22:45566642 | C | T | 38 | a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0048 others(35): Show |
38 | HG00408.hp2 HG00423.hp1 HG01069.hp1 others(35): Show |
intron_variant | MODIFIER | c.1698-7869C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45566642 | |||||||
chr22:45567010 | C | T | 1 | a0001c0001t0001g0276 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.1698-7501C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45567010 | |||||||
chr22:45567133 | A | G | 233 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(230): Show |
233 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(230): Show |
intron_variant | MODIFIER | c.1698-7378A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45567133 | |||||||
chr22:45567406 | G | A | 1 | a0001c0002t0001g0202 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1698-7105G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45567406 | |||||||
chr22:45567429 | A | T | 1 | a0001c0001t0001g0168 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.1698-7082A>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45567429 | |||||||
chr22:45567430 | A | G | 1 | a0001c0001t0001g0168 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.1698-7081A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45567430 | |||||||
chr22:45567431 | C | G | 1 | a0001c0001t0001g0168 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.1698-7080C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45567431 | |||||||
chr22:45567444 | C | T | 3 | a0001c0001t0002g0201 a0001c0002t0002g0314 a0001c0004t0001g0339 |
3 | HG02257.hp2 HG02970.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1698-7067C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45567444 | |||||||
chr22:45567595 | G | A | 4 | a0001c0001t0001g0195 a0001c0001t0002g0201 a0001c0002t0002g0314 others(1): Show |
4 | HG02257.hp2 HG02922.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.1698-6916G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45567595 | |||||||
chr22:45567643 | G | A | 182 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(179): Show |
182 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(179): Show |
intron_variant | MODIFIER | c.1698-6868G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45567643 | |||||||
chr22:45567710 | C | G | 41 | a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0048 others(38): Show |
41 | HG00408.hp2 HG00423.hp1 HG01069.hp1 others(38): Show |
intron_variant | MODIFIER | c.1698-6801C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45567710 | |||||||
chr22:45567747 | T | C | 1 | a0001c0002t0001g0109 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.1698-6764T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45567747 | |||||||
chr22:45567755 | C | T | 1 | a0001c0002t0001g0202 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1698-6756C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45567755 | |||||||
chr22:45567909 | G | A | 5 | a0001c0001t0001g0332 a0001c0001t0003g0303 a0001c0001t0009g0279 others(2): Show |
5 | HG01884.hp1 HG02630.hp2 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.1698-6602G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45567909 | |||||||
chr22:45567914 | C | G | 231 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(228): Show |
231 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(228): Show |
intron_variant | MODIFIER | c.1698-6597C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45567914 | |||||||
chr22:45567970 | C | T | 1 | a0001c0002t0001g0092 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.1698-6541C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45567970 | |||||||
chr22:45568061 | G | T | 1 | a0001c0002t0001g0080 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1698-6450G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568061 | |||||||
chr22:45568089 | T | C | 7 | a0001c0001t0001g0184 a0001c0001t0001g0332 a0001c0001t0003g0303 others(4): Show |
7 | HG01884.hp1 HG02630.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.1698-6422T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568089 | |||||||
chr22:45568358 | A | C | 1 | a0001c0001t0001g0144 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.1698-6153A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568358 | |||||||
chr22:45568414 | C | T | 7 | a0001c0001t0001g0047 a0001c0001t0001g0146 a0001c0001t0001g0164 others(4): Show |
7 | HG00438.hp2 HG02071.hp2 HG02132.hp1 others(4): Show |
intron_variant | MODIFIER | c.1698-6097C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568414 | |||||||
chr22:45568415 | T | TTTCTGTA others(12): Show |
11 | a0001c0001t0001g0069 a0001c0001t0001g0102 a0001c0001t0001g0106 others(8): Show |
11 | HG01109.hp2 HG01257.hp1 HG01258.hp1 others(8): Show |
intron_variant | MODIFIER | c.1698-6084_1698-608 others(23): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45568415 | ||||||
chr22:45568415 | T | TTTCTGTA others(31): Show |
66 | a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0048 others(63): Show |
66 | HG00408.hp2 HG00423.hp1 HG01069.hp1 others(63): Show |
intron_variant | MODIFIER | c.1698-6084_1698-608 others(42): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45568415 | ||||||
chr22:45568415 | T | TTTCTGTA others(88): Show |
1 | a0001c0002t0001g0202 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1698-6084_1698-608 others(99): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45568415 | ||||||
chr22:45568428 | G | A | 165 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(162): Show |
165 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(162): Show |
intron_variant | MODIFIER | c.1698-6083G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568428 | |||||||
chr22:45568432 | T | C | 152 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(149): Show |
152 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.1698-6079T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568432 | |||||||
chr22:45568433 | C | CTTCTGTA others(68): Show |
1 | a0001c0001t0001g0120 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.1698-6078_1698-607 others(79): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568433 | |||||||
chr22:45568433 | C | T | 152 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(149): Show |
152 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.1698-6078C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568433 | |||||||
chr22:45568447 | G | A | 153 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(150): Show |
153 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(150): Show |
intron_variant | MODIFIER | c.1698-6064G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568447 | |||||||
chr22:45568453 | C | T | 1 | a0001c0001t0003g0230 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1698-6058C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568453 | |||||||
chr22:45568466 | G | A | 41 | a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0048 others(38): Show |
41 | HG00408.hp2 HG00423.hp1 HG01069.hp1 others(38): Show |
intron_variant | MODIFIER | c.1698-6045G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568466 | |||||||
chr22:45568468 | G | T | 2 | a0001c0018t0002g0095 a0008c0019t0007g0111 |
2 | HG02896.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1698-6043G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568468 | |||||||
chr22:45568470 | T | C | 41 | a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0048 others(38): Show |
41 | HG00408.hp2 HG00423.hp1 HG01069.hp1 others(38): Show |
intron_variant | MODIFIER | c.1698-6041T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568470 | |||||||
chr22:45568471 | C | T | 41 | a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0048 others(38): Show |
41 | HG00408.hp2 HG00423.hp1 HG01069.hp1 others(38): Show |
intron_variant | MODIFIER | c.1698-6040C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568471 | |||||||
chr22:45568474 | T | TCTGTAGG others(66): Show |
4 | a0001c0001t0001g0104 a0001c0001t0001g0278 a0001c0001t0001g0330 others(1): Show |
4 | HG02572.hp1 HG02717.hp2 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.1698-6027_1698-602 others(77): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45568474 | ||||||
chr22:45568485 | A | G | 144 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(141): Show |
144 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(141): Show |
intron_variant | MODIFIER | c.1698-6026A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568485 | |||||||
chr22:45568489 | C | T | 188 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(185): Show |
188 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(185): Show |
intron_variant | MODIFIER | c.1698-6022C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568489 | |||||||
chr22:45568490 | T | C | 189 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(186): Show |
189 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(186): Show |
intron_variant | MODIFIER | c.1698-6021T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568490 | |||||||
chr22:45568490 | T | TCTTCTGT others(12): Show |
1 | a0001c0001t0001g0291 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.1698-6008_1698-600 others(23): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45568490 | ||||||
chr22:45568490 | T | TCTTCTGT others(47): Show |
26 | a0001c0001t0001g0089 a0001c0001t0001g0309 a0001c0001t0001g0312 others(23): Show |
26 | HG01106.hp1 HG01175.hp2 HG01496.hp1 others(23): Show |
intron_variant | MODIFIER | c.1698-6008_1698-600 others(58): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45568490 | ||||||
chr22:45568504 | G | A | 154 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(151): Show |
154 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(151): Show |
intron_variant | MODIFIER | c.1698-6007G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568504 | |||||||
chr22:45568508 | T | C | 153 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(150): Show |
153 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(150): Show |
intron_variant | MODIFIER | c.1698-6003T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568508 | |||||||
chr22:45568509 | C | T | 153 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(150): Show |
153 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(150): Show |
intron_variant | MODIFIER | c.1698-6002C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568509 | |||||||
chr22:45568528 | TCTTCTGT others(122): Show |
T | 130 | a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0021 others(127): Show |
130 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(127): Show |
intron_variant | MODIFIER | c.1698-5965_1698-583 others(4): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45568528 | ||||||
chr22:45568542 | A | G | 30 | a0001c0001t0001g0089 a0001c0001t0001g0104 a0001c0001t0001g0278 others(27): Show |
30 | HG01106.hp1 HG01175.hp2 HG01496.hp1 others(27): Show |
intron_variant | MODIFIER | c.1698-5969A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568542 | |||||||
chr22:45568545 | CTCCTTCT others(102): Show |
C | 10 | a0001c0001t0001g0018 a0001c0001t0001g0113 a0001c0001t0001g0195 others(7): Show |
10 | HG02257.hp2 HG02647.hp2 HG02818.hp2 others(7): Show |
intron_variant | MODIFIER | c.1698-5965_1698-585 others(4): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568545 | |||||||
chr22:45568546 | T | C | 14 | a0001c0001t0001g0014 a0001c0001t0001g0093 a0001c0001t0001g0102 others(11): Show |
14 | HG01071.hp1 HG01109.hp2 HG01257.hp1 others(11): Show |
intron_variant | MODIFIER | c.1698-5965T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568546 | |||||||
chr22:45568547 | C | T | 13 | a0001c0001t0001g0014 a0001c0001t0001g0093 a0001c0001t0001g0102 others(10): Show |
13 | HG01071.hp1 HG01109.hp2 HG01257.hp1 others(10): Show |
intron_variant | MODIFIER | c.1698-5964C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568547 | |||||||
chr22:45568559 | C | G | 48 | a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0048 others(45): Show |
48 | HG00408.hp2 HG00423.hp1 HG01069.hp1 others(45): Show |
intron_variant | MODIFIER | c.1698-5952C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568559 | |||||||
chr22:45568560 | A | AG | 48 | a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0048 others(45): Show |
48 | HG00408.hp2 HG00423.hp1 HG01069.hp1 others(45): Show |
intron_variant | MODIFIER | c.1698-5951_1698-595 others(5): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568560 | |||||||
chr22:45568576 | A | G | 48 | a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0048 others(45): Show |
48 | HG00408.hp2 HG00423.hp1 HG01069.hp1 others(45): Show |
intron_variant | MODIFIER | c.1698-5935A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568576 | |||||||
chr22:45568581 | G | GCCT | 48 | a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0048 others(45): Show |
48 | HG00408.hp2 HG00423.hp1 HG01069.hp1 others(45): Show |
intron_variant | MODIFIER | c.1698-5929_1698-592 others(7): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45568581 | ||||||
chr22:45568584 | C | T | 48 | a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0048 others(45): Show |
48 | HG00408.hp2 HG00423.hp1 HG01069.hp1 others(45): Show |
intron_variant | MODIFIER | c.1698-5927C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568584 | |||||||
chr22:45568584 | CCTGTAGG others(212): Show |
C | 13 | a0001c0001t0001g0014 a0001c0001t0001g0093 a0001c0001t0001g0102 others(10): Show |
13 | HG01071.hp1 HG01109.hp2 HG01257.hp1 others(10): Show |
intron_variant | MODIFIER | c.1698-5908_1698-569 others(4): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45568584 | ||||||
chr22:45568595 | A | G | 3 | a0001c0001t0001g0120 a0001c0001t0001g0291 a0001c0002t0001g0202 |
3 | HG02622.hp1 NA19062.hp1 NA19062.hp2 |
intron_variant | MODIFIER | c.1698-5916A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568595 | |||||||
chr22:45568609 | A | G | 78 | a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0048 others(75): Show |
78 | HG00408.hp2 HG00423.hp1 HG01069.hp1 others(75): Show |
intron_variant | MODIFIER | c.1698-5902A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568609 | |||||||
chr22:45568614 | A | G | 48 | a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0048 others(45): Show |
48 | HG00408.hp2 HG00423.hp1 HG01069.hp1 others(45): Show |
intron_variant | MODIFIER | c.1698-5897A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568614 | |||||||
chr22:45568622 | C | T | 78 | a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0048 others(75): Show |
78 | HG00408.hp2 HG00423.hp1 HG01069.hp1 others(75): Show |
intron_variant | MODIFIER | c.1698-5889C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568622 | |||||||
chr22:45568628 | A | G | 78 | a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0048 others(75): Show |
78 | HG00408.hp2 HG00423.hp1 HG01069.hp1 others(75): Show |
intron_variant | MODIFIER | c.1698-5883A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568628 | |||||||
chr22:45568637 | C | T | 30 | a0001c0001t0001g0089 a0001c0001t0001g0104 a0001c0001t0001g0278 others(27): Show |
30 | HG01106.hp1 HG01175.hp2 HG01496.hp1 others(27): Show |
intron_variant | MODIFIER | c.1698-5874C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568637 | |||||||
chr22:45568638 | T | C | 30 | a0001c0001t0001g0089 a0001c0001t0001g0104 a0001c0001t0001g0278 others(27): Show |
30 | HG01106.hp1 HG01175.hp2 HG01496.hp1 others(27): Show |
intron_variant | MODIFIER | c.1698-5873T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568638 | |||||||
chr22:45568646 | G | A | 78 | a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0048 others(75): Show |
78 | HG00408.hp2 HG00423.hp1 HG01069.hp1 others(75): Show |
intron_variant | MODIFIER | c.1698-5865G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568646 | |||||||
chr22:45568649 | A | G | 78 | a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0048 others(75): Show |
78 | HG00408.hp2 HG00423.hp1 HG01069.hp1 others(75): Show |
intron_variant | MODIFIER | c.1698-5862A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568649 | |||||||
chr22:45568651 | A | AGTGCTCC others(30): Show |
3 | a0001c0001t0001g0120 a0001c0001t0001g0291 a0001c0002t0001g0202 |
3 | HG02622.hp1 NA19062.hp1 NA19062.hp2 |
intron_variant | MODIFIER | c.1698-5860_1698-585 others(41): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568651 | |||||||
chr22:45568651 | A | AGTGCTCC others(87): Show |
40 | a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0048 others(37): Show |
40 | HG00408.hp2 HG00423.hp1 HG01069.hp1 others(37): Show |
intron_variant | MODIFIER | c.1698-5860_1698-585 others(98): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568651 | |||||||
chr22:45568652 | A | G | 30 | a0001c0001t0001g0089 a0001c0001t0001g0104 a0001c0001t0001g0278 others(27): Show |
30 | HG01106.hp1 HG01175.hp2 HG01496.hp1 others(27): Show |
intron_variant | MODIFIER | c.1698-5859A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568652 | |||||||
chr22:45568656 | TC | T | 10 | a0001c0001t0001g0018 a0001c0001t0001g0113 a0001c0001t0001g0195 others(7): Show |
10 | HG02257.hp2 HG02647.hp2 HG02818.hp2 others(7): Show |
intron_variant | MODIFIER | c.1698-5853delC | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45568656 | ||||||
chr22:45568671 | A | G | 5 | a0001c0001t0001g0332 a0001c0001t0003g0303 a0001c0001t0009g0279 others(2): Show |
5 | HG01884.hp1 HG02630.hp2 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.1698-5840A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568671 | |||||||
chr22:45568675 | C | T | 5 | a0001c0001t0001g0332 a0001c0001t0003g0303 a0001c0001t0009g0279 others(2): Show |
5 | HG01884.hp1 HG02630.hp2 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.1698-5836C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568675 | |||||||
chr22:45568676 | T | C | 5 | a0001c0001t0001g0332 a0001c0001t0003g0303 a0001c0001t0009g0279 others(2): Show |
5 | HG01884.hp1 HG02630.hp2 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.1698-5835T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568676 | |||||||
chr22:45568694 | T | C | 145 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0020 others(142): Show |
145 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(142): Show |
intron_variant | MODIFIER | c.1698-5817T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568694 | |||||||
chr22:45568695 | C | T | 145 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0020 others(142): Show |
145 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(142): Show |
intron_variant | MODIFIER | c.1698-5816C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568695 | |||||||
chr22:45568704 | G | GGAGAATG others(65): Show |
26 | a0001c0001t0001g0089 a0001c0001t0001g0309 a0001c0001t0001g0312 others(23): Show |
26 | HG01106.hp1 HG01175.hp2 HG01496.hp1 others(23): Show |
intron_variant | MODIFIER | c.1698-5806_1698-580 others(76): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45568704 | ||||||
chr22:45568704 | G | GGAGAATG others(194): Show |
4 | a0001c0001t0001g0104 a0001c0001t0001g0278 a0001c0001t0001g0330 others(1): Show |
4 | HG02572.hp1 HG02717.hp2 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.1698-5806_1698-580 others(205): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45568704 | ||||||
chr22:45568707 | G | C | 140 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0020 others(137): Show |
140 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(137): Show |
intron_variant | MODIFIER | c.1698-5804G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568707 | |||||||
chr22:45568708 | A | C | 30 | a0001c0001t0001g0089 a0001c0001t0001g0104 a0001c0001t0001g0278 others(27): Show |
30 | HG01106.hp1 HG01175.hp2 HG01496.hp1 others(27): Show |
intron_variant | MODIFIER | c.1698-5803A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568708 | |||||||
chr22:45568708 | AG | A | 140 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0020 others(137): Show |
140 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(137): Show |
intron_variant | MODIFIER | c.1698-5802delG | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568708 | |||||||
chr22:45568709 | G | A | 30 | a0001c0001t0001g0089 a0001c0001t0001g0104 a0001c0001t0001g0278 others(27): Show |
30 | HG01106.hp1 HG01175.hp2 HG01496.hp1 others(27): Show |
intron_variant | MODIFIER | c.1698-5802G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568709 | |||||||
chr22:45568725 | A | G | 48 | a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0048 others(45): Show |
48 | HG00408.hp2 HG00423.hp1 HG01069.hp1 others(45): Show |
intron_variant | MODIFIER | c.1698-5786A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568725 | |||||||
chr22:45568728 | A | G | 43 | a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0048 others(40): Show |
43 | HG00408.hp2 HG00423.hp1 HG01069.hp1 others(40): Show |
intron_variant | MODIFIER | c.1698-5783A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568728 | |||||||
chr22:45568730 | GCT | G | 5 | a0001c0001t0001g0332 a0001c0001t0003g0303 a0001c0001t0009g0279 others(2): Show |
5 | HG01884.hp1 HG02630.hp2 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.1698-5779_1698-577 others(6): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45568730 | ||||||
chr22:45568733 | C | CCTT | 43 | a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0048 others(40): Show |
43 | HG00408.hp2 HG00423.hp1 HG01069.hp1 others(40): Show |
intron_variant | MODIFIER | c.1698-5776_1698-577 others(7): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45568733 | ||||||
chr22:45568733 | CCTGTAGG others(63): Show |
C | 140 | a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0020 others(137): Show |
140 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(137): Show |
intron_variant | MODIFIER | c.1698-5767_1698-569 others(74): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45568733 | ||||||
chr22:45568735 | TGTAGGGG others(1): Show |
T | 5 | a0001c0001t0001g0332 a0001c0001t0003g0303 a0001c0001t0009g0279 others(2): Show |
5 | HG01884.hp1 HG02630.hp2 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.1698-5775_1698-576 others(12): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568735 | |||||||
chr22:45568742 | G | C | 42 | a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0048 others(39): Show |
42 | HG00408.hp2 HG00423.hp1 HG01069.hp1 others(39): Show |
intron_variant | MODIFIER | c.1698-5769G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568742 | |||||||
chr22:45568743 | A | AATGCTC | 30 | a0001c0001t0001g0089 a0001c0001t0001g0104 a0001c0001t0001g0278 others(27): Show |
30 | HG01106.hp1 HG01175.hp2 HG01496.hp1 others(27): Show |
intron_variant | MODIFIER | c.1698-5768_1698-576 others(10): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568743 | |||||||
chr22:45568743 | A | AGTGCTCC others(36): Show |
1 | a0001c0002t0001g0202 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1698-5768_1698-576 others(47): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568743 | |||||||
chr22:45568743 | A | ATGCTC | 42 | a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0048 others(39): Show |
42 | HG00408.hp2 HG00423.hp1 HG01069.hp1 others(39): Show |
intron_variant | MODIFIER | c.1698-5768_1698-576 others(9): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568743 | |||||||
chr22:45568753 | G | A | 1 | a0004c0007t0002g0084 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1698-5758G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568753 | |||||||
chr22:45568755 | G | C | 5 | a0001c0001t0001g0332 a0001c0001t0003g0303 a0001c0001t0009g0279 others(2): Show |
5 | HG01884.hp1 HG02630.hp2 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.1698-5756G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568755 | |||||||
chr22:45568756 | AG | A | 5 | a0001c0001t0001g0332 a0001c0001t0003g0303 a0001c0001t0009g0279 others(2): Show |
5 | HG01884.hp1 HG02630.hp2 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.1698-5754delG | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568756 | |||||||
chr22:45568757 | G | A | 30 | a0001c0001t0001g0089 a0001c0001t0001g0104 a0001c0001t0001g0278 others(27): Show |
30 | HG01106.hp1 HG01175.hp2 HG01496.hp1 others(27): Show |
intron_variant | MODIFIER | c.1698-5754G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568757 | |||||||
chr22:45568771 | A | G | 78 | a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0048 others(75): Show |
78 | HG00408.hp2 HG00423.hp1 HG01069.hp1 others(75): Show |
intron_variant | MODIFIER | c.1698-5740A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568771 | |||||||
chr22:45568773 | G | A | 5 | a0001c0001t0001g0332 a0001c0001t0003g0303 a0001c0001t0009g0279 others(2): Show |
5 | HG01884.hp1 HG02630.hp2 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.1698-5738G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568773 | |||||||
chr22:45568776 | A | G | 73 | a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0048 others(70): Show |
73 | HG00408.hp2 HG00423.hp1 HG01069.hp1 others(70): Show |
intron_variant | MODIFIER | c.1698-5735A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568776 | |||||||
chr22:45568781 | C | CCTTCTGT others(97): Show |
42 | a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0048 others(39): Show |
42 | HG00408.hp2 HG00423.hp1 HG01069.hp1 others(39): Show |
intron_variant | MODIFIER | c.1698-5728_1698-572 others(108): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45568781 | ||||||
chr22:45568781 | CCTCCTGT others(15): Show |
C | 5 | a0001c0001t0001g0332 a0001c0001t0003g0303 a0001c0001t0009g0279 others(2): Show |
5 | HG01884.hp1 HG02630.hp2 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.1698-5727_1698-570 others(26): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45568781 | ||||||
chr22:45568784 | C | T | 73 | a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0048 others(70): Show |
73 | HG00408.hp2 HG00423.hp1 HG01069.hp1 others(70): Show |
intron_variant | MODIFIER | c.1698-5727C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568784 | |||||||
chr22:45568790 | A | G | 73 | a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0048 others(70): Show |
73 | HG00408.hp2 HG00423.hp1 HG01069.hp1 others(70): Show |
intron_variant | MODIFIER | c.1698-5721A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568790 | |||||||
chr22:45568809 | G | A | 42 | a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0048 others(39): Show |
42 | HG00408.hp2 HG00423.hp1 HG01069.hp1 others(39): Show |
intron_variant | MODIFIER | c.1698-5702G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568809 | |||||||
chr22:45568809 | G | GGGGAATG others(210): Show |
4 | a0001c0001t0001g0104 a0001c0001t0001g0278 a0001c0001t0001g0330 others(1): Show |
4 | HG02572.hp1 HG02717.hp2 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.1698-5690_1698-568 others(221): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45568809 | ||||||
chr22:45568809 | G | GGGGAATG others(358): Show |
26 | a0001c0001t0001g0089 a0001c0001t0001g0309 a0001c0001t0001g0312 others(23): Show |
26 | HG01106.hp1 HG01175.hp2 HG01496.hp1 others(23): Show |
intron_variant | MODIFIER | c.1698-5690_1698-568 others(369): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45568809 | ||||||
chr22:45568809 | G | GGGGAATG others(78): Show |
1 | a0001c0002t0001g0202 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1698-5690_1698-568 others(89): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45568809 | ||||||
chr22:45568822 | C | T | 30 | a0001c0001t0001g0089 a0001c0001t0001g0104 a0001c0001t0001g0278 others(27): Show |
30 | HG01106.hp1 HG01175.hp2 HG01496.hp1 others(27): Show |
intron_variant | MODIFIER | c.1698-5689C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568822 | |||||||
chr22:45568936 | C | T | 2 | a0001c0001t0001g0295 a0001c0001t0001g0296 |
2 | HG01257.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.1698-5575C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45568936 | |||||||
chr22:45569117 | G | C | 28 | a0001c0001t0001g0089 a0001c0001t0001g0104 a0001c0001t0001g0278 others(25): Show |
28 | HG01175.hp2 HG01496.hp1 HG01891.hp1 others(25): Show |
intron_variant | MODIFIER | c.1698-5394G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45569117 | |||||||
chr22:45569134 | A | G | 13 | a0001c0001t0001g0089 a0001c0001t0001g0323 a0001c0001t0001g0343 others(10): Show |
13 | HG01496.hp1 HG01891.hp1 HG02280.hp2 others(10): Show |
intron_variant | MODIFIER | c.1698-5377A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45569134 | |||||||
chr22:45569199 | T | TC | 37 | a0001c0001t0001g0036 a0001c0001t0001g0091 a0001c0001t0001g0104 others(34): Show |
37 | HG00558.hp1 HG01106.hp1 HG01175.hp2 others(34): Show |
intron_variant | MODIFIER | c.1698-5304dupC | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45569199 | ||||||
chr22:45569205 | C | CA | 4 | a0001c0001t0001g0089 a0001c0001t0001g0323 a0001c0001t0001g0343 others(1): Show |
4 | HG02572.hp2 HG06807.hp1 NA19240.hp1 others(1): Show |
intron_variant | MODIFIER | c.1698-5306_1698-530 others(5): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45569205 | |||||||
chr22:45569253 | T | C | 230 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(227): Show |
230 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(227): Show |
intron_variant | MODIFIER | c.1698-5258T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45569253 | |||||||
chr22:45569269 | C | T | 44 | a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0048 others(41): Show |
44 | HG00408.hp2 HG00423.hp1 HG00741.hp2 others(41): Show |
intron_variant | MODIFIER | c.1698-5242C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45569269 | |||||||
chr22:45569279 | G | A | 1 | a0001c0001t0002g0275 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.1698-5232G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45569279 | |||||||
chr22:45569436 | C | T | 1 | a0001c0001t0001g0052 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.1698-5075C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45569436 | |||||||
chr22:45569459 | T | G | 8 | a0001c0001t0001g0013 a0001c0001t0001g0158 a0001c0001t0001g0174 others(5): Show |
8 | HG00639.hp2 HG02071.hp1 HG02738.hp2 others(5): Show |
intron_variant | MODIFIER | c.1698-5052T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45569459 | |||||||
chr22:45569509 | T | G | 151 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(148): Show |
151 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(148): Show |
intron_variant | MODIFIER | c.1698-5002T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45569509 | |||||||
chr22:45569526 | C | T | 38 | a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0048 others(35): Show |
38 | HG00408.hp2 HG00423.hp1 HG00741.hp2 others(35): Show |
intron_variant | MODIFIER | c.1698-4985C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45569526 | |||||||
chr22:45569527 | G | T | 156 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(153): Show |
156 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(153): Show |
intron_variant | MODIFIER | c.1698-4984G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45569527 | |||||||
chr22:45569642 | A | AAAG | 25 | a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0051 others(22): Show |
25 | HG00140.hp1 HG00323.hp2 HG00642.hp1 others(22): Show |
intron_variant | MODIFIER | c.1698-4831_1698-482 others(7): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45569642 | ||||||
chr22:45569642 | A | AAAGAAG | 8 | a0001c0001t0001g0013 a0001c0001t0001g0147 a0001c0001t0001g0161 others(5): Show |
8 | HG01081.hp2 HG02486.hp1 HG03540.hp2 others(5): Show |
intron_variant | MODIFIER | c.1698-4834_1698-482 others(10): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45569642 | ||||||
chr22:45569642 | A | AAAGAAGA others(2): Show |
8 | a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0108 others(5): Show |
9 | HG01099.hp1 HG01256.hp2 HG01358.hp1 others(6): Show |
intron_variant | MODIFIER | c.1698-4837_1698-482 others(13): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45569642 | ||||||
chr22:45569642 | A | AAAGAAGA others(5): Show |
1 | a0001c0005t0001g0087 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1698-4840_1698-482 others(16): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45569642 | ||||||
chr22:45569642 | A | AAAGAAGA others(8): Show |
1 | a0001c0001t0001g0045 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.1698-4843_1698-482 others(19): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45569642 | ||||||
chr22:45569642 | AAAG | A | 7 | a0001c0001t0001g0047 a0001c0001t0001g0146 a0001c0001t0001g0164 others(4): Show |
7 | HG00438.hp2 HG02071.hp2 HG02132.hp1 others(4): Show |
intron_variant | MODIFIER | c.1698-4831_1698-482 others(7): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45569642 | ||||||
chr22:45569642 | AAAGAAG | A | 26 | a0001c0001t0001g0089 a0001c0001t0001g0104 a0001c0001t0001g0309 others(23): Show |
26 | HG01106.hp1 HG01175.hp2 HG01496.hp1 others(23): Show |
intron_variant | MODIFIER | c.1698-4834_1698-482 others(10): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45569642 | ||||||
chr22:45569642 | AAAGAAGA others(2): Show |
A | 7 | a0001c0001t0001g0261 a0001c0001t0002g0096 a0001c0001t0009g0251 others(4): Show |
7 | HG01109.hp1 HG01516.hp1 HG02559.hp2 others(4): Show |
intron_variant | MODIFIER | c.1698-4837_1698-482 others(13): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45569642 | ||||||
chr22:45569642 | AAAGAAGA others(5): Show |
A | 42 | a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0048 others(39): Show |
42 | HG00408.hp2 HG00423.hp1 HG00741.hp2 others(39): Show |
intron_variant | MODIFIER | c.1698-4840_1698-482 others(16): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45569642 | ||||||
chr22:45569642 | AAAGAAGA others(8): Show |
A | 145 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(142): Show |
145 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(142): Show |
intron_variant | MODIFIER | c.1698-4843_1698-482 others(19): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45569642 | ||||||
chr22:45569642 | AAAGAAGA others(11): Show |
A | 10 | a0001c0001t0001g0332 a0001c0001t0002g0222 a0001c0001t0002g0318 others(7): Show |
10 | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.1698-4846_1698-482 others(22): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45569642 | ||||||
chr22:45569786 | C | T | 12 | a0001c0001t0001g0309 a0001c0001t0001g0312 a0001c0001t0001g0321 others(9): Show |
12 | HG01106.hp1 HG01175.hp2 HG02109.hp1 others(9): Show |
intron_variant | MODIFIER | c.1698-4725C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45569786 | |||||||
chr22:45569792 | A | G | 151 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(148): Show |
151 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(148): Show |
intron_variant | MODIFIER | c.1698-4719A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45569792 | |||||||
chr22:45569818 | T | C | 226 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(223): Show |
226 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(223): Show |
intron_variant | MODIFIER | c.1698-4693T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45569818 | |||||||
chr22:45570159 | A | C | 3 | a0001c0001t0001g0006 a0001c0001t0001g0133 a0001c0001t0001g0160 |
3 | NA18988.hp1 NA18990.hp2 NA19080.hp2 |
intron_variant | MODIFIER | c.1698-4352A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45570159 | |||||||
chr22:45570185 | T | C | 1 | a0001c0001t0001g0052 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.1698-4326T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45570185 | |||||||
chr22:45570253 | G | A | 225 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(222): Show |
225 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(222): Show |
intron_variant | MODIFIER | c.1698-4258G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45570253 | |||||||
chr22:45570307 | G | A | 28 | a0001c0001t0001g0089 a0001c0001t0001g0104 a0001c0001t0001g0278 others(25): Show |
28 | HG01175.hp2 HG01496.hp1 HG01891.hp1 others(25): Show |
intron_variant | MODIFIER | c.1698-4204G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45570307 | |||||||
chr22:45570319 | C | CA | 21 | a0001c0001t0001g0018 a0001c0001t0001g0036 a0001c0001t0001g0052 others(18): Show |
21 | HG01081.hp1 HG01928.hp1 HG02055.hp1 others(18): Show |
intron_variant | MODIFIER | c.1698-4172dupA | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45570319 | ||||||
chr22:45570319 | C | CAA | 9 | a0001c0001t0001g0069 a0001c0001t0001g0106 a0001c0001t0001g0331 others(6): Show |
9 | HG01243.hp2 HG01891.hp2 HG02055.hp2 others(6): Show |
intron_variant | MODIFIER | c.1698-4173_1698-417 others(6): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45570319 | ||||||
chr22:45570319 | CA | C | 22 | a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0024 others(19): Show |
22 | HG01106.hp1 HG01167.hp1 HG01884.hp1 others(19): Show |
intron_variant | MODIFIER | c.1698-4172delA | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45570319 | ||||||
chr22:45570334 | AAAAAAG | A | 5 | a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0108 others(2): Show |
6 | HG01358.hp2 HG02451.hp1 HG03491.hp2 others(3): Show |
intron_variant | MODIFIER | c.1698-4172_1698-416 others(10): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45570334 | ||||||
chr22:45570335 | A | AAAAG | 13 | a0001c0001t0001g0013 a0001c0001t0001g0045 a0001c0001t0001g0068 others(10): Show |
13 | HG00639.hp2 HG01256.hp2 HG01358.hp1 others(10): Show |
intron_variant | MODIFIER | c.1698-4173_1698-417 others(8): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45570335 | ||||||
chr22:45570335 | A | AG | 26 | a0001c0001t0001g0072 a0001c0001t0001g0089 a0001c0001t0001g0104 others(23): Show |
26 | HG00642.hp2 HG01175.hp2 HG02109.hp1 others(23): Show |
intron_variant | MODIFIER | c.1698-4176_1698-417 others(5): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45570335 | |||||||
chr22:45570335 | A | G | 2 | a0001c0002t0001g0202 a0001c0002t0006g0337 |
2 | HG02622.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.1698-4176A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45570335 | |||||||
chr22:45570340 | G | A | 1 | a0001c0001t0001g0184 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1698-4171G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45570340 | |||||||
chr22:45570355 | GA | G | 224 | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 others(221): Show |
224 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(221): Show |
intron_variant | MODIFIER | c.1698-4146delA | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45570355 | ||||||
chr22:45570419 | A | G | 12 | a0001c0001t0001g0309 a0001c0001t0001g0312 a0001c0001t0001g0321 others(9): Show |
12 | HG01106.hp1 HG01175.hp2 HG02109.hp1 others(9): Show |
intron_variant | MODIFIER | c.1698-4092A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45570419 | |||||||
chr22:45570547 | G | A | 1 | a0001c0002t0001g0202 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1698-3964G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45570547 | |||||||
chr22:45570619 | TA | T | 143 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(140): Show |
143 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(140): Show |
intron_variant | MODIFIER | c.1698-3890delA | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45570619 | ||||||
chr22:45570632 | C | T | 1 | a0001c0001t0001g0195 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1698-3879C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45570632 | |||||||
chr22:45570685 | C | G | 1 | a0001c0002t0003g0329 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.1698-3826C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45570685 | |||||||
chr22:45570851 | G | A | 3 | a0001c0001t0002g0201 a0001c0002t0002g0314 a0001c0004t0001g0339 |
3 | HG02257.hp2 HG02970.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1698-3660G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45570851 | |||||||
chr22:45571053 | G | A | 1 | a0001c0001t0001g0026 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1698-3458G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45571053 | |||||||
chr22:45571111 | CA | C | 11 | a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0061 others(8): Show |
11 | HG00639.hp2 HG01167.hp1 HG01255.hp2 others(8): Show |
intron_variant | MODIFIER | c.1698-3375delA | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45571111 | ||||||
chr22:45571111 | CAAA | C | 46 | a0001c0001t0001g0036 a0001c0001t0001g0089 a0001c0001t0001g0104 others(43): Show |
46 | HG01106.hp1 HG01175.hp2 HG01243.hp2 others(43): Show |
intron_variant | MODIFIER | c.1698-3377_1698-337 others(7): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45571111 | ||||||
chr22:45571111 | CAAAA | C | 165 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(162): Show |
165 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(162): Show |
intron_variant | MODIFIER | c.1698-3378_1698-337 others(8): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45571111 | ||||||
chr22:45571111 | CAAAAA | C | 16 | a0001c0001t0001g0031 a0001c0001t0001g0107 a0001c0001t0001g0245 others(13): Show |
16 | HG00558.hp2 HG01069.hp2 HG01109.hp1 others(13): Show |
intron_variant | MODIFIER | c.1698-3379_1698-337 others(9): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45571111 | ||||||
chr22:45571133 | A | G | 4 | a0001c0001t0001g0184 a0001c0001t0001g0338 a0001c0001t0001g0340 others(1): Show |
4 | HG02280.hp1 HG02615.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.1698-3378A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45571133 | |||||||
chr22:45571167 | A | G | 1 | a0001c0001t0001g0025 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1698-3344A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45571167 | |||||||
chr22:45571190 | A | G | 2 | a0001c0001t0002g0308 a0001c0001t0012g0199 |
2 | HG01496.hp1 HG01891.hp1 |
intron_variant | MODIFIER | c.1698-3321A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45571190 | |||||||
chr22:45571285 | A | G | 1 | a0001c0001t0001g0138 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.1698-3226A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45571285 | |||||||
chr22:45571452 | C | A | 1 | a0001c0002t0001g0202 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1698-3059C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45571452 | |||||||
chr22:45571577 | G | T | 1 | a0001c0001t0003g0230 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1698-2934G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45571577 | |||||||
chr22:45571604 | G | C | 4 | a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0167 others(1): Show |
4 | NA18959.hp1 NA18974.hp2 NA19060.hp1 others(1): Show |
intron_variant | MODIFIER | c.1698-2907G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45571604 | |||||||
chr22:45571646 | G | A | 230 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(227): Show |
230 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(227): Show |
intron_variant | MODIFIER | c.1698-2865G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45571646 | |||||||
chr22:45571745 | G | T | 3 | a0001c0001t0001g0344 a0001c0015t0001g0196 a0003c0027t0001g0005 |
3 | HG02647.hp1 HG02809.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.1698-2766G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45571745 | |||||||
chr22:45571859 | G | T | 1 | a0001c0001t0001g0322 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1698-2652G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45571859 | |||||||
chr22:45571879 | C | T | 1 | a0001c0001t0002g0275 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.1698-2632C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45571879 | |||||||
chr22:45571913 | A | T | 5 | a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0138 others(2): Show |
5 | HG01069.hp1 HG02129.hp2 HG02165.hp1 others(2): Show |
intron_variant | MODIFIER | c.1698-2598A>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45571913 | |||||||
chr22:45572001 | C | T | 5 | a0001c0001t0001g0332 a0001c0001t0003g0303 a0001c0001t0009g0279 others(2): Show |
5 | HG01884.hp1 HG02630.hp2 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.1698-2510C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45572001 | |||||||
chr22:45572077 | C | T | 124 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0020 others(121): Show |
124 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(121): Show |
intron_variant | MODIFIER | c.1698-2434C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45572077 | |||||||
chr22:45572115 | C | T | 1 | a0001c0001t0011g0015 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1698-2396C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45572115 | |||||||
chr22:45572336 | G | A | 2 | a0001c0001t0001g0332 a0001c0001t0003g0303 |
2 | HG02630.hp2 HG02723.hp2 |
intron_variant | MODIFIER | c.1698-2175G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45572336 | |||||||
chr22:45572428 | A | G | 2 | a0001c0001t0001g0332 a0001c0001t0003g0303 |
2 | HG02630.hp2 HG02723.hp2 |
intron_variant | MODIFIER | c.1698-2083A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45572428 | |||||||
chr22:45572428 | A | T | 2 | a0001c0001t0001g0309 a0001c0001t0001g0321 |
2 | HG01106.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.1698-2083A>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45572428 | |||||||
chr22:45572562 | GA | G | 13 | a0001c0001t0001g0089 a0001c0001t0001g0323 a0001c0001t0001g0343 others(10): Show |
13 | HG01496.hp1 HG01891.hp1 HG02280.hp2 others(10): Show |
intron_variant | MODIFIER | c.1698-1947delA | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45572562 | ||||||
chr22:45572584 | G | C | 5 | a0001c0001t0001g0104 a0001c0001t0001g0278 a0001c0001t0001g0330 others(2): Show |
5 | HG02258.hp1 HG02572.hp1 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.1698-1927G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45572584 | |||||||
chr22:45572608 | G | A | 230 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(227): Show |
230 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(227): Show |
intron_variant | MODIFIER | c.1698-1903G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45572608 | |||||||
chr22:45572766 | C | T | 1 | a0001c0001t0001g0263 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.1698-1745C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45572766 | |||||||
chr22:45572847 | A | T | 2 | a0001c0001t0001g0014 a0001c0002t0001g0169 |
2 | HG03834.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.1698-1664A>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45572847 | |||||||
chr22:45573183 | G | A | 1 | a0001c0001t0001g0129 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.1698-1328G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45573183 | |||||||
chr22:45573397 | C | T | 3 | a0001c0001t0001g0344 a0001c0015t0001g0196 a0003c0027t0001g0005 |
3 | HG02647.hp1 HG02809.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.1698-1114C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45573397 | |||||||
chr22:45573424 | C | T | 3 | a0001c0001t0002g0201 a0001c0002t0002g0314 a0001c0004t0001g0339 |
3 | HG02257.hp2 HG02970.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1698-1087C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45573424 | |||||||
chr22:45573475 | A | T | 1 | a0001c0001t0001g0341 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1698-1036A>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45573475 | |||||||
chr22:45573551 | T | C | 253 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0013 others(250): Show |
254 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(251): Show |
intron_variant | MODIFIER | c.1698-960T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45573551 | |||||||
chr22:45573552 | G | A | 18 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0025 others(15): Show |
19 | HG00639.hp2 HG01256.hp2 HG01358.hp1 others(16): Show |
intron_variant | MODIFIER | c.1698-959G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45573552 | |||||||
chr22:45573680 | C | CA | 12 | a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0170 others(9): Show |
12 | HG00735.hp1 HG02129.hp1 HG02615.hp1 others(9): Show |
intron_variant | MODIFIER | c.1698-810dupA | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45573680 | ||||||
chr22:45573680 | C | CAAAA | 52 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0025 others(49): Show |
53 | HG00408.hp2 HG00544.hp1 HG00639.hp2 others(50): Show |
intron_variant | MODIFIER | c.1698-813_1698-810d others(6): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45573680 | ||||||
chr22:45573680 | C | CAAAAA | 123 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0020 others(120): Show |
123 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(120): Show |
intron_variant | MODIFIER | c.1698-814_1698-810d others(7): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45573680 | ||||||
chr22:45573680 | C | CAAAAAA | 61 | a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0029 others(58): Show |
61 | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(58): Show |
intron_variant | MODIFIER | c.1698-815_1698-810d others(8): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45573680 | ||||||
chr22:45573680 | C | CAAAAAAA others(3): Show |
4 | a0001c0001t0001g0332 a0001c0001t0003g0303 a0001c0002t0001g0203 others(1): Show |
4 | HG01884.hp1 HG02630.hp2 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.1698-819_1698-810d others(12): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45573680 | ||||||
chr22:45573680 | C | CAAAAAAA others(4): Show |
1 | a0001c0001t0009g0279 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1698-820_1698-810d others(13): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45573680 | ||||||
chr22:45573702 | C | A | 1 | a0001c0001t0001g0248 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.1698-809C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45573702 | |||||||
chr22:45573825 | G | T | 1 | a0001c0001t0011g0015 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1698-686G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45573825 | |||||||
chr22:45573982 | T | TCTC | 255 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0013 others(252): Show |
256 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(253): Show |
intron_variant | MODIFIER | c.1698-527_1698-526i others(5): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | 45573982 | ||||||
chr22:45574041 | G | T | 2 | a0001c0001t0001g0184 a0001c0014t0001g0116 |
2 | HG03098.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1698-470G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45574041 | |||||||
chr22:45574050 | T | C | 4 | a0001c0001t0001g0184 a0001c0001t0001g0338 a0001c0001t0001g0340 others(1): Show |
4 | HG02280.hp1 HG02615.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.1698-461T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45574050 | |||||||
chr22:45574139 | C | G | 3 | a0001c0001t0001g0344 a0001c0015t0001g0196 a0003c0027t0001g0005 |
3 | HG02647.hp1 HG02809.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.1698-372C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45574139 | |||||||
chr22:45574149 | C | T | 254 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0013 others(251): Show |
255 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(252): Show |
intron_variant | MODIFIER | c.1698-362C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45574149 | |||||||
chr22:45574338 | A | G | 1 | a0001c0001t0001g0183 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1698-173A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45574338 | |||||||
chr22:45574386 | A | T | 1 | a0004c0007t0002g0084 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1698-125A>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45574386 | |||||||
chr22:45574480 | C | T | 2 | a0001c0001t0002g0201 a0001c0002t0002g0314 |
2 | HG02970.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1698-31C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45574480 | |||||||
chr22:45574489 | C | T | 2 | a0001c0001t0001g0189 a0001c0001t0008g0333 |
2 | HG01109.hp2 HG01884.hp2 |
intron_variant | MODIFIER | c.1698-22C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | chr22 | 45574489 | |||||||
chr22:45574679 | C | T | 1 | a0001c0001t0001g0220 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.1840+26C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 15/16 | chr22 | 45574679 | |||||||
chr22:45574692 | G | T | 1 | a0001c0001t0003g0209 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.1840+39G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 15/16 | chr22 | 45574692 | |||||||
chr22:45574711 | T | G | 4 | a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0002t0001g0008 others(1): Show |
4 | HG00642.hp1 HG00738.hp1 HG01123.hp1 others(1): Show |
intron_variant | MODIFIER | c.1840+58T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 15/16 | chr22 | 45574711 | |||||||
chr22:45574777 | C | CT | 75 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0024 others(72): Show |
76 | HG00408.hp1 HG00544.hp2 HG00639.hp1 others(73): Show |
intron_variant | MODIFIER | c.1840+146dupT | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr22 | 45574777 | ||||||
chr22:45574777 | C | CTT | 10 | a0001c0001t0001g0013 a0001c0001t0001g0177 a0001c0001t0001g0323 others(7): Show |
10 | HG02257.hp2 HG02572.hp1 HG02572.hp2 others(7): Show |
intron_variant | MODIFIER | c.1840+145_1840+146d others(4): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr22 | 45574777 | ||||||
chr22:45574777 | CT | C | 6 | a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0145 others(3): Show |
6 | HG02258.hp1 HG02698.hp1 HG04184.hp2 others(3): Show |
intron_variant | MODIFIER | c.1840+146delT | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr22 | 45574777 | ||||||
chr22:45575050 | G | A | 3 | a0001c0001t0004g0306 a0001c0001t0004g0345 a0001c0009t0004g0180 |
3 | HG02886.hp1 HG02886.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1840+397G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 15/16 | chr22 | 45575050 | |||||||
chr22:45575071 | C | G | 3 | a0001c0001t0001g0107 a0001c0001t0003g0209 a0001c0002t0001g0173 |
3 | HG01515.hp2 HG01516.hp2 HG03017.hp1 |
intron_variant | MODIFIER | c.1840+418C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 15/16 | chr22 | 45575071 | |||||||
chr22:45575077 | T | C | 131 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0013 others(128): Show |
132 | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(129): Show |
intron_variant | MODIFIER | c.1840+424T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 15/16 | chr22 | 45575077 | |||||||
chr22:45575188 | G | C | 2 | a0001c0001t0001g0051 a0001c0002t0001g0040 |
2 | NA18944.hp1 NA18966.hp2 |
intron_variant | MODIFIER | c.1840+535G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 15/16 | chr22 | 45575188 | |||||||
chr22:45575278 | T | C | 234 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0013 others(231): Show |
235 | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(232): Show |
intron_variant | MODIFIER | c.1840+625T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 15/16 | chr22 | 45575278 | |||||||
chr22:45575301 | G | A | 1 | a0001c0001t0001g0239 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.1840+648G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 15/16 | chr22 | 45575301 | |||||||
chr22:45575319 | G | A | 1 | a0001c0001t0001g0235 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.1840+666G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 15/16 | chr22 | 45575319 | |||||||
chr22:45575411 | A | G | 235 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(232): Show |
236 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(233): Show |
intron_variant | MODIFIER | c.1840+758A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 15/16 | chr22 | 45575411 | |||||||
chr22:45575496 | AC | A | 6 | a0001c0001t0001g0113 a0001c0001t0001g0332 a0001c0001t0003g0303 others(3): Show |
6 | HG02258.hp1 HG02572.hp1 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.1840+848delC | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr22 | 45575496 | ||||||
chr22:45575580 | G | A | 10 | a0001c0001t0003g0098 a0001c0001t0006g0324 a0001c0002t0001g0336 others(7): Show |
10 | HG01433.hp2 HG02055.hp1 HG02615.hp1 others(7): Show |
intron_variant | MODIFIER | c.1840+927G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 15/16 | chr22 | 45575580 | |||||||
chr22:45575610 | G | A | 25 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 others(22): Show |
26 | HG00408.hp1 HG00639.hp2 HG01358.hp2 others(23): Show |
intron_variant | MODIFIER | c.1840+957G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 15/16 | chr22 | 45575610 | |||||||
chr22:45575681 | T | C | 1 | a0001c0001t0001g0248 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.1840+1028T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 15/16 | chr22 | 45575681 | |||||||
chr22:45575842 | C | T | 1 | a0001c0001t0001g0238 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.1841-1135C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 15/16 | chr22 | 45575842 | |||||||
chr22:45576000 | G | A | 107 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0020 others(104): Show |
107 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(104): Show |
intron_variant | MODIFIER | c.1841-977G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 15/16 | chr22 | 45576000 | |||||||
chr22:45576037 | C | CA | 13 | a0001c0001t0001g0104 a0001c0001t0001g0278 a0001c0001t0001g0307 others(10): Show |
13 | HG02280.hp2 HG02486.hp2 HG02559.hp2 others(10): Show |
intron_variant | MODIFIER | c.1841-940_1841-939i others(3): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 15/16 | chr22 | 45576037 | |||||||
chr22:45576065 | T | C | 13 | a0001c0001t0001g0104 a0001c0001t0001g0278 a0001c0001t0001g0307 others(10): Show |
13 | HG02280.hp2 HG02486.hp2 HG02559.hp2 others(10): Show |
intron_variant | MODIFIER | c.1841-912T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 15/16 | chr22 | 45576065 | |||||||
chr22:45576072 | G | A | 2 | a0001c0002t0002g0335 a0001c0005t0001g0087 |
2 | HG02486.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.1841-905G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 15/16 | chr22 | 45576072 | |||||||
chr22:45576137 | A | G | 226 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(223): Show |
227 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(224): Show |
intron_variant | MODIFIER | c.1841-840A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 15/16 | chr22 | 45576137 | |||||||
chr22:45576156 | T | G | 1 | a0001c0001t0001g0026 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1841-821T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 15/16 | chr22 | 45576156 | |||||||
chr22:45576160 | A | G | 1 | a0001c0001t0004g0306 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1841-817A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 15/16 | chr22 | 45576160 | |||||||
chr22:45576323 | C | T | 2 | a0001c0001t0001g0113 a0001c0001t0003g0198 |
2 | HG02897.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.1841-654C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 15/16 | chr22 | 45576323 | |||||||
chr22:45576590 | G | A | 1 | a0001c0002t0002g0274 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1841-387G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 15/16 | chr22 | 45576590 | |||||||
chr22:45576671 | A | G | 55 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0018 others(52): Show |
56 | HG00408.hp1 HG00639.hp2 HG01069.hp1 others(53): Show |
intron_variant | MODIFIER | c.1841-306A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 15/16 | chr22 | 45576671 | |||||||
chr22:45576730 | G | A | 111 | a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 others(108): Show |
111 | HG00140.hp2 HG00323.hp1 HG00408.hp2 others(108): Show |
intron_variant | MODIFIER | c.1841-247G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 15/16 | chr22 | 45576730 | |||||||
chr22:45576810 | C | A | 1 | a0001c0001t0001g0248 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.1841-167C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 15/16 | chr22 | 45576810 | |||||||
chr22:45576848 | T | C | 7 | a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0004g0112 others(4): Show |
7 | HG00741.hp1 HG01243.hp2 HG01884.hp1 others(4): Show |
intron_variant | MODIFIER | c.1841-129T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 15/16 | chr22 | 45576848 | |||||||
chr22:45576899 | T | C | 3 | a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0002t0001g0016 |
3 | HG00741.hp1 HG01243.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.1841-78T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 15/16 | chr22 | 45576899 | |||||||
chr22:45576913 | C | T | 1 | a0001c0001t0001g0299 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.1841-64C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 15/16 | chr22 | 45576913 | |||||||
chr22:45577271 | G | A | 1 | a0001c0001t0001g0343 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1972+163G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45577271 | |||||||
chr22:45577300 | C | T | 1 | a0001c0002t0002g0304 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1972+192C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45577300 | |||||||
chr22:45577412 | C | G | 2 | a0001c0001t0001g0219 a0007c0016t0001g0046 |
2 | NA18975.hp2 NA19005.hp2 |
intron_variant | MODIFIER | c.1972+304C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45577412 | |||||||
chr22:45577772 | T | C | 1 | a0001c0001t0001g0071 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1972+664T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45577772 | |||||||
chr22:45578027 | C | A | 1 | a0001c0001t0001g0134 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.1972+919C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45578027 | |||||||
chr22:45578034 | T | A | 1 | a0001c0017t0001g0300 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.1972+926T>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45578034 | |||||||
chr22:45578038 | T | A | 2 | a0001c0001t0001g0089 a0001c0002t0002g0274 |
2 | HG03041.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1972+930T>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45578038 | |||||||
chr22:45578146 | A | G | 2 | a0001c0001t0002g0096 a0001c0006t0001g0313 |
2 | HG02976.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1972+1038A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45578146 | |||||||
chr22:45578266 | A | G | 2 | a0001c0001t0002g0308 a0001c0002t0002g0274 |
2 | HG01496.hp1 HG03041.hp2 |
intron_variant | MODIFIER | c.1972+1158A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45578266 | |||||||
chr22:45578453 | G | T | 1 | a0001c0001t0001g0113 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1972+1345G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45578453 | |||||||
chr22:45578623 | GGTCAGGG others(9): Show |
G | 15 | a0001c0001t0001g0113 a0001c0001t0002g0270 a0001c0001t0002g0308 others(12): Show |
15 | HG01099.hp1 HG01109.hp2 HG01243.hp2 others(12): Show |
intron_variant | MODIFIER | c.1972+1519_1972+153 others(20): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45578623 | ||||||
chr22:45578687 | G | A | 2 | a0001c0002t0001g0240 a0001c0002t0001g0241 |
2 | HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.1972+1579G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45578687 | |||||||
chr22:45578753 | C | T | 2 | a0001c0001t0009g0251 a0001c0001t0009g0279 |
2 | HG02559.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.1972+1645C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45578753 | |||||||
chr22:45578776 | G | A | 1 | a0001c0014t0001g0116 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1972+1668G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45578776 | |||||||
chr22:45578877 | A | G | 250 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(247): Show |
251 | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(248): Show |
intron_variant | MODIFIER | c.1972+1769A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45578877 | |||||||
chr22:45578941 | C | G | 1 | a0001c0001t0001g0312 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1972+1833C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45578941 | |||||||
chr22:45579033 | T | C | 257 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(254): Show |
258 | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(255): Show |
intron_variant | MODIFIER | c.1972+1925T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45579033 | |||||||
chr22:45579102 | C | T | 14 | a0001c0001t0001g0069 a0001c0001t0001g0106 a0001c0001t0001g0307 others(11): Show |
14 | HG02055.hp1 HG02055.hp2 HG02145.hp1 others(11): Show |
intron_variant | MODIFIER | c.1972+1994C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45579102 | |||||||
chr22:45579277 | C | T | 3 | a0001c0001t0001g0344 a0001c0015t0001g0196 a0003c0027t0001g0005 |
3 | HG02647.hp1 HG02809.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.1972+2169C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45579277 | |||||||
chr22:45579303 | C | T | 1 | a0004c0007t0002g0084 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1972+2195C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45579303 | |||||||
chr22:45579427 | G | A | 3 | a0001c0001t0001g0104 a0001c0001t0001g0278 a0001c0002t0001g0336 |
3 | HG02717.hp2 HG03486.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1972+2319G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45579427 | |||||||
chr22:45579671 | G | A | 4 | a0001c0001t0007g0103 a0001c0005t0007g0085 a0001c0024t0001g0191 others(1): Show |
4 | HG02572.hp1 HG02622.hp2 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.1972+2563G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45579671 | |||||||
chr22:45579685 | C | T | 4 | a0001c0001t0002g0201 a0001c0001t0002g0334 a0001c0002t0002g0314 others(1): Show |
4 | HG01943.hp2 HG02896.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.1972+2577C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45579685 | |||||||
chr22:45579701 | T | G | 1 | a0001c0001t0001g0118 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.1972+2593T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45579701 | |||||||
chr22:45579986 | T | C | 3 | a0001c0001t0001g0104 a0001c0001t0001g0278 a0001c0002t0001g0336 |
3 | HG02717.hp2 HG03486.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1972+2878T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45579986 | |||||||
chr22:45580010 | C | T | 1 | a0001c0001t0001g0134 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.1972+2902C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45580010 | |||||||
chr22:45580107 | G | A | 9 | a0001c0001t0001g0113 a0001c0001t0002g0096 a0001c0001t0002g0270 others(6): Show |
9 | HG01496.hp1 HG02486.hp2 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.1972+2999G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45580107 | |||||||
chr22:45580133 | G | T | 3 | a0001c0001t0001g0104 a0001c0001t0001g0278 a0001c0002t0001g0336 |
3 | HG02717.hp2 HG03486.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1972+3025G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45580133 | |||||||
chr22:45580153 | C | T | 7 | a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0044 others(4): Show |
7 | HG03688.hp2 NA18948.hp1 NA18988.hp2 others(4): Show |
intron_variant | MODIFIER | c.1972+3045C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45580153 | |||||||
chr22:45580262 | G | A | 9 | a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0090 others(6): Show |
9 | HG00544.hp2 HG00597.hp2 HG01123.hp2 others(6): Show |
intron_variant | MODIFIER | c.1972+3154G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45580262 | |||||||
chr22:45580265 | G | A | 3 | a0001c0001t0001g0104 a0001c0001t0001g0278 a0001c0002t0001g0336 |
3 | HG02717.hp2 HG03486.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1972+3157G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45580265 | |||||||
chr22:45580625 | G | C | 4 | a0001c0001t0001g0071 a0001c0001t0001g0184 a0001c0001t0001g0331 others(1): Show |
4 | HG02922.hp2 HG03098.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.1972+3517G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45580625 | |||||||
chr22:45580711 | T | C | 1 | a0001c0001t0001g0320 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1972+3603T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45580711 | |||||||
chr22:45580754 | C | T | 1 | a0001c0001t0001g0223 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.1972+3646C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45580754 | |||||||
chr22:45580758 | G | A | 1 | a0001c0001t0001g0320 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1972+3650G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45580758 | |||||||
chr22:45580783 | G | C | 5 | a0001c0001t0001g0119 a0001c0001t0001g0250 a0001c0001t0003g0148 others(2): Show |
5 | HG00735.hp2 HG01167.hp2 HG01192.hp1 others(2): Show |
intron_variant | MODIFIER | c.1972+3675G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45580783 | |||||||
chr22:45580842 | G | A | 4 | a0001c0001t0002g0058 a0001c0001t0002g0094 a0001c0001t0002g0275 others(1): Show |
4 | HG02109.hp2 HG02683.hp1 HG02698.hp1 others(1): Show |
intron_variant | MODIFIER | c.1972+3734G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45580842 | |||||||
chr22:45580847 | C | T | 1 | a0001c0001t0001g0319 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.1972+3739C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45580847 | |||||||
chr22:45580877 | C | T | 3 | a0001c0001t0001g0104 a0001c0001t0001g0278 a0001c0002t0001g0336 |
3 | HG02717.hp2 HG03486.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1972+3769C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45580877 | |||||||
chr22:45580893 | C | G | 1 | a0001c0001t0001g0146 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.1972+3785C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45580893 | |||||||
chr22:45580894 | G | C | 1 | a0001c0001t0001g0146 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.1972+3786G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45580894 | |||||||
chr22:45580895 | C | T | 1 | a0001c0001t0001g0146 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.1972+3787C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45580895 | |||||||
chr22:45581120 | A | C | 3 | a0001c0001t0001g0104 a0001c0001t0001g0278 a0001c0002t0001g0336 |
3 | HG02717.hp2 HG03486.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1972+4012A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45581120 | |||||||
chr22:45581190 | A | T | 251 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(248): Show |
252 | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(249): Show |
intron_variant | MODIFIER | c.1972+4082A>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45581190 | |||||||
chr22:45581212 | C | G | 1 | a0001c0001t0001g0100 | 1 | NA19086.hp2 | intron_variant | MODIFIER | c.1972+4104C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45581212 | |||||||
chr22:45581231 | C | T | 2 | a0001c0001t0001g0018 a0001c0001t0001g0257 |
2 | HG02818.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.1972+4123C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45581231 | |||||||
chr22:45581269 | T | A | 8 | a0001c0001t0001g0071 a0001c0001t0001g0184 a0001c0001t0001g0331 others(5): Show |
8 | HG02280.hp2 HG02451.hp2 HG02809.hp1 others(5): Show |
intron_variant | MODIFIER | c.1972+4161T>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45581269 | |||||||
chr22:45581404 | C | T | 2 | a0001c0001t0001g0018 a0001c0001t0001g0257 |
2 | HG02818.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.1972+4296C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45581404 | |||||||
chr22:45581474 | A | G | 1 | a0001c0002t0001g0283 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.1972+4366A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45581474 | |||||||
chr22:45581487 | T | C | 8 | a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0044 others(5): Show |
8 | NA18948.hp1 NA18988.hp2 NA18995.hp2 others(5): Show |
intron_variant | MODIFIER | c.1972+4379T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45581487 | |||||||
chr22:45581529 | T | C | 3 | a0001c0001t0001g0344 a0001c0015t0001g0196 a0003c0027t0001g0005 |
3 | HG02647.hp1 HG02809.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.1972+4421T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45581529 | |||||||
chr22:45581535 | C | T | 61 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0020 others(58): Show |
62 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(59): Show |
intron_variant | MODIFIER | c.1972+4427C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45581535 | |||||||
chr22:45581637 | G | A | 8 | a0001c0001t0001g0071 a0001c0001t0001g0184 a0001c0001t0001g0331 others(5): Show |
8 | HG02280.hp2 HG02451.hp2 HG02809.hp1 others(5): Show |
intron_variant | MODIFIER | c.1972+4529G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45581637 | |||||||
chr22:45581682 | C | T | 39 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0020 others(36): Show |
40 | HG00408.hp1 HG00639.hp2 HG01069.hp1 others(37): Show |
intron_variant | MODIFIER | c.1972+4574C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45581682 | |||||||
chr22:45581716 | C | T | 125 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(122): Show |
125 | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(122): Show |
intron_variant | MODIFIER | c.1972+4608C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45581716 | |||||||
chr22:45581782 | A | T | 1 | a0001c0001t0001g0146 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.1972+4674A>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45581782 | |||||||
chr22:45581794 | C | T | 39 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0020 others(36): Show |
40 | HG00408.hp1 HG00639.hp2 HG01069.hp1 others(37): Show |
intron_variant | MODIFIER | c.1972+4686C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45581794 | |||||||
chr22:45581945 | C | T | 1 | a0001c0002t0001g0010 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1972+4837C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45581945 | |||||||
chr22:45581981 | G | A | 2 | a0001c0001t0001g0309 a0001c0001t0001g0321 |
2 | HG01106.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.1972+4873G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45581981 | |||||||
chr22:45582091 | C | T | 3 | a0001c0001t0001g0344 a0001c0015t0001g0196 a0003c0027t0001g0005 |
3 | HG02647.hp1 HG02809.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.1972+4983C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45582091 | |||||||
chr22:45582092 | G | A | 10 | a0001c0001t0001g0068 a0001c0001t0001g0309 a0001c0001t0001g0321 others(7): Show |
10 | HG01106.hp1 HG02109.hp1 HG02723.hp1 others(7): Show |
intron_variant | MODIFIER | c.1972+4984G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45582092 | |||||||
chr22:45582141 | G | A | 1 | a0001c0001t0001g0320 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1972+5033G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45582141 | |||||||
chr22:45582167 | C | T | 122 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(119): Show |
122 | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(119): Show |
intron_variant | MODIFIER | c.1972+5059C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45582167 | |||||||
chr22:45582217 | G | A | 2 | a0001c0001t0008g0205 a0001c0001t0008g0333 |
2 | HG01099.hp1 HG01109.hp2 |
intron_variant | MODIFIER | c.1972+5109G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45582217 | |||||||
chr22:45582364 | C | T | 125 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(122): Show |
125 | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(122): Show |
intron_variant | MODIFIER | c.1972+5256C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45582364 | |||||||
chr22:45582505 | G | C | 2 | a0001c0001t0001g0071 a0001c0001t0003g0230 |
2 | HG02922.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.1972+5397G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45582505 | |||||||
chr22:45582507 | C | T | 26 | a0001c0001t0002g0058 a0001c0001t0002g0094 a0001c0001t0002g0201 others(23): Show |
26 | HG01433.hp2 HG01891.hp2 HG01943.hp2 others(23): Show |
intron_variant | MODIFIER | c.1972+5399C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45582507 | |||||||
chr22:45582508 | G | A | 123 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0019 others(120): Show |
123 | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(120): Show |
intron_variant | MODIFIER | c.1972+5400G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45582508 | |||||||
chr22:45582661 | G | A | 3 | a0001c0001t0001g0104 a0001c0001t0001g0278 a0001c0002t0001g0336 |
3 | HG02717.hp2 HG03486.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1972+5553G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45582661 | |||||||
chr22:45582674 | G | A | 1 | a0001c0001t0002g0073 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1972+5566G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45582674 | |||||||
chr22:45582781 | C | T | 125 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(122): Show |
125 | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(122): Show |
intron_variant | MODIFIER | c.1972+5673C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45582781 | |||||||
chr22:45582782 | G | A | 4 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 others(1): Show |
4 | HG00140.hp2 HG01515.hp2 HG02451.hp1 others(1): Show |
intron_variant | MODIFIER | c.1972+5674G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45582782 | |||||||
chr22:45582821 | G | A | 10 | a0001c0001t0001g0068 a0001c0001t0001g0309 a0001c0001t0001g0321 others(7): Show |
10 | HG01106.hp1 HG02109.hp1 HG02723.hp1 others(7): Show |
intron_variant | MODIFIER | c.1972+5713G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45582821 | |||||||
chr22:45582838 | G | A | 125 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(122): Show |
125 | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(122): Show |
intron_variant | MODIFIER | c.1972+5730G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45582838 | |||||||
chr22:45582890 | G | A | 125 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(122): Show |
125 | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(122): Show |
intron_variant | MODIFIER | c.1972+5782G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45582890 | |||||||
chr22:45582951 | T | C | 125 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(122): Show |
125 | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(122): Show |
intron_variant | MODIFIER | c.1972+5843T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45582951 | |||||||
chr22:45582973 | C | T | 125 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(122): Show |
125 | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(122): Show |
intron_variant | MODIFIER | c.1972+5865C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45582973 | |||||||
chr22:45582974 | G | A | 10 | a0001c0001t0001g0068 a0001c0001t0001g0309 a0001c0001t0001g0321 others(7): Show |
10 | HG01106.hp1 HG02109.hp1 HG02723.hp1 others(7): Show |
intron_variant | MODIFIER | c.1972+5866G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45582974 | |||||||
chr22:45582988 | G | A | 8 | a0001c0001t0001g0071 a0001c0001t0001g0184 a0001c0001t0001g0331 others(5): Show |
8 | HG02280.hp2 HG02451.hp2 HG02809.hp1 others(5): Show |
intron_variant | MODIFIER | c.1972+5880G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45582988 | |||||||
chr22:45583025 | C | T | 125 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(122): Show |
125 | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(122): Show |
intron_variant | MODIFIER | c.1972+5917C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45583025 | |||||||
chr22:45583038 | T | G | 125 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(122): Show |
125 | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(122): Show |
intron_variant | MODIFIER | c.1972+5930T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45583038 | |||||||
chr22:45583045 | C | T | 2 | a0001c0001t0001g0149 a0001c0001t0001g0150 |
2 | HG01256.hp2 NA20752.hp2 |
intron_variant | MODIFIER | c.1972+5937C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45583045 | |||||||
chr22:45583276 | G | A | 1 | a0001c0024t0001g0191 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1972+6168G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45583276 | |||||||
chr22:45583292 | G | A | 1 | a0001c0001t0001g0124 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1972+6184G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45583292 | |||||||
chr22:45583349 | C | T | 1 | a0001c0002t0002g0304 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1972+6241C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45583349 | |||||||
chr22:45583678 | A | C | 28 | a0001c0001t0002g0058 a0001c0001t0002g0094 a0001c0001t0002g0201 others(25): Show |
28 | HG01433.hp2 HG01891.hp2 HG01943.hp2 others(25): Show |
intron_variant | MODIFIER | c.1972+6570A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45583678 | |||||||
chr22:45583844 | T | C | 124 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(121): Show |
124 | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(121): Show |
intron_variant | MODIFIER | c.1972+6736T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45583844 | |||||||
chr22:45583895 | C | T | 59 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0020 others(56): Show |
60 | HG00408.hp1 HG00639.hp2 HG01069.hp1 others(57): Show |
intron_variant | MODIFIER | c.1972+6787C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45583895 | |||||||
chr22:45583941 | C | T | 120 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(117): Show |
120 | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(117): Show |
intron_variant | MODIFIER | c.1972+6833C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45583941 | |||||||
chr22:45583973 | TATCGATG others(9): Show |
T | 1 | a0001c0002t0001g0039 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.1972+6866_1972+688 others(20): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45583973 | |||||||
chr22:45584182 | T | C | 120 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(117): Show |
120 | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(117): Show |
intron_variant | MODIFIER | c.1972+7074T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45584182 | |||||||
chr22:45584208 | A | C | 2 | a0001c0002t0001g0202 a0004c0007t0001g0083 |
2 | HG02622.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.1972+7100A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45584208 | |||||||
chr22:45584238 | C | T | 10 | a0001c0001t0001g0068 a0001c0001t0001g0309 a0001c0001t0001g0321 others(7): Show |
10 | HG01106.hp1 HG02109.hp1 HG02723.hp1 others(7): Show |
intron_variant | MODIFIER | c.1972+7130C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45584238 | |||||||
chr22:45584352 | T | C | 1 | a0001c0001t0001g0238 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.1972+7244T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45584352 | |||||||
chr22:45584418 | G | A | 54 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0020 others(51): Show |
55 | HG00408.hp1 HG00639.hp2 HG01069.hp1 others(52): Show |
intron_variant | MODIFIER | c.1972+7310G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45584418 | |||||||
chr22:45584647 | A | G | 1 | a0001c0014t0001g0116 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1972+7539A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45584647 | |||||||
chr22:45584705 | G | GT | 18 | a0001c0001t0001g0018 a0001c0001t0001g0113 a0001c0001t0001g0257 others(15): Show |
18 | HG01099.hp1 HG01109.hp2 HG01243.hp2 others(15): Show |
intron_variant | MODIFIER | c.1972+7597_1972+759 others(5): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45584705 | |||||||
chr22:45584849 | G | A | 1 | a0001c0001t0001g0146 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.1972+7741G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45584849 | |||||||
chr22:45584850 | A | G | 1 | a0001c0001t0001g0146 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.1972+7742A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45584850 | |||||||
chr22:45584851 | G | A | 1 | a0001c0001t0001g0146 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.1972+7743G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45584851 | |||||||
chr22:45584898 | A | G | 4 | a0001c0001t0002g0222 a0001c0001t0002g0318 a0001c0002t0002g0017 others(1): Show |
4 | HG01891.hp2 HG02559.hp1 HG03453.hp1 others(1): Show |
intron_variant | MODIFIER | c.1972+7790A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45584898 | |||||||
chr22:45584920 | C | T | 124 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(121): Show |
124 | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(121): Show |
intron_variant | MODIFIER | c.1972+7812C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45584920 | |||||||
chr22:45585028 | C | A | 39 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0020 others(36): Show |
40 | HG00408.hp1 HG00639.hp2 HG01069.hp1 others(37): Show |
intron_variant | MODIFIER | c.1972+7920C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45585028 | |||||||
chr22:45585110 | T | TGA | 6 | a0001c0001t0002g0073 a0001c0004t0001g0316 a0001c0006t0001g0192 others(3): Show |
6 | HG02055.hp1 HG02965.hp1 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.1972+8015_1972+801 others(6): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45585110 | ||||||
chr22:45585198 | C | T | 1 | a0004c0007t0002g0084 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1972+8090C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45585198 | |||||||
chr22:45585220 | C | A | 27 | a0001c0001t0002g0058 a0001c0001t0002g0094 a0001c0001t0002g0201 others(24): Show |
27 | HG01433.hp2 HG01891.hp2 HG01943.hp2 others(24): Show |
intron_variant | MODIFIER | c.1972+8112C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45585220 | |||||||
chr22:45585248 | C | T | 2 | a0001c0001t0001g0019 a0001c0001t0001g0166 |
2 | NA18974.hp1 NA18974.hp2 |
intron_variant | MODIFIER | c.1972+8140C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45585248 | |||||||
chr22:45585249 | G | A | 1 | a0001c0002t0002g0105 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1972+8141G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45585249 | |||||||
chr22:45585386 | T | G | 3 | a0001c0002t0001g0067 a0001c0002t0001g0228 a0001c0002t0001g0229 |
3 | NA18971.hp2 NA19010.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.1972+8278T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45585386 | |||||||
chr22:45585403 | C | T | 1 | a0001c0001t0001g0078 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.1972+8295C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45585403 | |||||||
chr22:45585414 | G | A | 124 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(121): Show |
124 | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(121): Show |
intron_variant | MODIFIER | c.1972+8306G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45585414 | |||||||
chr22:45585502 | G | A | 1 | a0001c0002t0001g0152 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.1972+8394G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45585502 | |||||||
chr22:45585505 | C | T | 124 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(121): Show |
124 | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(121): Show |
intron_variant | MODIFIER | c.1972+8397C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45585505 | |||||||
chr22:45585506 | G | A | 1 | a0001c0001t0001g0312 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1972+8398G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45585506 | |||||||
chr22:45585516 | A | G | 125 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(122): Show |
125 | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(122): Show |
intron_variant | MODIFIER | c.1972+8408A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45585516 | |||||||
chr22:45585567 | C | T | 120 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(117): Show |
120 | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(117): Show |
intron_variant | MODIFIER | c.1972+8459C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45585567 | |||||||
chr22:45585611 | G | C | 124 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(121): Show |
124 | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(121): Show |
intron_variant | MODIFIER | c.1972+8503G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45585611 | |||||||
chr22:45585612 | C | T | 124 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(121): Show |
124 | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(121): Show |
intron_variant | MODIFIER | c.1972+8504C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45585612 | |||||||
chr22:45585624 | T | C | 124 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(121): Show |
124 | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(121): Show |
intron_variant | MODIFIER | c.1972+8516T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45585624 | |||||||
chr22:45585774 | G | A | 1 | a0001c0001t0001g0140 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.1972+8666G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45585774 | |||||||
chr22:45585778 | G | A | 17 | a0001c0001t0001g0089 a0001c0001t0001g0307 a0001c0001t0001g0312 others(14): Show |
17 | HG02055.hp1 HG02145.hp1 HG02257.hp2 others(14): Show |
intron_variant | MODIFIER | c.1972+8670G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45585778 | |||||||
chr22:45585786 | C | A | 3 | a0001c0001t0001g0104 a0001c0001t0001g0278 a0001c0002t0001g0336 |
3 | HG02717.hp2 HG03486.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1972+8678C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45585786 | |||||||
chr22:45585798 | G | A | 1 | a0004c0007t0001g0083 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1972+8690G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45585798 | |||||||
chr22:45585839 | A | G | 124 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(121): Show |
124 | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(121): Show |
intron_variant | MODIFIER | c.1972+8731A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45585839 | |||||||
chr22:45585849 | G | C | 124 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(121): Show |
124 | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(121): Show |
intron_variant | MODIFIER | c.1972+8741G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45585849 | |||||||
chr22:45585866 | C | T | 3 | a0001c0001t0001g0059 a0001c0001t0001g0159 a0001c0001t0001g0216 |
3 | HG04204.hp1 NA19004.hp1 NA19091.hp2 |
intron_variant | MODIFIER | c.1972+8758C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45585866 | |||||||
chr22:45585871 | C | T | 2 | a0001c0001t0001g0184 a0001c0001t0001g0331 |
2 | HG03098.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.1972+8763C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45585871 | |||||||
chr22:45586019 | A | G | 126 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(123): Show |
126 | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(123): Show |
intron_variant | MODIFIER | c.1972+8911A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45586019 | |||||||
chr22:45586031 | A | AT | 251 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(248): Show |
252 | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(249): Show |
intron_variant | MODIFIER | c.1972+8925dupT | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45586031 | ||||||
chr22:45586085 | G | A | 3 | a0001c0001t0001g0089 a0001c0001t0001g0323 a0001c0001t0001g0330 |
3 | HG02572.hp2 HG02818.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.1972+8977G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45586085 | |||||||
chr22:45586103 | G | A | 6 | a0001c0001t0001g0071 a0001c0001t0003g0230 a0001c0002t0001g0269 others(3): Show |
6 | HG02280.hp2 HG02451.hp2 HG02809.hp1 others(3): Show |
intron_variant | MODIFIER | c.1972+8995G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45586103 | |||||||
chr22:45586123 | G | C | 6 | a0001c0001t0001g0064 a0001c0001t0001g0141 a0001c0001t0001g0194 others(3): Show |
6 | HG00544.hp2 HG01123.hp2 HG01928.hp2 others(3): Show |
intron_variant | MODIFIER | c.1972+9015G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45586123 | |||||||
chr22:45586226 | G | A | 1 | a0001c0002t0001g0336 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1972+9118G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45586226 | |||||||
chr22:45586257 | C | T | 1 | a0001c0012t0001g0070 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1972+9149C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45586257 | |||||||
chr22:45586258 | A | G | 21 | a0001c0001t0001g0072 a0001c0001t0001g0089 a0001c0001t0001g0184 others(18): Show |
21 | HG00642.hp2 HG02055.hp1 HG02145.hp1 others(18): Show |
intron_variant | MODIFIER | c.1972+9150A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45586258 | |||||||
chr22:45586399 | C | T | 2 | a0001c0001t0001g0071 a0001c0001t0003g0230 |
2 | HG02922.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.1972+9291C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45586399 | |||||||
chr22:45586502 | G | A | 1 | a0001c0001t0001g0068 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1972+9394G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45586502 | |||||||
chr22:45586598 | C | T | 1 | a0001c0001t0001g0135 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.1972+9490C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45586598 | |||||||
chr22:45586655 | T | C | 2 | a0001c0004t0001g0339 a0001c0012t0001g0070 |
2 | HG02145.hp1 HG02257.hp2 |
intron_variant | MODIFIER | c.1972+9547T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45586655 | |||||||
chr22:45586677 | A | G | 4 | a0001c0001t0001g0104 a0001c0001t0001g0278 a0001c0002t0001g0336 others(1): Show |
4 | HG02647.hp2 HG02717.hp2 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.1972+9569A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45586677 | |||||||
chr22:45586729 | G | C | 1 | a0001c0001t0001g0147 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.1972+9621G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45586729 | |||||||
chr22:45586785 | A | G | 1 | a0004c0007t0002g0084 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1972+9677A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45586785 | |||||||
chr22:45586795 | C | T | 1 | a0001c0001t0001g0075 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1972+9687C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45586795 | |||||||
chr22:45586796 | A | G | 1 | a0004c0007t0002g0084 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1972+9688A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45586796 | |||||||
chr22:45586903 | A | G | 40 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0020 others(37): Show |
41 | HG00408.hp1 HG00639.hp2 HG01069.hp1 others(38): Show |
intron_variant | MODIFIER | c.1972+9795A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45586903 | |||||||
chr22:45586950 | C | A | 39 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0020 others(36): Show |
40 | HG00408.hp1 HG00639.hp2 HG01069.hp1 others(37): Show |
intron_variant | MODIFIER | c.1972+9842C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45586950 | |||||||
chr22:45586986 | G | A | 1 | a0001c0001t0001g0182 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.1972+9878G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45586986 | |||||||
chr22:45586989 | C | T | 8 | a0001c0001t0002g0058 a0001c0001t0002g0094 a0001c0001t0002g0275 others(5): Show |
8 | HG02071.hp1 HG02109.hp2 HG02683.hp1 others(5): Show |
intron_variant | MODIFIER | c.1972+9881C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45586989 | |||||||
chr22:45586991 | C | T | 3 | a0001c0001t0001g0050 a0001c0001t0001g0253 a0001c0002t0001g0211 |
3 | NA18957.hp2 NA19000.hp1 NA19056.hp2 |
intron_variant | MODIFIER | c.1972+9883C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45586991 | |||||||
chr22:45587088 | C | T | 2 | a0001c0001t0001g0288 a0004c0007t0002g0084 |
2 | HG01928.hp2 HG02258.hp1 |
intron_variant | MODIFIER | c.1972+9980C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45587088 | |||||||
chr22:45587115 | G | A | 250 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(247): Show |
251 | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(248): Show |
intron_variant | MODIFIER | c.1972+10007G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45587115 | |||||||
chr22:45587117 | C | A | 250 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(247): Show |
251 | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(248): Show |
intron_variant | MODIFIER | c.1972+10009C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45587117 | |||||||
chr22:45587119 | T | C | 1 | a0001c0002t0005g0043 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1972+10011T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45587119 | |||||||
chr22:45587124 | G | A | 4 | a0001c0001t0002g0201 a0001c0001t0002g0334 a0001c0002t0002g0314 others(1): Show |
4 | HG01943.hp2 HG02896.hp1 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.1972+10016G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45587124 | |||||||
chr22:45587276 | G | GACGTCCT others(50): Show |
1 | a0001c0001t0001g0139 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.1972+10282_1972+10 others(63): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45587276 | ||||||
chr22:45587276 | GACGTCCT others(50): Show |
G | 5 | a0001c0001t0001g0104 a0001c0001t0001g0212 a0001c0001t0001g0278 others(2): Show |
5 | HG02040.hp2 HG02717.hp2 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.1972+10282_1972+10 others(63): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45587276 | ||||||
chr22:45587276 | GACGTCCT others(107): Show |
G | 251 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(248): Show |
252 | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(249): Show |
intron_variant | MODIFIER | c.1972+10225_1972+10 others(6): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45587276 | ||||||
chr22:45587390 | C | G | 1 | a0001c0001t0001g0302 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.1972+10282C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45587390 | |||||||
chr22:45587396 | C | G | 1 | a0001c0001t0001g0215 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.1972+10288C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45587396 | |||||||
chr22:45587535 | C | T | 190 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(187): Show |
191 | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(188): Show |
intron_variant | MODIFIER | c.1972+10427C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45587535 | |||||||
chr22:45587655 | G | A | 1 | a0001c0001t0001g0332 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1972+10547G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45587655 | |||||||
chr22:45587661 | G | C | 242 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(239): Show |
243 | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(240): Show |
intron_variant | MODIFIER | c.1972+10553G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45587661 | |||||||
chr22:45587823 | C | A | 12 | a0001c0001t0001g0104 a0001c0001t0001g0278 a0001c0001t0001g0309 others(9): Show |
12 | HG01106.hp1 HG02109.hp1 HG02717.hp2 others(9): Show |
intron_variant | MODIFIER | c.1972+10715C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45587823 | |||||||
chr22:45587828 | C | T | 1 | a0004c0007t0002g0084 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1972+10720C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45587828 | |||||||
chr22:45587875 | T | A | 1 | a0001c0001t0001g0036 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.1972+10767T>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45587875 | |||||||
chr22:45587914 | C | G | 1 | a0001c0001t0001g0099 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1972+10806C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45587914 | |||||||
chr22:45587960 | G | A | 2 | a0001c0001t0002g0114 a0001c0002t0002g0105 |
2 | HG03225.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.1972+10852G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45587960 | |||||||
chr22:45588021 | A | G | 139 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(136): Show |
139 | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(136): Show |
intron_variant | MODIFIER | c.1972+10913A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45588021 | |||||||
chr22:45588154 | A | C | 3 | a0001c0001t0007g0103 a0001c0005t0007g0085 a0008c0019t0007g0111 |
3 | HG02622.hp2 HG03579.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.1972+11046A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45588154 | |||||||
chr22:45588278 | T | C | 257 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(254): Show |
258 | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(255): Show |
intron_variant | MODIFIER | c.1972+11170T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45588278 | |||||||
chr22:45588287 | C | T | 12 | a0001c0001t0001g0307 a0001c0001t0001g0312 a0001c0001t0001g0322 others(9): Show |
12 | HG02055.hp1 HG02145.hp1 HG02257.hp2 others(9): Show |
intron_variant | MODIFIER | c.1972+11179C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45588287 | |||||||
chr22:45588312 | A | G | 1 | a0001c0001t0001g0142 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.1972+11204A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45588312 | |||||||
chr22:45588320 | G | A | 3 | a0001c0001t0001g0104 a0001c0001t0001g0278 a0001c0002t0001g0336 |
3 | HG02717.hp2 HG03486.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1972+11212G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45588320 | |||||||
chr22:45588335 | T | G | 140 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(137): Show |
140 | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(137): Show |
intron_variant | MODIFIER | c.1972+11227T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45588335 | |||||||
chr22:45588459 | G | A | 1 | a0001c0001t0001g0061 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.1972+11351G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45588459 | |||||||
chr22:45588467 | G | A | 1 | a0001c0001t0001g0035 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.1972+11359G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45588467 | |||||||
chr22:45588525 | G | A | 1 | a0001c0001t0001g0161 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.1972+11417G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45588525 | |||||||
chr22:45588663 | TC | T | 126 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(123): Show |
126 | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(123): Show |
intron_variant | MODIFIER | c.1972+11558delC | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45588663 | ||||||
chr22:45588759 | T | A | 3 | a0001c0001t0001g0072 a0001c0005t0001g0087 a0001c0024t0001g0191 |
3 | HG00642.hp2 HG02572.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.1973-11548T>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45588759 | |||||||
chr22:45588762 | A | C | 4 | a0001c0001t0002g0058 a0001c0001t0002g0094 a0001c0001t0002g0275 others(1): Show |
4 | HG02109.hp2 HG02683.hp1 HG02698.hp1 others(1): Show |
intron_variant | MODIFIER | c.1973-11545A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45588762 | |||||||
chr22:45588813 | C | CA | 56 | a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0001t0001g0069 others(53): Show |
56 | HG01243.hp2 HG01256.hp1 HG01433.hp2 others(53): Show |
intron_variant | MODIFIER | c.1973-11479dupA | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45588813 | ||||||
chr22:45588813 | C | CAA | 54 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0020 others(51): Show |
55 | HG00408.hp1 HG00639.hp2 HG01069.hp1 others(52): Show |
intron_variant | MODIFIER | c.1973-11480_1973-11 others(8): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45588813 | ||||||
chr22:45588813 | CA | C | 132 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(129): Show |
132 | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(129): Show |
intron_variant | MODIFIER | c.1973-11479delA | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45588813 | ||||||
chr22:45588833 | T | A | 2 | a0001c0001t0001g0071 a0001c0001t0003g0230 |
2 | HG02922.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.1973-11474T>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45588833 | |||||||
chr22:45588912 | T | C | 22 | a0001c0001t0001g0018 a0001c0001t0001g0069 a0001c0001t0001g0072 others(19): Show |
22 | HG00642.hp2 HG01243.hp2 HG01496.hp1 others(19): Show |
intron_variant | MODIFIER | c.1973-11395T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45588912 | |||||||
chr22:45589060 | GTATTTTT others(12): Show |
G | 164 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(161): Show |
165 | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(162): Show |
intron_variant | MODIFIER | c.1973-11231_1973-11 others(25): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45589060 | ||||||
chr22:45589068 | TATATATA others(25): Show |
T | 2 | a0001c0002t0001g0016 a0001c0021t0001g0325 |
2 | HG01243.hp2 HG01884.hp1 |
intron_variant | MODIFIER | c.1973-11220_1973-11 others(38): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45589068 | ||||||
chr22:45589084 | T | G | 2 | a0001c0001t0001g0184 a0001c0001t0001g0331 |
2 | HG03098.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.1973-11223T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45589084 | |||||||
chr22:45589097 | A | T | 1 | a0001c0002t0001g0283 | 1 | HG01169.hp2 | intron_variant | MODIFIER | c.1973-11210A>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45589097 | |||||||
chr22:45589138 | A | G | 8 | a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0044 others(5): Show |
8 | NA18948.hp1 NA18988.hp2 NA18995.hp2 others(5): Show |
intron_variant | MODIFIER | c.1973-11169A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45589138 | |||||||
chr22:45589230 | A | C | 120 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(117): Show |
120 | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(117): Show |
intron_variant | MODIFIER | c.1973-11077A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45589230 | |||||||
chr22:45589238 | G | A | 5 | a0001c0001t0001g0104 a0001c0001t0001g0278 a0001c0002t0001g0202 others(2): Show |
5 | HG02622.hp1 HG02647.hp2 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.1973-11069G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45589238 | |||||||
chr22:45589476 | G | A | 1 | a0001c0001t0001g0045 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.1973-10831G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45589476 | |||||||
chr22:45589491 | T | C | 1 | a0001c0001t0001g0342 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.1973-10816T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45589491 | |||||||
chr22:45589577 | C | T | 135 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(132): Show |
135 | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(132): Show |
intron_variant | MODIFIER | c.1973-10730C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45589577 | |||||||
chr22:45589621 | A | G | 135 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(132): Show |
135 | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(132): Show |
intron_variant | MODIFIER | c.1973-10686A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45589621 | |||||||
chr22:45589804 | T | A | 2 | a0001c0001t0001g0050 a0001c0001t0001g0253 |
2 | NA19000.hp1 NA19056.hp2 |
intron_variant | MODIFIER | c.1973-10503T>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45589804 | |||||||
chr22:45589809 | CCACCCTC others(9): Show |
C | 11 | a0001c0001t0001g0068 a0001c0001t0001g0309 a0001c0001t0001g0321 others(8): Show |
11 | HG01106.hp1 HG02109.hp1 HG02723.hp1 others(8): Show |
intron_variant | MODIFIER | c.1973-10472_1973-10 others(22): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45589809 | ||||||
chr22:45589833 | C | A | 1 | a0001c0001t0001g0320 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1973-10474C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45589833 | |||||||
chr22:45589853 | C | T | 6 | a0001c0001t0001g0195 a0001c0001t0001g0338 a0001c0001t0001g0340 others(3): Show |
6 | HG02280.hp1 HG02615.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.1973-10454C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45589853 | |||||||
chr22:45589922 | T | C | 1 | a0001c0001t0001g0263 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.1973-10385T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45589922 | |||||||
chr22:45589960 | A | T | 5 | a0001c0001t0001g0104 a0001c0001t0001g0278 a0001c0002t0001g0202 others(2): Show |
5 | HG02622.hp1 HG02647.hp2 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.1973-10347A>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45589960 | |||||||
chr22:45590349 | A | G | 1 | a0001c0001t0001g0243 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.1973-9958A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45590349 | |||||||
chr22:45590471 | G | A | 1 | a0001c0001t0001g0238 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.1973-9836G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45590471 | |||||||
chr22:45590615 | G | A | 2 | a0001c0001t0001g0082 a0001c0001t0001g0139 |
2 | HG03704.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.1973-9692G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45590615 | |||||||
chr22:45590633 | C | G | 1 | a0001c0001t0007g0103 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1973-9674C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45590633 | |||||||
chr22:45590656 | G | A | 22 | a0001c0001t0002g0058 a0001c0001t0002g0094 a0001c0001t0002g0201 others(19): Show |
22 | HG01496.hp1 HG01891.hp2 HG01943.hp2 others(19): Show |
intron_variant | MODIFIER | c.1973-9651G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45590656 | |||||||
chr22:45590704 | G | C | 5 | a0001c0001t0001g0104 a0001c0001t0001g0278 a0001c0002t0001g0202 others(2): Show |
5 | HG02622.hp1 HG02647.hp2 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.1973-9603G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45590704 | |||||||
chr22:45590753 | G | C | 131 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0018 others(128): Show |
132 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(129): Show |
intron_variant | MODIFIER | c.1973-9554G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45590753 | |||||||
chr22:45590757 | A | G | 131 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0018 others(128): Show |
132 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(129): Show |
intron_variant | MODIFIER | c.1973-9550A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45590757 | |||||||
chr22:45590829 | T | A | 11 | a0001c0001t0001g0307 a0001c0001t0001g0312 a0001c0001t0001g0322 others(8): Show |
11 | HG02055.hp1 HG02145.hp1 HG02257.hp2 others(8): Show |
intron_variant | MODIFIER | c.1973-9478T>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45590829 | |||||||
chr22:45590863 | C | A | 1 | a0001c0001t0001g0108 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.1973-9444C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45590863 | |||||||
chr22:45591137 | G | C | 1 | a0001c0001t0001g0302 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.1973-9170G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45591137 | |||||||
chr22:45591139 | T | C | 21 | a0001c0001t0001g0089 a0001c0001t0001g0307 a0001c0001t0001g0312 others(18): Show |
21 | HG01099.hp1 HG01109.hp2 HG02055.hp1 others(18): Show |
intron_variant | MODIFIER | c.1973-9168T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45591139 | |||||||
chr22:45591142 | A | G | 1 | a0001c0001t0001g0033 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.1973-9165A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45591142 | |||||||
chr22:45591234 | A | G | 1 | a0001c0001t0001g0091 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.1973-9073A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45591234 | |||||||
chr22:45591318 | G | A | 2 | a0001c0002t0003g0326 a0001c0002t0003g0327 |
2 | HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.1973-8989G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45591318 | |||||||
chr22:45591361 | A | AG | 113 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0018 others(110): Show |
114 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(111): Show |
intron_variant | MODIFIER | c.1973-8943dupG | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45591361 | ||||||
chr22:45591403 | C | G | 3 | a0001c0001t0001g0089 a0001c0001t0001g0323 a0001c0001t0001g0330 |
3 | HG02572.hp2 HG02818.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.1973-8904C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45591403 | |||||||
chr22:45591424 | GAAACGA | G | 114 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0018 others(111): Show |
115 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(112): Show |
intron_variant | MODIFIER | c.1973-8881_1973-887 others(10): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45591424 | ||||||
chr22:45591557 | G | A | 6 | a0001c0001t0001g0089 a0001c0001t0001g0323 a0001c0001t0001g0330 others(3): Show |
6 | HG02572.hp2 HG02622.hp2 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.1973-8750G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45591557 | |||||||
chr22:45591684 | C | T | 1 | a0001c0001t0001g0322 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1973-8623C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45591684 | |||||||
chr22:45591739 | G | A | 1 | a0001c0001t0001g0285 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.1973-8568G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45591739 | |||||||
chr22:45591770 | G | C | 5 | a0001c0001t0001g0104 a0001c0001t0001g0278 a0001c0002t0001g0202 others(2): Show |
5 | HG02622.hp1 HG02647.hp2 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.1973-8537G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45591770 | |||||||
chr22:45591773 | GGGAAGTG others(30): Show |
G | 100 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0018 others(97): Show |
101 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(98): Show |
intron_variant | MODIFIER | c.1973-8498_1973-846 others(41): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45591773 | ||||||
chr22:45591787 | GCGCCATT others(67): Show |
G | 7 | a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0048 others(4): Show |
7 | NA18948.hp1 NA18988.hp2 NA18995.hp2 others(4): Show |
intron_variant | MODIFIER | c.1973-8461_1973-838 others(78): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45591787 | ||||||
chr22:45591807 | G | A | 1 | a0001c0001t0001g0287 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.1973-8500G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45591807 | |||||||
chr22:45591809 | G | A | 2 | a0001c0001t0001g0033 a0001c0001t0001g0068 |
2 | NA19060.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1973-8498G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45591809 | |||||||
chr22:45591809 | GAGGAAGT others(30): Show |
G | 6 | a0001c0001t0003g0098 a0001c0002t0003g0110 a0001c0002t0003g0326 others(3): Show |
6 | HG02896.hp2 HG02897.hp1 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.1973-8483_1973-844 others(41): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45591809 | ||||||
chr22:45591824 | G | A | 2 | a0001c0001t0001g0033 a0001c0001t0001g0068 |
2 | NA19060.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1973-8483G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45591824 | |||||||
chr22:45591846 | A | G | 12 | a0001c0001t0001g0033 a0001c0001t0001g0068 a0001c0001t0001g0104 others(9): Show |
12 | HG01256.hp2 HG01928.hp1 HG02622.hp1 others(9): Show |
intron_variant | MODIFIER | c.1973-8461A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45591846 | |||||||
chr22:45591854 | GTCCTGCA others(66): Show |
G | 1 | a0001c0001t0001g0033 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.1973-8452_1973-838 others(77): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45591854 | |||||||
chr22:45591861 | A | G | 136 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(133): Show |
136 | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(133): Show |
intron_variant | MODIFIER | c.1973-8446A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45591861 | |||||||
chr22:45591883 | G | A | 7 | a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0048 others(4): Show |
7 | NA18948.hp1 NA18988.hp2 NA18995.hp2 others(4): Show |
intron_variant | MODIFIER | c.1973-8424G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45591883 | |||||||
chr22:45591898 | G | A | 7 | a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0048 others(4): Show |
7 | NA18948.hp1 NA18988.hp2 NA18995.hp2 others(4): Show |
intron_variant | MODIFIER | c.1973-8409G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45591898 | |||||||
chr22:45591940 | A | G | 2 | a0001c0001t0001g0069 a0001c0001t0001g0106 |
2 | HG02055.hp2 HG02965.hp2 |
intron_variant | MODIFIER | c.1973-8367A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45591940 | |||||||
chr22:45591957 | G | A | 1 | a0001c0001t0001g0068 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1973-8350G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45591957 | |||||||
chr22:45591970 | G | A | 114 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0018 others(111): Show |
115 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(112): Show |
intron_variant | MODIFIER | c.1973-8337G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45591970 | |||||||
chr22:45591971 | C | T | 1 | a0001c0001t0002g0308 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1973-8336C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45591971 | |||||||
chr22:45591994 | G | A | 114 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0018 others(111): Show |
115 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(112): Show |
intron_variant | MODIFIER | c.1973-8313G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45591994 | |||||||
chr22:45592010 | C | T | 5 | a0001c0004t0001g0316 a0001c0006t0001g0192 a0001c0006t0001g0313 others(2): Show |
5 | HG02055.hp1 HG02965.hp1 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.1973-8297C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45592010 | |||||||
chr22:45592057 | C | G | 2 | a0001c0001t0001g0018 a0001c0001t0001g0257 |
2 | HG02818.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.1973-8250C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45592057 | |||||||
chr22:45592078 | C | A | 113 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0018 others(110): Show |
114 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(111): Show |
intron_variant | MODIFIER | c.1973-8229C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45592078 | |||||||
chr22:45592096 | G | A | 1 | a0004c0007t0002g0084 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1973-8211G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45592096 | |||||||
chr22:45592107 | C | T | 1 | a0001c0001t0001g0044 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.1973-8200C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45592107 | |||||||
chr22:45592123 | G | A | 114 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0018 others(111): Show |
115 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(112): Show |
intron_variant | MODIFIER | c.1973-8184G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45592123 | |||||||
chr22:45592172 | G | A | 1 | a0001c0001t0001g0322 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1973-8135G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45592172 | |||||||
chr22:45592207 | G | A | 1 | a0001c0001t0002g0308 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1973-8100G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45592207 | |||||||
chr22:45592248 | C | T | 1 | a0001c0001t0012g0199 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1973-8059C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45592248 | |||||||
chr22:45592387 | C | T | 18 | a0001c0001t0001g0069 a0001c0001t0001g0106 a0001c0001t0001g0113 others(15): Show |
18 | HG01243.hp2 HG01496.hp1 HG01884.hp1 others(15): Show |
intron_variant | MODIFIER | c.1973-7920C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45592387 | |||||||
chr22:45592395 | C | T | 11 | a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0003g0098 others(8): Show |
11 | HG00642.hp2 HG02258.hp1 HG02572.hp1 others(8): Show |
intron_variant | MODIFIER | c.1973-7912C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45592395 | |||||||
chr22:45592487 | C | T | 125 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(122): Show |
125 | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(122): Show |
intron_variant | MODIFIER | c.1973-7820C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45592487 | |||||||
chr22:45592501 | T | C | 1 | a0001c0002t0001g0269 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1973-7806T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45592501 | |||||||
chr22:45592607 | C | T | 10 | a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0003g0098 others(7): Show |
10 | HG00642.hp2 HG02572.hp1 HG02896.hp2 others(7): Show |
intron_variant | MODIFIER | c.1973-7700C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45592607 | |||||||
chr22:45592691 | C | A | 114 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0018 others(111): Show |
115 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(112): Show |
intron_variant | MODIFIER | c.1973-7616C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45592691 | |||||||
chr22:45592732 | G | T | 128 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0018 others(125): Show |
129 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(126): Show |
intron_variant | MODIFIER | c.1973-7575G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45592732 | |||||||
chr22:45592775 | G | A | 1 | a0001c0002t0001g0269 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1973-7532G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45592775 | |||||||
chr22:45593026 | G | T | 1 | a0001c0001t0011g0060 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.1973-7281G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45593026 | |||||||
chr22:45593028 | A | T | 130 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(127): Show |
130 | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(127): Show |
intron_variant | MODIFIER | c.1973-7279A>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45593028 | |||||||
chr22:45593092 | T | A | 1 | a0001c0001t0001g0122 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.1973-7215T>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45593092 | |||||||
chr22:45593108 | T | G | 1 | a0001c0001t0003g0198 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.1973-7199T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45593108 | |||||||
chr22:45593156 | A | AC | 16 | a0001c0001t0001g0033 a0001c0001t0001g0053 a0001c0001t0001g0089 others(13): Show |
16 | HG02572.hp2 HG02622.hp2 HG02738.hp1 others(13): Show |
intron_variant | MODIFIER | c.1973-7143dupC | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45593156 | ||||||
chr22:45593192 | G | C | 114 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0018 others(111): Show |
115 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(112): Show |
intron_variant | MODIFIER | c.1973-7115G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45593192 | |||||||
chr22:45593236 | C | T | 35 | a0001c0001t0001g0069 a0001c0001t0001g0089 a0001c0001t0001g0106 others(32): Show |
35 | HG01243.hp2 HG01496.hp1 HG01884.hp1 others(32): Show |
intron_variant | MODIFIER | c.1973-7071C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45593236 | |||||||
chr22:45593356 | C | T | 125 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(122): Show |
125 | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(122): Show |
intron_variant | MODIFIER | c.1973-6951C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45593356 | |||||||
chr22:45593450 | T | G | 1 | a0001c0001t0001g0033 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.1973-6857T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45593450 | |||||||
chr22:45593536 | C | A | 1 | a0001c0002t0001g0311 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1973-6771C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45593536 | |||||||
chr22:45593537 | A | C | 1 | a0001c0002t0001g0311 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1973-6770A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45593537 | |||||||
chr22:45593538 | C | A | 1 | a0001c0002t0001g0311 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1973-6769C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45593538 | |||||||
chr22:45593560 | C | G | 114 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0018 others(111): Show |
115 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(112): Show |
intron_variant | MODIFIER | c.1973-6747C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45593560 | |||||||
chr22:45593595 | G | A | 1 | a0001c0001t0002g0096 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.1973-6712G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45593595 | |||||||
chr22:45593632 | G | A | 5 | a0001c0001t0001g0104 a0001c0001t0001g0278 a0001c0002t0001g0202 others(2): Show |
5 | HG02622.hp1 HG02647.hp2 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.1973-6675G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45593632 | |||||||
chr22:45593701 | A | G | 113 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0018 others(110): Show |
114 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(111): Show |
intron_variant | MODIFIER | c.1973-6606A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45593701 | |||||||
chr22:45593702 | C | G | 1 | a0001c0002t0001g0311 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1973-6605C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45593702 | |||||||
chr22:45593704 | C | T | 113 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0018 others(110): Show |
114 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(111): Show |
intron_variant | MODIFIER | c.1973-6603C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45593704 | |||||||
chr22:45593705 | G | T | 1 | a0001c0002t0001g0311 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1973-6602G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45593705 | |||||||
chr22:45593714 | A | G | 114 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0018 others(111): Show |
115 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(112): Show |
intron_variant | MODIFIER | c.1973-6593A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45593714 | |||||||
chr22:45593739 | A | G | 35 | a0001c0001t0001g0069 a0001c0001t0001g0089 a0001c0001t0001g0106 others(32): Show |
35 | HG01243.hp2 HG01496.hp1 HG01884.hp1 others(32): Show |
intron_variant | MODIFIER | c.1973-6568A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45593739 | |||||||
chr22:45593870 | A | G | 1 | a0001c0001t0001g0157 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.1973-6437A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45593870 | |||||||
chr22:45593943 | G | A | 1 | a0001c0001t0001g0044 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.1973-6364G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45593943 | |||||||
chr22:45594097 | CAG | C | 114 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0018 others(111): Show |
115 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(112): Show |
intron_variant | MODIFIER | c.1973-6207_1973-620 others(6): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45594097 | ||||||
chr22:45594140 | G | C | 1 | a0001c0002t0001g0224 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.1973-6167G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45594140 | |||||||
chr22:45594146 | G | GCT | 114 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0018 others(111): Show |
115 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(112): Show |
intron_variant | MODIFIER | c.1973-6157_1973-615 others(6): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45594146 | ||||||
chr22:45594159 | C | T | 59 | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0019 others(56): Show |
59 | HG00140.hp1 HG00423.hp2 HG00438.hp1 others(56): Show |
intron_variant | MODIFIER | c.1973-6148C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45594159 | |||||||
chr22:45594220 | G | A | 7 | a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0044 others(4): Show |
7 | NA18948.hp1 NA18988.hp2 NA18995.hp2 others(4): Show |
intron_variant | MODIFIER | c.1973-6087G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45594220 | |||||||
chr22:45594392 | C | G | 1 | a0001c0002t0001g0311 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1973-5915C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45594392 | |||||||
chr22:45594416 | C | T | 3 | a0001c0001t0002g0270 a0001c0001t0009g0251 a0001c0001t0009g0279 |
3 | HG02486.hp2 HG02559.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.1973-5891C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45594416 | |||||||
chr22:45594506 | C | G | 1 | a0001c0001t0001g0099 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1973-5801C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45594506 | |||||||
chr22:45594561 | T | A | 1 | a0001c0002t0001g0311 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1973-5746T>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45594561 | |||||||
chr22:45594602 | G | T | 4 | a0001c0001t0001g0018 a0001c0001t0001g0257 a0001c0001t0008g0205 others(1): Show |
4 | HG01099.hp1 HG01109.hp2 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.1973-5705G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45594602 | |||||||
chr22:45594630 | G | C | 2 | a0001c0001t0001g0014 a0001c0002t0001g0169 |
2 | HG03834.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.1973-5677G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45594630 | |||||||
chr22:45594690 | G | GTGGA | 18 | a0001c0001t0002g0058 a0001c0001t0002g0094 a0001c0001t0002g0222 others(15): Show |
18 | HG01433.hp2 HG01891.hp2 HG02071.hp1 others(15): Show |
intron_variant | MODIFIER | c.1973-5615_1973-561 others(8): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45594690 | ||||||
chr22:45594690 | G | GTGGATGG others(1): Show |
9 | a0001c0001t0001g0044 a0001c0001t0001g0184 a0001c0001t0001g0331 others(6): Show |
9 | HG01943.hp2 HG02258.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.1973-5612_1973-561 others(12): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45594690 | ||||||
chr22:45594696 | A | AGATG | 13 | a0001c0001t0001g0024 a0001c0001t0001g0069 a0001c0001t0001g0072 others(10): Show |
13 | HG00642.hp2 HG01109.hp2 HG01496.hp1 others(10): Show |
intron_variant | MODIFIER | c.1973-5579_1973-557 others(8): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45594696 | ||||||
chr22:45594696 | A | AGATGGAT others(1): Show |
16 | a0001c0001t0001g0320 a0001c0001t0002g0073 a0001c0001t0002g0114 others(13): Show |
16 | HG01099.hp1 HG02109.hp1 HG02486.hp2 others(13): Show |
intron_variant | MODIFIER | c.1973-5583_1973-557 others(12): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45594696 | ||||||
chr22:45594696 | A | AGATGGAT others(5): Show |
10 | a0001c0001t0001g0018 a0001c0001t0001g0089 a0001c0001t0001g0113 others(7): Show |
10 | HG01884.hp1 HG02559.hp2 HG02572.hp2 others(7): Show |
intron_variant | MODIFIER | c.1973-5587_1973-557 others(16): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45594696 | ||||||
chr22:45594696 | A | AGATGGAT others(9): Show |
2 | a0001c0001t0001g0309 a0001c0001t0001g0321 |
2 | HG01106.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.1973-5591_1973-557 others(20): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45594696 | ||||||
chr22:45594696 | A | G | 27 | a0001c0001t0001g0044 a0001c0001t0001g0184 a0001c0001t0001g0331 others(24): Show |
27 | HG01433.hp2 HG01891.hp2 HG01943.hp2 others(24): Show |
intron_variant | MODIFIER | c.1973-5611A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45594696 | |||||||
chr22:45594696 | AGATG | A | 7 | a0001c0001t0001g0212 a0001c0001t0001g0263 a0001c0001t0001g0292 others(4): Show |
7 | HG00558.hp2 HG02040.hp2 HG03041.hp1 others(4): Show |
intron_variant | MODIFIER | c.1973-5579_1973-557 others(8): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45594696 | ||||||
chr22:45594696 | AGATGGAT others(5): Show |
A | 4 | a0001c0002t0003g0326 a0001c0002t0003g0327 a0001c0004t0001g0339 others(1): Show |
4 | HG02145.hp1 HG02257.hp2 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.1973-5587_1973-557 others(16): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45594696 | ||||||
chr22:45594707 | T | G | 1 | a0001c0002t0001g0311 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1973-5600T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45594707 | |||||||
chr22:45594713 | G | A | 4 | a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0002t0001g0127 others(1): Show |
4 | HG00280.hp2 HG01175.hp1 HG01256.hp2 others(1): Show |
intron_variant | MODIFIER | c.1973-5594G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45594713 | |||||||
chr22:45594722 | A | G | 1 | a0001c0001t0001g0215 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.1973-5585A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45594722 | |||||||
chr22:45594728 | GGATA | G | 31 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0020 others(28): Show |
32 | HG00408.hp1 HG00639.hp2 HG01069.hp1 others(29): Show |
intron_variant | MODIFIER | c.1973-5575_1973-557 others(8): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45594728 | ||||||
chr22:45594732 | A | G | 9 | a0001c0001t0001g0044 a0001c0001t0001g0134 a0001c0001t0001g0293 others(6): Show |
9 | HG01109.hp1 HG02027.hp1 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.1973-5575A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45594732 | |||||||
chr22:45594752 | AGATG | A | 5 | a0001c0002t0001g0259 a0001c0004t0001g0316 a0001c0006t0001g0192 others(2): Show |
5 | HG02055.hp1 HG02965.hp1 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.1973-5542_1973-553 others(8): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45594752 | ||||||
chr22:45594841 | G | T | 1 | a0001c0002t0001g0311 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1973-5466G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45594841 | |||||||
chr22:45594842 | C | G | 116 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0018 others(113): Show |
117 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(114): Show |
intron_variant | MODIFIER | c.1973-5465C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45594842 | |||||||
chr22:45594854 | G | GTGGA | 110 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0020 others(107): Show |
111 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(108): Show |
intron_variant | MODIFIER | c.1973-5440_1973-543 others(8): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45594854 | ||||||
chr22:45594854 | G | GTGGATGG others(5): Show |
2 | a0001c0001t0001g0018 a0001c0001t0001g0257 |
2 | HG02818.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.1973-5448_1973-543 others(16): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45594854 | ||||||
chr22:45594871 | C | T | 115 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0018 others(112): Show |
116 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(113): Show |
intron_variant | MODIFIER | c.1973-5436C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45594871 | |||||||
chr22:45594906 | T | A | 112 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0020 others(109): Show |
113 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(110): Show |
intron_variant | MODIFIER | c.1973-5401T>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45594906 | |||||||
chr22:45594925 | T | G | 113 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0020 others(110): Show |
114 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(111): Show |
intron_variant | MODIFIER | c.1973-5382T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45594925 | |||||||
chr22:45594981 | A | G | 1 | a0001c0002t0001g0092 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.1973-5326A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45594981 | |||||||
chr22:45595021 | A | T | 109 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0018 others(106): Show |
110 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(107): Show |
intron_variant | MODIFIER | c.1973-5286A>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45595021 | |||||||
chr22:45595107 | A | G | 1 | a0001c0001t0003g0230 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.1973-5200A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45595107 | |||||||
chr22:45595331 | C | T | 8 | a0001c0001t0001g0071 a0001c0001t0003g0098 a0001c0001t0003g0230 others(5): Show |
8 | HG02896.hp2 HG02897.hp1 HG02922.hp2 others(5): Show |
intron_variant | MODIFIER | c.1973-4976C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45595331 | |||||||
chr22:45595332 | G | A | 1 | a0001c0001t0001g0307 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1973-4975G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45595332 | |||||||
chr22:45595525 | T | G | 112 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0018 others(109): Show |
113 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(110): Show |
intron_variant | MODIFIER | c.1973-4782T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45595525 | |||||||
chr22:45595588 | T | G | 1 | a0001c0002t0001g0311 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1973-4719T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45595588 | |||||||
chr22:45595657 | G | A | 1 | a0001c0002t0001g0273 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1973-4650G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45595657 | |||||||
chr22:45595665 | C | G | 1 | a0001c0001t0012g0199 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1973-4642C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45595665 | |||||||
chr22:45595735 | G | T | 14 | a0001c0001t0001g0104 a0001c0001t0001g0278 a0001c0001t0001g0309 others(11): Show |
14 | HG01106.hp1 HG02109.hp1 HG02622.hp1 others(11): Show |
intron_variant | MODIFIER | c.1973-4572G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45595735 | |||||||
chr22:45595895 | A | G | 1 | a0001c0021t0001g0325 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1973-4412A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45595895 | |||||||
chr22:45595908 | C | T | 1 | a0001c0001t0003g0303 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1973-4399C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45595908 | |||||||
chr22:45595918 | A | G | 243 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(240): Show |
244 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(241): Show |
intron_variant | MODIFIER | c.1973-4389A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45595918 | |||||||
chr22:45595930 | C | T | 2 | a0001c0001t0005g0097 a0001c0001t0005g0226 |
2 | NA18950.hp2 NA18964.hp2 |
intron_variant | MODIFIER | c.1973-4377C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45595930 | |||||||
chr22:45595979 | C | T | 14 | a0001c0001t0001g0104 a0001c0001t0001g0278 a0001c0001t0001g0309 others(11): Show |
14 | HG01106.hp1 HG02109.hp1 HG02622.hp1 others(11): Show |
intron_variant | MODIFIER | c.1973-4328C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45595979 | |||||||
chr22:45596029 | T | C | 261 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(258): Show |
262 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(259): Show |
intron_variant | MODIFIER | c.1973-4278T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45596029 | |||||||
chr22:45596040 | T | C | 2 | a0001c0002t0001g0240 a0001c0002t0001g0241 |
2 | HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.1973-4267T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45596040 | |||||||
chr22:45596059 | C | T | 72 | a0001c0001t0001g0018 a0001c0001t0001g0069 a0001c0001t0001g0071 others(69): Show |
72 | HG00642.hp2 HG01099.hp1 HG01109.hp2 others(69): Show |
intron_variant | MODIFIER | c.1973-4248C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45596059 | |||||||
chr22:45596075 | T | C | 1 | a0001c0001t0001g0168 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.1973-4232T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45596075 | |||||||
chr22:45596104 | T | C | 1 | a0001c0001t0001g0261 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.1973-4203T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45596104 | |||||||
chr22:45596130 | A | G | 1 | a0001c0001t0001g0219 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.1973-4177A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45596130 | |||||||
chr22:45596182 | T | C | 1 | a0001c0001t0001g0294 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.1973-4125T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45596182 | |||||||
chr22:45596269 | C | T | 210 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(207): Show |
211 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(208): Show |
intron_variant | MODIFIER | c.1973-4038C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45596269 | |||||||
chr22:45596318 | C | T | 2 | a0001c0001t0008g0205 a0001c0001t0008g0333 |
2 | HG01099.hp1 HG01109.hp2 |
intron_variant | MODIFIER | c.1973-3989C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45596318 | |||||||
chr22:45596337 | A | G | 123 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 others(120): Show |
123 | HG00140.hp1 HG00280.hp2 HG00408.hp2 others(120): Show |
intron_variant | MODIFIER | c.1973-3970A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45596337 | |||||||
chr22:45596438 | C | T | 9 | a0001c0001t0001g0312 a0001c0001t0001g0320 a0001c0001t0008g0205 others(6): Show |
9 | HG01099.hp1 HG01109.hp2 HG02055.hp1 others(6): Show |
intron_variant | MODIFIER | c.1973-3869C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45596438 | |||||||
chr22:45596448 | G | A | 4 | a0001c0001t0001g0312 a0001c0001t0001g0320 a0001c0001t0008g0205 others(1): Show |
4 | HG01099.hp1 HG01109.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.1973-3859G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45596448 | |||||||
chr22:45596448 | G | T | 10 | a0001c0001t0001g0072 a0001c0001t0003g0098 a0001c0002t0003g0110 others(7): Show |
10 | HG00642.hp2 HG02258.hp1 HG02572.hp1 others(7): Show |
intron_variant | MODIFIER | c.1973-3859G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45596448 | |||||||
chr22:45596544 | A | C | 116 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0018 others(113): Show |
117 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(114): Show |
intron_variant | MODIFIER | c.1973-3763A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45596544 | |||||||
chr22:45596572 | A | AT | 115 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0018 others(112): Show |
116 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(113): Show |
intron_variant | MODIFIER | c.1973-3734dupT | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45596572 | ||||||
chr22:45596603 | T | TATTATAT others(23): Show |
1 | a0001c0001t0001g0071 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1973-3703_1973-370 others(34): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45596603 | ||||||
chr22:45596605 | C | T | 113 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0020 others(110): Show |
114 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(111): Show |
intron_variant | MODIFIER | c.1973-3702C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45596605 | |||||||
chr22:45596607 | A | G | 1 | a0001c0001t0001g0285 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.1973-3700A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45596607 | |||||||
chr22:45596645 | A | G | 16 | a0001c0001t0001g0018 a0001c0001t0001g0104 a0001c0001t0001g0257 others(13): Show |
16 | HG01106.hp1 HG02109.hp1 HG02622.hp1 others(13): Show |
intron_variant | MODIFIER | c.1973-3662A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45596645 | |||||||
chr22:45596684 | TATG | T | 34 | a0001c0001t0001g0021 a0001c0001t0002g0058 a0001c0001t0002g0073 others(31): Show |
34 | HG01433.hp2 HG01496.hp1 HG01891.hp2 others(31): Show |
intron_variant | MODIFIER | c.1973-3620_1973-361 others(7): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45596684 | ||||||
chr22:45596701 | TATC | T | 113 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0020 others(110): Show |
114 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(111): Show |
intron_variant | MODIFIER | c.1973-3603_1973-360 others(7): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45596701 | ||||||
chr22:45596802 | CTT | C | 112 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0020 others(109): Show |
113 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(110): Show |
intron_variant | MODIFIER | c.1973-3504_1973-350 others(6): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45596802 | |||||||
chr22:45596822 | TATA | T | 112 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0020 others(109): Show |
113 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(110): Show |
intron_variant | MODIFIER | c.1973-3479_1973-347 others(7): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45596822 | ||||||
chr22:45596841 | T | C | 3 | a0001c0001t0001g0072 a0001c0005t0001g0087 a0001c0024t0001g0191 |
3 | HG00642.hp2 HG02572.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.1973-3466T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45596841 | |||||||
chr22:45596864 | CTTTAAAC others(2): Show |
C | 5 | a0001c0004t0001g0316 a0001c0006t0001g0192 a0001c0006t0001g0313 others(2): Show |
5 | HG02055.hp1 HG02965.hp1 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.1973-3436_1973-342 others(13): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45596864 | ||||||
chr22:45596866 | TTAAAC | T | 107 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0020 others(104): Show |
108 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(105): Show |
intron_variant | MODIFIER | c.1973-3438_1973-343 others(9): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45596866 | ||||||
chr22:45597096 | G | A | 110 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0020 others(107): Show |
111 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(108): Show |
intron_variant | MODIFIER | c.1973-3211G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45597096 | |||||||
chr22:45597135 | TG | T | 130 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 others(127): Show |
130 | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.1973-3169delG | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | 45597135 | ||||||
chr22:45597192 | A | G | 115 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0020 others(112): Show |
116 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(113): Show |
intron_variant | MODIFIER | c.1973-3115A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45597192 | |||||||
chr22:45597247 | C | T | 2 | a0001c0001t0001g0310 a0001c0002t0001g0028 |
2 | HG00280.hp1 HG01106.hp2 |
intron_variant | MODIFIER | c.1973-3060C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45597247 | |||||||
chr22:45597250 | C | T | 3 | a0001c0001t0001g0320 a0001c0001t0008g0205 a0001c0001t0008g0333 |
3 | HG01099.hp1 HG01109.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.1973-3057C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45597250 | |||||||
chr22:45597269 | G | A | 3 | a0001c0001t0001g0089 a0001c0001t0001g0323 a0001c0001t0001g0330 |
3 | HG02572.hp2 HG02818.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.1973-3038G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45597269 | |||||||
chr22:45597542 | C | T | 112 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0020 others(109): Show |
113 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(110): Show |
intron_variant | MODIFIER | c.1973-2765C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45597542 | |||||||
chr22:45597566 | G | A | 1 | a0001c0001t0001g0144 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.1973-2741G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45597566 | |||||||
chr22:45597621 | G | A | 9 | a0001c0001t0001g0072 a0001c0001t0003g0098 a0001c0002t0003g0110 others(6): Show |
9 | HG00642.hp2 HG02572.hp1 HG02896.hp2 others(6): Show |
intron_variant | MODIFIER | c.1973-2686G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45597621 | |||||||
chr22:45597668 | C | T | 1 | a0001c0024t0001g0191 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1973-2639C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45597668 | |||||||
chr22:45597669 | G | C | 112 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0020 others(109): Show |
113 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(110): Show |
intron_variant | MODIFIER | c.1973-2638G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45597669 | |||||||
chr22:45597697 | T | G | 2 | a0001c0005t0007g0085 a0008c0019t0007g0111 |
2 | HG02622.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.1973-2610T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45597697 | |||||||
chr22:45597863 | A | G | 1 | a0001c0002t0010g0260 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.1973-2444A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45597863 | |||||||
chr22:45597894 | G | C | 1 | a0001c0004t0001g0123 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.1973-2413G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45597894 | |||||||
chr22:45597978 | C | T | 112 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0020 others(109): Show |
113 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(110): Show |
intron_variant | MODIFIER | c.1973-2329C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45597978 | |||||||
chr22:45598027 | G | A | 2 | a0001c0001t0001g0072 a0001c0005t0001g0087 |
2 | HG00642.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.1973-2280G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45598027 | |||||||
chr22:45598048 | C | T | 1 | a0001c0001t0002g0094 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.1973-2259C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45598048 | |||||||
chr22:45598141 | T | G | 342 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(339): Show |
343 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(340): Show |
intron_variant | MODIFIER | c.1973-2166T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45598141 | |||||||
chr22:45598287 | T | A | 112 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0020 others(109): Show |
113 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(110): Show |
intron_variant | MODIFIER | c.1973-2020T>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45598287 | |||||||
chr22:45598309 | T | G | 113 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0020 others(110): Show |
114 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(111): Show |
intron_variant | MODIFIER | c.1973-1998T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45598309 | |||||||
chr22:45598365 | C | T | 8 | a0001c0001t0001g0018 a0001c0001t0001g0104 a0001c0001t0001g0257 others(5): Show |
8 | HG02622.hp1 HG02647.hp2 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.1973-1942C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45598365 | |||||||
chr22:45598508 | T | C | 112 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0020 others(109): Show |
113 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(110): Show |
intron_variant | MODIFIER | c.1973-1799T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45598508 | |||||||
chr22:45598584 | C | G | 11 | a0001c0001t0001g0307 a0001c0001t0001g0312 a0001c0001t0001g0322 others(8): Show |
11 | HG02055.hp1 HG02145.hp1 HG02257.hp2 others(8): Show |
intron_variant | MODIFIER | c.1973-1723C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45598584 | |||||||
chr22:45598604 | G | A | 3 | a0001c0001t0002g0270 a0001c0001t0009g0251 a0001c0001t0009g0279 |
3 | HG02486.hp2 HG02559.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.1973-1703G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45598604 | |||||||
chr22:45598615 | C | T | 3 | a0001c0001t0001g0344 a0001c0015t0001g0196 a0003c0027t0001g0005 |
3 | HG02647.hp1 HG02809.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.1973-1692C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45598615 | |||||||
chr22:45598621 | C | A | 1 | a0001c0001t0001g0142 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.1973-1686C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45598621 | |||||||
chr22:45598623 | C | T | 111 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0020 others(108): Show |
112 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(109): Show |
intron_variant | MODIFIER | c.1973-1684C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45598623 | |||||||
chr22:45598637 | T | C | 4 | a0001c0002t0001g0269 a0001c0002t0001g0273 a0001c0002t0001g0315 others(1): Show |
4 | HG02280.hp2 HG02451.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.1973-1670T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45598637 | |||||||
chr22:45598729 | T | G | 111 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0020 others(108): Show |
112 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(109): Show |
intron_variant | MODIFIER | c.1973-1578T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45598729 | |||||||
chr22:45598759 | C | G | 1 | a0001c0001t0012g0199 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1973-1548C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45598759 | |||||||
chr22:45598787 | G | A | 111 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0020 others(108): Show |
112 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(109): Show |
intron_variant | MODIFIER | c.1973-1520G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45598787 | |||||||
chr22:45598868 | G | A | 1 | a0001c0002t0001g0152 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.1973-1439G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45598868 | |||||||
chr22:45598913 | C | T | 16 | a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0044 others(13): Show |
16 | HG01069.hp1 HG02027.hp1 HG02080.hp2 others(13): Show |
intron_variant | MODIFIER | c.1973-1394C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45598913 | |||||||
chr22:45599023 | C | T | 7 | a0001c0001t0001g0069 a0001c0001t0001g0106 a0001c0001t0001g0113 others(4): Show |
7 | HG01243.hp2 HG02055.hp2 HG02897.hp2 others(4): Show |
intron_variant | MODIFIER | c.1973-1284C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45599023 | |||||||
chr22:45599042 | G | A | 1 | a0001c0001t0001g0126 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.1973-1265G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45599042 | |||||||
chr22:45599087 | T | C | 258 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(255): Show |
259 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(256): Show |
intron_variant | MODIFIER | c.1973-1220T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45599087 | |||||||
chr22:45599093 | G | A | 17 | a0001c0001t0001g0018 a0001c0001t0001g0104 a0001c0001t0001g0257 others(14): Show |
17 | HG01106.hp1 HG01884.hp1 HG02109.hp1 others(14): Show |
intron_variant | MODIFIER | c.1973-1214G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45599093 | |||||||
chr22:45599144 | C | T | 4 | a0001c0001t0001g0218 a0001c0002t0001g0039 a0001c0002t0001g0041 others(1): Show |
4 | NA18970.hp1 NA18989.hp1 NA19080.hp1 others(1): Show |
intron_variant | MODIFIER | c.1973-1163C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45599144 | |||||||
chr22:45599240 | T | G | 1 | a0001c0001t0012g0199 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1973-1067T>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45599240 | |||||||
chr22:45599339 | C | A | 7 | a0001c0001t0003g0098 a0001c0001t0003g0303 a0001c0002t0003g0110 others(4): Show |
7 | HG02723.hp2 HG02896.hp2 HG02897.hp1 others(4): Show |
intron_variant | MODIFIER | c.1973-968C>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45599339 | |||||||
chr22:45599347 | C | T | 1 | a0001c0001t0001g0042 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.1973-960C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45599347 | |||||||
chr22:45599476 | T | C | 111 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0020 others(108): Show |
112 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(109): Show |
intron_variant | MODIFIER | c.1973-831T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45599476 | |||||||
chr22:45599487 | A | G | 1 | a0001c0021t0001g0325 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1973-820A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45599487 | |||||||
chr22:45599491 | G | C | 1 | a0001c0001t0001g0320 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1973-816G>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45599491 | |||||||
chr22:45599509 | C | T | 1 | a0001c0001t0001g0001 | 2 | HG03491.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.1973-798C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45599509 | |||||||
chr22:45599560 | G | A | 1 | a0001c0001t0003g0198 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.1973-747G>A | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45599560 | |||||||
chr22:45599718 | G | T | 1 | a0001c0021t0001g0325 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1973-589G>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45599718 | |||||||
chr22:45599746 | C | T | 33 | a0001c0001t0002g0058 a0001c0001t0002g0073 a0001c0001t0002g0094 others(30): Show |
33 | HG01433.hp2 HG01496.hp1 HG01891.hp2 others(30): Show |
intron_variant | MODIFIER | c.1973-561C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45599746 | |||||||
chr22:45599758 | A | C | 1 | a0001c0001t0001g0126 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.1973-549A>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45599758 | |||||||
chr22:45599804 | C | G | 2 | a0001c0001t0001g0033 a0001c0001t0001g0044 |
2 | NA18995.hp2 NA19060.hp2 |
intron_variant | MODIFIER | c.1973-503C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45599804 | |||||||
chr22:45599865 | C | T | 1 | a0001c0001t0001g0064 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.1973-442C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45599865 | |||||||
chr22:45599912 | C | T | 112 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0020 others(109): Show |
113 | HG00408.hp1 HG00558.hp1 HG00639.hp2 others(110): Show |
intron_variant | MODIFIER | c.1973-395C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45599912 | |||||||
chr22:45599925 | A | G | 1 | a0001c0001t0001g0182 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.1973-382A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45599925 | |||||||
chr22:45599981 | T | C | 1 | a0001c0001t0009g0279 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1973-326T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45599981 | |||||||
chr22:45599988 | C | G | 32 | a0001c0001t0002g0058 a0001c0001t0002g0073 a0001c0001t0002g0094 others(29): Show |
32 | HG01433.hp2 HG01496.hp1 HG01891.hp2 others(29): Show |
intron_variant | MODIFIER | c.1973-319C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45599988 | |||||||
chr22:45600086 | T | C | 17 | a0001c0001t0001g0018 a0001c0001t0001g0104 a0001c0001t0001g0257 others(14): Show |
17 | HG01106.hp1 HG01884.hp1 HG02109.hp1 others(14): Show |
intron_variant | MODIFIER | c.1973-221T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45600086 | |||||||
chr22:45600104 | T | C | 2 | a0001c0001t0001g0246 a0001c0001t0001g0247 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.1973-203T>C | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45600104 | |||||||
chr22:45600129 | A | T | 1 | a0001c0001t0001g0099 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1973-178A>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45600129 | |||||||
chr22:45600229 | C | T | 16 | a0001c0001t0001g0018 a0001c0001t0001g0104 a0001c0001t0001g0257 others(13): Show |
16 | HG01106.hp1 HG02109.hp1 HG02622.hp1 others(13): Show |
intron_variant | MODIFIER | c.1973-78C>T | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45600229 | |||||||
chr22:45600230 | A | G | 128 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0018 others(125): Show |
129 | HG00408.hp1 HG00639.hp2 HG00642.hp2 others(126): Show |
intron_variant | MODIFIER | c.1973-77A>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45600230 | |||||||
chr22:45600253 | C | G | 1 | a0001c0001t0001g0099 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1973-54C>G | FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | chr22 | 45600253 |