| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | 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 | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| FAT4_chr4_125309955_125497932 | 125440610 | T | TGTGAGAG others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01346.hp2 HG01515.hp1 others(6): Show |
a0001a0002a0022 | a0001c0009a0002c0001a0002c0023others(1): Show | a0001c0009t0001a0002c0001t0002a0002c0023t0002others(1): Show | a0001c0009t0001g0054a0001c0009t0001g0056a0001c0009t0001g0058others(6): Show | 9 | 320 | 0.0281 | 8 | c.720 others(27): Show |
FAT4 | ENSG00000196159.14 | transcript | ENST00000394329.9 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| FAT4_chr4_125309955_125497932 | 125440610 | T | TGTGTGAG others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02280.hp1 HG02622.hp1 others(7): Show |
a0001a0002a0008others(1): Show | a0001c0009a0002c0001a0002c0117others(4): Show | a0001c0009t0001a0002c0001t0002a0002c0117t0002others(4): Show | a0001c0009t0001g0033a0002c0001t0002g0099a0002c0001t0002g0197others(7): Show | 10 | 320 | 0.0313 | 8 | c.720 others(27): Show |
FAT4 | ENSG00000196159.14 | transcript | ENST00000394329.9 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| FAT4_chr4_125309955_125497932 | 125484002 | T | TTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(235): Show |
a0001a0002a0003others(46): Show | a0001c0002a0001c0009a0001c0011others(96): Show | a0001c0002t0001a0001c0002t0007a0001c0002t0010others(106): Show | a0001c0002t0001g0087a0001c0002t0001g0127a0001c0002t0001g0130others(233): Show | 238 | 320 | 0.7438 | 8 | c.128 others(29): Show |
FAT4 | ENSG00000196159.14 | transcript | ENST00000394329.9 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| FAT4_chr4_125309955_125497932 | 125489847 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02132.hp1 HG02896.hp1 HG03209.hp1 others(3): Show |
a0002a0004a0007others(1): Show | a0002c0041a0004c0005a0004c0017others(2): Show | a0002c0041t0002a0004c0005t0001a0004c0017t0001others(2): Show | a0002c0041t0002g0312a0002c0041t0002g0313a0004c0005t0001g0233others(3): Show | 6 | 320 | 0.0188 | 8 | c.130 others(25): Show |
FAT4 | ENSG00000196159.14 | transcript | ENST00000394329.9 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| FATE1_chrX_151711035_151728194 | 151714741 | C | CCCTTCCT others(1): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 342 | 0.0029 | 8 | c.-13 others(19): Show |
FATE1 | ENSG00000147378.11 | transcript | ENST00000370350.7 | protein_coding | 1293 | chrX | TogoVar | ||||||
| FATE1_chrX_151711035_151728194 | 151715029 | A | ATATGTAT others(1): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG01884.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0007 | 3 | 342 | 0.0088 | 8 | c.-10 others(19): Show |
FATE1 | ENSG00000147378.11 | transcript | ENST00000370350.7 | protein_coding | 1005 | chrX | TogoVar | ||||||
| FATE1_chrX_151711035_151728194 | 151718110 | G | GAGGAAGG others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01891.hp2 HG01975.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0011a0001c0001t0002g0011a0001c0001t0005g0040others(1): Show | 6 | 342 | 0.0175 | 8 | c.234 others(23): Show |
FATE1 | ENSG00000147378.11 | transcript | ENST00000370350.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| FAXC_chr6_99266168_99354674 | 99272146 | A | ATATGTGT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG01993.hp2 HG02735.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0005 | a0001c0001t0009a0001c0001t0061a0001c0001t0072others(3): Show | a0001c0001t0009g0012a0001c0001t0009g0300a0001c0001t0009g0317others(9): Show | 13 | 398 | 0.0327 | 8 | c.*90 others(19): Show |
FAXC | ENSG00000146267.12 | transcript | ENST00000389677.6 | protein_coding | 6/6 | 9017 | chr6 | TogoVar | |||||
| FAXC_chr6_99266168_99354674 | 99272146 | A | ATGTGTGT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00673.hp1 HG03098.hp1 NA18944.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0032a0001c0001t0078others(2): Show | a0001c0001t0007g0220a0001c0001t0007g0221a0001c0001t0007g0224others(13): Show | 16 | 398 | 0.0402 | 8 | c.*90 others(19): Show |
FAXC | ENSG00000146267.12 | transcript | ENST00000389677.6 | protein_coding | 6/6 | 9017 | chr6 | TogoVar | |||||
| FAXC_chr6_99266168_99354674 | 99284598 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00741.hp2 HG01167.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0012others(8): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0040others(13): Show | 17 | 398 | 0.0427 | 8 | c.941 others(25): Show |
FAXC | ENSG00000146267.12 | transcript | ENST00000389677.6 | protein_coding | 5/5 | chr6 | TogoVar | ||||||
| FAXC_chr6_99266168_99354674 | 99288847 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02615.hp1 HG02735.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0060a0001c0001t0146a0001c0001t0148 | a0001c0001t0060g0280a0001c0001t0060g0289a0001c0001t0146g0223others(1): Show | 4 | 398 | 0.0101 | 8 | c.940 others(25): Show |
FAXC | ENSG00000146267.12 | transcript | ENST00000389677.6 | protein_coding | 5/5 | chr6 | TogoVar | ||||||
| FAXC_chr6_99266168_99354674 | 99288859 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01109.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0015others(16): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0033others(20): Show | 23 | 398 | 0.0578 | 8 | c.940 others(25): Show |
FAXC | ENSG00000146267.12 | transcript | ENST00000389677.6 | protein_coding | 5/5 | chr6 | TogoVar | ||||||
| FAXC_chr6_99266168_99354674 | 99290101 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01952.hp2 HG02258.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0018a0001c0001t0024others(5): Show | a0001c0001t0012g0275a0001c0001t0018g0069a0001c0001t0024g0091others(5): Show | 8 | 398 | 0.0201 | 8 | c.940 others(25): Show |
FAXC | ENSG00000146267.12 | transcript | ENST00000389677.6 | protein_coding | 5/5 | chr6 | TogoVar | ||||||
| FAXC_chr6_99266168_99354674 | 99293665 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01361.hp2 HG03453.hp1 HG03669.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0021a0001c0001t0115others(1): Show | a0001c0001t0012g0273a0001c0001t0021g0226a0001c0001t0115g0246others(1): Show | 4 | 398 | 0.0101 | 8 | c.824 others(25): Show |
FAXC | ENSG00000146267.12 | transcript | ENST00000389677.6 | protein_coding | 4/5 | chr6 | TogoVar | ||||||
| FAXC_chr6_99266168_99354674 | 99293716 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02683.hp1 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0037a0001c0001t0038 | a0001c0001t0019g0159a0001c0001t0037g0337a0001c0001t0038g0019 | 3 | 398 | 0.0075 | 8 | c.824 others(25): Show |
FAXC | ENSG00000146267.12 | transcript | ENST00000389677.6 | protein_coding | 4/5 | chr6 | TogoVar | ||||||
| FAXC_chr6_99266168_99354674 | 99318260 | A | AAAACACA others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01099.hp1 HG01106.hp2 others(23): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(10): Show | a0001c0001t0002g0001a0001c0001t0002g0208a0001c0001t0002g0303others(21): Show | 26 | 398 | 0.0653 | 8 | c.823 others(25): Show |
FAXC | ENSG00000146267.12 | transcript | ENST00000389677.6 | protein_coding | 4/5 | chr6 | TogoVar | ||||||
| FAXC_chr6_99266168_99354674 | 99318306 | C | CACAAAAA others(1): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03669.hp1 NA18946.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0015a0001c0001t0022others(2): Show | a0001c0001t0007g0230a0001c0001t0015g0245a0001c0001t0022g0229others(2): Show | 5 | 398 | 0.0126 | 8 | c.823 others(25): Show |
FAXC | ENSG00000146267.12 | transcript | ENST00000389677.6 | protein_coding | 4/5 | chr6 | TogoVar | ||||||
| FAXC_chr6_99266168_99354674 | 99318306 | C | CACACAAA others(1): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01361.hp2 HG02976.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0021a0001c0001t0026others(2): Show | a0001c0001t0007g0220a0001c0001t0021g0226a0001c0001t0026g0239others(2): Show | 5 | 398 | 0.0126 | 8 | c.823 others(25): Show |
FAXC | ENSG00000146267.12 | transcript | ENST00000389677.6 | protein_coding | 4/5 | chr6 | TogoVar | ||||||
| FAXDC2_chr5_154813492_154855603 | 154827421 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00741.hp2 others(27): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0050others(25): Show | 30 | 310 | 0.0968 | 8 | c.366 others(25): Show |
FAXDC2 | ENSG00000170271.11 | transcript | ENST00000326080.10 | protein_coding | 5/8 | chr5 | TogoVar | ||||||
| FBLIM1_chr1_15753795_15791589 | 15787963 | A | AAAATATA others(1): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 HG02148.hp1 HG02293.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0182others(4): Show | 7 | 354 | 0.0198 | 8 | c.*33 others(19): Show |
FBLIM1 | ENSG00000162458.13 | transcript | ENST00000375766.8 | protein_coding | 1375 | chr1 | TogoVar | ||||||
| FBLIM1_chr1_15753795_15791589 | 15789664 | A | ATGTGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(54): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0021others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0010others(43): Show | 57 | 354 | 0.1610 | 8 | c.*50 others(19): Show |
FBLIM1 | ENSG00000162458.13 | transcript | ENST00000375766.8 | protein_coding | 3076 | chr1 | TogoVar | ||||||
| FBLL1_chr5_168524305_168535634 | 168524942 | G | GTATATAT others(1): Show |
upstream_gene_variant | MODIFIER | HG01255.hp1 HG02717.hp2 HG02976.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0003a0004c0004t0002 | a0001c0001t0003g0000a0004c0004t0002g0000 | 5 | 460 | 0.0109 | 8 | c.-45 others(19): Show |
FBLL1 | ENSG00000188573.8 | transcript | ENST00000338333.5 | protein_coding | 4362 | chr5 | TogoVar | ||||||
| FBLN1_chr22_45497883_45606135 | 45565717 | A | AATGGATG others(1): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01175.hp2 HG01433.hp1 others(28): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0089a0001c0001t0001g0309a0001c0001t0001g0312others(28): Show | 31 | 346 | 0.0896 | 8 | c.169 others(27): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| FBLN1_chr22_45497883_45606135 | 45594690 | G | GTGGATGG others(1): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02258.hp1 HG02896.hp1 others(6): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0019others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(3): Show | a0001c0001t0001g0044a0001c0001t0001g0184a0001c0001t0001g0331others(6): Show | 9 | 346 | 0.0260 | 8 | c.197 others(27): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| FBLN1_chr22_45497883_45606135 | 45594696 | A | AGATGGAT others(1): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02109.hp1 HG02486.hp2 others(13): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0320a0001c0001t0002g0073a0001c0001t0002g0114others(13): Show | 16 | 346 | 0.0462 | 8 | c.197 others(27): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| FBLN1_chr22_45497883_45606135 | 45602817 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 HG01943.hp2 HG02109.hp2 others(10): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0128a0001c0001t0002g0059a0001c0001t0002g0270others(10): Show | 13 | 346 | 0.0376 | 8 | c.*23 others(19): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1683 | chr22 | TogoVar | ||||||
| FBLN2_chr3_13544125_13643404 | 13612294 | C | CCTTTCTT others(1): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01993.hp2 HG02074.hp1 others(13): Show |
a0001a0002a0003others(5): Show | a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0003t0006a0001c0004t0001a0001c0005t0006others(13): Show | a0001c0003t0006g0150a0001c0004t0001g0226a0001c0005t0006g0134others(13): Show | 16 | 312 | 0.0513 | 8 | c.154 others(27): Show |
FBLN2 | ENSG00000163520.14 | transcript | ENST00000404922.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| FBLN2_chr3_13544125_13643404 | 13614576 | G | GTCCATCC others(1): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02647.hp2 HG02895.hp2 others(3): Show |
a0005a0007a0009others(1): Show | a0005c0048a0007c0031a0009c0044others(2): Show | a0005c0048t0004a0007c0031t0001a0009c0044t0010others(2): Show | a0005c0048t0004g0197a0007c0031t0001g0136a0007c0031t0001g0137others(3): Show | 6 | 312 | 0.0192 | 8 | c.172 others(25): Show |
FBLN2 | ENSG00000163520.14 | transcript | ENST00000404922.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| FBLN2_chr3_13544125_13643404 | 13614635 | T | TATCCATC others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(134): Show |
a0001a0002a0003others(14): Show | a0001c0003a0001c0004a0001c0005others(46): Show | a0001c0003t0002a0001c0003t0003a0001c0003t0006others(61): Show | a0001c0003t0002g0019a0001c0003t0003g0269a0001c0003t0006g0150others(133): Show | 137 | 312 | 0.4391 | 8 | c.172 others(25): Show |
FBLN2 | ENSG00000163520.14 | transcript | ENST00000404922.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| FBLN2_chr3_13544125_13643404 | 13614939 | T | TCCATCCA others(1): Show |
intron_variant | MODIFIER | HG01433.hp2 NA18964.hp1 NA19065.hp2 |
a0002a0003 | a0002c0001a0003c0011 | a0002c0001t0001a0003c0011t0003 | a0002c0001t0001g0176a0002c0001t0001g0177a0003c0011t0003g0174 | 3 | 312 | 0.0096 | 8 | c.172 others(25): Show |
FBLN2 | ENSG00000163520.14 | transcript | ENST00000404922.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| FBLN2_chr3_13544125_13643404 | 13617171 | C | CATCCATC others(1): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01175.hp1 HG01884.hp2 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0034a0001c0035a0001c0074others(6): Show | a0001c0034t0001a0001c0035t0002a0001c0074t0001others(8): Show | a0001c0034t0001g0001a0001c0035t0002g0044a0001c0074t0001g0297others(12): Show | 16 | 312 | 0.0513 | 8 | c.173 others(25): Show |
FBLN2 | ENSG00000163520.14 | transcript | ENST00000404922.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| FBLN2_chr3_13544125_13643404 | 13617686 | A | ACCATCCA others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01891.hp1 HG02257.hp1 others(9): Show |
a0001a0002a0004others(3): Show | a0001c0019a0002c0063a0002c0069others(6): Show | a0001c0019t0001a0002c0063t0007a0002c0069t0001others(7): Show | a0001c0019t0001g0025a0002c0063t0007g0124a0002c0069t0001g0138others(9): Show | 12 | 312 | 0.0385 | 8 | c.173 others(25): Show |
FBLN2 | ENSG00000163520.14 | transcript | ENST00000404922.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| FBLN5_chr14_91864411_91952694 | 91883645 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(114): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0031a0001c0001t0001g0041a0001c0001t0001g0042others(114): Show | 117 | 360 | 0.3250 | 8 | c.740 others(23): Show |
FBLN5 | ENSG00000140092.16 | transcript | ENST00000342058.9 | protein_coding | 7/10 | chr14 | TogoVar | ||||||
| FBLN5_chr14_91864411_91952694 | 91919386 | A | AAAGGAAG others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00741.hp2 HG01081.hp2 others(37): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0031a0001c0001t0001g0035a0001c0001t0001g0044others(37): Show | 40 | 360 | 0.1111 | 8 | c.379 others(27): Show |
FBLN5 | ENSG00000140092.16 | transcript | ENST00000342058.9 | protein_coding | 4/10 | chr14 | TogoVar | ||||||
| FBLN5_chr14_91864411_91952694 | 91919390 | A | AAAGGAAG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02280.hp2 HG02809.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086a0001c0001t0001g0109a0001c0001t0001g0142others(1): Show | 4 | 360 | 0.0111 | 8 | c.379 others(27): Show |
FBLN5 | ENSG00000140092.16 | transcript | ENST00000342058.9 | protein_coding | 4/10 | chr14 | TogoVar | ||||||
| FBLN5_chr14_91864411_91952694 | 91922314 | G | GTAAATAA others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01358.hp1 HG01496.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0050a0001c0001t0001g0054a0001c0001t0001g0055others(2): Show | 5 | 360 | 0.0139 | 8 | c.379 others(27): Show |
FBLN5 | ENSG00000140092.16 | transcript | ENST00000342058.9 | protein_coding | 4/10 | chr14 | TogoVar | ||||||
| FBLN5_chr14_91864411_91952694 | 91948293 | C | CTGTTTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 HG02015.hp1 HG02109.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0002t0008 | a0001c0001t0001g0031a0001c0001t0008g0003a0001c0001t0008g0004others(1): Show | 4 | 360 | 0.0111 | 8 | c.-10 others(19): Show |
FBLN5 | ENSG00000140092.16 | transcript | ENST00000342058.9 | protein_coding | 600 | chr14 | TogoVar | ||||||
| FBLN7_chr2_112133385_112193218 | 112142768 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00438.hp1 others(126): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0012a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0013others(113): Show | 129 | 346 | 0.3728 | 8 | c.75+ others(23): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| FBLN7_chr2_112133385_112193218 | 112160736 | A | ACGCACAC others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01257.hp1 HG01258.hp1 others(16): Show |
a0001a0004 | a0001c0001a0001c0005a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0079others(14): Show | 19 | 346 | 0.0549 | 8 | c.235 others(23): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| FBLN7_chr2_112133385_112193218 | 112160848 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG02132.hp1 NA18990.hp2 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096a0001c0001t0001g0097a0001c0001t0001g0297 | 3 | 346 | 0.0087 | 8 | c.235 others(25): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| FBN1_chr15_48403313_48650709 | 48417448 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01981.hp2 HG02027.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0019a0001c0001t0001g0217a0001c0001t0001g0279others(23): Show | 26 | 288 | 0.0903 | 8 | c.782 others(27): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | TogoVar | ||||||
| FBN1_chr15_48403313_48650709 | 48435782 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02818.hp1 NA19240.hp2 |
a0001 | a0001c0004a0001c0012a0001c0024 | a0001c0004t0010a0001c0012t0010a0001c0024t0010 | a0001c0004t0010g0012a0001c0012t0010g0016a0001c0024t0010g0195 | 3 | 288 | 0.0104 | 8 | c.649 others(27): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 53/65 | chr15 | TogoVar | ||||||
| FBN1_chr15_48403313_48650709 | 48456843 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02280.hp1 HG02451.hp2 others(10): Show |
a0001a0012 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0008a0001c0004t0004others(3): Show | a0001c0001t0001g0104a0001c0001t0001g0177a0001c0001t0001g0188others(10): Show | 13 | 288 | 0.0451 | 8 | c.529 others(23): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | TogoVar | ||||||
| FBN1_chr15_48403313_48650709 | 48542781 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00621.hp1 HG00741.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0089a0001c0001t0001g0103others(28): Show | 31 | 288 | 0.1076 | 8 | c.539 others(25): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | TogoVar | ||||||
| FBN1_chr15_48403313_48650709 | 48550962 | T | TATGAATG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG01106.hp1 others(24): Show |
a0001a0002a0008 | a0001c0002a0001c0004a0002c0009others(1): Show | a0001c0002t0003a0001c0002t0004a0001c0002t0017others(5): Show | a0001c0002t0003g0026a0001c0002t0003g0027a0001c0002t0003g0029others(24): Show | 27 | 288 | 0.0938 | 8 | c.539 others(27): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | TogoVar | ||||||
| FBN1_chr15_48403313_48650709 | 48567998 | T | TAAGAAAG others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00741.hp1 HG01106.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0009a0002c0003t0002others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0019a0001c0001t0001g0096others(16): Show | 19 | 288 | 0.0660 | 8 | c.538 others(27): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | TogoVar | ||||||
| FBN1_chr15_48403313_48650709 | 48568049 | G | GAAAGAAG others(1): Show |
intron_variant | MODIFIER | HG02135.hp1 NA18986.hp2 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184a0001c0001t0001g0254a0001c0001t0001g0269 | 3 | 288 | 0.0104 | 8 | c.538 others(27): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | TogoVar | ||||||
| FBN1_chr15_48403313_48650709 | 48575802 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02735.hp1 HG02922.hp2 HG03239.hp1 |
a0001 | a0001c0001a0001c0002a0001c0022 | a0001c0001t0002a0001c0002t0018a0001c0022t0013 | a0001c0001t0002g0078a0001c0002t0018g0253a0001c0022t0013g0010 | 3 | 288 | 0.0104 | 8 | c.538 others(27): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | TogoVar | ||||||
| FBN1_chr15_48403313_48650709 | 48623968 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02293.hp2 HG03453.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0071a0001c0001t0002g0074a0001c0001t0002g0077others(2): Show | 5 | 288 | 0.0174 | 8 | c.165 others(27): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 2/65 | chr15 | TogoVar | ||||||
| FBN1_chr15_48403313_48650709 | 48648798 | C | CTTTTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG02622.hp1 HG02965.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(5): Show | a0001c0001t0001g0019a0001c0001t0001g0182a0001c0001t0001g0191others(9): Show | 12 | 288 | 0.0417 | 8 | c.-34 others(19): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 3090 | chr15 | TogoVar |