view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FASTK_chr7_151071624_151085809 | 151073289 | T | TTATTTTA others(13): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 2 | 420 | 0.0048 | 20 | c.*34 others(31): Show |
FASTK | ENSG00000164896.21 | transcript | ENST00000297532.11 | protein_coding | 3334 | chr7 | TogoVar | |||||||
FASTK_chr7_151071624_151085809 | 151081250 | C | CCCCGGGG others(13): Show |
upstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 420 | 0.0024 | 20 | c.-50 others(29): Show |
FASTK | ENSG00000164896.21 | transcript | ENST00000297532.11 | protein_coding | 442 | chr7 | TogoVar | |||||||
FAT1_chr4_186582794_186728856 | 186612213 | A | AAACTTTT others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(143): Show |
a0002a0005a0007others(47): Show | a0002c0011a0002c0018a0002c0026others(75): Show | a0002c0011t0006a0002c0011t0017a0002c0011t0035others(92): Show | a0002c0011t0006g0095 a0002c0011t0006g0096 a0002c0011t0017g0008 others(142): Show |
146 | 338 | 0.4320 | 20 | c.946 others(37): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 13/26 | chr4 | TogoVar | |||||||
FAT1_chr4_186582794_186728856 | 186645366 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0003 | a0003c0002 | a0003c0002t0021 | a0003c0002t0021g0334 | 1 | 338 | 0.0030 | 20 | c.358 others(39): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 3/26 | chr4 | TogoVar | |||||||
FAT1_chr4_186582794_186728856 | 186682526 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0038 | a0038c0046 | a0038c0046t0003 | a0038c0046t0003g0091 | 1 | 338 | 0.0030 | 20 | c.326 others(41): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 2/26 | chr4 | TogoVar | |||||||
FAT2_chr5_151499092_151596331 | 151534970 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01069.hp2 HG01175.hp1 others(6): Show |
a0001a0007a0009others(4): Show | a0001c0003a0001c0004a0007c0023others(5): Show | a0001c0003t0002a0001c0004t0001a0007c0023t0001others(5): Show | a0001c0003t0002g0329 a0001c0004t0001g0156 a0007c0023t0001g0285 others(6): Show |
9 | 398 | 0.0226 | 20 | c.919 others(37): Show |
FAT2 | ENSG00000086570.13 | transcript | ENST00000261800.6 | protein_coding | 12/23 | chr5 | TogoVar | |||||||
FAT3_chr11_92219818_92901473 | 92229492 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG03453.hp1 NA20300.hp2 |
a0004a0048 | a0004c0062a0048c0058 | a0004c0062t0059a0048c0058t0044 | a0004c0062t0059g0118 a0048c0058t0044g0082 |
2 | 118 | 0.0170 | 20 | c.-18 others(37): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92368847 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0086 | a0001c0086t0066 | a0001c0086t0066g0001 | 1 | 118 | 0.0085 | 20 | c.329 others(41): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92371371 | A | ATCTTGGG others(13): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03195.hp2 NA19240.hp2 |
a0001a0003a0038 | a0001c0084a0003c0019a0038c0085 | a0001c0084t0014a0003c0019t0058a0038c0085t0014 | a0001c0084t0014g0107 a0003c0019t0058g0110 a0038c0085t0014g0108 |
3 | 118 | 0.0254 | 20 | c.329 others(41): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92435468 | A | ATCCTTCC others(13): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02572.hp2 |
a0003a0022 | a0003c0020a0022c0024 | a0003c0020t0086a0022c0024t0010 | a0003c0020t0086g0017 a0022c0024t0010g0046 |
2 | 118 | 0.0170 | 20 | c.329 others(41): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92442111 | A | ATATATTT others(13): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0002 | a0002c0031 | a0002c0031t0007 | a0002c0031t0007g0030 | 1 | 118 | 0.0085 | 20 | c.329 others(41): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92478948 | C | CTTTCTTT others(13): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0001 | a0002c0001t0038 | a0002c0001t0038g0032 | 1 | 118 | 0.0085 | 20 | c.329 others(41): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92551414 | T | TTGTGTGT others(13): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0005 | a0005c0008 | a0005c0008t0010 | a0005c0008t0010g0067 | 1 | 118 | 0.0085 | 20 | c.360 others(41): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92553673 | G | GTTCCTTC others(13): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0003 | a0003c0032 | a0003c0032t0013 | a0003c0032t0013g0109 | 1 | 118 | 0.0085 | 20 | c.360 others(41): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92553675 | C | CCCTTCCT others(13): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02015.hp2 others(9): Show |
a0001a0002a0003others(8): Show | a0001c0006a0001c0084a0002c0001others(9): Show | a0001c0006t0029a0001c0084t0014a0002c0001t0008others(9): Show | a0001c0006t0029g0045 a0001c0084t0014g0107 a0002c0001t0008g0041 others(9): Show |
12 | 118 | 0.1017 | 20 | c.360 others(41): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92753798 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0003 | a0003c0010 | a0003c0010t0069 | a0003c0010t0069g0026 | 1 | 118 | 0.0085 | 20 | c.367 others(39): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92754627 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02683.hp1 others(3): Show |
a0009a0010a0026others(1): Show | a0009c0021a0009c0039a0009c0044others(3): Show | a0009c0021t0024a0009c0039t0030a0009c0044t0008others(3): Show | a0009c0021t0024g0101 a0009c0039t0030g0104 a0009c0044t0008g0096 others(3): Show |
6 | 118 | 0.0509 | 20 | c.367 others(39): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT4_chr4_125309955_125497932 | 125440610 | T | TGTGTGAG others(13): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0013 | a0013c0018 | a0013c0018t0002 | a0013c0018t0002g0206 | 1 | 320 | 0.0031 | 20 | c.720 others(39): Show |
FAT4 | ENSG00000196159.14 | transcript | ENST00000394329.9 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FAT4_chr4_125309955_125497932 | 125440610 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0005 | a0005c0004 | a0005c0004t0012 | a0005c0004t0012g0209 | 1 | 320 | 0.0031 | 20 | c.720 others(39): Show |
FAT4 | ENSG00000196159.14 | transcript | ENST00000394329.9 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FAT4_chr4_125309955_125497932 | 125440610 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0041 | a0002c0041t0002 | a0002c0041t0002g0313 | 1 | 320 | 0.0031 | 20 | c.720 others(39): Show |
FAT4 | ENSG00000196159.14 | transcript | ENST00000394329.9 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FAT4_chr4_125309955_125497932 | 125440610 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02717.hp2 |
a0007 | a0007c0060a0007c0061 | a0007c0060t0001a0007c0061t0001 | a0007c0060t0001g0032 a0007c0061t0001g0031 |
2 | 320 | 0.0063 | 20 | c.720 others(39): Show |
FAT4 | ENSG00000196159.14 | transcript | ENST00000394329.9 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FAXC_chr6_99266168_99354674 | 99288859 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02055.hp2 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0029 | a0001c0001t0018g0069 a0001c0001t0018g0071 a0001c0001t0029g0095 |
3 | 398 | 0.0075 | 20 | c.940 others(37): Show |
FAXC | ENSG00000146267.12 | transcript | ENST00000389677.6 | protein_coding | 5/5 | chr6 | TogoVar | |||||||
FAXDC2_chr5_154813492_154855603 | 154825650 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00735.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 others(28): Show |
35 | 310 | 0.1129 | 20 | c.367 others(37): Show |
FAXDC2 | ENSG00000170271.11 | transcript | ENST00000326080.10 | protein_coding | 5/8 | chr5 | TogoVar | |||||||
FAXDC2_chr5_154813492_154855603 | 154835883 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02148.hp1 HG02735.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0264 a0001c0001t0002g0268 a0001c0001t0002g0279 others(1): Show |
4 | 310 | 0.0129 | 20 | c.49- others(33): Show |
FAXDC2 | ENSG00000170271.11 | transcript | ENST00000326080.10 | protein_coding | 2/8 | chr5 | TogoVar | |||||||
FBLN1_chr22_45497883_45606135 | 45555248 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0116 | 1 | 346 | 0.0029 | 20 | c.169 others(39): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FBLN1_chr22_45497883_45606135 | 45602817 | C | CAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG02735.hp1 NA18994.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0048 others(2): Show |
5 | 346 | 0.0145 | 20 | c.*23 others(31): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1683 | chr22 | TogoVar | |||||||
FBLN2_chr3_13544125_13643404 | 13612294 | C | CCTTTCTT others(13): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01891.hp2 HG02015.hp1 others(18): Show |
a0001a0002a0004others(2): Show | a0001c0004a0001c0005a0001c0006others(10): Show | a0001c0004t0001a0001c0004t0005a0001c0005t0003others(13): Show | a0001c0004t0001g0034 a0001c0004t0001g0216 a0001c0004t0001g0236 others(18): Show |
21 | 312 | 0.0673 | 20 | c.154 others(39): Show |
FBLN2 | ENSG00000163520.14 | transcript | ENST00000404922.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FBLN2_chr3_13544125_13643404 | 13617138 | T | TCATCCAT others(13): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0222 | 1 | 312 | 0.0032 | 20 | c.173 others(37): 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(13): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0278 | 1 | 312 | 0.0032 | 20 | c.173 others(37): Show |
FBLN2 | ENSG00000163520.14 | transcript | ENST00000404922.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FBLN2_chr3_13544125_13643404 | 13633954 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01070.hp1 HG01071.hp2 others(35): Show |
a0001a0002a0003others(7): Show | a0001c0003a0001c0004a0001c0006others(20): Show | a0001c0003t0002a0001c0004t0001a0001c0006t0001others(23): Show | a0001c0003t0002g0039 a0001c0004t0001g0089 a0001c0006t0001g0153 others(35): Show |
38 | 312 | 0.1218 | 20 | c.321 others(39): Show |
FBLN2 | ENSG00000163520.14 | transcript | ENST00000404922.8 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FBLN7_chr2_112133385_112193218 | 112167869 | C | CGTTATGT others(13): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00438.hp1 others(33): Show |
a0001a0006a0007 | a0001c0001a0006c0008a0007c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0053 others(30): Show |
36 | 346 | 0.1041 | 20 | c.406 others(37): Show |
FBLN7 | ENSG00000144152.13 | transcript | ENST00000331203.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FBN1_chr15_48403313_48650709 | 48417448 | T | TTTCCTTC others(13): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03209.hp1 HG04228.hp2 |
a0001 | a0001c0001a0001c0006a0001c0015 | a0001c0001t0001a0001c0006t0013a0001c0015t0001 | a0001c0001t0001g0108 a0001c0006t0013g0215 a0001c0015t0001g0219 |
3 | 288 | 0.0104 | 20 | c.782 others(39): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 63/65 | chr15 | TogoVar | |||||||
FBN1_chr15_48403313_48650709 | 48456843 | C | CGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02809.hp1 HG02818.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0024others(1): Show | a0001c0002t0002a0001c0004t0010a0001c0024t0010others(1): Show | a0001c0002t0002g0125 a0001c0004t0010g0012 a0001c0024t0010g0195 others(1): Show |
4 | 288 | 0.0139 | 20 | c.529 others(36): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 43/65 | chr15 | TogoVar | |||||||
FBN1_chr15_48403313_48650709 | 48567998 | T | TAAGAAAG others(13): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02080.hp2 HG02135.hp2 others(4): Show |
a0001a0002a0006 | a0001c0001a0002c0003a0006c0014 | a0001c0001t0001a0002c0003t0005a0002c0003t0006others(1): Show | a0001c0001t0001g0230 a0002c0003t0005g0156 a0002c0003t0005g0157 others(4): Show |
7 | 288 | 0.0243 | 20 | c.538 others(39): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | TogoVar | |||||||
FBN1_chr15_48403313_48650709 | 48568049 | G | GAAAGAAA others(13): Show |
intron_variant | MODIFIER | HG03041.hp2 NA18954.hp1 NA18960.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0191 others(1): Show |
4 | 288 | 0.0139 | 20 | c.538 others(39): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | TogoVar | |||||||
FBN1_chr15_48403313_48650709 | 48568049 | G | GAAAGAAA others(13): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0216 | 1 | 288 | 0.0035 | 20 | c.538 others(39): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | TogoVar | |||||||
FBN1_chr15_48403313_48650709 | 48568049 | G | GAAAGAAA others(13): Show |
intron_variant | MODIFIER | HG02717.hp2 NA19065.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0003 | a0001c0001t0001g0263 a0001c0005t0003g0204 |
2 | 288 | 0.0069 | 20 | c.538 others(39): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | TogoVar | |||||||
FBN1_chr15_48403313_48650709 | 48568049 | G | GAAAGAAG others(13): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0214 | 1 | 288 | 0.0035 | 20 | c.538 others(39): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | TogoVar | |||||||
FBN2_chr5_128252909_128543245 | 128434394 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01361.hp1 HG02109.hp1 others(4): Show |
a0001a0003a0004others(1): Show | a0001c0003a0003c0032a0004c0005others(1): Show | a0001c0003t0001a0003c0032t0009a0004c0005t0001others(2): Show | a0001c0003t0001g0201 a0003c0032t0009g0039 a0004c0005t0001g0192 others(4): Show |
7 | 236 | 0.0297 | 20 | c.952 others(39): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | TogoVar | |||||||
FBN2_chr5_128252909_128543245 | 128434424 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | NA18906.hp2 NA18964.hp2 |
a0002a0003 | a0002c0006a0003c0015 | a0002c0006t0004a0003c0015t0008 | a0002c0006t0004g0046 a0003c0015t0008g0024 |
2 | 236 | 0.0085 | 20 | c.952 others(39): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 7/64 | chr5 | TogoVar | |||||||
FBN2_chr5_128252909_128543245 | 128539953 | T | TATCATAT others(13): Show |
upstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0011 | a0001c0011t0010 | a0001c0011t0010g0104 | 1 | 236 | 0.0042 | 20 | c.-23 others(31): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1709 | chr5 | TogoVar | |||||||
FBN3_chr19_8060402_8154592 | 8076247 | C | CATGTGTG others(13): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02572.hp2 |
a0013a0074 | a0013c0122a0074c0063 | a0013c0122t0001a0074c0063t0001 | a0013c0122t0001g0015 a0074c0063t0001g0347 |
2 | 380 | 0.0053 | 20 | c.745 others(37): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 59/63 | chr19 | TogoVar | |||||||
FBN3_chr19_8060402_8154592 | 8130639 | A | AGAAAGGA others(13): Show |
intron_variant | MODIFIER | HG01346.hp1 HG03491.hp1 NA18973.hp2 others(2): Show |
a0006a0010a0154 | a0006c0009a0006c0091a0010c0013others(1): Show | a0006c0009t0001a0006c0091t0003a0010c0013t0001others(2): Show | a0006c0009t0001g0376 a0006c0091t0003g0266 a0010c0013t0001g0123 others(2): Show |
5 | 380 | 0.0132 | 20 | c.204 others(37): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 16/63 | chr19 | TogoVar | |||||||
FBN3_chr19_8060402_8154592 | 8130659 | G | GGAAAAGA others(13): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG01109.hp1 others(15): Show |
a0005a0021a0022others(10): Show | a0005c0004a0021c0015a0022c0045others(12): Show | a0005c0004t0002a0021c0015t0001a0022c0045t0001others(12): Show | a0005c0004t0002g0101 a0005c0004t0002g0312 a0005c0004t0002g0365 others(15): Show |
18 | 380 | 0.0474 | 20 | c.204 others(37): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 16/63 | chr19 | TogoVar | |||||||
FBP2_chr9_94553720_94598824 | 94579050 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02145.hp1 HG02280.hp1 others(7): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0002 | a0001c0001t0001g0059 a0001c0001t0001g0165 a0001c0001t0001g0288 others(7): Show |
10 | 380 | 0.0263 | 20 | c.426 others(37): Show |
FBP2 | ENSG00000130957.5 | transcript | ENST00000375337.4 | protein_coding | 3/6 | chr9 | TogoVar | |||||||
FBRSL1_chr12_132485151_132590188 | 132529732 | A | ACCACCCT others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(257): Show |
a0001a0002a0003others(36): Show | a0001c0003a0001c0005a0001c0006others(69): Show | a0001c0003t0003a0001c0003t0004a0001c0003t0007others(121): Show | a0001c0003t0003g0012 a0001c0003t0003g0013 a0001c0003t0003g0014 others(256): Show |
260 | 348 | 0.7471 | 20 | c.615 others(37): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FBRSL1_chr12_132485151_132590188 | 132529747 | T | TCTCTGCC others(13): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0015 | a0015c0017 | a0015c0017t0005 | a0015c0017t0005g0335 | 1 | 348 | 0.0029 | 20 | c.615 others(37): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FBRSL1_chr12_132485151_132590188 | 132578341 | T | TCACACAC others(13): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0115 | 1 | 348 | 0.0029 | 20 | c.183 others(39): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FBRSL1_chr12_132485151_132590188 | 132578343 | T | TCACACAC others(13): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp2 others(57): Show |
a0001a0002a0003others(9): Show | a0001c0005a0002c0002a0002c0004others(14): Show | a0001c0005t0006a0002c0002t0002a0002c0002t0003others(24): Show | a0001c0005t0006g0097 a0002c0002t0002g0003 a0002c0002t0002g0026 others(57): Show |
60 | 348 | 0.1724 | 20 | c.183 others(39): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FBXL12_chr19_9805270_9824079 | 9820554 | G | GTATATAT others(13): Show |
upstream_gene_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 | 1 | 338 | 0.0030 | 20 | c.-17 others(31): Show |
FBXL12 | ENSG00000127452.9 | transcript | ENST00000247977.9 | protein_coding | 1476 | chr19 | TogoVar |