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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FANCI_chr15_89238979_89322131 | 89279141 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03471.hp2 NA18906.hp2 |
a0001 | a0001c0010 | a0001c0010t0007 | a0001c0010t0007g0040 a0001c0010t0007g0041 a0001c0010t0007g0042 |
3 | 209 | 0.0144 | 9 | c.138 others(26): Show |
FANCI | ENSG00000140525.20 | transcript | ENST00000310775.12 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
FANCI_chr15_89238979_89322131 | 89286977 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG01168.hp2 others(9): Show |
a0001a0002a0003others(3): Show | a0001c0008a0002c0002a0003c0007others(3): Show | a0001c0008t0004a0002c0002t0002a0002c0002t0005others(4): Show | a0001c0008t0004g0087 a0001c0008t0004g0088 a0001c0008t0004g0093 others(9): Show |
12 | 20 | 0.6000 | 9 | c.182 others(28): Show |
FANCI | ENSG00000140525.20 | transcript | ENST00000310775.12 | protein_coding | 18/37 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
FANCL_chr2_58154247_58246325 | 58155488 | T | TGGGAAGT others(2): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02630.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0096 a0001c0001t0001g0097 others(3): Show |
11 | 388 | 0.0284 | 9 | c.*42 others(20): Show |
FANCL | ENSG00000115392.13 | transcript | ENST00000233741.9 | protein_coding | 3758 | chr2 | TogoVar | |||||||
FANK1_chr10_125891564_126014592 | 125919195 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01106.hp1 HG01123.hp1 others(12): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(2): Show | a0001c0001t0001g0077 a0001c0001t0001g0090 a0001c0001t0001g0155 others(12): Show |
15 | 42 | 0.3571 | 9 | c.13+ others(26): Show |
FANK1 | ENSG00000203780.12 | transcript | ENST00000368693.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
FAR1_chr11_13663668_13737346 | 13735224 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG00621.hp2 others(51): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0022 others(46): Show |
54 | 55 | 0.9818 | 9 | c.*64 others(20): Show |
FAR1 | ENSG00000197601.14 | transcript | ENST00000354817.8 | protein_coding | 2879 | chr11 | TogoVar | |||||||
FARP1_chr13_98138094_98460176 | 98312135 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01071.hp2 HG01255.hp2 others(37): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(26): Show | a0001c0001t0003g0055 a0001c0001t0004g0188 a0001c0001t0004g0197 others(37): Show |
40 | 87 | 0.4598 | 9 | c.172 others(28): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FARP1_chr13_98138094_98460176 | 98337588 | T | TGTGTGTG others(2): Show |
intron_variant | MODIFIER | HG01993.hp1 NA19004.hp1 NA19004.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0006a0001c0002t0070 | a0001c0001t0003g0109 a0001c0002t0006g0104 a0001c0002t0070g0095 |
3 | 212 | 0.0142 | 9 | c.172 others(26): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 2/26 | chr13 | TogoVar | |||||||
FARP1_chr13_98138094_98460176 | 98347537 | T | TGTCCTCG others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG01981.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0015others(13): Show | a0001c0001t0003g0162 a0001c0001t0005g0164 a0001c0001t0015g0080 others(16): Show |
19 | 216 | 0.0880 | 9 | c.276 others(26): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FARP1_chr13_98138094_98460176 | 98379198 | T | TCTATATA others(2): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01192.hp1 HG01358.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0011a0001c0001t0023others(3): Show | a0001c0001t0004g0011 a0001c0001t0011g0120 a0001c0001t0023g0003 others(3): Show |
6 | 216 | 0.0278 | 9 | c.496 others(26): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 6/26 | chr13 | TogoVar | |||||||
FARP1_chr13_98138094_98460176 | 98379214 | A | ATAATATA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01346.hp1 HG01358.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0007a0001c0002t0001others(5): Show | a0001c0001t0003g0044 a0001c0001t0007g0002 a0001c0002t0001g0087 others(6): Show |
9 | 157 | 0.0573 | 9 | c.496 others(26): Show |
FARP1 | ENSG00000152767.17 | transcript | ENST00000319562.11 | protein_coding | 6/26 | chr13 | TogoVar | |||||||
FARP2_chr2_241351285_241499841 | 241366104 | A | AAATATAT others(2): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02071.hp1 HG02074.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 others(8): Show |
11 | 73 | 0.1507 | 9 | c.-24 others(26): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FARP2_chr2_241351285_241499841 | 241378416 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00544.hp2 others(81): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0001others(6): Show | a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 others(81): Show |
84 | 170 | 0.4941 | 9 | c.183 others(26): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FARP2_chr2_241351285_241499841 | 241402881 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG02074.hp2 HG03491.hp2 NA18612.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0120 a0001c0001t0001g0284 |
3 | 354 | 0.0085 | 9 | c.184 others(24): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 2/26 | chr2 | TogoVar | |||||||
FARP2_chr2_241351285_241499841 | 241437662 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01081.hp1 HG01981.hp2 others(14): Show |
a0002a0018 | a0002c0002a0018c0018 | a0002c0002t0001a0002c0002t0006a0018c0018t0001 | a0002c0002t0001g0200 a0002c0002t0001g0258 a0002c0002t0001g0335 others(14): Show |
17 | 360 | 0.0472 | 9 | c.115 others(28): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 12/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FARP2_chr2_241351285_241499841 | 241437666 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00738.hp2 HG01993.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0206 a0002c0002t0001g0253 a0002c0002t0001g0254 others(3): Show |
6 | 313 | 0.0192 | 9 | c.115 others(28): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 12/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FARP2_chr2_241351285_241499841 | 241437670 | A | ATTTATTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG02698.hp2 others(3): Show |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0244 a0001c0006t0001g0245 a0001c0006t0001g0246 others(3): Show |
6 | 227 | 0.0264 | 9 | c.115 others(28): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 12/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FARP2_chr2_241351285_241499841 | 241487746 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02486.hp1 HG02622.hp2 others(10): Show |
a0001a0005a0012 | a0001c0001a0001c0003a0005c0014others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0007others(2): Show | a0001c0001t0001g0158 a0001c0001t0001g0330 a0001c0003t0001g0008 others(10): Show |
13 | 64 | 0.2031 | 9 | c.242 others(28): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5456730 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01517.hp1 HG01952.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0002g0103 others(7): Show |
10 | 41 | 0.2439 | 9 | c.904 others(28): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARS2_chr6_5256513_5776583 | 5694843 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01361.hp2 HG01952.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(2): Show | a0001c0001t0001g0048 a0001c0001t0001g0086 a0001c0001t0002g0114 others(6): Show |
9 | 100 | 0.0900 | 9 | c.121 others(30): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARSA_chr19_12917479_12938711 | 12917659 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00609.hp2 others(59): Show |
a0001 | a0001c0001a0001c0005a0001c0011 | a0001c0001t0001a0001c0005t0001a0001c0011t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(34): Show |
62 | 152 | 0.4079 | 9 | c.*50 others(20): Show |
FARSA | ENSG00000179115.11 | transcript | ENST00000314606.9 | protein_coding | 4819 | chr19 | TogoVar | |||||||
FASTKD1_chr2_169523508_169578865 | 169547884 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01123.hp2 HG01258.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0007 a0001c0001t0001g0194 a0001c0001t0001g0197 others(7): Show |
11 | 69 | 0.1594 | 9 | c.121 others(28): Show |
FASTKD1 | ENSG00000138399.18 | transcript | ENST00000453153.7 | protein_coding | 7/14 | chr2 | TogoVar | |||||||
FAT1_chr4_186582794_186728856 | 186610661 | A | ATTATATA others(2): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02630.hp2 HG02818.hp1 others(2): Show |
a0026a0039a0072others(1): Show | a0026c0022a0039c0040a0072c0081others(1): Show | a0026c0022t0029a0039c0040t0005a0039c0040t0053others(2): Show | a0026c0022t0029g0094 a0039c0040t0005g0023 a0039c0040t0053g0319 others(2): Show |
5 | 244 | 0.0205 | 9 | c.985 others(26): Show |
FAT1 | ENSG00000083857.15 | transcript | ENST00000441802.7 | protein_coding | 14/26 | chr4 | TogoVar | |||||||
FAT2_chr5_151499092_151596331 | 151518348 | C | CTAATAAT others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02109.hp1 others(15): Show |
a0001a0004a0008others(7): Show | a0001c0148a0004c0019a0004c0052others(11): Show | a0001c0148t0011a0004c0019t0001a0004c0019t0005others(12): Show | a0001c0148t0011g0213 a0004c0019t0001g0056 a0004c0019t0001g0057 others(15): Show |
18 | 341 | 0.0528 | 9 | c.113 others(28): Show |
FAT2 | ENSG00000086570.13 | transcript | ENST00000261800.6 | protein_coding | 19/23 | chr5 | TogoVar | |||||||
FAT3_chr11_92219818_92901473 | 92240196 | A | ACATTTTT others(2): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02698.hp2 |
a0004a0008 | a0004c0009a0008c0007 | a0004c0009t0001a0008c0007t0004 | a0004c0009t0001g0070 a0008c0007t0004g0071 |
2 | 116 | 0.0172 | 9 | c.-18 others(28): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92486130 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01169.hp2 HG01884.hp1 others(11): Show |
a0001a0002a0008others(6): Show | a0001c0002a0001c0014a0001c0036others(11): Show | a0001c0002t0080a0001c0014t0033a0001c0036t0015others(11): Show | a0001c0002t0080g0003 a0001c0014t0033g0061 a0001c0036t0015g0036 others(11): Show |
14 | 24 | 0.5833 | 9 | c.329 others(30): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92551414 | T | TTGTTTTG others(2): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03139.hp1 NA18522.hp2 others(1): Show |
a0003a0004 | a0003c0010a0003c0019a0003c0032others(1): Show | a0003c0010t0025a0003c0019t0058a0003c0032t0012others(1): Show | a0003c0010t0025g0048 a0003c0019t0058g0110 a0003c0032t0012g0109 others(1): Show |
4 | 20 | 0.2000 | 9 | c.360 others(30): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92608720 | C | CAATAATA others(2): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01891.hp2 HG02258.hp2 others(7): Show |
a0001a0006a0007others(4): Show | a0001c0006a0001c0084a0006c0004others(6): Show | a0001c0006t0028a0001c0006t0068a0001c0084t0013others(7): Show | a0001c0006t0028g0034 a0001c0006t0068g0021 a0001c0084t0013g0108 others(7): Show |
10 | 38 | 0.2632 | 9 | c.360 others(30): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92674182 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01884.hp1 |
a0001a0010 | a0001c0014a0010c0072 | a0001c0014t0033a0010c0072t0001 | a0001c0014t0033g0061 a0010c0072t0001g0078 |
2 | 41 | 0.0488 | 9 | c.360 others(30): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAXC_chr6_99266168_99354674 | 99318306 | C | CACACACA others(2): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02723.hp2 HG02809.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0042a0001c0001t0044others(2): Show | a0001c0001t0028g0098 a0001c0001t0028g0100 a0001c0001t0042g0101 others(3): Show |
7 | 304 | 0.0230 | 9 | c.823 others(26): Show |
FAXC | ENSG00000146267.12 | transcript | ENST00000389677.6 | protein_coding | 4/5 | chr6 | TogoVar | |||||||
FAXDC2_chr5_154813492_154855603 | 154825650 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG02257.hp2 others(7): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(1): Show | a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0005g0005 others(6): Show |
10 | 46 | 0.2174 | 9 | c.367 others(26): Show |
FAXDC2 | ENSG00000170271.11 | transcript | ENST00000326080.10 | protein_coding | 5/8 | chr5 | TogoVar | |||||||
FBF1_chr17_75904574_75946042 | 75905783 | C | CAAAAATT others(2): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG01069.hp2 HG01884.hp1 others(22): Show |
a0004a0006a0009others(1): Show | a0004c0004a0004c0027a0006c0012others(2): Show | a0004c0004t0001a0004c0027t0001a0006c0012t0001others(2): Show | a0004c0004t0001g0007 a0004c0004t0001g0030 a0004c0004t0001g0032 others(20): Show |
25 | 316 | 0.0791 | 9 | c.*49 others(20): Show |
FBF1 | ENSG00000188878.20 | transcript | ENST00000636174.2 | protein_coding | 3790 | chr17 | TogoVar | |||||||
FBLIM1_chr1_15753795_15791589 | 15787959 | A | ATATATAT others(2): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG06807.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0004 | a0001c0001t0001g0025 a0001c0001t0001g0154 a0001c0001t0001g0156 others(2): Show |
5 | 280 | 0.0179 | 9 | c.*32 others(20): Show |
FBLIM1 | ENSG00000162458.13 | transcript | ENST00000375766.8 | protein_coding | 1371 | chr1 | TogoVar | |||||||
FBLIM1_chr1_15753795_15791589 | 15787963 | A | AAAAAAAT others(2): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG01243.hp2 HG02080.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0014a0001c0010t0001others(2): Show | a0001c0001t0001g0159 a0001c0001t0014g0006 a0001c0010t0001g0147 others(3): Show |
7 | 35 | 0.2000 | 9 | c.*33 others(20): Show |
FBLIM1 | ENSG00000162458.13 | transcript | ENST00000375766.8 | protein_coding | 1375 | chr1 | TogoVar | |||||||
FBLIM1_chr1_15753795_15791589 | 15787963 | A | AAAAATAT others(2): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 HG01123.hp1 HG01243.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0146 others(5): Show |
9 | 37 | 0.2432 | 9 | c.*33 others(20): Show |
FBLIM1 | ENSG00000162458.13 | transcript | ENST00000375766.8 | protein_coding | 1375 | chr1 | TogoVar | |||||||
FBLIM1_chr1_15753795_15791589 | 15787963 | A | AAATATAT others(2): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG01168.hp1 HG02735.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0023 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0126 others(3): Show |
7 | 35 | 0.2000 | 9 | c.*33 others(20): Show |
FBLIM1 | ENSG00000162458.13 | transcript | ENST00000375766.8 | protein_coding | 1375 | chr1 | TogoVar | |||||||
FBLL1_chr5_168524305_168535634 | 168524977 | T | TATATATA others(2): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 HG01884.hp1 HG01943.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 others(1): Show |
9 | 439 | 0.0205 | 9 | c.-45 others(20): Show |
FBLL1 | ENSG00000188573.8 | transcript | ENST00000338333.5 | protein_coding | 4327 | chr5 | TogoVar | |||||||
FBLN1_chr22_45497883_45606135 | 45569642 | A | AAAGAAGA others(2): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01256.hp2 HG01358.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0108 others(5): Show |
9 | 72 | 0.1250 | 9 | c.169 others(28): 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(2): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG02258.hp2 HG02486.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0018 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0044 a0001c0001t0002g0096 a0001c0001t0002g0275 others(6): Show |
9 | 64 | 0.1406 | 9 | c.*23 others(20): Show |
FBLN1 | ENSG00000077942.19 | transcript | ENST00000327858.11 | protein_coding | 1683 | chr22 | TogoVar | |||||||
FBLN2_chr3_13544125_13643404 | 13559349 | C | CTTTCTTG others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(264): Show |
a0001a0002a0003others(21): Show | a0001c0003a0001c0004a0001c0005others(69): Show | a0001c0003t0002a0001c0003t0003a0001c0003t0006others(96): Show | a0001c0003t0002g0019 a0001c0003t0002g0038 a0001c0003t0002g0039 others(263): Show |
267 | 310 | 0.8613 | 9 | c.-42 others(28): Show |
FBLN2 | ENSG00000163520.14 | transcript | ENST00000404922.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
FBLN5_chr14_91864411_91952694 | 91883645 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00609.hp2 HG00621.hp1 others(32): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0040 a0001c0001t0001g0087 a0001c0001t0001g0125 others(32): Show |
35 | 133 | 0.2632 | 9 | c.740 others(24): Show |
FBLN5 | ENSG00000140092.16 | transcript | ENST00000342058.9 | protein_coding | 7/10 | chr14 | TogoVar | |||||||
FBN1_chr15_48403313_48650709 | 48568049 | G | GAAAGAAA others(2): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01257.hp2 HG01258.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(1): Show | a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 others(7): Show |
10 | 162 | 0.0617 | 9 | c.538 others(28): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 6/65 | chr15 | TogoVar | |||||||
FBN1_chr15_48403313_48650709 | 48648798 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00597.hp1 others(57): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(13): Show | a0001c0001t0001g0003 a0001c0001t0001g0108 a0001c0001t0001g0133 others(55): Show |
60 | 180 | 0.3333 | 9 | c.-34 others(20): Show |
FBN1 | ENSG00000166147.15 | transcript | ENST00000316623.10 | protein_coding | 3090 | chr15 | TogoVar | |||||||
FBN2_chr5_128252909_128543245 | 128269283 | G | GTAATAAT others(2): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03486.hp2 |
a0009 | a0009c0042a0009c0063 | a0009c0042t0012a0009c0063t0012 | a0009c0042t0012g0055 a0009c0063t0012g0095 |
2 | 191 | 0.0105 | 9 | c.796 others(28): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 62/64 | chr5 | TogoVar | |||||||
FBN2_chr5_128252909_128543245 | 128500228 | T | TCAACAAC others(2): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02683.hp2 HG03209.hp2 |
a0001a0013a0020 | a0001c0001a0013c0043a0020c0027 | a0001c0001t0002a0013c0043t0019a0020c0027t0008 | a0001c0001t0002g0081 a0013c0043t0019g0019 a0020c0027t0008g0021 |
3 | 142 | 0.0211 | 9 | c.628 others(28): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 5/64 | chr5 | TogoVar | |||||||
FBN2_chr5_128252909_128543245 | 128539757 | A | ATATAACA others(2): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01256.hp2 others(29): Show |
a0001a0002a0003others(2): Show | a0001c0009a0001c0033a0001c0035others(14): Show | a0001c0009t0002a0001c0009t0006a0001c0033t0005others(19): Show | a0001c0009t0002g0050 a0001c0009t0006g0029 a0001c0009t0006g0031 others(28): Show |
32 | 234 | 0.1368 | 9 | c.-21 others(20): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1513 | chr5 | TogoVar | |||||||
FBN2_chr5_128252909_128543245 | 128539808 | T | TCATATAT others(2): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 HG02145.hp2 |
a0001a0002 | a0001c0028a0002c0044 | a0001c0028t0002a0002c0044t0004 | a0001c0028t0002g0023 a0002c0044t0004g0054 |
2 | 223 | 0.0090 | 9 | c.-22 others(20): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1564 | chr5 | TogoVar | |||||||
FBN2_chr5_128252909_128543245 | 128539884 | T | TCATATAT others(2): Show |
upstream_gene_variant | MODIFIER | HG03654.hp1 HG04204.hp1 HG04204.hp2 |
a0001 | a0001c0001a0001c0003a0001c0050 | a0001c0001t0001a0001c0003t0001a0001c0050t0001 | a0001c0001t0001g0156 a0001c0003t0001g0138 a0001c0050t0001g0207 |
3 | 65 | 0.0462 | 9 | c.-22 others(20): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1640 | chr5 | TogoVar | |||||||
FBN2_chr5_128252909_128543245 | 128539885 | G | GATCTATC others(2): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 HG02896.hp2 |
a0002 | a0002c0010a0002c0065 | a0002c0010t0008a0002c0065t0011 | a0002c0010t0008g0084 a0002c0065t0011g0083 |
2 | 26 | 0.0769 | 9 | c.-22 others(20): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1641 | chr5 | TogoVar | |||||||
FBN2_chr5_128252909_128543245 | 128539931 | C | CATATATC others(2): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00609.hp2 others(51): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0021others(8): Show | a0001c0001t0001a0001c0001t0030a0001c0003t0001others(13): Show | a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0155 others(51): Show |
54 | 158 | 0.3418 | 9 | c.-23 others(20): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1687 | chr5 | TogoVar | |||||||
FBN2_chr5_128252909_128543245 | 128539935 | T | TATATGAT others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG01192.hp1 HG01256.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0005others(4): Show | a0001c0001t0001g0158 a0001c0003t0001g0135 a0001c0003t0005g0099 others(6): Show |
9 | 234 | 0.0385 | 9 | c.-23 others(20): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1691 | chr5 | TogoVar |