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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP20DC_chr3_58737008_59055025 | 58801074 | A | AGAGAGAG others(20): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03579.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0056 a0001c0005t0001g0057 |
2 | 202 | 0.0099 | 27 | c.223 others(46): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 15/16 | chr3 | TogoVar | |||||||
CFAP298_chr21_32594354_32617377 | 32611339 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01192.hp2 HG03209.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0204 a0001c0001t0003g0018 a0001c0001t0003g0061 |
5 | 349 | 0.0143 | 27 | c.139 others(42): Show |
CFAP298 | ENSG00000159079.19 | transcript | ENST00000290155.8 | protein_coding | 1/6 | chr21 | TogoVar | |||||||
CFAP299_chr4_80330730_80968750 | 80364089 | A | ACACACAC others(20): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 20 | 0.0500 | 27 | c.242 others(44): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
CFAP299_chr4_80330730_80968750 | 80797261 | G | GACCCAGC others(20): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0026 | 1 | 96 | 0.0104 | 27 | c.334 others(46): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP410_chr21_44323944_44344390 | 44334521 | C | CCCCTCAA others(20): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01069.hp2 HG01071.hp2 others(41): Show |
a0001a0005a0009 | a0001c0001a0001c0002a0005c0007others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0026 others(21): Show |
44 | 431 | 0.1021 | 27 | c.143 others(44): Show |
CFAP410 | ENSG00000160226.16 | transcript | ENST00000339818.9 | protein_coding | 3/6 | chr21 | TogoVar | |||||||
CFAP410_chr21_44323944_44344390 | 44334522 | C | CCCCTCAA others(20): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02615.hp1 HG02976.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0029 | a0001c0002t0006g0055 a0001c0002t0006g0056 a0001c0002t0006g0058 others(1): Show |
4 | 431 | 0.0093 | 27 | c.143 others(44): Show |
CFAP410 | ENSG00000160226.16 | transcript | ENST00000339818.9 | protein_coding | 3/6 | chr21 | TogoVar | |||||||
CFAP410_chr21_44323944_44344390 | 44341477 | C | CAGAGACA others(20): Show |
upstream_gene_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0269 | 1 | 434 | 0.0023 | 27 | c.-22 others(38): Show |
CFAP410 | ENSG00000160226.16 | transcript | ENST00000339818.9 | protein_coding | 2088 | chr21 | TogoVar | |||||||
CFAP45_chr1_159867364_159905165 | 159873849 | C | CCTTCCTT others(20): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp1 others(43): Show |
a0001a0003a0012others(2): Show | a0001c0001a0001c0019a0003c0004others(3): Show | a0001c0001t0001a0001c0019t0001a0003c0004t0001others(3): Show | a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0026 others(31): Show |
46 | 201 | 0.2289 | 27 | c.135 others(44): Show |
CFAP45 | ENSG00000213085.10 | transcript | ENST00000368099.9 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132888564 | G | GCACCCCT others(20): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081 | 1 | 103 | 0.0097 | 27 | c.330 others(46): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP52_chr17_9571642_9648447 | 9631028 | A | AGAGAGAG others(20): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0293 | 1 | 169 | 0.0059 | 27 | c.117 others(46): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | chr17 | TogoVar | |||||||
CFAP52_chr17_9571642_9648447 | 9631052 | G | GAGAGAGA others(20): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0224 | 1 | 78 | 0.0128 | 27 | c.117 others(46): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP52_chr17_9571642_9648447 | 9631067 | A | AGAGAGAG others(20): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0269 | 1 | 308 | 0.0032 | 27 | c.117 others(46): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | chr17 | TogoVar | |||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 51 | 0.0196 | 27 | c.131 others(46): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAAAAAAT others(20): Show |
intron_variant | MODIFIER | HG02738.hp2 HG03491.hp1 NA20752.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0057 a0001c0001t0001g0070 a0003c0003t0001g0206 |
3 | 53 | 0.0566 | 27 | c.131 others(46): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAAAATAT others(20): Show |
intron_variant | MODIFIER | NA18522.hp2 NA18960.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0012 |
2 | 52 | 0.0385 | 27 | c.131 others(46): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP53_chr18_50222193_50271495 | 50237329 | A | AAATATAT others(20): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0007 | 1 | 51 | 0.0196 | 27 | c.131 others(46): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/7 | chr18 | TogoVar | |||||||
CFAP77_chr9_132405211_132578319 | 132438541 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 217 | 0.0046 | 27 | c.195 others(46): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP95_chr9_69815817_69911227 | 69843503 | C | CCCCCCTC others(20): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0038 | 1 | 376 | 0.0027 | 27 | c.153 others(44): Show |
CFAP95 | ENSG00000204711.9 | transcript | ENST00000377197.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP97D2_chr13_114174257_114228085 | 114176595 | A | ATGGGTGA others(20): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 HG01361.hp2 HG01993.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0013 a0001c0001t0006g0040 a0001c0001t0006g0330 others(9): Show |
15 | 398 | 0.0377 | 27 | c.-27 others(38): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 2661 | chr13 | TogoVar | |||||||
CFAP97D2_chr13_114174257_114228085 | 114225450 | A | AAGGGGAG others(20): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01071.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0074 others(9): Show |
12 | 280 | 0.0429 | 27 | c.*29 others(38): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 2366 | chr13 | TogoVar | |||||||
CFAP99_chr4_2413955_2468002 | 2435807 | C | CCAGCTAC others(20): Show |
intron_variant | MODIFIER | NA19089.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0162 | 1 | 347 | 0.0029 | 27 | c.112 others(44): Show |
CFAP99 | ENSG00000206113.12 | transcript | ENST00000635017.2 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFDP1_chr16_75288710_75438503 | 75349684 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | NA18960.hp2 NA19011.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0271 a0001c0002t0001g0055 |
2 | 122 | 0.0164 | 27 | c.651 others(46): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349686 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 | 1 | 55 | 0.0182 | 27 | c.651 others(46): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CFDP1_chr16_75288710_75438503 | 75349688 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0037 | 1 | 28 | 0.0357 | 27 | c.651 others(46): Show |
CFDP1 | ENSG00000153774.9 | transcript | ENST00000283882.4 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
CGAS_chr6_73418711_73457297 | 73453568 | C | CTTTTTTT others(20): Show |
upstream_gene_variant | MODIFIER | HG02523.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0247 | 1 | 29 | 0.0345 | 27 | c.-13 others(38): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 1272 | chr6 | TogoVar | |||||||
CGNL1_chr15_57371505_57555717 | 57394101 | G | GTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 HG02040.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0026 | a0001c0001t0011a0001c0005t0001a0001c0005t0002others(1): Show | a0001c0001t0011g0277 a0001c0001t0011g0281 a0001c0005t0001g0245 others(4): Show |
7 | 188 | 0.0372 | 27 | c.-16 others(46): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57442182 | G | GAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0047 | 1 | 17 | 0.0588 | 27 | c.169 others(44): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57442182 | G | GGAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01952.hp2 HG01993.hp1 others(1): Show |
a0001a0002 | a0001c0005a0001c0015a0002c0008 | a0001c0005t0002a0001c0015t0001a0002c0008t0017 | a0001c0005t0002g0015 a0001c0005t0002g0062 a0001c0015t0001g0017 others(1): Show |
4 | 20 | 0.2000 | 27 | c.169 others(44): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 3/18 | chr15 | TogoVar | |||||||
CGREF1_chr2_27095594_27124128 | 27116923 | C | CTCACTTC others(20): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0037 | 1 | 195 | 0.0051 | 27 | c.-12 others(44): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
CGREF1_chr2_27095594_27124128 | 27116924 | T | TCTCTCTC others(20): Show |
intron_variant | MODIFIER | HG03239.hp2 NA18955.hp1 NA18983.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 |
3 | 315 | 0.0095 | 27 | c.-12 others(44): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
CHAF1A_chr19_4397640_4448397 | 4408461 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02630.hp2 NA19004.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0002 | a0001c0001t0001g0133 a0003c0004t0002g0337 |
2 | 45 | 0.0444 | 27 | c.104 others(42): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHAF1A_chr19_4397640_4448397 | 4411644 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0048 | 1 | 11 | 0.0909 | 27 | c.960 others(44): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHAF1A_chr19_4397640_4448397 | 4427136 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 7 | 0.1429 | 27 | c.137 others(46): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132955173 | G | GTGTGTGT others(20): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 19 | 0.0526 | 27 | c.369 others(46): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
CHCHD6_chr3_126699240_126965420 | 126863011 | T | TCCTCCAC others(20): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01168.hp2 HG01993.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0183 others(1): Show |
4 | 204 | 0.0196 | 27 | c.495 others(46): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHD1_chr5_98848985_98934007 | 98911146 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 119 | 0.0084 | 27 | c.54- others(42): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 2/35 | chr5 | TogoVar | |||||||
CHD1_chr5_98848985_98934007 | 98917299 | C | CCAAAAAA others(20): Show |
intron_variant | MODIFIER | HG06807.hp1 NA19030.hp2 NA19043.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0013 | a0001c0003t0002g0064 a0001c0003t0002g0065 a0001c0003t0013g0013 others(1): Show |
5 | 105 | 0.0476 | 27 | c.53+ others(42): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 2/35 | chr5 | TogoVar | |||||||
CHD3_chr17_7883789_7917755 | 7885307 | C | CCCGCCGC others(20): Show |
upstream_gene_variant | MODIFIER | HG03239.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0043 |
2 | 101 | 0.0198 | 27 | c.-36 others(38): Show |
CHD3 | ENSG00000170004.19 | transcript | ENST00000330494.12 | protein_coding | 3481 | chr17 | TogoVar | |||||||
CHD6_chr20_41397083_41623377 | 41419554 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 27 | 0.0370 | 27 | c.612 others(44): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 31/36 | chr20 | TogoVar | |||||||
CHD6_chr20_41397083_41623377 | 41497663 | A | AACAACAG others(20): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0096 | 1 | 322 | 0.0031 | 27 | c.975 others(42): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 7/36 | chr20 | TogoVar | |||||||
CHD6_chr20_41397083_41623377 | 41504077 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02273.hp1 HG03453.hp2 |
a0001a0007 | a0001c0001a0007c0012 | a0001c0001t0002a0007c0012t0004 | a0001c0001t0002g0222 a0007c0012t0004g0309 |
2 | 122 | 0.0164 | 27 | c.853 others(44): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 5/36 | chr20 | TogoVar | |||||||
CHD7_chr8_60673740_60873028 | 60678764 | C | CGCGGCGG others(20): Show |
5_prime_UTR_variant | MODIFIER | NA18962.hp2 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0040a0001c0001t0041 | a0001c0001t0040g0128 a0001c0001t0041g0138 |
2 | 50 | 0.0400 | 27 | c.-46 others(36): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 1/38 | 62642 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHEK2_chr22_28682743_28746820 | 28698228 | T | TAAAAAAA others(20): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0366 | 1 | 103 | 0.0097 | 27 | c.100 others(46): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 9/14 | chr22 | TogoVar | |||||||
CHL1_chr3_191763_414417 | 239595 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0123 | 1 | 174 | 0.0057 | 27 | c.-17 others(46): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 1/27 | chr3 | TogoVar | |||||||
CHL1_chr3_191763_414417 | 256107 | A | AACATATT others(20): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00544.hp2 others(65): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0002c0028others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(20): Show | a0001c0001t0001g0057 a0001c0001t0001g0132 a0001c0001t0001g0144 others(65): Show |
68 | 288 | 0.2361 | 27 | c.-95 others(46): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 256110 | A | ATATTCTA others(20): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01109.hp2 HG01167.hp1 others(11): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0278 others(11): Show |
14 | 288 | 0.0486 | 27 | c.-95 others(46): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85856289 | T | TAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | HG01258.hp1 HG01952.hp1 HG02280.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 a0001c0001t0001g0086 a0001c0001t0001g0092 others(3): Show |
6 | 118 | 0.0508 | 27 | c.*83 others(38): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 4890 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85856298 | A | AAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 242 | 0.0041 | 27 | c.*83 others(38): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 4881 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85871320 | A | AAAAAAAA others(20): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0244 | 1 | 232 | 0.0043 | 27 | c.177 others(46): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 14/14 | chrX | TogoVar | |||||||
CHM_chrX_85856180_86052558 | 85913332 | A | AAAGAAAG others(20): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02602.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0196 a0001c0001t0008g0195 |
2 | 46 | 0.0435 | 27 | c.116 others(46): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 8/14 | chrX | TogoVar |