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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALG14_chr1_94969405_95077951 | 95016942 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG00673.hp1 HG01070.hp2 others(40): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(27): Show | a0001c0001t0001g0334 a0001c0001t0004g0153 a0001c0001t0004g0154 others(40): Show |
43 | 388 | 0.1108 | -8 | c.420 others(27): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 3/3 | chr1 | TogoVar | |||||||
ALG14_chr1_94969405_95077951 | 95040172 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02280.hp2 HG02451.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0043others(4): Show | a0001c0001t0001g0115 a0001c0001t0001g0276 a0001c0001t0001g0278 others(7): Show |
10 | 388 | 0.0258 | -8 | c.289 others(27): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
ALG14_chr1_94969405_95077951 | 95060129 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG02148.hp2 HG02300.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0018others(4): Show | a0001c0001t0001g0293 a0001c0001t0012g0105 a0001c0001t0018g0121 others(4): Show |
7 | 388 | 0.0180 | -8 | c.288 others(25): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
ALG1L2_chr3_130076831_130103390 | 130099980 | AACACACA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG01255.hp1 HG01433.hp1 HG02647.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0017others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0017t0001others(1): Show | a0001c0001t0001g0088 a0001c0001t0001g0136 a0002c0002t0001g0070 others(2): Show |
5 | 261 | 0.0192 | -8 | c.*17 others(19): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1591 | chr3 | TogoVar | |||||||
ALG6_chr1_63362627_63443553 | 63400299 | ATATATAT others(1): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG03195.hp2 NA20300.hp2 |
a0001 | a0001c0003 | a0001c0003t0009a0001c0003t0012 | a0001c0003t0009g0192 a0001c0003t0009g0195 a0001c0003t0012g0238 |
3 | 388 | 0.0077 | -8 | c.168 others(25): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALG6_chr1_63362627_63443553 | 63400329 | ATATATAC others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG01433.hp2 HG01496.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0050 a0001c0001t0001g0055 others(1): Show |
4 | 388 | 0.0103 | -8 | c.168 others(25): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALG6_chr1_63362627_63443553 | 63422082 | AATAAATA others(1): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02886.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0234 a0001c0001t0008g0235 a0001c0001t0008g0236 others(1): Show |
4 | 388 | 0.0103 | -8 | c.105 others(27): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALG8_chr11_78095946_78144626 | 78099115 | AATTTGGT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00597.hp2 others(97): Show |
a0001a0006a0008 | a0001c0001a0001c0003a0006c0007others(1): Show | a0001c0001t0001a0001c0003t0001a0006c0007t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 others(82): Show |
100 | 402 | 0.2488 | -8 | c.*18 others(19): Show |
ALG8 | ENSG00000159063.14 | transcript | ENST00000299626.10 | protein_coding | 1830 | chr11 | TogoVar | |||||||
ALG8_chr11_78095946_78144626 | 78143317 | AACACACA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG02723.hp2 HG03540.hp1 homoSapiens_chm13v2.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0109 a0001c0001t0001g0242 a0002c0002t0001g0202 |
3 | 402 | 0.0075 | -8 | c.-37 others(19): Show |
ALG8 | ENSG00000159063.14 | transcript | ENST00000299626.10 | protein_coding | 3692 | chr11 | TogoVar | |||||||
ALKAL1_chr8_52529037_52570430 | 52531212 | TACACACA others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG02622.hp1 HG03710.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0064 a0001c0001t0001g0067 others(2): Show |
5 | 396 | 0.0126 | -8 | c.*33 others(19): Show |
ALKAL1 | ENSG00000196711.9 | transcript | ENST00000358543.9 | protein_coding | 2824 | chr8 | TogoVar | |||||||
ALKBH1_chr14_77667404_77713023 | 77711208 | TATATATA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG01081.hp1 HG01109.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0132 others(14): Show |
19 | 360 | 0.0528 | -8 | c.-32 others(19): Show |
ALKBH1 | ENSG00000100601.10 | transcript | ENST00000216489.8 | protein_coding | 3186 | chr14 | TogoVar | |||||||
ALKBH2_chr12_109083189_109098472 | 109093546 | AGCCGGGC others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01891.hp1 HG03209.hp1 NA20300.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0003 | a0001c0001t0003g0032 a0002c0002t0003g0069 |
3 | 470 | 0.0064 | -8 | c.-45 others(17): Show |
ALKBH2 | ENSG00000189046.11 | transcript | ENST00000429722.3 | protein_coding | 75 | chr12 | TogoVar | |||||||
ALKBH4_chr7_102451238_102469863 | 102467070 | GGTGTGTG others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(131): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(49): Show |
134 | 404 | 0.3317 | -8 | c.-22 others(19): Show |
ALKBH4 | ENSG00000160993.4 | transcript | ENST00000292566.4 | protein_coding | 2208 | chr7 | TogoVar | |||||||
ALKBH4_chr7_102451238_102469863 | 102467118 | GGTGTGTG others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00741.hp2 HG01175.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0013 a0001c0001t0001g0043 a0001c0001t0001g0044 others(7): Show |
15 | 404 | 0.0371 | -8 | c.-22 others(19): Show |
ALKBH4 | ENSG00000160993.4 | transcript | ENST00000292566.4 | protein_coding | 2256 | chr7 | TogoVar | |||||||
ALKBH4_chr7_102451238_102469863 | 102467167 | GTGGGGTG others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00741.hp2 HG01175.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0013 a0001c0001t0001g0044 a0001c0001t0001g0156 others(6): Show |
14 | 404 | 0.0347 | -8 | c.-23 others(19): Show |
ALKBH4 | ENSG00000160993.4 | transcript | ENST00000292566.4 | protein_coding | 2305 | chr7 | TogoVar | |||||||
ALKBH5_chr17_18178828_18214954 | 18201743 | TTAGATAG others(1): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02135.hp1 HG03139.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0020 | a0001c0001t0001g0234 a0001c0001t0003g0011 a0001c0001t0003g0063 others(2): Show |
6 | 418 | 0.0144 | -8 | c.852 others(25): Show |
ALKBH5 | ENSG00000091542.9 | transcript | ENST00000399138.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ALKBH5_chr17_18178828_18214954 | 18201794 | AAGATAGA others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG02135.hp1 HG02698.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0023 | a0001c0001t0001g0054 a0001c0001t0001g0060 a0001c0001t0001g0234 others(10): Show |
14 | 418 | 0.0335 | -8 | c.852 others(25): Show |
ALKBH5 | ENSG00000091542.9 | transcript | ENST00000399138.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ALKBH5_chr17_18178828_18214954 | 18201846 | AGATTGAT others(1): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG01106.hp2 HG01123.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0056 a0001c0001t0003g0072 a0001c0001t0003g0077 others(5): Show |
8 | 418 | 0.0191 | -8 | c.852 others(25): Show |
ALKBH5 | ENSG00000091542.9 | transcript | ENST00000399138.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ALKBH6_chr19_36004120_36019213 | 36004866 | CTTTTTTT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG01070.hp1 HG01884.hp1 HG01891.hp2 others(22): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(3): Show |
25 | 392 | 0.0638 | -8 | c.*44 others(19): Show |
ALKBH6 | ENSG00000239382.11 | transcript | ENST00000378875.8 | protein_coding | 4253 | chr19 | TogoVar | |||||||
ALKBH8_chr11_107497727_107570735 | 107530600 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01123.hp2 HG01934.hp1 HG02602.hp1 others(16): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0007a0001c0003t0013 | a0001c0001t0001g0025 a0001c0001t0001g0048 a0001c0001t0001g0133 others(15): Show |
19 | 400 | 0.0475 | -8 | c.878 others(25): Show |
ALKBH8 | ENSG00000137760.15 | transcript | ENST00000428149.7 | protein_coding | 8/11 | chr11 | TogoVar | |||||||
ALKBH8_chr11_107497727_107570735 | 107544815 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01109.hp2 HG02027.hp2 others(29): Show |
a0001a0003a0008 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(7): Show | a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0033 others(22): Show |
32 | 400 | 0.0800 | -8 | c.771 others(25): Show |
ALKBH8 | ENSG00000137760.15 | transcript | ENST00000428149.7 | protein_coding | 7/11 | chr11 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29217129 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG02622.hp1 HG02895.hp2 others(8): Show |
a0003a0004 | a0003c0010a0003c0026a0003c0034others(4): Show | a0003c0010t0006a0003c0026t0002a0003c0034t0002others(4): Show | a0003c0010t0006g0001 a0003c0010t0006g0002 a0003c0026t0002g0015 others(8): Show |
11 | 80 | 0.1375 | -8 | c.364 others(27): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 23/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29253844 | TTAGATAG others(1): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG02055.hp2 HG02145.hp2 others(7): Show |
a0001a0003 | a0001c0004a0001c0006a0001c0022others(6): Show | a0001c0004t0001a0001c0006t0007a0001c0022t0001others(6): Show | a0001c0004t0001g0037 a0001c0006t0007g0056 a0001c0022t0001g0007 others(7): Show |
10 | 80 | 0.1250 | -8 | c.204 others(27): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 11/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29333107 | GGTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG02622.hp1 others(2): Show |
a0001a0002a0003 | a0001c0027a0001c0035a0001c0039others(2): Show | a0001c0027t0001a0001c0035t0001a0001c0039t0013others(2): Show | a0001c0027t0001g0013 a0001c0035t0001g0068 a0001c0039t0013g0079 others(2): Show |
5 | 80 | 0.0625 | -8 | c.128 others(27): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 5/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29439684 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(43): Show |
a0001a0002a0003others(4): Show | a0001c0004a0001c0006a0001c0020others(33): Show | a0001c0004t0001a0001c0006t0001a0001c0006t0007others(34): Show | a0001c0004t0001g0021 a0001c0006t0001g0026 a0001c0006t0007g0056 others(43): Show |
46 | 80 | 0.5750 | -8 | c.115 others(29): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29444366 | CCCCGTGG others(1): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 HG02970.hp1 others(1): Show |
a0001a0005a0008 | a0001c0004a0001c0025a0005c0013others(1): Show | a0001c0004t0001a0001c0025t0011a0005c0013t0004others(1): Show | a0001c0004t0001g0037 a0001c0025t0011g0074 a0005c0013t0004g0020 others(1): Show |
4 | 80 | 0.0500 | -8 | c.115 others(29): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29523858 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00738.hp1 others(32): Show |
a0001a0002a0003others(3): Show | a0001c0004a0001c0006a0001c0009others(25): Show | a0001c0004t0008a0001c0006t0001a0001c0006t0007others(26): Show | a0001c0004t0008g0003 a0001c0006t0001g0026 a0001c0006t0007g0056 others(32): Show |
35 | 80 | 0.4375 | -8 | c.115 others(27): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29705274 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp2 HG02922.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0025a0002c0008a0003c0005others(2): Show | a0001c0025t0011a0002c0008t0001a0003c0005t0002others(2): Show | a0001c0025t0011g0074 a0002c0008t0001g0044 a0003c0005t0002g0045 others(2): Show |
5 | 80 | 0.0625 | -8 | c.788 others(27): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 2/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29706975 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02895.hp2 HG02897.hp1 others(1): Show |
a0001a0002a0003 | a0001c0009a0002c0008a0003c0010 | a0001c0009t0005a0002c0008t0001a0003c0010t0006 | a0001c0009t0005g0054 a0002c0008t0001g0049 a0003c0010t0006g0001 others(1): Show |
4 | 80 | 0.0500 | -8 | c.787 others(27): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 2/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29716994 | TCCAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02572.hp1 HG02970.hp1 others(1): Show |
a0002a0005a0008 | a0002c0011a0002c0052a0005c0013others(1): Show | a0002c0011t0001a0002c0052t0001a0005c0013t0004others(1): Show | a0002c0011t0001g0042 a0002c0052t0001g0017 a0005c0013t0004g0020 others(1): Show |
4 | 80 | 0.0500 | -8 | c.787 others(23): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 2/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29749747 | TAGCCGAA others(1): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02895.hp2 HG02897.hp1 others(2): Show |
a0001a0002a0003 | a0001c0006a0002c0028a0002c0047others(1): Show | a0001c0006t0007a0002c0028t0001a0002c0047t0001others(1): Show | a0001c0006t0007g0056 a0002c0028t0001g0014 a0002c0047t0001g0055 others(2): Show |
5 | 80 | 0.0625 | -8 | c.668 others(27): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29750630 | GGGAAGGA others(1): Show |
G | intron_variant | MODIFIER | HG01433.hp2 HG02109.hp2 HG02258.hp2 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0009a0002c0008others(6): Show | a0001c0004t0001a0001c0004t0008a0001c0009t0005others(7): Show | a0001c0004t0001g0037 a0001c0004t0008g0003 a0001c0009t0005g0054 others(8): Show |
11 | 80 | 0.1375 | -8 | c.668 others(27): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29776225 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp2 HG01074.hp1 others(32): Show |
a0001a0002a0003others(5): Show | a0001c0004a0001c0006a0001c0009others(25): Show | a0001c0004t0001a0001c0004t0008a0001c0006t0001others(26): Show | a0001c0004t0001g0021 a0001c0004t0008g0003 a0001c0006t0001g0026 others(32): Show |
35 | 80 | 0.4375 | -8 | c.668 others(27): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29785952 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp2 HG02647.hp2 |
a0001a0003 | a0001c0020a0003c0024a0003c0041 | a0001c0020t0005a0003c0024t0009a0003c0041t0002 | a0001c0020t0005g0005 a0003c0024t0009g0075 a0003c0041t0002g0046 |
3 | 80 | 0.0375 | -8 | c.668 others(27): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29799506 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01123.hp2 HG02055.hp1 others(12): Show |
a0001a0002a0003others(3): Show | a0001c0004a0001c0006a0001c0017others(12): Show | a0001c0004t0001a0001c0006t0001a0001c0017t0001others(12): Show | a0001c0004t0001g0021 a0001c0006t0001g0026 a0001c0017t0001g0012 others(12): Show |
15 | 80 | 0.1875 | -8 | c.668 others(27): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29830936 | GAAGAAGA others(1): Show |
G | intron_variant | MODIFIER | HG03195.hp2 NA18906.hp2 NA19043.hp1 |
a0001 | a0001c0004a0001c0040 | a0001c0004t0001a0001c0040t0001 | a0001c0004t0001g0021 a0001c0004t0001g0037 a0001c0040t0001g0022 |
3 | 80 | 0.0375 | -8 | c.667 others(27): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29844859 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01074.hp2 others(21): Show |
a0001a0002a0003others(3): Show | a0001c0009a0001c0017a0001c0020others(19): Show | a0001c0009t0005a0001c0017t0001a0001c0020t0005others(19): Show | a0001c0009t0005g0018 a0001c0009t0005g0054 a0001c0017t0001g0012 others(21): Show |
24 | 80 | 0.3000 | -8 | c.667 others(27): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29852832 | TTCTCTCT others(1): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG01074.hp2 HG01106.hp1 others(22): Show |
a0001a0002a0003others(3): Show | a0001c0006a0001c0009a0001c0022others(19): Show | a0001c0006t0007a0001c0009t0005a0001c0022t0001others(19): Show | a0001c0006t0007g0056 a0001c0009t0005g0018 a0001c0009t0005g0054 others(22): Show |
25 | 80 | 0.3125 | -8 | c.667 others(27): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29876678 | GATGGTGA others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp2 HG01123.hp2 others(5): Show |
a0001a0002a0003 | a0001c0006a0001c0035a0001c0058others(5): Show | a0001c0006t0001a0001c0035t0001a0001c0058t0001others(5): Show | a0001c0006t0001g0026 a0001c0035t0001g0068 a0001c0058t0001g0024 others(5): Show |
8 | 80 | 0.1000 | -8 | c.667 others(27): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29889695 | CAGAGAGA others(1): Show |
C | intron_variant | MODIFIER | HG02071.hp2 HG02109.hp1 HG02145.hp2 others(2): Show |
a0001a0002a0003 | a0001c0022a0001c0048a0002c0008others(2): Show | a0001c0022t0001a0001c0048t0001a0002c0008t0001others(2): Show | a0001c0022t0001g0007 a0001c0048t0001g0047 a0002c0008t0001g0044 others(2): Show |
5 | 80 | 0.0625 | -8 | c.667 others(27): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29894845 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG02895.hp1 NA19240.hp1 |
a0001a0002a0007 | a0001c0039a0002c0055a0007c0044 | a0001c0039t0013a0002c0055t0001a0007c0044t0012 | a0001c0039t0013g0079 a0002c0055t0001g0031 a0007c0044t0012g0077 |
3 | 80 | 0.0375 | -8 | c.667 others(27): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29900995 | GAGCAAGC others(1): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG01123.hp2 HG03225.hp2 |
a0001a0004 | a0001c0006a0001c0058a0004c0002 | a0001c0006t0001a0001c0058t0001a0004c0002t0003 | a0001c0006t0001g0026 a0001c0058t0001g0024 a0004c0002t0003g0025 |
3 | 80 | 0.0375 | -8 | c.667 others(27): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29909480 | CAGAGAGA others(1): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02451.hp1 HG02572.hp2 others(2): Show |
a0002a0003a0004others(1): Show | a0002c0008a0002c0052a0003c0005others(2): Show | a0002c0008t0001a0002c0052t0001a0003c0005t0002others(2): Show | a0002c0008t0001g0049 a0002c0052t0001g0017 a0003c0005t0002g0048 others(2): Show |
5 | 80 | 0.0625 | -8 | c.667 others(27): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29909512 | GAGAGAGA others(1): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG02572.hp1 HG02970.hp1 others(3): Show |
a0001a0005a0008 | a0001c0004a0001c0009a0001c0040others(3): Show | a0001c0004t0001a0001c0009t0005a0001c0040t0001others(3): Show | a0001c0004t0001g0021 a0001c0009t0005g0018 a0001c0040t0001g0022 others(3): Show |
6 | 80 | 0.0750 | -8 | c.667 others(27): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALLC_chr2_3653200_3707671 | 3654230 | TCCAAGAG others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01123.hp2 HG01884.hp1 HG02055.hp1 others(12): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0005others(5): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(6): Show | a0001c0001t0001g0015 a0001c0001t0003g0255 a0001c0001t0003g0258 others(12): Show |
15 | 274 | 0.0547 | -8 | c.-41 others(19): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 3969 | chr2 | TogoVar | |||||||
ALLC_chr2_3653200_3707671 | 3697617 | GTCTGTCT others(1): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00642.hp1 others(20): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0002c0002t0002a0003c0003t0001others(1): Show | a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0106 others(17): Show |
23 | 274 | 0.0839 | -8 | c.850 others(23): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73404899 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
a0006a0026 | a0006c0007a0006c0010a0026c0057 | a0006c0007t0001a0006c0010t0001a0026c0057t0001 | a0006c0007t0001g0098 a0006c0007t0001g0099 a0006c0007t0001g0100 others(9): Show |
12 | 248 | 0.0484 | -8 | c.325 others(25): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73515768 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01109.hp1 NA18522.hp2 NA19030.hp2 |
a0002a0024 | a0002c0004a0024c0030 | a0002c0004t0001a0024c0030t0001 | a0002c0004t0001g0051 a0002c0004t0001g0052 a0024c0030t0001g0227 |
3 | 248 | 0.0121 | -8 | c.954 others(27): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73518632 | ATTTTGAC others(1): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02717.hp2 HG03540.hp1 others(1): Show |
a0017a0024a0025 | a0017c0017a0024c0030a0025c0031 | a0017c0017t0003a0024c0030t0001a0025c0031t0001 | a0017c0017t0003g0224 a0017c0017t0003g0225 a0024c0030t0001g0227 others(1): Show |
4 | 248 | 0.0161 | -8 | c.954 others(27): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73562141 | TTGTATGT others(1): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG01106.hp2 HG01192.hp1 others(38): Show |
a0003a0010a0021others(7): Show | a0003c0002a0010c0009a0021c0029others(7): Show | a0003c0002t0001a0010c0009t0001a0021c0029t0001others(7): Show | a0003c0002t0001g0008 a0003c0002t0001g0011 a0003c0002t0001g0012 others(38): Show |
41 | 248 | 0.1653 | -8 | c.103 others(29): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |