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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AKR1C1_chr10_4958415_4988283 | 4959715 | A | AGGCTGAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00733.hp2 others(26): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0004a0001c0001t0013a0001c0001t0016others(8): Show | a0001c0001t0004g0010 a0001c0001t0004g0018 a0001c0001t0004g0097 others(14): Show |
29 | 424 | 0.0684 | 9 | c.-37 others(20): Show |
AKR1C1 | ENSG00000187134.14 | transcript | ENST00000380872.9 | protein_coding | 3699 | chr10 | TogoVar | |||||||
AKR1D1_chr7_138071459_138123305 | 138100088 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01516.hp1 HG02083.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0037 | a0001c0001t0003g0024 a0001c0001t0003g0056 a0001c0001t0003g0060 others(4): Show |
8 | 24 | 0.3333 | 9 | c.456 others(26): Show |
AKR1D1 | ENSG00000122787.15 | transcript | ENST00000242375.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AKR7A2_chr1_19298965_19317144 | 19312149 | G | GCCGGGGG others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(59): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0014a0002c0002others(2): Show | a0001c0001t0001a0001c0014t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0017 others(25): Show |
62 | 455 | 0.1363 | 9 | c.-26 others(16): Show |
AKR7A2 | ENSG00000053371.13 | transcript | ENST00000235835.8 | protein_coding | 6 | chr1 | TogoVar | |||||||
AKT2_chr19_40225317_40290345 | 40244056 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG00673.hp1 others(37): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0010 a0001c0001t0001g0193 a0001c0001t0001g0218 others(35): Show |
40 | 71 | 0.5634 | 9 | c.288 others(26): Show |
AKT2 | ENSG00000105221.18 | transcript | ENST00000392038.7 | protein_coding | 4/13 | chr19 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243686652 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01071.hp2 HG02145.hp2 HG02155.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0215 a0001c0001t0001g0220 a0001c0001t0001g0249 others(5): Show |
8 | 217 | 0.0369 | 9 | c.172 others(26): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 3/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243815776 | A | AGTTGTTG others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02145.hp2 HG02280.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(2): Show | a0001c0001t0001g0206 a0001c0001t0003g0204 a0001c0001t0003g0205 others(7): Show |
10 | 109 | 0.0917 | 9 | c.46+ others(26): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 2/13 | chr1 | TogoVar | |||||||
ALAD_chr9_113381312_113406284 | 113381760 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 HG01934.hp2 HG02300.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0029 a0001c0001t0001g0085 a0001c0001t0001g0254 others(4): Show |
8 | 149 | 0.0537 | 9 | c.*65 others(20): Show |
ALAD | ENSG00000148218.16 | transcript | ENST00000409155.8 | protein_coding | 4551 | chr9 | TogoVar | |||||||
ALDH1A2_chr15_57948429_58070711 | 58023658 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01928.hp2 HG01943.hp1 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0007a0002c0002t0009 | a0002c0002t0002g0083 a0002c0002t0002g0094 a0002c0002t0002g0098 others(9): Show |
12 | 172 | 0.0698 | 9 | c.118 others(26): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 1/12 | chr15 | TogoVar | |||||||
ALDH1A2_chr15_57948429_58070711 | 58061595 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01884.hp1 HG02135.hp2 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 others(8): Show |
11 | 247 | 0.0445 | 9 | c.117 others(26): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 1/12 | chr15 | TogoVar | |||||||
ALDH1L2_chr12_105014790_105089458 | 105074457 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01975.hp1 HG02965.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0036 | a0001c0001t0003g0048 a0001c0001t0004g0031 a0001c0001t0004g0045 others(2): Show |
5 | 88 | 0.0568 | 9 | c.49- others(22): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
ALDH1L2_chr12_105014790_105089458 | 105088569 | A | AAACAACA others(2): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00621.hp1 others(78): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0025 a0001c0001t0001g0089 a0001c0001t0001g0090 others(75): Show |
81 | 95 | 0.8526 | 9 | c.-41 others(20): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 4112 | chr12 | TogoVar | |||||||
ALDH4A1_chr1_18866430_18907555 | 18880023 | C | CGCTGCTC others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(107): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0025 others(89): Show |
110 | 404 | 0.2723 | 9 | c.867 others(24): Show |
ALDH4A1 | ENSG00000159423.17 | transcript | ENST00000375341.8 | protein_coding | 8/14 | chr1 | TogoVar | |||||||
ALDH5A1_chr6_24489969_24542207 | 24500647 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00733.hp2 others(25): Show |
a0001a0002a0003 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0013 a0001c0001t0001g0158 a0001c0001t0001g0159 others(25): Show |
28 | 83 | 0.3373 | 9 | c.355 others(26): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ALG10_chr12_34017496_34033302 | 34029736 | A | ATTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG01070.hp2 others(18): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0002a0003c0007t0002 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0003c0007t0002g0003 |
21 | 141 | 0.1489 | 9 | c.*28 others(20): Show |
ALG10 | ENSG00000139133.7 | transcript | ENST00000266483.7 | protein_coding | 1435 | chr12 | TogoVar | |||||||
ALG12_chr22_49895229_49923438 | 49917705 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01074.hp2 HG01361.hp2 others(16): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0003 | a0001c0002t0003a0001c0002t0007a0001c0002t0015others(6): Show | a0001c0002t0003g0063 a0001c0002t0003g0080 a0001c0002t0003g0091 others(12): Show |
19 | 235 | 0.0809 | 9 | c.-79 others(24): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
ALG1L2_chr3_130076831_130103390 | 130079049 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG02735.hp1 HG03942.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0103 others(1): Show |
5 | 15 | 0.3333 | 9 | c.-29 others(20): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 2781 | chr3 | TogoVar | |||||||
ALG1L2_chr3_130076831_130103390 | 130080282 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG01106.hp1 HG01175.hp1 others(11): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0001 | a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0038 others(8): Show |
14 | 30 | 0.4667 | 9 | c.-17 others(20): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1548 | chr3 | TogoVar | |||||||
ALG8_chr11_78095946_78144626 | 78130348 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01070.hp2 HG01975.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0001a0001c0009t0001a0002c0002t0001 | a0001c0001t0001g0109 a0001c0001t0001g0181 a0001c0001t0001g0183 others(5): Show |
8 | 203 | 0.0394 | 9 | c.96- others(24): Show |
ALG8 | ENSG00000159063.14 | transcript | ENST00000299626.10 | protein_coding | 1/12 | chr11 | TogoVar | |||||||
ALG9_chr11_111777195_111876581 | 111812915 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02895.hp1 HG02922.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0287 a0001c0001t0001g0291 a0001c0001t0001g0293 others(9): Show |
12 | 25 | 0.4800 | 9 | c.160 others(28): Show |
ALG9 | ENSG00000086848.15 | transcript | ENST00000616540.5 | protein_coding | 13/14 | chr11 | TogoVar | |||||||
ALG9_chr11_111777195_111876581 | 111826066 | C | CAATAATA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00733.hp2 HG01099.hp1 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0002g0155 a0001c0001t0002g0182 a0001c0001t0003g0222 others(22): Show |
26 | 29 | 0.8966 | 9 | c.160 others(30): Show |
ALG9 | ENSG00000086848.15 | transcript | ENST00000616540.5 | protein_coding | 13/14 | chr11 | TogoVar | |||||||
ALG9_chr11_111777195_111876581 | 111850706 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01255.hp1 HG01358.hp1 others(15): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0003a0002c0002t0001a0002c0002t0004others(1): Show | a0001c0001t0003g0219 a0002c0002t0001g0028 a0002c0002t0001g0032 others(15): Show |
18 | 27 | 0.6667 | 9 | c.895 others(26): Show |
ALG9 | ENSG00000086848.15 | transcript | ENST00000616540.5 | protein_coding | 8/14 | chr11 | TogoVar | |||||||
ALKBH1_chr14_77667404_77713023 | 77680677 | C | CTCTTTTT others(2): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01257.hp2 HG02559.hp2 others(19): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0011a0002c0002t0004others(3): Show | a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0011g0044 others(14): Show |
22 | 279 | 0.0789 | 9 | c.456 others(24): Show |
ALKBH1 | ENSG00000100601.10 | transcript | ENST00000216489.8 | protein_coding | 3/5 | chr14 | TogoVar | |||||||
ALKBH1_chr14_77667404_77713023 | 77680677 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01081.hp1 HG01243.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 a0001c0001t0002g0140 a0001c0001t0002g0142 others(4): Show |
8 | 265 | 0.0302 | 9 | c.456 others(24): Show |
ALKBH1 | ENSG00000100601.10 | transcript | ENST00000216489.8 | protein_coding | 3/5 | chr14 | TogoVar | |||||||
ALKBH5_chr17_18178828_18214954 | 18191949 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00639.hp2 others(17): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0005 a0001c0002t0004g0012 a0001c0002t0004g0029 others(8): Show |
20 | 373 | 0.0536 | 9 | c.771 others(26): Show |
ALKBH5 | ENSG00000091542.9 | transcript | ENST00000399138.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29203485 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01106.hp2 HG01109.hp1 others(13): Show |
a0001a0002a0003 | a0001c0004a0001c0009a0001c0016others(10): Show | a0001c0004t0001a0001c0004t0008a0001c0009t0005others(11): Show | a0001c0004t0001g0037 a0001c0004t0008g0003 a0001c0009t0005g0018 others(13): Show |
16 | 19 | 0.8421 | 9 | c.393 others(28): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 26/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29216933 | G | GCATGTGT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00738.hp1 others(13): Show |
a0001a0002a0006 | a0001c0017a0001c0022a0001c0033others(10): Show | a0001c0017t0001a0001c0022t0001a0001c0033t0001others(10): Show | a0001c0017t0001g0012 a0001c0022t0001g0007 a0001c0033t0001g0029 others(13): Show |
16 | 34 | 0.4706 | 9 | c.364 others(28): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 23/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29470326 | G | GTGAAGAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01106.hp1 others(11): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0006a0001c0009others(10): Show | a0001c0004t0008a0001c0006t0001a0001c0009t0005others(10): Show | a0001c0004t0008g0003 a0001c0006t0001g0036 a0001c0009t0005g0018 others(11): Show |
14 | 80 | 0.1750 | 9 | c.115 others(30): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29644609 | C | CCATTCAT others(2): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01074.hp2 HG01109.hp2 others(22): Show |
a0001a0002a0003others(4): Show | a0001c0004a0001c0006a0001c0009others(20): Show | a0001c0004t0008a0001c0006t0007a0001c0009t0005others(20): Show | a0001c0004t0008g0003 a0001c0006t0007g0056 a0001c0009t0005g0018 others(22): Show |
25 | 80 | 0.3125 | 9 | c.952 others(28): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29725154 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02486.hp2 others(1): Show |
a0001a0005 | a0001c0025a0001c0050a0001c0051others(1): Show | a0001c0025t0011a0001c0050t0014a0001c0051t0001others(1): Show | a0001c0025t0011g0074 a0001c0050t0014g0077 a0001c0051t0001g0019 others(1): Show |
4 | 13 | 0.3077 | 9 | c.668 others(26): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29831259 | G | GGAAGAAG others(2): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02145.hp1 HG03540.hp2 |
a0001a0002a0006 | a0001c0009a0002c0001a0006c0029 | a0001c0009t0005a0002c0001t0001a0006c0029t0001 | a0001c0009t0005g0018 a0002c0001t0001g0061 a0006c0029t0001g0016 |
3 | 16 | 0.1875 | 9 | c.667 others(28): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29876623 | T | TGGTGATG others(2): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02258.hp2 NA19043.hp2 |
a0001a0003 | a0001c0004a0001c0022a0003c0012 | a0001c0004t0008a0001c0022t0001a0003c0012t0002 | a0001c0004t0008g0003 a0001c0022t0001g0007 a0003c0012t0002g0067 |
3 | 80 | 0.0375 | 9 | c.667 others(28): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29926003 | G | GAGAAGAG others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(68): Show |
a0001a0002a0003others(5): Show | a0001c0004a0001c0006a0001c0009others(50): Show | a0001c0004t0001a0001c0004t0008a0001c0006t0001others(52): Show | a0001c0004t0001g0021 a0001c0004t0001g0037 a0001c0004t0008g0003 others(68): Show |
71 | 80 | 0.8875 | 9 | c.-53 others(20): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4418 | chr2 | TogoVar | |||||||
ALLC_chr2_3653200_3707671 | 3690296 | C | CCCTCCCC others(2): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01891.hp2 HG02004.hp1 others(6): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0002c0002t0002a0003c0003t0001others(1): Show | a0002c0002t0001g0069 a0002c0002t0002g0019 a0002c0002t0002g0060 others(6): Show |
9 | 234 | 0.0385 | 9 | c.512 others(26): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3704585 | A | AGGGGCGT others(2): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(200): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0012a0002c0002others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(167): Show |
203 | 264 | 0.7689 | 9 | c.*20 others(20): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 1915 | chr2 | TogoVar | |||||||
ALLC_chr2_3653200_3707671 | 3704590 | C | CGTGGGGG others(2): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02071.hp1 HG03486.hp2 others(1): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0003c0003t0001a0003c0003t0002 | a0002c0002t0002g0192 a0003c0003t0001g0200 a0003c0003t0002g0028 others(1): Show |
4 | 224 | 0.0179 | 9 | c.*20 others(20): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 1920 | chr2 | TogoVar | |||||||
ALMS1_chr2_73380836_73614916 | 73391294 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00738.hp1 others(82): Show |
a0001a0002a0008others(4): Show | a0001c0003a0001c0004a0001c0011others(35): Show | a0001c0003t0002a0001c0004t0001a0001c0011t0001others(35): Show | a0001c0003t0002g0064 a0001c0003t0002g0066 a0001c0003t0002g0067 others(82): Show |
85 | 199 | 0.4271 | 9 | c.324 others(26): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73404899 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02257.hp1 others(9): Show |
a0001a0008 | a0001c0004a0001c0012a0001c0026others(5): Show | a0001c0004t0001a0001c0012t0001a0001c0026t0001others(5): Show | a0001c0004t0001g0040 a0001c0004t0001g0041 a0001c0004t0001g0043 others(9): Show |
12 | 102 | 0.1176 | 9 | c.325 others(26): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73458033 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(14): Show |
a0001 | a0001c0004a0001c0011a0001c0013others(5): Show | a0001c0004t0001a0001c0011t0001a0001c0013t0001others(5): Show | a0001c0004t0001g0005 a0001c0004t0001g0031 a0001c0004t0001g0036 others(14): Show |
17 | 58 | 0.2931 | 9 | c.767 others(28): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73515805 | A | ACACACAC others(2): Show |
intron_variant | MODIFIER | HG02622.hp2 HG04204.hp2 NA19009.hp2 |
a0001a0007 | a0001c0003a0001c0050a0007c0009 | a0001c0003t0002a0001c0050t0001a0007c0009t0001 | a0001c0003t0002g0066 a0001c0050t0001g0246 a0007c0009t0001g0189 |
3 | 246 | 0.0122 | 9 | c.954 others(28): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | TogoVar | |||||||
ALMS1_chr2_73380836_73614916 | 73579063 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02615.hp2 HG02622.hp1 others(10): Show |
a0001a0003a0007 | a0001c0012a0001c0022a0001c0024others(5): Show | a0001c0012t0001a0001c0022t0001a0001c0024t0001others(5): Show | a0001c0012t0001g0203 a0001c0022t0001g0200 a0001c0022t0001g0201 others(10): Show |
13 | 108 | 0.1204 | 9 | c.115 others(30): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73585726 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01106.hp2 HG01192.hp1 others(30): Show |
a0001a0002a0003others(4): Show | a0001c0020a0002c0001a0002c0069others(7): Show | a0001c0020t0001a0002c0001t0001a0002c0069t0001others(7): Show | a0001c0020t0001g0206 a0002c0001t0001g0179 a0002c0069t0001g0167 others(30): Show |
33 | 150 | 0.2200 | 9 | c.115 others(32): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALOX15B_chr17_8034059_8054134 | 8050306 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG01167.hp2 HG01243.hp2 others(45): Show |
a0001a0004a0005others(2): Show | a0001c0008a0001c0029a0004c0006others(5): Show | a0001c0008t0001a0001c0029t0004a0004c0006t0003others(6): Show | a0001c0008t0001g0202 a0001c0029t0004g0161 a0004c0006t0003g0023 others(36): Show |
48 | 73 | 0.6575 | 9 | c.*17 others(20): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 1173 | chr17 | TogoVar | |||||||
ALPK1_chr4_112292369_112447621 | 112401592 | G | GAAATCAC others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03139.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 a0001c0001t0001g0161 a0001c0001t0001g0296 |
3 | 304 | 0.0099 | 9 | c.277 others(28): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21552114 | T | TCCCCTCC others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(149): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0019others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0002g0257 a0001c0001t0003g0066 a0001c0001t0003g0067 others(149): Show |
152 | 155 | 0.9806 | 9 | c.-10 others(28): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
ALPP_chr2_232373751_232387889 | 232385077 | G | GGAAGAAG others(2): Show |
downstream_gene_variant | MODIFIER | HG01256.hp2 HG01975.hp2 HG02080.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0002c0002t0001a0002c0005t0001 | a0001c0001t0001g0001 a0002c0002t0001g0004 a0002c0005t0001g0005 others(2): Show |
11 | 270 | 0.0407 | 9 | c.*32 others(20): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 2189 | chr2 | TogoVar | |||||||
ALPP_chr2_232373751_232387889 | 232385115 | A | AAGAAGGA others(2): Show |
downstream_gene_variant | MODIFIER | HG02970.hp2 NA18906.hp1 NA19030.hp1 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0002 | 3 | 222 | 0.0135 | 9 | c.*33 others(20): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 2227 | chr2 | TogoVar | |||||||
ALX3_chr1_110054870_110075672 | 110062645 | G | GTGTGTGT others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG01256.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0027 others(6): Show |
14 | 182 | 0.0769 | 9 | c.595 others(26): Show |
ALX3 | ENSG00000156150.9 | transcript | ENST00000647563.2 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
AMACR_chr5_33981165_34013050 | 33991726 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02132.hp1 HG02280.hp1 others(7): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0007 | a0001c0001t0015a0001c0001t0028a0002c0002t0001others(2): Show | a0001c0001t0015g0103 a0001c0001t0015g0140 a0001c0001t0028g0104 others(4): Show |
10 | 71 | 0.1408 | 9 | c.740 others(26): Show |
AMACR | ENSG00000242110.9 | transcript | ENST00000335606.11 | protein_coding | 4/4 | chr5 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46425310 | T | TGTGTGTG others(2): Show |
intron_variant | MODIFIER | HG01257.hp2 HG03471.hp2 NA18984.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0084 |
3 | 60 | 0.0500 | 9 | c.297 others(28): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 14/17 | chr11 | TogoVar | |||||||
AMDHD1_chr12_95938331_95973720 | 95954573 | T | TAAATAAA others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02293.hp1 HG02559.hp1 others(18): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0006c0010t0001 | a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0045 others(16): Show |
21 | 347 | 0.0605 | 9 | c.245 others(24): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |