regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DPP10_chr2_114437641_115850780 | 114591554 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0049 | 1 | 56 | 0.0179 | 17 | c.60+ others(36): Show |
DPP10 | ENSG00000175497.17 | transcript | ENST00000410059.6 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DPP10_chr2_114437641_115850780 | 114987804 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0024 | 1 | 56 | 0.0179 | 17 | c.61- others(36): Show |
DPP10 | ENSG00000175497.17 | transcript | ENST00000410059.6 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DPP10_chr2_114437641_115850780 | 115286526 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG01192.hp1 HG03239.hp2 NA19079.hp1 others(2): Show |
a0001a0002a0005 | a0001c0002a0002c0001a0005c0007 | a0001c0002t0001a0001c0002t0009a0002c0001t0002others(1): Show | a0001c0002t0001g0014a0001c0002t0001g0028a0001c0002t0009g0034others(2): Show | 5 | 56 | 0.0893 | 17 | c.61- others(34): Show |
DPP10 | ENSG00000175497.17 | transcript | ENST00000410059.6 | protein_coding | 1/25 | chr2 | TogoVar | ||||||
DPP10_chr2_114437641_115850780 | 115334230 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0037 | 1 | 56 | 0.0179 | 17 | c.176 others(34): Show |
DPP10 | ENSG00000175497.17 | transcript | ENST00000410059.6 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DPP10_chr2_114437641_115850780 | 115415841 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0011 | 1 | 56 | 0.0179 | 17 | c.271 others(36): Show |
DPP10 | ENSG00000175497.17 | transcript | ENST00000410059.6 | protein_coding | 3/25 | chr2 | TogoVar | ||||||
DPP10_chr2_114437641_115850780 | 115560403 | A | AAAAAAAT others(10): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0046 | 1 | 56 | 0.0179 | 17 | c.441 others(36): Show |
DPP10 | ENSG00000175497.17 | transcript | ENST00000410059.6 | protein_coding | 5/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DPP10_chr2_114437641_115850780 | 115560403 | A | AAAAATAT others(10): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0034 | 1 | 56 | 0.0179 | 17 | c.441 others(36): Show |
DPP10 | ENSG00000175497.17 | transcript | ENST00000410059.6 | protein_coding | 5/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DPP3_chr11_66475434_66514657 | 66501825 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0215 | 1 | 348 | 0.0029 | 17 | c.187 others(36): Show |
DPP3 | ENSG00000254986.8 | transcript | ENST00000531863.6 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DPP6_chr7_154047398_154899285 | 154135855 | T | TGCACTTC others(10): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03453.hp1 HG03579.hp1 |
a0002 | a0002c0008a0002c0009 | a0002c0008t0006a0002c0008t0012a0002c0009t0004 | a0002c0008t0006g0034a0002c0008t0012g0001a0002c0009t0004g0004 | 3 | 38 | 0.0790 | 17 | c.243 others(36): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DPP6_chr7_154047398_154899285 | 154575442 | G | GTGTATGT others(10): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02040.hp2 HG02129.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0015a0002c0002 | a0001c0001t0005a0001c0001t0016a0001c0015t0017others(2): Show | a0001c0001t0005g0032a0001c0001t0016g0005a0001c0015t0017g0036others(2): Show | 5 | 38 | 0.1316 | 17 | c.627 others(34): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 5/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DPP7_chr9_137105546_137119733 | 137114414 | G | GGGGGGCG others(10): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 454 | 0.0022 | 17 | c.181 others(30): Show |
DPP7 | ENSG00000176978.15 | transcript | ENST00000371579.7 | protein_coding | 2/12 | chr9 | TogoVar | ||||||
DPP8_chr15_65437467_65522689 | 65494149 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0003 | a0001c0003t0015 | a0001c0003t0015g0013 | 1 | 336 | 0.0030 | 17 | c.715 others(34): Show |
DPP8 | ENSG00000074603.19 | transcript | ENST00000300141.11 | protein_coding | 5/19 | chr15 | TogoVar | ||||||
DPP9_chr19_4670227_4728842 | 4670512 | T | TGCCGAGG others(10): Show |
downstream_gene_variant | MODIFIER | HG01358.hp1 HG01975.hp2 HG01978.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0159a0001c0001t0001g0183a0001c0001t0001g0268others(9): Show | 12 | 314 | 0.0382 | 17 | c.*60 others(28): Show |
DPP9 | ENSG00000142002.19 | transcript | ENST00000262960.14 | protein_coding | 4714 | chr19 | TogoVar | ||||||
DPPA3_chr12_7706433_7722559 | 7712077 | G | GGCTATTT others(10): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00558.hp1 HG00639.hp1 others(56): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0022a0001c0001t0001g0073a0001c0001t0001g0083others(21): Show | 59 | 466 | 0.1266 | 17 | c.82+ others(30): Show |
DPPA3 | ENSG00000187569.3 | transcript | ENST00000345088.3 | protein_coding | 1/3 | chr12 | TogoVar | ||||||
DPPA5_chr6_73348063_73359276 | 73356988 | T | TCAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 428 | 0.0023 | 17 | c.-27 others(28): Show |
DPPA5 | ENSG00000203909.4 | transcript | ENST00000370370.4 | protein_coding | 2713 | chr6 | TogoVar | ||||||
DPPA5_chr6_73348063_73359276 | 73356988 | T | TCAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 428 | 0.0023 | 17 | c.-27 others(28): Show |
DPPA5 | ENSG00000203909.4 | transcript | ENST00000370370.4 | protein_coding | 2713 | chr6 | TogoVar | ||||||
DPPA5_chr6_73348063_73359276 | 73356990 | A | AAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 428 | 0.0023 | 17 | c.-27 others(28): Show |
DPPA5 | ENSG00000203909.4 | transcript | ENST00000370370.4 | protein_coding | 2715 | chr6 | TogoVar | ||||||
DPPA5_chr6_73348063_73359276 | 73356991 | A | AAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 NA18943.hp1 NA19003.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0002t0001g0002 | 3 | 428 | 0.0070 | 17 | c.-27 others(28): Show |
DPPA5 | ENSG00000203909.4 | transcript | ENST00000370370.4 | protein_coding | 2716 | chr6 | TogoVar | ||||||
DPT_chr1_168690468_168734206 | 168708371 | C | CTGCTGTC others(10): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0184 | 1 | 438 | 0.0023 | 17 | c.431 others(34): Show |
DPT | ENSG00000143196.5 | transcript | ENST00000367817.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
DPY19L1_chr7_34923881_35042485 | 35017501 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01074.hp1 HG01167.hp1 others(39): Show |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0027others(39): Show | 42 | 328 | 0.1281 | 17 | c.411 others(32): Show |
DPY19L1 | ENSG00000173852.16 | transcript | ENST00000638088.2 | protein_coding | 3/21 | chr7 | TogoVar | ||||||
DPY19L1_chr7_34923881_35042485 | 35027668 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01256.hp1 HG01257.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0247a0001c0001t0002g0256a0001c0001t0002g0257others(3): Show | 6 | 328 | 0.0183 | 17 | c.299 others(34): Show |
DPY19L1 | ENSG00000173852.16 | transcript | ENST00000638088.2 | protein_coding | 1/21 | chr7 | TogoVar | ||||||
DPY19L2_chr12_63553913_63673493 | 63610841 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02165.hp1 HG02717.hp1 others(4): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0015t0001 | a0001c0001t0001g0206a0001c0001t0001g0227a0001c0001t0001g0237others(4): Show | 7 | 362 | 0.0193 | 17 | c.121 others(36): Show |
DPY19L2 | ENSG00000177990.12 | transcript | ENST00000324472.9 | protein_coding | 11/21 | chr12 | TogoVar | ||||||
DPY19L3_chr19_32400770_32490890 | 32445440 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG01169.hp1 others(9): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0006a0001c0003t0004 | a0001c0002t0006g0077a0001c0002t0006g0084a0001c0002t0006g0087others(9): Show | 12 | 384 | 0.0313 | 17 | c.855 others(34): Show |
DPY19L3 | ENSG00000178904.19 | transcript | ENST00000392250.7 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
DPYSL2_chr8_26509031_26663175 | 26538441 | A | AGAGCGAT others(10): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0054 | 1 | 316 | 0.0032 | 17 | c.354 others(36): Show |
DPYSL2 | ENSG00000092964.18 | transcript | ENST00000521913.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DPYSL2_chr8_26509031_26663175 | 26556150 | A | ATATAGTA others(10): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0002 | a0001c0002t0045 | a0001c0002t0045g0280 | 1 | 316 | 0.0032 | 17 | c.355 others(36): Show |
DPYSL2 | ENSG00000092964.18 | transcript | ENST00000521913.7 | protein_coding | 1/13 | chr8 | TogoVar | ||||||
DPYSL2_chr8_26509031_26663175 | 26556260 | A | AGTATATA others(10): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02622.hp2 HG02976.hp1 others(3): Show |
a0001a0003 | a0001c0006a0001c0015a0003c0014 | a0001c0006t0021a0001c0006t0022a0001c0006t0030others(2): Show | a0001c0006t0021g0314a0001c0006t0021g0315a0001c0006t0022g0313others(3): Show | 6 | 316 | 0.0190 | 17 | c.355 others(36): Show |
DPYSL2 | ENSG00000092964.18 | transcript | ENST00000521913.7 | protein_coding | 1/13 | chr8 | TogoVar | ||||||
DPYSL2_chr8_26509031_26663175 | 26556351 | A | ATAGTATA others(10): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0222 | 1 | 316 | 0.0032 | 17 | c.355 others(36): Show |
DPYSL2 | ENSG00000092964.18 | transcript | ENST00000521913.7 | protein_coding | 1/13 | chr8 | TogoVar | ||||||
DPYSL4_chr10_132181948_132210759 | 132186857 | C | CGGGGGCG others(10): Show |
upstream_gene_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 1 | 418 | 0.0024 | 17 | c.-20 others(26): Show |
DPYSL4 | ENSG00000151640.13 | transcript | ENST00000338492.9 | protein_coding | 90 | chr10 | TogoVar | ||||||
DPYSL4_chr10_132181948_132210759 | 132205982 | G | GCCCCCCC others(10): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0150 | 1 | 418 | 0.0024 | 17 | c.*10 others(28): Show |
DPYSL4 | ENSG00000151640.13 | transcript | ENST00000338492.9 | protein_coding | 224 | chr10 | TogoVar | ||||||
DPYSL4_chr10_132181948_132210759 | 132205982 | G | GGCCCCCC others(10): Show |
downstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0008 | 1 | 418 | 0.0024 | 17 | c.*10 others(28): Show |
DPYSL4 | ENSG00000151640.13 | transcript | ENST00000338492.9 | protein_coding | 224 | chr10 | TogoVar | ||||||
DPYSL5_chr2_26843132_26955351 | 26936945 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02559.hp1 NA18522.hp1 NA19240.hp2 |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0027a0001c0002t0039 | a0001c0002t0006g0080a0001c0002t0027g0083a0001c0002t0039g0019 | 3 | 232 | 0.0129 | 17 | c.947 others(34): Show |
DPYSL5 | ENSG00000157851.17 | transcript | ENST00000288699.11 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DRAM1_chr12_101872580_101928612 | 101895186 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG02965.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0103a0001c0001t0003g0090a0001c0001t0003g0092others(3): Show | 6 | 396 | 0.0152 | 17 | c.132 others(34): Show |
DRAM1 | ENSG00000136048.14 | transcript | ENST00000258534.13 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DRAM1_chr12_101872580_101928612 | 101904426 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0251 | 1 | 396 | 0.0025 | 17 | c.342 others(34): Show |
DRAM1 | ENSG00000136048.14 | transcript | ENST00000258534.13 | protein_coding | 3/6 | chr12 | TogoVar | ||||||
DRAM1_chr12_101872580_101928612 | 101920297 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0247 | 1 | 396 | 0.0025 | 17 | c.672 others(31): Show |
DRAM1 | ENSG00000136048.14 | transcript | ENST00000258534.13 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DRC3_chr17_17967862_18021889 | 18019177 | A | ACACACAC others(10): Show |
downstream_gene_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 324 | 0.0031 | 17 | c.*25 others(28): Show |
DRC3 | ENSG00000171962.19 | transcript | ENST00000399187.6 | protein_coding | 2289 | chr17 | TogoVar | ||||||
DRC3_chr17_17967862_18021889 | 18019186 | C | CACACACA others(10): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0110 | 1 | 324 | 0.0031 | 17 | c.*25 others(28): Show |
DRC3 | ENSG00000171962.19 | transcript | ENST00000399187.6 | protein_coding | 2298 | chr17 | TogoVar | ||||||
DRD1_chr5_175435036_175449182 | 175443071 | T | TCCATGGC others(10): Show |
frameshift_variant | HIGH | NA19006.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0035 | 1 | 490 | 0.0020 | 17 | c.12_ others(22): Show |
p.Asp others(4): Show |
DRD1 | ENSG00000184845.4 | transcript | ENST00000393752.3 | protein_coding | 2/2 | 995/4031 | 28/1341 | 10/446 | chr5 | TogoVar | ||
DRD1_chr5_175435036_175449182 | 175446090 | C | CAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0009 | 2 | 490 | 0.0041 | 17 | c.-28 others(28): Show |
DRD1 | ENSG00000184845.4 | transcript | ENST00000393752.3 | protein_coding | 1909 | chr5 | TogoVar | ||||||
DRD3_chr3_114122580_114184052 | 114164220 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0314 | 1 | 360 | 0.0028 | 17 | c.271 others(34): Show |
DRD3 | ENSG00000151577.14 | transcript | ENST00000383673.5 | protein_coding | 2/6 | chr3 | TogoVar | ||||||
DRG2_chr17_18082948_18112969 | 18090406 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 HG02572.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0022a0001c0002t0002g0103 | 3 | 418 | 0.0072 | 17 | c.64+ others(32): Show |
DRG2 | ENSG00000108591.10 | transcript | ENST00000225729.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DRG2_chr17_18082948_18112969 | 18090407 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0094 | 1 | 418 | 0.0024 | 17 | c.64+ others(32): Show |
DRG2 | ENSG00000108591.10 | transcript | ENST00000225729.8 | protein_coding | 1/12 | chr17 | TogoVar | ||||||
DROSHA_chr5_31395494_31537093 | 31397470 | A | ATATATAT others(10): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 HG01934.hp1 HG01981.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0002t0001a0002c0005t0001others(1): Show | a0001c0001t0001g0113a0001c0002t0001g0074a0001c0002t0001g0114others(10): Show | 13 | 322 | 0.0404 | 17 | c.*39 others(28): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 3023 | chr5 | TogoVar | ||||||
DROSHA_chr5_31395494_31537093 | 31421898 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0097 | 1 | 322 | 0.0031 | 17 | c.342 others(34): Show |
DROSHA | ENSG00000113360.17 | transcript | ENST00000344624.8 | protein_coding | 29/35 | chr5 | TogoVar | ||||||
DSC1_chr18_31124236_31167856 | 31159047 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02559.hp2 HG02572.hp2 others(1): Show |
a0001 | a0001c0003a0001c0013a0001c0027 | a0001c0003t0002a0001c0013t0001a0001c0027t0001 | a0001c0003t0002g0148a0001c0013t0001g0034a0001c0027t0001g0149 | 4 | 378 | 0.0106 | 17 | c.148 others(32): Show |
DSC1 | ENSG00000134765.10 | transcript | ENST00000257198.6 | protein_coding | 2/15 | chr18 | TogoVar | ||||||
DSC3_chr18_30984365_31047742 | 30995971 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0087 | 1 | 392 | 0.0026 | 17 | c.249 others(34): Show |
DSC3 | ENSG00000134762.17 | transcript | ENST00000360428.9 | protein_coding | 15/15 | chr18 | TogoVar | ||||||
DSC3_chr18_30984365_31047742 | 31036798 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00621.hp2 HG00642.hp1 others(35): Show |
a0001a0005 | a0001c0001a0001c0004a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(24): Show | a0001c0001t0001g0080a0001c0001t0001g0343a0001c0001t0002g0098others(35): Show | 38 | 392 | 0.0969 | 17 | c.70- others(32): Show |
DSC3 | ENSG00000134762.17 | transcript | ENST00000360428.9 | protein_coding | 1/15 | chr18 | TogoVar | ||||||
DSCAML1_chr11_117422772_117802216 | 117424677 | C | CAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02976.hp2 HG03195.hp2 |
a0001a0002 | a0001c0036a0002c0001a0002c0066 | a0001c0036t0003a0002c0001t0002a0002c0066t0002 | a0001c0036t0003g0063a0002c0001t0002g0175a0002c0066t0002g0070 | 3 | 194 | 0.0155 | 17 | c.*36 others(28): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3094 | chr11 | TogoVar | ||||||
DSCAML1_chr11_117422772_117802216 | 117520793 | G | GGTGCATG others(10): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01074.hp2 HG01109.hp2 others(3): Show |
a0002 | a0002c0001a0002c0002a0002c0004others(1): Show | a0002c0001t0002a0002c0002t0001a0002c0004t0001others(2): Show | a0002c0001t0002g0083a0002c0002t0001g0162a0002c0004t0001g0037others(3): Show | 6 | 194 | 0.0309 | 17 | c.121 others(34): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 6/32 | chr11 | TogoVar | ||||||
DSCAML1_chr11_117422772_117802216 | 117539606 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01123.hp1 HG01993.hp2 others(4): Show |
a0002 | a0002c0001a0002c0002a0002c0006others(1): Show | a0002c0001t0001a0002c0001t0002a0002c0002t0001others(3): Show | a0002c0001t0001g0072a0002c0001t0001g0076a0002c0001t0002g0115others(4): Show | 7 | 194 | 0.0361 | 17 | c.512 others(34): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | ||||||
DSCAML1_chr11_117422772_117802216 | 117583019 | T | TTATTATT others(10): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0034 | a0002c0034t0002 | a0002c0034t0002g0171 | 1 | 194 | 0.0052 | 17 | c.512 others(36): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar |