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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALDH1A1_chr9_72895671_72958053 | 72908552 | GAAGAAAG others(9): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG01516.hp1 HG01993.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0068a0001c0001t0001g0112a0001c0001t0001g0113others(7): Show | 10 | 306 | 0.0327 | -16 | c.135 others(35): Show |
ALDH1A1 | ENSG00000165092.13 | transcript | ENST00000297785.8 | protein_coding | 11/12 | chr9 | TogoVar | ||||||
ALDH1A2_chr15_57948429_58070711 | 57981313 | CACACACA others(9): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0118 | 1 | 326 | 0.0031 | -16 | c.798 others(35): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 7/12 | chr15 | TogoVar | ||||||
ALDH1A2_chr15_57948429_58070711 | 57989758 | GTAACTAA others(9): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG02630.hp1 HG02723.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003a0002c0002t0002g0136 | 3 | 326 | 0.0092 | -16 | c.798 others(33): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 7/12 | chr15 | TogoVar | ||||||
ALDH1L1_chr3_126098570_126185586 | 126124110 | GACACACA others(9): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(81): Show |
a0001a0002a0005others(10): Show | a0001c0001a0002c0002a0005c0005others(12): Show | a0001c0001t0001a0002c0002t0001a0005c0005t0001others(12): Show | a0001c0001t0001g0080a0001c0001t0001g0123a0001c0001t0001g0125others(74): Show | 84 | 338 | 0.2485 | -16 | c.188 others(33): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 16/22 | chr3 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105036514 | TTATATAT others(9): Show |
T | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0358 | 1 | 386 | 0.0026 | -16 | c.214 others(35): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 18/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105038254 | TCTCTCTC others(9): Show |
T | intron_variant | MODIFIER | HG02896.hp2 | a0010 | a0010c0018 | a0010c0018t0028 | a0010c0018t0028g0075 | 1 | 386 | 0.0026 | -16 | c.204 others(31): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 17/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105038279 | AACACACA others(9): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0291 | 1 | 386 | 0.0026 | -16 | c.204 others(31): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 17/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105046179 | CTCTCTCT others(9): Show |
C | intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0011 | a0001c0011t0005 | a0001c0011t0005g0285 | 1 | 386 | 0.0026 | -16 | c.186 others(33): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 15/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105046221 | ATTTTTTT others(9): Show |
A | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0009 | 1 | 386 | 0.0026 | -16 | c.186 others(33): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 15/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105071628 | ATATATAT others(9): Show |
A | intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0261 | 1 | 386 | 0.0026 | -16 | c.194 others(31): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 2/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105071632 | ATATATAT others(9): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG01257.hp2 HG01358.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(11): Show | 14 | 386 | 0.0363 | -16 | c.194 others(31): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 2/22 | chr12 | TogoVar | ||||||
ALDH2_chr12_111761933_111822532 | 111764982 | TTGTGTGT others(9): Show |
T | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02965.hp1 HG02970.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0015a0001c0001t0021others(1): Show | a0001c0001t0006g0022a0001c0001t0006g0108a0001c0001t0006g0109others(3): Show | 7 | 342 | 0.0205 | -16 | c.-20 others(27): Show |
ALDH2 | ENSG00000111275.13 | transcript | ENST00000261733.7 | protein_coding | 1950 | chr12 | TogoVar | ||||||
ALDH3A1_chr17_19732989_19753298 | 19746680 | TGTGCGTG others(9): Show |
T | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 424 | 0.0024 | -16 | c.-5- others(31): Show |
ALDH3A1 | ENSG00000108602.18 | transcript | ENST00000225740.11 | protein_coding | 1/10 | chr17 | TogoVar | ||||||
ALDH3B2_chr11_67657155_67679623 | 67670153 | GGTGTCTG others(9): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG03209.hp2 |
a0008 | a0008c0013 | a0008c0013t0008 | a0008c0013t0008g0066a0008c0013t0008g0067 | 2 | 390 | 0.0051 | -16 | c.-24 others(35): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
ALDH3B2_chr11_67657155_67679623 | 67672042 | CATATATA others(9): Show |
C | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0009 | a0001c0009t0005 | a0001c0009t0005g0088 | 1 | 390 | 0.0026 | -16 | c.-24 others(35): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
ALDH4A1_chr1_18866430_18907555 | 18905688 | AGTGTGTG others(9): Show |
A | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02080.hp1 HG02486.hp1 others(15): Show |
a0001a0005a0011 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0327a0001c0001t0002g0039a0001c0001t0005g0314others(12): Show | 18 | 406 | 0.0443 | -16 | c.-31 others(27): Show |
ALDH4A1 | ENSG00000159423.17 | transcript | ENST00000375341.8 | protein_coding | 3134 | chr1 | TogoVar | ||||||
ALDH5A1_chr6_24489969_24542207 | 24526958 | ATATATAT others(9): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG02074.hp2 HG02129.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0161a0001c0001t0002g0125a0001c0001t0002g0127others(13): Show | 16 | 368 | 0.0435 | -16 | c.117 others(35): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ALDH6A1_chr14_74051847_74089453 | 74052934 | AGGCTGCA others(9): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(392): Show |
a0000a0001a0002others(3): Show | a0000c0008a0001c0001a0001c0002others(7): Show | a0000c0008t0033a0001c0001t0001a0001c0001t0002others(63): Show | a0000c0008t0033g0277a0001c0001t0001g0001a0001c0001t0001g0002others(296): Show | 395 | 402 | 0.9826 | -16 | c.*76 others(27): Show |
ALDH6A1 | ENSG00000119711.13 | transcript | ENST00000553458.6 | protein_coding | 3912 | chr14 | TogoVar | ||||||
ALG12_chr22_49895229_49923438 | 49919154 | CCCTCGAC others(9): Show |
C | upstream_gene_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0062 | 1 | 348 | 0.0029 | -16 | c.-98 others(25): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 717 | chr22 | TogoVar | ||||||
ALG14_chr1_94969405_95077951 | 95016942 | GGTGTGTG others(9): Show |
G | intron_variant | MODIFIER | HG02886.hp2 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0059a0001c0001t0101 | a0001c0001t0059g0272a0001c0001t0101g0008 | 2 | 388 | 0.0052 | -16 | c.420 others(35): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
ALG14_chr1_94969405_95077951 | 95041392 | TGGGAGGC others(9): Show |
T | intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0191 | a0001c0001t0191g0299 | 1 | 388 | 0.0026 | -16 | c.289 others(35): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
ALG14_chr1_94969405_95077951 | 95060129 | AACACACA others(9): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp2 HG01243.hp2 others(76): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0006a0001c0001t0013others(44): Show | a0001c0001t0005g0191a0001c0001t0006g0001a0001c0001t0006g0035others(75): Show | 79 | 388 | 0.2036 | -16 | c.288 others(33): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
ALG1L2_chr3_130076831_130103390 | 130099373 | CGTGTTTG others(9): Show |
C | downstream_gene_variant | MODIFIER | HG02717.hp1 HG03225.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0099a0002c0002t0001g0071 | 2 | 261 | 0.0077 | -16 | c.*11 others(27): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 984 | chr3 | TogoVar | ||||||
ALG5_chr13_36944738_37004340 | 36977799 | AAAAAAAA others(9): Show |
A | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 276 | 0.0036 | -16 | c.562 others(33): Show |
ALG5 | ENSG00000120697.10 | transcript | ENST00000239891.4 | protein_coding | 6/9 | chr13 | TogoVar | ||||||
ALG8_chr11_78095946_78144626 | 78143317 | AACACACA others(9): Show |
A | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02717.hp1 HG02976.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0023a0001c0001t0001g0241a0001c0003t0001g0015 | 5 | 402 | 0.0124 | -16 | c.-37 others(27): Show |
ALG8 | ENSG00000159063.14 | transcript | ENST00000299626.10 | protein_coding | 3692 | chr11 | TogoVar | ||||||
ALKAL1_chr8_52529037_52570430 | 52531212 | TACACACA others(9): Show |
T | downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 396 | 0.0025 | -16 | c.*33 others(27): Show |
ALKAL1 | ENSG00000196711.9 | transcript | ENST00000358543.9 | protein_coding | 2824 | chr8 | TogoVar | ||||||
ALKBH4_chr7_102451238_102469863 | 102466760 | CTTTTTTT others(9): Show |
C | upstream_gene_variant | MODIFIER | HG00733.hp1 HG01243.hp2 HG02056.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0008a0002c0002t0001 | a0001c0001t0001g0095a0001c0001t0008g0032a0002c0002t0001g0003others(5): Show | 12 | 404 | 0.0297 | -16 | c.-19 others(27): Show |
ALKBH4 | ENSG00000160993.4 | transcript | ENST00000292566.4 | protein_coding | 1898 | chr7 | TogoVar | ||||||
ALKBH4_chr7_102451238_102469863 | 102467167 | GTGGGGTG others(9): Show |
G | upstream_gene_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 404 | 0.0025 | -16 | c.-23 others(27): Show |
ALKBH4 | ENSG00000160993.4 | transcript | ENST00000292566.4 | protein_coding | 2305 | chr7 | TogoVar | ||||||
ALKBH4_chr7_102451238_102469863 | 102467171 | GGTGTGTG others(9): Show |
G | upstream_gene_variant | MODIFIER | HG01192.hp2 HG01433.hp1 HG01943.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001a0001c0001t0002g0010a0001c0001t0002g0024others(1): Show | 7 | 404 | 0.0173 | -16 | c.-23 others(27): Show |
ALKBH4 | ENSG00000160993.4 | transcript | ENST00000292566.4 | protein_coding | 2309 | chr7 | TogoVar | ||||||
ALKBH5_chr17_18178828_18214954 | 18201743 | TTAGATAG others(9): Show |
T | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0066 | 1 | 418 | 0.0024 | -16 | c.852 others(33): Show |
ALKBH5 | ENSG00000091542.9 | transcript | ENST00000399138.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALKBH7_chr19_6367794_6380250 | 6370447 | AAGCGGAG others(9): Show |
A | upstream_gene_variant | MODIFIER | HG02630.hp1 HG03540.hp1 HG03669.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002 | 5 | 372 | 0.0134 | -16 | c.-23 others(27): Show |
ALKBH7 | ENSG00000125652.8 | transcript | ENST00000245812.8 | protein_coding | 2346 | chr19 | TogoVar | ||||||
ALKBH8_chr11_107497727_107570735 | 107530600 | AACACACA others(9): Show |
A | intron_variant | MODIFIER | NA18969.hp2 NA18975.hp2 NA19072.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042a0001c0001t0001g0306a0001c0001t0001g0307others(1): Show | 5 | 400 | 0.0125 | -16 | c.878 others(33): Show |
ALKBH8 | ENSG00000137760.15 | transcript | ENST00000428149.7 | protein_coding | 8/11 | chr11 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29253844 | TTAGATAG others(9): Show |
T | intron_variant | MODIFIER | HG01123.hp2 HG02109.hp2 HG02895.hp1 others(3): Show |
a0001a0002a0004 | a0001c0006a0001c0039a0002c0036others(1): Show | a0001c0006t0001a0001c0039t0013a0002c0036t0015others(1): Show | a0001c0006t0001g0026a0001c0039t0013g0079a0002c0036t0015g0080others(3): Show | 6 | 80 | 0.0750 | -16 | c.204 others(35): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 11/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29332285 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG01074.hp2 NA19043.hp1 |
a0001a0002 | a0001c0004a0002c0049 | a0001c0004t0001a0002c0049t0001 | a0001c0004t0001g0037a0002c0049t0001g0072 | 2 | 80 | 0.0250 | -16 | c.128 others(35): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 5/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29571602 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01123.hp2 HG02004.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0050a0002c0001others(4): Show | a0001c0006t0001a0001c0050t0014a0002c0001t0001others(4): Show | a0001c0006t0001g0026a0001c0050t0014g0078a0002c0001t0001g0033others(5): Show | 8 | 80 | 0.1000 | -16 | c.953 others(35): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29678740 | TTACTTGT others(9): Show |
T | intron_variant | MODIFIER | HG01433.hp2 HG02055.hp1 |
a0005a0006 | a0005c0021a0006c0029 | a0005c0021t0004a0006c0029t0001 | a0005c0021t0004g0006a0006c0029t0001g0016 | 2 | 80 | 0.0250 | -16 | c.952 others(35): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29706975 | ATGTGTGT others(9): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp2 HG02897.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0048a0002c0008others(4): Show | a0001c0004t0001a0001c0048t0001a0002c0008t0001others(4): Show | a0001c0004t0001g0037a0001c0048t0001g0047a0002c0008t0001g0044others(4): Show | 7 | 80 | 0.0875 | -16 | c.787 others(35): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 2/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29710499 | CGTGTGTG others(9): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 |
a0001a0004 | a0001c0020a0004c0045 | a0001c0020t0005a0004c0045t0002 | a0001c0020t0005g0005a0004c0045t0002g0043 | 2 | 80 | 0.0250 | -16 | c.787 others(33): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 2/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29750630 | GGGAAGGA others(9): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG01109.hp2 HG01884.hp2 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0009a0001c0027a0001c0035others(5): Show | a0001c0009t0005a0001c0027t0001a0001c0035t0001others(5): Show | a0001c0009t0005g0018a0001c0027t0001g0013a0001c0035t0001g0068others(5): Show | 8 | 80 | 0.1000 | -16 | c.668 others(35): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29785912 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0009a0001c0027a0001c0033others(12): Show | a0001c0009t0005a0001c0027t0001a0001c0033t0001others(12): Show | a0001c0009t0005g0018a0001c0027t0001g0013a0001c0033t0001g0029others(17): Show | 20 | 80 | 0.2500 | -16 | c.668 others(35): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29830712 | TTAAAAAA others(9): Show |
T | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0003 | a0003c0010 | a0003c0010t0006 | a0003c0010t0006g0001a0003c0010t0006g0002 | 2 | 80 | 0.0250 | -16 | c.667 others(35): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29889695 | CAGAGAGA others(9): Show |
C | intron_variant | MODIFIER | HG03195.hp1 NA18969.hp2 |
a0003a0004 | a0003c0012a0004c0002 | a0003c0012t0002a0004c0002t0003 | a0003c0012t0002g0034a0004c0002t0003g0041 | 2 | 80 | 0.0250 | -16 | c.667 others(35): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73413244 | TGCAGAGA others(9): Show |
T | intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 248 | 0.0040 | -16 | c.450 others(33): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73515768 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG02717.hp2 | a0025 | a0025c0031 | a0025c0031t0001 | a0025c0031t0001g0226 | 1 | 248 | 0.0040 | -16 | c.954 others(35): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73568995 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | NA19081.hp2 | a0040 | a0040c0036 | a0040c0036t0001 | a0040c0036t0001g0027 | 1 | 248 | 0.0040 | -16 | c.103 others(37): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALOX12B_chr17_8067636_8092716 | 8078115 | TTTTATTT others(9): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257a0001c0001t0001g0259 | 2 | 462 | 0.0043 | -16 | c.107 others(33): Show |
ALOX12B | ENSG00000179477.11 | transcript | ENST00000647874.1 | protein_coding | 8/14 | chr17 | TogoVar | ||||||
ALOX12_chr17_6991049_7015754 | 7004216 | AATTAATT others(9): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00673.hp2 others(61): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0017 | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(1): Show | a0001c0001t0001g0011a0001c0001t0001g0039a0001c0001t0001g0114others(27): Show | 64 | 404 | 0.1584 | -16 | c.116 others(35): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALOX5_chr10_45369216_45451117 | 45431548 | GTTATTTA others(9): Show |
G | intron_variant | MODIFIER | HG02922.hp2 HG03041.hp1 |
a0001 | a0001c0006a0001c0008 | a0001c0006t0001a0001c0008t0002 | a0001c0006t0001g0034a0001c0008t0002g0259 | 2 | 345 | 0.0058 | -16 | c.981 others(33): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ALOXE3_chr17_8090900_8123514 | 8093870 | TAATAAAT others(9): Show |
T | downstream_gene_variant | MODIFIER | HG02056.hp1 HG02132.hp2 HG02615.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0012a0002c0003 | a0001c0001t0002a0001c0001t0004a0001c0012t0003others(1): Show | a0001c0001t0002g0127a0001c0001t0002g0215a0001c0001t0002g0352others(4): Show | 7 | 422 | 0.0166 | -16 | c.*27 others(27): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 2029 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8105633 | TGCATGAG others(9): Show |
T | intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0030 | 1 | 422 | 0.0024 | -16 | c.168 others(35): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar |