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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALDH7A1_chr5_126536841_126600219 | 126548894 | TAAA | T | intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01071.hp2 others(26): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0230 a0001c0001t0001g0274 a0001c0001t0002g0156 others(26): Show |
29 | 107 | 0.2710 | -3 | c.148 others(22): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 16/17 | chr5 | TogoVar | |||||||
ALDH7A1_chr5_126536841_126600219 | 126549073 | CAAA | C | intron_variant | MODIFIER | HG00642.hp2 HG01069.hp1 HG01071.hp2 others(33): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0032 a0001c0001t0001g0121 a0001c0001t0001g0230 others(33): Show |
36 | 105 | 0.3429 | -3 | c.148 others(20): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 16/17 | chr5 | TogoVar | |||||||
ALDH7A1_chr5_126536841_126600219 | 126558166 | CAAA | C | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00673.hp2 others(87): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0012 others(87): Show |
90 | 168 | 0.5357 | -3 | c.100 others(22): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 11/17 | chr5 | TogoVar | |||||||
ALDH7A1_chr5_126536841_126600219 | 126565394 | CAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(117): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0037 a0001c0001t0001g0064 a0001c0001t0001g0066 others(116): Show |
120 | 260 | 0.4615 | -3 | c.871 others(20): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 9/17 | chr5 | TogoVar | |||||||
ALDH7A1_chr5_126536841_126600219 | 126574770 | TCTA | T | intron_variant | MODIFIER | HG02027.hp2 HG02074.hp2 HG02129.hp1 others(16): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(9): Show | a0001c0001t0001g0361 a0001c0004t0001g0114 a0001c0004t0001g0154 others(16): Show |
19 | 378 | 0.0503 | -3 | c.695 others(18): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 7/17 | chr5 | TogoVar | |||||||
ALDH7A1_chr5_126536841_126600219 | 126578638 | CAAA | C | intron_variant | MODIFIER | HG01069.hp2 HG01106.hp1 HG01433.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0372 a0001c0001t0002g0369 a0001c0001t0003g0375 others(5): Show |
8 | 246 | 0.0325 | -3 | c.518 others(20): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 5/17 | chr5 | TogoVar | |||||||
ALDH8A1_chr6_134912393_134955101 | 134920747 | GGGA | G | intron_variant | MODIFIER | HG01074.hp1 HG01099.hp1 HG01884.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0013 a0001c0001t0002g0051 a0001c0001t0002g0052 others(16): Show |
23 | 368 | 0.0625 | -3 | c.101 others(22): Show |
ALDH8A1 | ENSG00000118514.14 | transcript | ENST00000265605.7 | protein_coding | 6/6 | chr6 | TogoVar | |||||||
ALDH8A1_chr6_134912393_134955101 | 134927307 | AAAG | A | intron_variant | MODIFIER | HG02630.hp1 HG02897.hp2 HG02970.hp2 others(3): Show |
a0001a0002 | a0001c0010a0002c0003 | a0001c0010t0002a0002c0003t0002a0002c0003t0005 | a0001c0010t0002g0174 a0002c0003t0002g0043 a0002c0003t0002g0202 others(2): Show |
6 | 366 | 0.0164 | -3 | c.101 others(22): Show |
ALDH8A1 | ENSG00000118514.14 | transcript | ENST00000265605.7 | protein_coding | 6/6 | chr6 | TogoVar | |||||||
ALDH8A1_chr6_134912393_134955101 | 134929731 | AGAG | A | intron_variant | MODIFIER | HG02630.hp1 HG02897.hp2 HG02970.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0002a0002c0003t0005 | a0002c0003t0002g0043 a0002c0003t0002g0202 a0002c0003t0005g0199 |
4 | 368 | 0.0109 | -3 | c.850 others(18): Show |
ALDH8A1 | ENSG00000118514.14 | transcript | ENST00000265605.7 | protein_coding | 5/6 | chr6 | TogoVar | |||||||
ALDH8A1_chr6_134912393_134955101 | 134938623 | TTTA | T | intron_variant | MODIFIER | HG01891.hp2 HG01952.hp1 HG02145.hp1 others(12): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0005t0006 | a0001c0001t0001g0007 a0001c0001t0001g0040 a0001c0001t0001g0177 others(6): Show |
15 | 357 | 0.0420 | -3 | c.592 others(18): Show |
ALDH8A1 | ENSG00000118514.14 | transcript | ENST00000265605.7 | protein_coding | 4/6 | chr6 | TogoVar | |||||||
ALDH8A1_chr6_134912393_134955101 | 134939500 | CCTT | C | intron_variant | MODIFIER | HG03130.hp1 HG03209.hp1 HG03486.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0004 | a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0004t0004g0188 others(2): Show |
5 | 368 | 0.0136 | -3 | c.443 others(16): Show |
ALDH8A1 | ENSG00000118514.14 | transcript | ENST00000265605.7 | protein_coding | 3/6 | chr6 | TogoVar | |||||||
ALDH9A1_chr1_165657216_165703562 | 165677857 | CAAA | C | intron_variant | MODIFIER | HG00609.hp2 HG01928.hp1 HG01934.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001a0002c0005t0010 | a0001c0001t0001g0023 a0001c0001t0001g0084 a0001c0001t0001g0103 others(6): Show |
13 | 186 | 0.0699 | -3 | c.930 others(20): Show |
ALDH9A1 | ENSG00000143149.13 | transcript | ENST00000354775.5 | protein_coding | 6/10 | chr1 | TogoVar | |||||||
ALDH9A1_chr1_165657216_165703562 | 165694504 | CTCT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(102): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0023 others(71): Show |
105 | 330 | 0.3182 | -3 | c.327 others(18): Show |
ALDH9A1 | ENSG00000143149.13 | transcript | ENST00000354775.5 | protein_coding | 2/10 | chr1 | TogoVar | |||||||
ALDH9A1_chr1_165657216_165703562 | 165695508 | TTTC | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00735.hp1 others(44): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(10): Show | a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0001g0056 others(33): Show |
47 | 330 | 0.1424 | -3 | c.182 others(18): Show |
ALDH9A1 | ENSG00000143149.13 | transcript | ENST00000354775.5 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
ALDOC_chr17_28568120_28581895 | 28576093 | TCTC | T | intron_variant | MODIFIER | HG01069.hp2 HG01361.hp2 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 3 | 350 | 0.0086 | -3 | c.-12 others(18): Show |
ALDOC | ENSG00000109107.14 | transcript | ENST00000226253.9 | protein_coding | 1/8 | chr17 | TogoVar | |||||||
ALG10B_chr12_38311774_38334721 | 38322527 | CATT | C | 3_prime_UTR_variant | MODIFIER | HG00741.hp1 HG02055.hp1 HG02109.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0029 | a0001c0001t0006g0006 a0001c0001t0006g0010 a0001c0001t0029g0016 |
18 | 450 | 0.0400 | -3 | c.*13 others(14): Show |
ALG10B | ENSG00000175548.9 | transcript | ENST00000308742.9 | protein_coding | 3/3 | 1317 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ALG10B_chr12_38311774_38334721 | 38325513 | TGAA | T | 3_prime_UTR_variant | MODIFIER | HG02970.hp2 HG03041.hp1 HG03139.hp1 others(4): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0014a0001c0001t0078a0006c0008t0014 | a0001c0001t0014g0012 a0001c0001t0078g0012 a0006c0008t0014g0009 |
7 | 450 | 0.0156 | -3 | c.*43 others(14): Show |
ALG10B | ENSG00000175548.9 | transcript | ENST00000308742.9 | protein_coding | 3/3 | 4304 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ALG10B_chr12_38311774_38334721 | 38328536 | GTGT | G | 3_prime_UTR_variant | MODIFIER | HG01167.hp1 HG02145.hp2 HG02257.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0007 a0001c0001t0012g0014 |
9 | 450 | 0.0200 | -3 | c.*73 others(14): Show |
ALG10B | ENSG00000175548.9 | transcript | ENST00000308742.9 | protein_coding | 3/3 | 7327 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ALG10_chr12_34017496_34033302 | 34031870 | TATG | T | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02559.hp1 HG02630.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0008 | 10 | 330 | 0.0303 | -3 | c.*49 others(14): Show |
ALG10 | ENSG00000139133.7 | transcript | ENST00000266483.7 | protein_coding | 3569 | chr12 | TogoVar | |||||||
ALG11_chr13_52007398_52038600 | 52015934 | CAGA | C | intron_variant | MODIFIER | HG02486.hp1 HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0022 a0001c0001t0007g0041 |
3 | 360 | 0.0083 | -3 | c.45- others(18): Show |
ALG11 | ENSG00000253710.5 | transcript | ENST00000521508.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ALG11_chr13_52007398_52038600 | 52021179 | TAAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(150): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(9): Show | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0011 others(41): Show |
153 | 360 | 0.4250 | -3 | c.275 others(20): Show |
ALG11 | ENSG00000253710.5 | transcript | ENST00000521508.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ALG12_chr22_49895229_49923438 | 49897663 | CTTT | C | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00642.hp1 others(25): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0067a0002c0003t0004a0002c0003t0014others(6): Show | a0001c0001t0067g0167 a0002c0003t0004g0007 a0002c0003t0004g0013 others(14): Show |
28 | 224 | 0.1250 | -3 | c.*61 others(14): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 2565 | chr22 | TogoVar | |||||||
ALG12_chr22_49895229_49923438 | 49922840 | TGGG | T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG02257.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0014 a0001c0001t0012g0151 |
5 | 343 | 0.0146 | -3 | c.-46 others(14): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 4403 | chr22 | TogoVar | |||||||
ALG12_chr22_49895229_49923438 | 49922858 | GGCT | G | upstream_gene_variant | MODIFIER | HG02615.hp2 HG03139.hp2 HG03710.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0002a0001c0002t0003a0001c0002t0007others(3): Show | a0001c0001t0002g0003 a0001c0002t0003g0071 a0001c0002t0007g0076 others(3): Show |
6 | 346 | 0.0173 | -3 | c.-46 others(14): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 4421 | chr22 | TogoVar | |||||||
ALG12_chr22_49895229_49923438 | 49922867 | TGTG | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(109): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0002a0001c0002t0003a0001c0002t0006others(33): Show | a0001c0001t0002g0003 a0001c0002t0003g0010 a0001c0002t0003g0021 others(72): Show |
112 | 339 | 0.3304 | -3 | c.-46 others(14): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 4430 | chr22 | TogoVar | |||||||
ALG13_chrX_111676170_111765649 | 111744768 | ACCT | A | conservative_inframe_deletion | MODERATE | HG00558.hp2 HG02965.hp1 HG02976.hp1 others(2): Show |
a0001a0003 | a0001c0010a0003c0004 | a0001c0010t0001a0003c0004t0001 | a0001c0010t0001g0096 a0003c0004t0001g0009 a0003c0004t0001g0065 others(2): Show |
5 | 187 | 0.0267 | -3 | c.283 others(12): Show |
p.Pro others(6): Show |
ALG13 | ENSG00000101901.13 | transcript | ENST00000394780.8 | protein_coding | 24/27 | 2882/4113 | 2833/3414 | 945/1137 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
ALG14_chr1_94969405_95077951 | 95036419 | CTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG01074.hp1 HG02109.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0019a0001c0001t0021others(10): Show | a0001c0001t0002g0225 a0001c0001t0019g0118 a0001c0001t0021g0078 others(10): Show |
13 | 90 | 0.1444 | -3 | c.289 others(20): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
ALG14_chr1_94969405_95077951 | 95055828 | TAAA | T | intron_variant | MODIFIER | HG02602.hp2 HG02717.hp2 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0009a0001c0001t0013others(3): Show | a0001c0001t0006g0043 a0001c0001t0009g0099 a0001c0001t0013g0050 others(3): Show |
6 | 58 | 0.1034 | -3 | c.288 others(20): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
ALG14_chr1_94969405_95077951 | 95073832 | TTAA | T | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01081.hp2 HG01243.hp2 others(63): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0013a0001c0001t0014others(33): Show | a0001c0001t0006g0002 a0001c0001t0006g0036 a0001c0001t0006g0037 others(62): Show |
66 | 386 | 0.1710 | -3 | c.-93 others(12): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 882 | chr1 | TogoVar | |||||||
ALG14_chr1_94969405_95077951 | 95076434 | CAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(92): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(46): Show | a0001c0001t0001g0279 a0001c0001t0001g0292 a0001c0001t0001g0293 others(92): Show |
95 | 136 | 0.6985 | -3 | c.-35 others(14): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 3484 | chr1 | TogoVar | |||||||
ALG1L2_chr3_130076831_130103390 | 130080282 | CTTT | C | upstream_gene_variant | MODIFIER | HG03041.hp1 HG03098.hp2 HG03471.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0003t0001g0012 others(3): Show |
6 | 22 | 0.2727 | -3 | c.-17 others(14): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1548 | chr3 | TogoVar | |||||||
ALG1L2_chr3_130076831_130103390 | 130095409 | TTTA | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(79): Show |
a0001a0002a0008 | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(44): Show |
82 | 125 | 0.6560 | -3 | c.425 others(18): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ALG1L2_chr3_130076831_130103390 | 130098414 | GCTT | G | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02257.hp1 HG02976.hp2 |
a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0018 a0001c0006t0002g0064 |
3 | 260 | 0.0115 | -3 | c.*16 others(12): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 25 | chr3 | TogoVar | |||||||
ALG1_chr16_5066843_5092379 | 5080048 | TTTG | T | intron_variant | MODIFIER | HG02109.hp2 HG02622.hp2 HG02965.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0018 a0001c0001t0014g0106 |
5 | 442 | 0.0113 | -3 | c.961 others(18): Show |
ALG1 | ENSG00000033011.14 | transcript | ENST00000262374.10 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ALG1_chr16_5066843_5092379 | 5086334 | CAAA | C | 3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG01175.hp1 HG01981.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0030a0001c0002t0007 | a0001c0001t0007g0001 a0001c0001t0007g0009 a0001c0001t0007g0026 others(3): Show |
11 | 51 | 0.2157 | -3 | c.*14 others(14): Show |
ALG1 | ENSG00000033011.14 | transcript | ENST00000262374.10 | protein_coding | 13/13 | 1469 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ALG1_chr16_5066843_5092379 | 5087150 | GGAA | G | 3_prime_UTR_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG03688.hp2 |
a0002a0005 | a0002c0003a0005c0008 | a0002c0003t0018a0002c0003t0023a0005c0008t0018 | a0002c0003t0018g0033 a0002c0003t0023g0033 a0005c0008t0018g0081 |
3 | 442 | 0.0068 | -3 | c.*22 others(14): Show |
ALG1 | ENSG00000033011.14 | transcript | ENST00000262374.10 | protein_coding | 13/13 | 2279 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ALG1_chr16_5066843_5092379 | 5087934 | TTTA | T | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(224): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0007others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(29): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(77): Show |
227 | 442 | 0.5136 | -3 | c.*30 others(14): Show |
ALG1 | ENSG00000033011.14 | transcript | ENST00000262374.10 | protein_coding | 556 | chr16 | TogoVar | |||||||
ALG3_chr3_184237301_184253962 | 184246675 | GTCT | G | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG02965.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0049 a0001c0002t0002g0012 |
3 | 338 | 0.0089 | -3 | c.197 others(18): Show |
ALG3 | ENSG00000214160.10 | transcript | ENST00000397676.8 | protein_coding | 1/8 | chr3 | TogoVar | |||||||
ALG5_chr13_36944738_37004340 | 36954263 | ATCT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0001c0007others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0007t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(185): Show |
228 | 274 | 0.8321 | -3 | c.774 others(20): Show |
ALG5 | ENSG00000120697.10 | transcript | ENST00000239891.4 | protein_coding | 8/9 | chr13 | TogoVar | |||||||
ALG5_chr13_36944738_37004340 | 36974200 | AAAG | A | intron_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG01981.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0001g0032 others(14): Show |
18 | 274 | 0.0657 | -3 | c.562 others(20): Show |
ALG5 | ENSG00000120697.10 | transcript | ENST00000239891.4 | protein_coding | 6/9 | chr13 | TogoVar | |||||||
ALG5_chr13_36944738_37004340 | 36976425 | CAAA | C | intron_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG01981.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0001g0032 others(15): Show |
19 | 213 | 0.0892 | -3 | c.562 others(20): Show |
ALG5 | ENSG00000120697.10 | transcript | ENST00000239891.4 | protein_coding | 6/9 | chr13 | TogoVar | |||||||
ALG5_chr13_36944738_37004340 | 36977812 | AAAC | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(72): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(62): Show |
75 | 274 | 0.2737 | -3 | c.562 others(20): Show |
ALG5 | ENSG00000120697.10 | transcript | ENST00000239891.4 | protein_coding | 6/9 | chr13 | TogoVar | |||||||
ALG5_chr13_36944738_37004340 | 36982109 | AAAC | A | intron_variant | MODIFIER | HG00609.hp1 HG01243.hp1 HG01496.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 others(10): Show |
16 | 274 | 0.0584 | -3 | c.561 others(20): Show |
ALG5 | ENSG00000120697.10 | transcript | ENST00000239891.4 | protein_coding | 6/9 | chr13 | TogoVar | |||||||
ALG5_chr13_36944738_37004340 | 36997466 | CAAA | C | intron_variant | MODIFIER | HG01109.hp2 HG01169.hp1 HG01192.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012 a0001c0001t0001g0027 a0001c0001t0001g0028 others(16): Show |
20 | 42 | 0.4762 | -3 | c.66+ others(18): Show |
ALG5 | ENSG00000120697.10 | transcript | ENST00000239891.4 | protein_coding | 1/9 | chr13 | TogoVar | |||||||
ALG5_chr13_36944738_37004340 | 37003617 | ATTC | A | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02647.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(1): Show |
4 | 274 | 0.0146 | -3 | c.-43 others(14): Show |
ALG5 | ENSG00000120697.10 | transcript | ENST00000239891.4 | protein_coding | 4278 | chr13 | TogoVar | |||||||
ALG6_chr1_63362627_63443553 | 63379370 | TAGG | T | intron_variant | MODIFIER | HG02572.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0010a0001c0003t0010 | a0001c0001t0004g0318 a0001c0001t0004g0319 a0001c0001t0010g0326 others(2): Show |
5 | 386 | 0.0130 | -3 | c.82+ others(18): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALG6_chr1_63362627_63443553 | 63400207 | ATAT | A | intron_variant | MODIFIER | HG01934.hp2 HG02451.hp2 HG02683.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007 | a0001c0001t0002g0353 a0001c0001t0003g0103 a0001c0001t0003g0138 others(2): Show |
5 | 251 | 0.0199 | -3 | c.168 others(20): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3/14 | chr1 | TogoVar | |||||||
ALG6_chr1_63362627_63443553 | 63400221 | ACGT | A | intron_variant | MODIFIER | HG00544.hp1 HG00733.hp1 HG01071.hp1 others(43): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0003a0001c0001t0013a0001c0003t0009others(4): Show | a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0010 others(42): Show |
46 | 283 | 0.1625 | -3 | c.168 others(20): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3/14 | chr1 | TogoVar | |||||||
ALG6_chr1_63362627_63443553 | 63424774 | ATTT | A | intron_variant | MODIFIER | HG01167.hp2 HG01516.hp1 HG01517.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0046 a0001c0001t0002g0053 a0001c0001t0002g0082 others(6): Show |
9 | 195 | 0.0462 | -3 | c.105 others(22): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALG8_chr11_78095946_78144626 | 78103686 | CTGT | C | intron_variant | MODIFIER | HG02257.hp1 HG02258.hp2 HG02572.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0060 a0001c0001t0001g0061 others(4): Show |
7 | 400 | 0.0175 | -3 | c.134 others(20): Show |
ALG8 | ENSG00000159063.14 | transcript | ENST00000299626.10 | protein_coding | 12/12 | chr11 | TogoVar |