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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCC8_chr11_17387885_17481845 | 17389839 | TAAA | T | downstream_gene_variant | MODIFIER | HG00621.hp2 HG01106.hp2 HG01256.hp2 others(23): Show |
a0001a0002a0007others(1): Show | a0001c0004a0001c0006a0001c0009others(9): Show | a0001c0004t0001a0001c0006t0001a0001c0009t0001others(11): Show | a0001c0004t0001g0216 a0001c0004t0001g0227 a0001c0004t0001g0293 others(23): Show |
26 | 72 | 0.3611 | -3 | c.*31 others(14): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 3045 | chr11 | TogoVar | |||||||
ABCC8_chr11_17387885_17481845 | 17399275 | CAAA | C | intron_variant | MODIFIER | HG02572.hp2 HG02602.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0008a0001c0014a0001c0025others(2): Show | a0001c0008t0001a0001c0014t0001a0001c0025t0001others(2): Show | a0001c0008t0001g0157 a0001c0014t0001g0168 a0001c0014t0001g0322 others(3): Show |
6 | 132 | 0.0455 | -3 | c.365 others(20): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 29/38 | chr11 | TogoVar | |||||||
ABCC8_chr11_17387885_17481845 | 17450334 | CTCT | C | intron_variant | MODIFIER | HG00621.hp2 HG02145.hp1 HG02155.hp2 others(2): Show |
a0001 | a0001c0006a0001c0007a0001c0013others(2): Show | a0001c0006t0001a0001c0007t0001a0001c0013t0001others(2): Show | a0001c0006t0001g0102 a0001c0007t0001g0117 a0001c0013t0001g0069 others(2): Show |
5 | 325 | 0.0154 | -3 | c.117 others(22): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 7/38 | chr11 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21803656 | CAAA | C | intron_variant | MODIFIER | HG00621.hp1 HG01255.hp1 HG01255.hp2 others(34): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0002t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(33): Show |
37 | 181 | 0.2044 | -3 | c.451 others(22): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 39/39 | chr12 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21808778 | CAAA | C | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG02572.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0009a0001c0003t0009others(1): Show | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(6): Show |
9 | 172 | 0.0523 | -3 | c.431 others(22): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 37/39 | chr12 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21822790 | CAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00621.hp1 HG00639.hp2 others(35): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(34): Show |
38 | 161 | 0.2360 | -3 | c.367 others(22): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 31/39 | chr12 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21862580 | ATTC | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(78): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(78): Show |
81 | 210 | 0.3857 | -3 | c.233 others(20): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 20/39 | chr12 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21865963 | CAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(79): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(79): Show |
82 | 210 | 0.3905 | -3 | c.219 others(22): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 18/39 | chr12 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21870779 | TCTA | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(34): Show |
a0001a0003 | a0001c0001a0003c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0040 a0001c0001t0001g0051 others(33): Show |
37 | 210 | 0.1762 | -3 | c.219 others(22): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 18/39 | chr12 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21889341 | CATT | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00558.hp2 others(40): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0017 others(40): Show |
43 | 210 | 0.2048 | -3 | c.180 others(22): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 14/39 | chr12 | TogoVar | |||||||
ABCD1_chrX_153719856_153749755 | 153722154 | TAAG | T | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02559.hp2 HG02615.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010 | a0001c0001t0003g0005 a0001c0001t0003g0022 a0001c0001t0003g0072 others(2): Show |
16 | 283 | 0.0565 | -3 | c.-31 others(14): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 2701 | chrX | TogoVar | |||||||
ABCD2_chr12_39545033_39624803 | 39571010 | AATC | A | intron_variant | MODIFIER | HG00639.hp1 HG01070.hp1 HG01071.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0004 | a0001c0001t0004g0020 a0001c0001t0004g0055 a0001c0001t0004g0065 others(10): Show |
18 | 338 | 0.0533 | -3 | c.200 others(22): Show |
ABCD2 | ENSG00000173208.4 | transcript | ENST00000308666.4 | protein_coding | 9/9 | chr12 | TogoVar | |||||||
ABCD2_chr12_39545033_39624803 | 39605834 | TACA | T | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp2 HG01934.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0030 | a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 others(5): Show |
8 | 338 | 0.0237 | -3 | c.123 others(20): Show |
ABCD2 | ENSG00000173208.4 | transcript | ENST00000308666.4 | protein_coding | 3/9 | chr12 | TogoVar | |||||||
ABCD3_chr1_94413389_94523663 | 94426848 | ATTT | A | intron_variant | MODIFIER | HG01884.hp2 HG01975.hp2 HG02004.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0007 a0001c0001t0001g0262 a0001c0001t0001g0263 others(7): Show |
11 | 27 | 0.4074 | -3 | c.110 others(20): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ABCD3_chr1_94413389_94523663 | 94456255 | ATTT | A | intron_variant | MODIFIER | HG00544.hp2 HG00639.hp2 HG00642.hp1 others(65): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0004 a0001c0001t0001g0182 a0001c0001t0001g0272 others(60): Show |
68 | 86 | 0.7907 | -3 | c.111 others(20): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ABCD3_chr1_94413389_94523663 | 94463044 | TTTG | T | intron_variant | MODIFIER | HG01891.hp2 HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0098 a0001c0002t0002g0166 a0001c0002t0002g0167 |
3 | 360 | 0.0083 | -3 | c.148 others(20): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ABCD3_chr1_94413389_94523663 | 94469491 | GTTT | G | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00544.hp2 others(77): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0019a0001c0002t0001others(3): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0019g0021 others(74): Show |
80 | 211 | 0.3791 | -3 | c.335 others(20): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ABCD3_chr1_94413389_94523663 | 94496694 | GTTT | G | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00639.hp2 others(57): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0018 a0001c0001t0001g0269 a0001c0001t0001g0270 others(54): Show |
60 | 113 | 0.5310 | -3 | c.138 others(22): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74287551 | CAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(119): Show |
a0001a0002a0012 | a0001c0001a0001c0004a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0005 a0001c0001t0001g0095 a0001c0001t0001g0194 others(56): Show |
122 | 153 | 0.7974 | -3 | c.163 others(20): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 17/18 | chr14 | TogoVar | |||||||
ABCD4_chr14_74280269_74307934 | 74289111 | CAAA | C | intron_variant | MODIFIER | HG00735.hp2 HG03098.hp2 HG03486.hp2 others(5): Show |
a0001a0012 | a0001c0001a0012c0011 | a0001c0001t0002a0001c0001t0020a0012c0011t0002 | a0001c0001t0002g0045 a0001c0001t0002g0159 a0001c0001t0002g0162 others(4): Show |
8 | 110 | 0.0727 | -3 | c.145 others(20): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 14/18 | chr14 | TogoVar | |||||||
ABCD4_chr14_74280269_74307934 | 74300063 | CAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG01168.hp1 HG02630.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0009 | a0001c0001t0002a0001c0001t0010a0002c0002t0001others(1): Show | a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0193 others(6): Show |
10 | 126 | 0.0794 | -3 | c.157 others(16): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 2/18 | chr14 | TogoVar | |||||||
ABCD4_chr14_74280269_74307934 | 74306169 | TATA | T | upstream_gene_variant | MODIFIER | HG01081.hp2 HG02572.hp1 HG02615.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0007a0002c0002t0001others(2): Show | a0001c0001t0001g0120 a0001c0001t0007g0041 a0001c0001t0007g0042 others(4): Show |
12 | 379 | 0.0317 | -3 | c.-32 others(14): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 3236 | chr14 | TogoVar | |||||||
ABCE1_chr4_145093311_145134524 | 145132864 | CTAA | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00741.hp1 others(61): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(29): Show |
64 | 258 | 0.2481 | -3 | c.*52 others(14): Show |
ABCE1 | ENSG00000164163.11 | transcript | ENST00000296577.9 | protein_coding | 3341 | chr4 | TogoVar | |||||||
ABCF1_chr6_30566442_30596522 | 30572165 | TGAA | T | intron_variant | MODIFIER | HG00741.hp2 HG01175.hp2 HG01891.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0017 a0001c0001t0003g0053 a0001c0001t0003g0229 others(11): Show |
19 | 414 | 0.0459 | -3 | c.73+ others(16): Show |
ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ABCF1_chr6_30566442_30596522 | 30593543 | ATTT | A | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01175.hp2 HG01891.hp2 others(18): Show |
a0001a0002 | a0001c0001a0002c0006a0002c0012 | a0001c0001t0003a0002c0006t0003a0002c0012t0003 | a0001c0001t0003g0017 a0001c0001t0003g0053 a0001c0001t0003g0229 others(13): Show |
21 | 272 | 0.0772 | -3 | c.*28 others(14): Show |
ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 2022 | chr6 | TogoVar | |||||||
ABCF2_chr7_151206484_151232205 | 151210415 | AGGG | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00438.hp2 others(87): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0016a0001c0001t0019others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0104 others(33): Show |
90 | 180 | 0.5000 | -3 | c.*36 others(14): Show |
ABCF2 | ENSG00000033050.9 | transcript | ENST00000287844.7 | protein_coding | 1068 | chr7 | TogoVar | |||||||
ABCF2_chr7_151206484_151232205 | 151219028 | CAGG | C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(164): Show |
a0001 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0016others(19): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(49): Show |
167 | 388 | 0.4304 | -3 | c.101 others(18): Show |
ABCF2 | ENSG00000033050.9 | transcript | ENST00000287844.7 | protein_coding | 8/14 | chr7 | TogoVar | |||||||
ABCF2_chr7_151206484_151232205 | 151221202 | CTTT | C | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02109.hp1 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0008a0001c0002t0011others(1): Show | a0001c0002t0007g0013 a0001c0002t0008g0040 a0001c0002t0008g0114 others(2): Show |
13 | 340 | 0.0382 | -3 | c.921 others(18): Show |
ABCF2 | ENSG00000033050.9 | transcript | ENST00000287844.7 | protein_coding | 7/14 | chr7 | TogoVar | |||||||
ABCG1_chr21_42214140_42302244 | 42219222 | CCCG | C | 5_prime_UTR_variant | MODIFIER | HG01346.hp2 HG02293.hp2 HG02486.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0015a0001c0001t0022a0001c0001t0023others(4): Show | a0001c0001t0015g0285 a0001c0001t0022g0024 a0001c0001t0023g0025 others(4): Show |
7 | 279 | 0.0251 | -3 | c.-11 others(9): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 1/15 | 9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG1_chr21_42214140_42302244 | 42262291 | ATTC | A | intron_variant | MODIFIER | HG01433.hp1 HG02083.hp2 NA18957.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0293 a0001c0001t0006g0049 a0001c0001t0006g0051 others(1): Show |
4 | 352 | 0.0114 | -3 | c.287 others(20): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42264582 | CAGG | C | intron_variant | MODIFIER | HG01167.hp1 HG01167.hp2 HG01169.hp1 others(37): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0099 a0001c0001t0001g0315 a0001c0001t0001g0325 others(36): Show |
40 | 352 | 0.1136 | -3 | c.287 others(20): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | chr21 | TogoVar | |||||||
ABCG1_chr21_42214140_42302244 | 42300616 | TGTG | T | downstream_gene_variant | MODIFIER | HG02622.hp2 HG02886.hp1 NA19240.hp2 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0004a0001c0001t0014a0001c0012t0004 | a0001c0001t0004g0279 a0001c0001t0014g0065 a0001c0012t0004g0276 |
3 | 352 | 0.0085 | -3 | c.*42 others(14): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 3373 | chr21 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88087883 | GAAA | G | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01192.hp1 others(12): Show |
a0001a0006 | a0001c0001a0006c0012 | a0001c0001t0001a0001c0001t0010a0006c0012t0001 | a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0082 others(12): Show |
15 | 169 | 0.0888 | -3 | c.*43 others(14): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 2385 | chr4 | TogoVar | |||||||
ABCG4_chr11_119144052_119167653 | 119147470 | AAAG | A | upstream_gene_variant | MODIFIER | HG02572.hp2 HG02809.hp2 HG02895.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 a0001c0001t0003g0027 a0001c0001t0003g0093 |
6 | 386 | 0.0155 | -3 | c.-19 others(14): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 1581 | chr11 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43815925 | AAAG | A | intron_variant | MODIFIER | HG00642.hp2 HG01099.hp1 HG02559.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0010 a0002c0002t0002g0103 a0002c0002t0002g0104 others(2): Show |
6 | 328 | 0.0183 | -3 | c.165 others(22): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 11/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43825604 | GTTA | G | intron_variant | MODIFIER | HG00741.hp2 HG01192.hp1 HG01943.hp2 others(17): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0001others(4): Show | a0001c0001t0001g0047 a0002c0002t0002g0138 a0003c0003t0001g0239 others(16): Show |
20 | 328 | 0.0610 | -3 | c.775 others(18): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 6/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43830686 | TCTC | T | intron_variant | MODIFIER | HG00741.hp2 HG01192.hp1 HG01943.hp2 others(16): Show |
a0002a0003a0004others(1): Show | a0002c0002a0003c0003a0004c0004others(1): Show | a0002c0002t0002a0003c0003t0001a0003c0003t0003others(3): Show | a0002c0002t0002g0138 a0003c0003t0001g0239 a0003c0003t0001g0240 others(15): Show |
19 | 328 | 0.0579 | -3 | c.501 others(20): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 4/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43833363 | ATAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(145): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0010a0001c0013others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(104): Show |
148 | 231 | 0.6407 | -3 | c.266 others(20): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43839403 | CTTT | C | upstream_gene_variant | MODIFIER | HG00438.hp1 HG01261.hp2 HG01433.hp2 others(26): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 others(25): Show |
29 | 32 | 0.9063 | -3 | c.-72 others(12): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 565 | chr2 | TogoVar | |||||||
ABCG8_chr2_43833971_43887988 | 43839403 | CTTT | C | intron_variant | MODIFIER | HG00438.hp1 HG01261.hp1 HG01433.hp1 others(29): Show |
a0002a0003a0004others(3): Show | a0002c0003a0002c0004a0003c0002others(5): Show | a0002c0003t0002a0002c0003t0004a0002c0003t0005others(15): Show | a0002c0003t0002g0231 a0002c0003t0002g0234 a0002c0003t0002g0237 others(26): Show |
32 | 33 | 0.9697 | -3 | c.63+ others(16): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43862587 | TTAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00438.hp2 others(130): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0008a0003c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(48): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(122): Show |
133 | 316 | 0.4209 | -3 | c.965 others(20): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50881926 | GGTT | G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG01167.hp2 others(22): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0162 a0001c0001t0001g0296 a0001c0001t0003g0191 others(20): Show |
25 | 374 | 0.0668 | -3 | c.486 others(18): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50884032 | GTCA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(317): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(26): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(298): Show |
320 | 374 | 0.8556 | -3 | c.487 others(20): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50908139 | GTTT | G | downstream_gene_variant | MODIFIER | HG01361.hp2 HG02559.hp2 HG02896.hp2 others(4): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0006t0001 | a0001c0001t0001g0031 a0001c0001t0001g0182 a0001c0001t0001g0207 others(4): Show |
7 | 360 | 0.0194 | -3 | c.*37 others(14): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 3170 | chr14 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25322379 | ATAT | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(17): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 others(17): Show |
20 | 314 | 0.0637 | -3 | c.422 others(18): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25325203 | CAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(126): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0004a0001c0001t0009a0001c0002t0002others(8): Show | a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0009g0288 others(123): Show |
129 | 193 | 0.6684 | -3 | c.317 others(20): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25326746 | AAAC | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(138): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0002c0006others(2): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0006others(6): Show | a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 others(135): Show |
141 | 310 | 0.4548 | -3 | c.317 others(20): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25348446 | TAAA | T | intron_variant | MODIFIER | HG01515.hp2 HG01884.hp2 HG01975.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0009a0001c0002t0010a0001c0003t0002others(1): Show | a0001c0001t0009g0287 a0001c0001t0009g0288 a0001c0001t0009g0289 others(20): Show |
23 | 67 | 0.3433 | -3 | c.192 others(20): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25356906 | TAGG | T | intron_variant | MODIFIER | HG01081.hp1 HG03579.hp1 HG04199.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 others(2): Show |
5 | 314 | 0.0159 | -3 | c.192 others(22): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25367702 | CATA | C | intron_variant | MODIFIER | HG02145.hp2 HG02559.hp1 HG02809.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0005t0004 | a0001c0001t0004g0239 a0001c0001t0004g0291 a0001c0005t0004g0292 others(1): Show |
4 | 314 | 0.0127 | -3 | c.191 others(22): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar |