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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCF2_chr7_151206484_151232205 | 151210411 | TGGGA | T | downstream_gene_variant | MODIFIER | HG01884.hp1 HG01943.hp2 HG01978.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0014a0001c0001t0033a0001c0002t0007others(5): Show | a0001c0001t0014g0021 a0001c0001t0033g0097 a0001c0002t0007g0013 others(7): Show |
19 | 381 | 0.0499 | -4 | c.*36 others(15): Show |
ABCF2 | ENSG00000033050.9 | transcript | ENST00000287844.7 | protein_coding | 1072 | chr7 | TogoVar | |||||||
ABCF2_chr7_151206484_151232205 | 151210415 | AGGGG | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(31): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0004t0004a0001c0004t0046others(5): Show | a0001c0001t0001g0035 a0001c0001t0001g0103 a0001c0004t0004g0005 others(9): Show |
34 | 124 | 0.2742 | -4 | c.*36 others(15): Show |
ABCF2 | ENSG00000033050.9 | transcript | ENST00000287844.7 | protein_coding | 1068 | chr7 | TogoVar | |||||||
ABCF2_chr7_151206484_151232205 | 151216064 | CAAAG | C | intron_variant | MODIFIER | HG01884.hp1 HG01978.hp1 HG02055.hp2 others(7): Show |
a0001 | a0001c0006a0001c0008a0001c0013 | a0001c0006t0010a0001c0006t0013a0001c0008t0010others(1): Show | a0001c0006t0010g0072 a0001c0006t0010g0073 a0001c0006t0013g0031 others(4): Show |
10 | 388 | 0.0258 | -4 | c.133 others(19): Show |
ABCF2 | ENSG00000033050.9 | transcript | ENST00000287844.7 | protein_coding | 11/14 | chr7 | TogoVar | |||||||
ABCF3_chr3_184181199_184199005 | 184197845 | TTGTG | T | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00621.hp1 others(29): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0002t0001a0003c0004t0001 | a0001c0001t0001g0004 a0001c0001t0001g0039 a0001c0001t0001g0041 others(4): Show |
32 | 71 | 0.4507 | -4 | c.*41 others(15): Show |
ABCF3 | ENSG00000161204.12 | transcript | ENST00000429586.7 | protein_coding | 3841 | chr3 | TogoVar | |||||||
ABCG1_chr21_42214140_42302244 | 42227839 | GGAGA | G | intron_variant | MODIFIER | HG02451.hp2 HG02486.hp2 HG02559.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0030others(1): Show | a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0004g0269 others(2): Show |
5 | 351 | 0.0142 | -4 | c.286 others(21): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42243441 | TGTGC | T | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00544.hp1 others(91): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0085 a0001c0001t0001g0093 a0001c0001t0001g0133 others(88): Show |
94 | 352 | 0.2670 | -4 | c.286 others(23): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42243445 | CGCGT | C | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0084 a0001c0001t0001g0124 a0001c0001t0001g0145 others(38): Show |
42 | 300 | 0.1400 | -4 | c.286 others(23): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42243447 | CGTGT | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG01074.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0238 a0001c0001t0001g0290 a0001c0001t0001g0340 others(12): Show |
15 | 281 | 0.0534 | -4 | c.286 others(23): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42243487 | TGTGC | T | intron_variant | MODIFIER | HG01243.hp2 HG02886.hp1 HG03098.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0093 a0001c0001t0001g0297 a0001c0001t0002g0277 others(3): Show |
6 | 351 | 0.0171 | -4 | c.286 others(23): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42300359 | ACACG | A | downstream_gene_variant | MODIFIER | HG02622.hp2 HG02886.hp1 NA19240.hp2 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0004a0001c0001t0014a0001c0012t0004 | a0001c0001t0004g0279 a0001c0001t0014g0065 a0001c0012t0004g0276 |
3 | 352 | 0.0085 | -4 | c.*39 others(15): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 3116 | chr21 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88098645 | GAGAT | G | intron_variant | MODIFIER | HG02895.hp1 NA18960.hp1 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 a0001c0001t0001g0115 a0001c0001t0001g0174 |
3 | 73 | 0.0411 | -4 | c.149 others(21): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 12/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88146898 | AGAAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(287): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0048 others(282): Show |
290 | 348 | 0.8333 | -4 | c.-19 others(21): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 1/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88146947 | AAGGG | A | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG00738.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 others(6): Show |
9 | 346 | 0.0260 | -4 | c.-19 others(21): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 1/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88147016 | GGAAA | G | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00597.hp1 others(53): Show |
a0001a0003a0007 | a0001c0001a0003c0003a0007c0011 | a0001c0001t0001a0001c0001t0005a0001c0001t0016others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0172 a0001c0001t0001g0173 others(53): Show |
56 | 185 | 0.3027 | -4 | c.-19 others(21): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 1/15 | chr4 | TogoVar | |||||||
ABCG4_chr11_119144052_119167653 | 119147464 | GGAAA | G | upstream_gene_variant | MODIFIER | HG01081.hp2 HG01175.hp1 HG01175.hp2 others(17): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0018others(3): Show | a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0012 others(10): Show |
20 | 252 | 0.0794 | -4 | c.-19 others(15): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 1587 | chr11 | TogoVar | |||||||
ABCG4_chr11_119144052_119167653 | 119152957 | TCTTA | T | intron_variant | MODIFIER | HG01243.hp1 HG02451.hp1 HG03041.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0021 a0002c0002t0002g0043 |
4 | 386 | 0.0104 | -4 | c.239 others(21): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ABCG4_chr11_119144052_119167653 | 119164798 | AAAAC | A | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(10): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0002g0017 others(6): Show |
13 | 127 | 0.1024 | -4 | c.*36 others(15): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 2146 | chr11 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43808964 | TACAC | T | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00738.hp1 HG01175.hp1 others(31): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0010a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0047 a0001c0001t0001g0159 a0001c0001t0001g0237 others(27): Show |
34 | 179 | 0.1899 | -4 | c.*41 others(15): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 3507 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43839403 | CTTTT | C | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01070.hp1 HG01106.hp1 others(33): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0009others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0044 others(27): Show |
36 | 39 | 0.9231 | -4 | c.-72 others(13): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 565 | chr2 | TogoVar | |||||||
ABCG8_chr2_43833971_43887988 | 43839403 | CTTTT | C | intron_variant | MODIFIER | HG00738.hp1 HG01070.hp1 HG01106.hp1 others(38): Show |
a0002a0003a0008others(3): Show | a0002c0003a0002c0004a0002c0026others(5): Show | a0002c0003t0002a0002c0003t0004a0002c0003t0005others(20): Show | a0002c0003t0002g0019 a0002c0003t0002g0197 a0002c0003t0002g0200 others(35): Show |
41 | 42 | 0.9762 | -4 | c.63+ others(17): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43845096 | GTGTA | G | intron_variant | MODIFIER | HG01256.hp1 HG01433.hp1 HG01496.hp2 others(8): Show |
a0002a0003a0006 | a0002c0003a0002c0004a0003c0002others(1): Show | a0002c0003t0004a0002c0003t0107a0002c0004t0009others(3): Show | a0002c0003t0004g0222 a0002c0003t0004g0223 a0002c0003t0107g0186 others(8): Show |
11 | 295 | 0.0373 | -4 | c.165 others(19): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43846988 | GTGCA | G | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp1 HG01099.hp1 others(12): Show |
a0003a0014 | a0003c0002a0003c0017a0014c0025 | a0003c0002t0018a0003c0002t0019a0003c0002t0021others(3): Show | a0003c0002t0018g0015 a0003c0002t0018g0158 a0003c0002t0018g0159 others(10): Show |
15 | 221 | 0.0679 | -4 | c.322 others(19): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 3/12 | chr2 | TogoVar | |||||||
ABCG8_chr2_43833971_43887988 | 43846990 | GCACA | G | intron_variant | MODIFIER | HG01074.hp2 HG01433.hp2 HG02027.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0030a0001c0001t0069a0003c0002t0002others(1): Show | a0001c0001t0030g0119 a0001c0001t0069g0129 a0003c0002t0002g0287 others(1): Show |
4 | 194 | 0.0206 | -4 | c.322 others(19): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43855961 | TCTCA | T | intron_variant | MODIFIER | HG01884.hp2 HG02809.hp2 HG03453.hp1 |
a0003 | a0003c0002 | a0003c0002t0042a0003c0002t0093 | a0003c0002t0042g0016 a0003c0002t0093g0161 |
3 | 316 | 0.0095 | -4 | c.964 others(21): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43859180 | ACTGT | A | intron_variant | MODIFIER | HG01346.hp2 HG02109.hp2 HG02486.hp1 others(10): Show |
a0003a0007a0009others(1): Show | a0003c0002a0007c0009a0007c0020others(2): Show | a0003c0002t0026a0007c0009t0022a0007c0009t0028others(5): Show | a0003c0002t0026g0041 a0007c0009t0022g0005 a0007c0009t0022g0032 others(9): Show |
13 | 316 | 0.0411 | -4 | c.964 others(21): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43865696 | AATAT | A | intron_variant | MODIFIER | HG01192.hp1 HG02895.hp2 HG03490.hp1 others(1): Show |
a0003 | a0003c0010 | a0003c0010t0020a0003c0010t0110 | a0003c0010t0020g0036 a0003c0010t0020g0037 a0003c0010t0020g0038 others(1): Show |
4 | 316 | 0.0127 | -4 | c.965 others(21): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 6/12 | chr2 | TogoVar | |||||||
ABCG8_chr2_43833971_43887988 | 43880332 | CCTGG | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00621.hp2 others(54): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0003a0003c0002others(10): Show | a0001c0001t0007a0001c0001t0031a0002c0003t0002others(19): Show | a0001c0001t0007g0010 a0001c0001t0007g0057 a0001c0001t0007g0089 others(51): Show |
57 | 316 | 0.1804 | -4 | c.*24 others(15): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 13/13 | 2422 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43884376 | AAAAT | A | downstream_gene_variant | MODIFIER | HG02647.hp1 HG02965.hp1 HG02976.hp2 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0003c0002others(3): Show | a0001c0001t0059a0002c0003t0012a0003c0002t0092others(4): Show | a0001c0001t0059g0133 a0002c0003t0012g0147 a0002c0003t0012g0177 others(6): Show |
10 | 81 | 0.1235 | -4 | c.*64 others(15): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 1389 | chr2 | TogoVar | |||||||
ABHD10_chr3_111974026_111998368 | 111981501 | CTCTG | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(74): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0007a0002c0002t0002 | a0001c0001t0002g0002 a0001c0001t0002g0023 a0001c0001t0002g0034 others(11): Show |
77 | 422 | 0.1825 | -4 | c.143 others(19): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD10_chr3_111974026_111998368 | 111983078 | TTTCA | T | intron_variant | MODIFIER | NA18950.hp1 NA18950.hp2 NA18953.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 422 | 0.0095 | -4 | c.326 others(21): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD10_chr3_111974026_111998368 | 111983559 | CTAAT | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00639.hp1 others(100): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(33): Show |
103 | 422 | 0.2441 | -4 | c.326 others(21): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD10_chr3_111974026_111998368 | 111993873 | CTAAA | C | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02818.hp1 HG02970.hp1 others(2): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0004a0005c0007t0004 | a0001c0001t0004g0021 a0001c0001t0004g0040 a0005c0007t0004g0039 |
5 | 422 | 0.0118 | -4 | c.*21 others(15): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 506 | chr3 | TogoVar | |||||||
ABHD11_chr7_73731094_73743802 | 73735739 | TGGAG | T | downstream_gene_variant | MODIFIER | HG03139.hp2 HG03516.hp2 NA19043.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0004 | 3 | 426 | 0.0070 | -4 | c.*81 others(13): Show |
ABHD11 | ENSG00000106077.19 | transcript | ENST00000222800.8 | protein_coding | 354 | chr7 | TogoVar | |||||||
ABHD11_chr7_73731094_73743802 | 73735750 | CTGCA | C | downstream_gene_variant | MODIFIER | HG03139.hp2 HG03516.hp2 NA19043.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0004 | 3 | 426 | 0.0070 | -4 | c.*80 others(13): Show |
ABHD11 | ENSG00000106077.19 | transcript | ENST00000222800.8 | protein_coding | 343 | chr7 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25298029 | CACTA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(204): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 others(201): Show |
207 | 314 | 0.6592 | -4 | c.*28 others(15): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2184 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25325203 | CAAAA | C | intron_variant | MODIFIER | HG01081.hp2 HG01169.hp1 HG01515.hp1 others(6): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0003a0001c0002t0006others(1): Show | a0001c0002t0002g0151 a0001c0002t0002g0177 a0001c0002t0002g0205 others(6): Show |
9 | 73 | 0.1233 | -4 | c.317 others(21): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25333065 | CTAAT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(148): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0004a0001c0001t0009a0001c0002t0002others(9): Show | a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0239 others(145): Show |
151 | 314 | 0.4809 | -4 | c.316 others(21): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25350959 | TCACA | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(48): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 others(48): Show |
51 | 81 | 0.6296 | -4 | c.192 others(23): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25359423 | CAAAA | C | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02280.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0004 a0001c0001t0005g0306 a0001c0001t0005g0307 others(5): Show |
9 | 146 | 0.0616 | -4 | c.192 others(23): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25376806 | AATGG | A | intron_variant | MODIFIER | HG01515.hp2 HG01975.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0287 a0001c0001t0009g0288 a0001c0001t0009g0289 others(1): Show |
4 | 314 | 0.0127 | -4 | c.191 others(23): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25385689 | TTAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(175): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0008others(12): Show | a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0229 others(171): Show |
178 | 314 | 0.5669 | -4 | c.191 others(21): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25390476 | GGCCC | G | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02109.hp2 others(11): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0008a0001c0003t0002 | a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0234 others(11): Show |
14 | 53 | 0.2642 | -4 | c.191 others(17): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25393537 | ATCTT | A | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01361.hp1 HG01891.hp1 others(15): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0001t0008a0001c0004t0004 | a0001c0001t0004g0229 a0001c0001t0004g0233 a0001c0001t0004g0234 others(15): Show |
18 | 314 | 0.0573 | -4 | c.-28 others(15): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2703 | chr20 | TogoVar | |||||||
ABHD13_chr13_108213392_108239243 | 108228270 | CTTTA | C | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02886.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0090 |
7 | 388 | 0.0180 | -4 | c.-20 others(19): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ABHD13_chr13_108213392_108239243 | 108233489 | ATTCT | A | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00609.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0014others(3): Show | a0001c0001t0004g0006 a0001c0001t0004g0011 a0001c0001t0004g0037 others(8): Show |
31 | 388 | 0.0799 | -4 | c.*32 others(15): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 2/2 | 3259 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ABHD15_chr17_29555547_29572037 | 29558344 | TTTCC | T | downstream_gene_variant | MODIFIER | HG00735.hp2 HG01074.hp2 HG01243.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0012 a0001c0002t0001g0045 a0002c0003t0001g0022 others(2): Show |
6 | 416 | 0.0144 | -4 | c.*42 others(15): Show |
ABHD15 | ENSG00000168792.5 | transcript | ENST00000307201.5 | protein_coding | 2202 | chr17 | TogoVar | |||||||
ABHD15_chr17_29555547_29572037 | 29558384 | TTTTC | T | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01192.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0002t0001g0011 others(7): Show |
13 | 416 | 0.0313 | -4 | c.*41 others(15): Show |
ABHD15 | ENSG00000168792.5 | transcript | ENST00000307201.5 | protein_coding | 2162 | chr17 | TogoVar | |||||||
ABHD16A_chr6_31681955_31708324 | 31705343 | CTATT | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(178): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0002 a0001c0001t0002g0003 a0001c0001t0002g0006 others(81): Show |
181 | 414 | 0.4372 | -4 | c.-20 others(15): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 2020 | chr6 | TogoVar | |||||||
ABHD16A_chr6_31681955_31708324 | 31706264 | CTTTT | C | upstream_gene_variant | MODIFIER | HG01074.hp1 HG02451.hp1 HG02451.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0003t0002a0001c0004t0002 | a0001c0001t0002g0038 a0001c0001t0002g0042 a0001c0001t0002g0043 others(3): Show |
6 | 181 | 0.0331 | -4 | c.-29 others(15): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 2941 | chr6 | TogoVar | |||||||
ABHD16B_chr20_63856498_63867988 | 63866088 | ATTTC | A | downstream_gene_variant | MODIFIER | HG01106.hp1 HG03688.hp1 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 386 | 0.0078 | -4 | c.*31 others(15): Show |
ABHD16B | ENSG00000183260.7 | transcript | ENST00000369916.5 | protein_coding | 3101 | chr20 | TogoVar |