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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCC5_chr3_183914934_184022884 | 183970439 | CTTTTT | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00544.hp1 others(109): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0013a0001c0023others(4): Show | a0001c0002t0001a0001c0002t0008a0001c0002t0009others(7): Show | a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0004 others(104): Show |
112 | 370 | 0.3027 | -5 | c.176 others(24): Show |
ABCC5 | ENSG00000114770.17 | transcript | ENST00000334444.11 | protein_coding | 11/29 | chr3 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16147227 | TTTTTG | T | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01256.hp1 HG01361.hp1 others(8): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0013a0002c0051others(2): Show | a0001c0001t0001a0002c0013t0001a0002c0051t0001others(2): Show | a0001c0001t0001g0239 a0001c0001t0001g0273 a0001c0001t0001g0341 others(8): Show |
11 | 356 | 0.0309 | -5 | c.*29 others(16): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 2337 | chr16 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16160628 | CAAAAA | C | intron_variant | MODIFIER | HG01346.hp1 HG01516.hp2 HG01884.hp2 others(16): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0026a0002c0003others(7): Show | a0001c0001t0001a0001c0026t0001a0002c0003t0001others(7): Show | a0001c0001t0001g0339 a0001c0026t0001g0272 a0002c0003t0001g0013 others(16): Show |
19 | 46 | 0.4130 | -5 | c.363 others(22): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 25/30 | chr16 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16170941 | AGAAAG | A | intron_variant | MODIFIER | HG00673.hp2 HG01496.hp1 HG01978.hp2 others(8): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0006a0002c0013others(6): Show | a0001c0002t0001a0001c0006t0001a0002c0013t0001others(6): Show | a0001c0002t0001g0025 a0001c0002t0001g0085 a0001c0002t0001g0332 others(8): Show |
11 | 328 | 0.0335 | -5 | c.278 others(24): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16191642 | CCTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(258): Show |
a0001a0002a0003others(33): Show | a0001c0001a0001c0002a0001c0004others(59): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(70): Show | a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0020 others(257): Show |
261 | 356 | 0.7331 | -5 | c.143 others(24): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 11/30 | chr16 | TogoVar | |||||||
ABCC6_chr16_16144565_16228494 | 16195303 | ATTTTT | A | intron_variant | MODIFIER | HG01928.hp1 HG02572.hp2 HG02723.hp2 others(5): Show |
a0001a0030 | a0001c0001a0001c0002a0001c0065others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(2): Show | a0001c0001t0001g0192 a0001c0001t0001g0335 a0001c0001t0004g0223 others(5): Show |
8 | 127 | 0.0630 | -5 | c.133 others(24): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 10/30 | chr16 | TogoVar | |||||||
ABCC8_chr11_17387885_17481845 | 17389839 | TAAAAA | T | downstream_gene_variant | MODIFIER | HG00673.hp2 HG02080.hp1 HG02257.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0013others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0013t0001others(3): Show | a0001c0001t0001g0074 a0001c0001t0001g0214 a0001c0001t0001g0246 others(10): Show |
13 | 59 | 0.2203 | -5 | c.*31 others(16): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 3045 | chr11 | TogoVar | |||||||
ABCC8_chr11_17387885_17481845 | 17450335 | TCTTTC | T | intron_variant | MODIFIER | HG00408.hp1 HG01169.hp2 HG01261.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(4): Show | a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 others(7): Show |
10 | 326 | 0.0307 | -5 | c.117 others(24): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 7/38 | chr11 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21821130 | ACTTTT | A | intron_variant | MODIFIER | HG02965.hp1 HG03486.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0018a0001c0002t0022 | a0001c0001t0018g0196 a0001c0002t0022g0182 |
2 | 210 | 0.0095 | -5 | c.367 others(24): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 31/39 | chr12 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21824875 | TTTCTC | T | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010 | a0001c0001t0005g0068 a0001c0001t0010g0069 a0001c0001t0010g0120 |
3 | 210 | 0.0143 | -5 | c.366 others(24): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 31/39 | chr12 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21841342 | GTTTCC | G | intron_variant | MODIFIER | HG01496.hp1 HG02559.hp2 HG02976.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0007 | a0001c0001t0001a0001c0003t0007a0002c0007t0001 | a0001c0001t0001g0149 a0001c0003t0007g0180 a0001c0003t0007g0204 others(2): Show |
5 | 60 | 0.0833 | -5 | c.347 others(22): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 29/39 | chr12 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21844293 | CTGAGT | C | intron_variant | MODIFIER | HG02647.hp2 HG02965.hp1 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0022a0001c0006t0005 | a0001c0002t0022g0182 a0001c0006t0005g0192 |
2 | 210 | 0.0095 | -5 | c.331 others(22): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 28/39 | chr12 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21875074 | AAAAAT | A | 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 | -5 | c.209 others(22): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 17/39 | chr12 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21892245 | GACACC | G | intron_variant | MODIFIER | HG01346.hp2 HG02735.hp1 HG03669.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0041 a0001c0001t0001g0053 |
3 | 210 | 0.0143 | -5 | c.180 others(24): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 14/39 | chr12 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21928430 | AAAAAG | A | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02257.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(9): Show |
12 | 210 | 0.0571 | -5 | c.285 others(22): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 4/39 | chr12 | TogoVar | |||||||
ABCD2_chr12_39545033_39624803 | 39551930 | GTTAAC | G | 3_prime_UTR_variant | MODIFIER | NA18939.hp2 NA18950.hp2 NA18957.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0012a0001c0001t0019a0004c0004t0012 | a0001c0001t0012g0190 a0001c0001t0019g0184 a0004c0004t0012g0023 |
4 | 338 | 0.0118 | -5 | c.*19 others(16): Show |
ABCD2 | ENSG00000173208.4 | transcript | ENST00000308666.4 | protein_coding | 10/10 | 1977 | chr12 | TogoVar | ||||||
ABCD3_chr1_94413389_94523663 | 94456255 | ATTTTT | A | intron_variant | MODIFIER | HG00423.hp2 HG00741.hp1 HG01106.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0038 others(26): Show |
29 | 47 | 0.6170 | -5 | c.111 others(22): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ABCD3_chr1_94413389_94523663 | 94480051 | TGAGAA | T | intron_variant | MODIFIER | HG02486.hp1 HG03225.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0022 | a0001c0001t0014g0189 a0001c0001t0014g0191 a0001c0001t0022g0190 |
3 | 360 | 0.0083 | -5 | c.685 others(20): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ABCD3_chr1_94413389_94523663 | 94489667 | TAAAAG | T | intron_variant | MODIFIER | HG02040.hp2 HG02155.hp1 HG02165.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0221 a0001c0001t0005g0222 a0001c0001t0005g0224 others(6): Show |
9 | 360 | 0.0250 | -5 | c.115 others(20): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 13/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74305330 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG02129.hp2 NA18948.hp2 NA18995.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 a0002c0002t0001g0076 a0002c0002t0001g0079 others(1): Show |
8 | 237 | 0.0338 | -5 | c.-24 others(16): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 2397 | chr14 | TogoVar | |||||||
ABCD4_chr14_74280269_74307934 | 74306157 | TATATA | T | upstream_gene_variant | MODIFIER | HG01192.hp2 HG03041.hp1 HG03139.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0011 a0001c0001t0002g0169 others(1): Show |
5 | 362 | 0.0138 | -5 | c.-32 others(16): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 3224 | chr14 | TogoVar | |||||||
ABCD4_chr14_74280269_74307934 | 74306159 | TATATA | T | upstream_gene_variant | MODIFIER | HG02015.hp2 NA18939.hp1 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0046 a0001c0001t0002g0152 |
3 | 362 | 0.0083 | -5 | c.-32 others(16): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 3226 | chr14 | TogoVar | |||||||
ABCD4_chr14_74280269_74307934 | 74306167 | TATATA | T | upstream_gene_variant | MODIFIER | HG01516.hp1 HG01981.hp2 HG03654.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 a0002c0002t0001g0054 a0002c0002t0001g0088 |
3 | 382 | 0.0079 | -5 | c.-32 others(16): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 3234 | chr14 | TogoVar | |||||||
ABCE1_chr4_145093311_145134524 | 145095666 | CAATAT | C | upstream_gene_variant | MODIFIER | HG02818.hp1 HG06807.hp2 |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0130 a0001c0004t0004g0131 |
2 | 258 | 0.0078 | -5 | c.-27 others(16): Show |
ABCE1 | ENSG00000164163.11 | transcript | ENST00000296577.9 | protein_coding | 2644 | chr4 | TogoVar | |||||||
ABCF1_chr6_30566442_30596522 | 30576075 | TAAAAA | T | intron_variant | MODIFIER | HG00639.hp2 HG02280.hp1 HG02451.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0206 a0001c0001t0001g0207 |
7 | 335 | 0.0209 | -5 | c.74- others(20): Show |
ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ABCF1_chr6_30566442_30596522 | 30587867 | TAAGTC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(285): Show |
a0001a0003a0004others(6): Show | a0001c0001a0003c0003a0004c0005others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(178): Show |
288 | 414 | 0.6957 | -5 | c.203 others(24): Show |
ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ABCF3_chr3_184181199_184199005 | 184187217 | AGTTTT | A | intron_variant | MODIFIER | HG00639.hp1 NA18955.hp1 NA18967.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0034 a0001c0001t0001g0046 |
6 | 399 | 0.0150 | -5 | c.302 others(20): Show |
ABCF3 | ENSG00000161204.12 | transcript | ENST00000429586.7 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88108151 | GTTAAT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(343): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(28): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0015 others(337): Show |
346 | 348 | 0.9943 | -5 | c.119 others(22): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 9/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88137012 | CAATAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00738.hp1 HG01884.hp2 others(32): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0011 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0110 a0001c0001t0001g0158 a0001c0001t0001g0189 others(31): Show |
35 | 143 | 0.2448 | -5 | c.203 others(22): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 2/15 | chr4 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43813708 | CGTTTT | C | intron_variant | MODIFIER | HG00738.hp1 HG01261.hp2 HG02132.hp2 others(9): Show |
a0001a0010 | a0001c0001a0001c0010a0010c0018 | a0001c0001t0004a0001c0010t0004a0010c0018t0004 | a0001c0001t0004g0021 a0001c0001t0004g0065 a0001c0001t0004g0096 others(8): Show |
12 | 320 | 0.0375 | -5 | c.176 others(22): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 12/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43828991 | CAAATA | C | intron_variant | MODIFIER | HG02559.hp1 HG02896.hp2 HG02897.hp2 others(4): Show |
a0001a0002a0013 | a0001c0001a0002c0002a0013c0008 | a0001c0001t0003a0002c0002t0002a0013c0008t0002 | a0001c0001t0003g0011 a0002c0002t0002g0010 a0002c0002t0002g0048 others(2): Show |
7 | 328 | 0.0213 | -5 | c.502 others(20): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 4/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43839403 | CTTTTT | C | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01884.hp1 others(14): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0003a0001c0001t0005a0002c0002t0002others(3): Show | a0001c0001t0003g0011 a0001c0001t0003g0064 a0001c0001t0003g0080 others(13): Show |
17 | 20 | 0.8500 | -5 | c.-72 others(14): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 565 | chr2 | TogoVar | |||||||
ABCG8_chr2_43833971_43887988 | 43839403 | CTTTTT | C | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01884.hp1 others(13): Show |
a0002a0003a0008 | a0002c0003a0002c0004a0003c0002others(2): Show | a0002c0003t0012a0002c0003t0098a0002c0003t0101others(9): Show | a0002c0003t0012g0177 a0002c0003t0098g0171 a0002c0003t0101g0178 others(12): Show |
16 | 17 | 0.9412 | -5 | c.63+ others(18): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43885063 | GTTTTT | G | downstream_gene_variant | MODIFIER | HG02647.hp2 HG02965.hp1 HG02976.hp2 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0002others(2): Show | a0001c0001t0059a0002c0003t0012a0003c0002t0092others(3): Show | a0001c0001t0059g0133 a0002c0003t0012g0147 a0002c0003t0012g0177 others(5): Show |
10 | 195 | 0.0513 | -5 | c.*71 others(16): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 2076 | chr2 | TogoVar | |||||||
ABHD10_chr3_111974026_111998368 | 111977353 | GATGAA | G | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01175.hp2 HG01243.hp1 others(5): Show |
a0001a0004 | a0001c0001a0001c0006a0004c0009 | a0001c0001t0003a0001c0006t0003a0004c0009t0003 | a0001c0001t0003g0009 a0001c0006t0003g0009 a0004c0009t0003g0009 |
8 | 422 | 0.0190 | -5 | c.-17 others(16): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 1672 | chr3 | TogoVar | |||||||
ABHD10_chr3_111974026_111998368 | 111981329 | AAAAAG | A | intron_variant | MODIFIER | HG01192.hp1 HG02109.hp1 HG02559.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 9 | 422 | 0.0213 | -5 | c.143 others(20): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD10_chr3_111974026_111998368 | 111992229 | TATATA | T | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG01175.hp2 HG01243.hp1 others(6): Show |
a0001a0004 | a0001c0001a0001c0006a0004c0009 | a0001c0001t0003a0001c0006t0003a0004c0009t0003 | a0001c0001t0003g0003 a0001c0001t0003g0009 a0001c0006t0003g0009 others(1): Show |
9 | 422 | 0.0213 | -5 | c.*51 others(14): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 5/5 | 519 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD10_chr3_111974026_111998368 | 111996313 | CCTACT | C | downstream_gene_variant | MODIFIER | HG02273.hp1 NA18941.hp2 NA18954.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0083 |
3 | 422 | 0.0071 | -5 | c.*45 others(16): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 2946 | chr3 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50884702 | CTTTTT | C | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02622.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0006 | a0002c0002t0005g0022 a0002c0002t0005g0153 a0002c0002t0005g0170 others(4): Show |
7 | 8 | 0.8750 | -5 | c.487 others(20): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25313578 | AAAAAT | A | intron_variant | MODIFIER | HG00544.hp2 HG02145.hp2 HG02559.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(1): Show | a0001c0001t0001g0080 a0001c0001t0004g0291 a0001c0002t0002g0172 others(4): Show |
7 | 57 | 0.1228 | -5 | c.619 others(22): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 6/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25359423 | CAAAAA | C | intron_variant | MODIFIER | HG00741.hp1 HG01109.hp1 HG02055.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0243 a0001c0003t0002g0248 a0001c0003t0002g0254 others(3): Show |
6 | 143 | 0.0420 | -5 | c.192 others(24): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25369927 | TAAAAA | T | intron_variant | MODIFIER | HG00544.hp1 HG01255.hp1 HG01496.hp1 others(27): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0002 a0001c0003t0002g0003 a0001c0003t0002g0253 others(25): Show |
30 | 58 | 0.5172 | -5 | c.191 others(24): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25382999 | GGCCCA | G | intron_variant | MODIFIER | HG02145.hp1 HG02717.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0286 |
3 | 314 | 0.0096 | -5 | c.191 others(22): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25390476 | GGCCCC | G | intron_variant | MODIFIER | HG00544.hp1 HG01496.hp1 HG01981.hp1 others(15): Show |
a0001a0005 | a0001c0003a0005c0008 | a0001c0003t0002a0005c0008t0002 | a0001c0003t0002g0002 a0001c0003t0002g0227 a0001c0003t0002g0247 others(15): Show |
18 | 57 | 0.3158 | -5 | c.191 others(18): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD13_chr13_108213392_108239243 | 108234020 | ATAAGT | A | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00642.hp1 HG00738.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0036 | a0001c0001t0002g0003 a0001c0001t0002g0020 a0001c0001t0002g0087 others(2): Show |
35 | 388 | 0.0902 | -5 | c.*37 others(16): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 2/2 | 3792 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ABHD17A_chr19_1871810_1890496 | 1874746 | CAAAAA | C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00597.hp2 others(67): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0002a0005c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(16): Show |
70 | 129 | 0.5426 | -5 | c.*24 others(16): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 2063 | chr19 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71872414 | TAAAAG | T | intron_variant | MODIFIER | HG02258.hp1 HG02970.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 3 | 184 | 0.0163 | -5 | c.468 others(22): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 2/3 | chr9 | TogoVar | |||||||
ABHD17C_chr15_80690310_80760621 | 80691331 | ATTTAC | A | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00733.hp1 HG00735.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0321 a0001c0001t0003g0320 a0001c0001t0003g0324 others(15): Show |
19 | 358 | 0.0531 | -5 | c.-40 others(16): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 3978 | chr15 | TogoVar | |||||||
ABHD17C_chr15_80690310_80760621 | 80693580 | TTAAAA | T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG03492.hp1 HG03831.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0050 others(1): Show |
5 | 322 | 0.0155 | -5 | c.-18 others(16): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1729 | chr15 | TogoVar | |||||||
ABHD18_chr4_127960406_128044953 | 127966702 | CAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG01993.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(6): Show | a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0199 others(10): Show |
13 | 62 | 0.2097 | -5 | c.-18 others(22): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |