regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCC6_chr16_16144565_16228494 | 16149372 | T | TACACAC | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01099.hp1 HG02683.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0180a0001c0001t0001g0188a0001c0002t0001g0068others(3): Show | 6 | 357 | 0.0168 | 6 | c.*76 others(15): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 192 | chr16 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16152192 | C | CAAAAAA | intron_variant | MODIFIER | HG01106.hp2 HG01358.hp2 HG02040.hp1 others(9): Show |
a0001a0002a0014others(4): Show | a0001c0001a0001c0004a0002c0057others(5): Show | a0001c0001t0001a0001c0004t0001a0002c0057t0001others(5): Show | a0001c0001t0001g0020a0001c0001t0001g0089a0001c0001t0001g0108others(9): Show | 12 | 357 | 0.0336 | 6 | c.420 others(25): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 29/30 | chr16 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16174760 | A | ACCCCCC | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG01099.hp2 others(22): Show |
a0001a0004a0005others(3): Show | a0001c0002a0004c0017a0005c0012others(3): Show | a0001c0002t0001a0001c0002t0002a0004c0017t0001others(4): Show | a0001c0002t0001g0014a0001c0002t0001g0023a0001c0002t0001g0024others(22): Show | 25 | 357 | 0.0700 | 6 | c.266 others(25): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 20/30 | chr16 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16196209 | C | CAAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(38): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(11): Show | a0001c0001t0001g0003a0001c0001t0001g0135a0001c0001t0001g0136others(38): Show | 41 | 357 | 0.1149 | 6 | c.133 others(25): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 10/30 | chr16 | TogoVar | ||||||
ABCC8_chr11_17387885_17481845 | 17423356 | C | CAAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG00642.hp1 HG00733.hp1 others(28): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(11): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(11): Show | a0001c0001t0001g0181a0001c0003t0001g0082a0001c0003t0001g0088others(27): Show | 31 | 330 | 0.0939 | 6 | c.222 others(25): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 16/38 | chr11 | TogoVar | ||||||
ABCC8_chr11_17387885_17481845 | 17434984 | C | CGCGTGT | intron_variant | MODIFIER | HG01496.hp1 HG02135.hp2 HG02738.hp1 others(6): Show |
a0001a0002a0004 | a0001c0003a0001c0006a0001c0028others(2): Show | a0001c0003t0001a0001c0006t0001a0001c0028t0001others(2): Show | a0001c0003t0001g0030a0001c0003t0001g0118a0001c0006t0001g0044others(6): Show | 9 | 330 | 0.0273 | 6 | c.163 others(25): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 10/38 | chr11 | TogoVar | ||||||
ABCC8_chr11_17387885_17481845 | 17434984 | C | CGTGTGT | intron_variant | MODIFIER | HG00639.hp2 HG01074.hp1 HG01123.hp1 others(15): Show |
a0001a0002 | a0001c0008a0001c0014a0001c0020others(3): Show | a0001c0008t0001a0001c0014t0002a0001c0020t0001others(3): Show | a0001c0008t0001g0039a0001c0008t0001g0040a0001c0008t0001g0047others(14): Show | 18 | 330 | 0.0546 | 6 | c.163 others(25): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 10/38 | chr11 | TogoVar | ||||||
ABCC8_chr11_17387885_17481845 | 17450260 | C | CTTTCTT | intron_variant | MODIFIER | HG02257.hp1 HG02293.hp1 HG02896.hp2 |
a0001 | a0001c0015a0001c0019a0001c0020 | a0001c0015t0001a0001c0019t0001a0001c0020t0001 | a0001c0015t0001g0022a0001c0019t0001g0321a0001c0020t0001g0043 | 3 | 330 | 0.0091 | 6 | c.117 others(25): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 7/38 | chr11 | TogoVar | ||||||
ABCC8_chr11_17387885_17481845 | 17450685 | C | CTTTTTT | intron_variant | MODIFIER | HG01496.hp1 HG02559.hp1 HG03225.hp2 others(7): Show |
a0001 | a0001c0003a0001c0004a0001c0006others(5): Show | a0001c0003t0001a0001c0004t0002a0001c0006t0001others(5): Show | a0001c0003t0001g0164a0001c0004t0002g0012a0001c0006t0001g0044others(7): Show | 10 | 330 | 0.0303 | 6 | c.117 others(25): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 7/38 | chr11 | TogoVar | ||||||
ABCC8_chr11_17387885_17481845 | 17467042 | C | CCACACA | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(55): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0004a0001c0006others(24): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(26): Show | a0001c0001t0001g0068a0001c0001t0001g0182a0001c0001t0001g0273others(55): Show | 58 | 330 | 0.1758 | 6 | c.412 others(23): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 3/38 | chr11 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21818458 | A | ATATATC | intron_variant | MODIFIER | HG02109.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011 | a0001c0001t0005g0067a0001c0001t0005g0175a0001c0001t0011g0068others(1): Show | 4 | 212 | 0.0189 | 6 | c.367 others(23): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 31/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21818526 | A | ATGTGTG | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp2 HG02622.hp2 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0012 | a0001c0001t0002a0001c0001t0004a0001c0001t0014others(2): Show | a0001c0001t0002g0033a0001c0001t0002g0126a0001c0001t0002g0202others(7): Show | 10 | 212 | 0.0472 | 6 | c.367 others(23): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 31/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21827527 | A | AACACAC | intron_variant | MODIFIER | HG00621.hp2 HG01175.hp1 HG01891.hp1 others(11): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(1): Show | a0001c0001t0001g0013a0001c0001t0001g0030a0001c0001t0001g0045others(11): Show | 14 | 212 | 0.0660 | 6 | c.366 others(25): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 31/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21834784 | T | TACACAC | intron_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108a0001c0001t0001g0123 | 2 | 212 | 0.0094 | 6 | c.356 others(25): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 30/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21834786 | T | TACACAC | intron_variant | MODIFIER | HG01981.hp2 HG02027.hp1 NA18962.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098a0001c0001t0001g0116a0001c0001t0001g0118 | 3 | 212 | 0.0142 | 6 | c.356 others(25): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 30/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21834786 | T | TATACAC | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01074.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(20): Show | 23 | 212 | 0.1085 | 6 | c.356 others(25): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 30/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21881707 | A | AACACAC | intron_variant | MODIFIER | HG01168.hp1 HG01175.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0132a0001c0001t0001g0159a0001c0001t0014g0071 | 3 | 212 | 0.0142 | 6 | c.201 others(25): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 16/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21884782 | T | TAAAGAG | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(165): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(164): Show | 168 | 212 | 0.7925 | 6 | c.191 others(25): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 15/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21915225 | A | ATGTGTG | intron_variant | MODIFIER | HG02486.hp1 HG02572.hp1 HG02647.hp2 others(5): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(2): Show | a0001c0001t0001g0044a0001c0001t0001g0069a0001c0001t0005g0067others(5): Show | 8 | 212 | 0.0377 | 6 | c.816 others(21): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 7/39 | chr12 | TogoVar | ||||||
ABCD1_chrX_153719856_153749755 | 153724402 | C | CGCCCCT | upstream_gene_variant | MODIFIER | HG02083.hp1 HG02523.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0028 | 2 | 285 | 0.0070 | 6 | c.-86 others(15): Show |
ABCD1 | ENSG00000101986.12 | transcript | ENST00000218104.6 | protein_coding | 453 | chrX | TogoVar | ||||||
ABCD3_chr1_94413389_94523663 | 94421562 | A | ATGTGTG | intron_variant | MODIFIER | HG00621.hp2 HG01256.hp1 HG01884.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0014a0001c0001t0003g0347a0001c0001t0003g0348others(14): Show | 17 | 362 | 0.0470 | 6 | c.110 others(23): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94438301 | T | TACACAC | intron_variant | MODIFIER | HG01884.hp1 HG01981.hp2 HG02004.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0028 | a0001c0001t0001g0014a0001c0001t0001g0020a0001c0001t0001g0039others(15): Show | 18 | 362 | 0.0497 | 6 | c.110 others(25): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD4_chr14_74280269_74307934 | 74280649 | C | CAAAAAA | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01070.hp1 HG01071.hp2 others(36): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0025others(24): Show | 39 | 384 | 0.1016 | 6 | c.*58 others(17): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 4619 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74306574 | T | TTGTGTG | upstream_gene_variant | MODIFIER | HG03098.hp1 HG03486.hp1 HG03516.hp1 others(1): Show |
a0001a0003 | a0001c0004a0003c0003 | a0001c0004t0001a0003c0003t0013 | a0001c0004t0001g0090a0001c0004t0001g0091a0001c0004t0001g0092others(1): Show | 4 | 384 | 0.0104 | 6 | c.-36 others(17): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 3641 | chr14 | TogoVar | ||||||
ABCF1_chr6_30566442_30596522 | 30576276 | C | CTTTTTT | intron_variant | MODIFIER | HG00597.hp1 HG01074.hp1 HG01106.hp2 others(24): Show |
a0001a0003a0011 | a0001c0001a0003c0004a0011c0008 | a0001c0001t0001a0003c0004t0001a0011c0008t0001 | a0001c0001t0001g0005a0001c0001t0001g0050a0001c0001t0001g0128others(16): Show | 27 | 415 | 0.0651 | 6 | c.74- others(21): Show |
ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ABCF1_chr6_30566442_30596522 | 30593527 | T | TTATATA | downstream_gene_variant | MODIFIER | NA18945.hp2 NA18955.hp1 NA18963.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0022a0001c0001t0001g0043others(4): Show | 13 | 415 | 0.0313 | 6 | c.*28 others(17): Show |
ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 2006 | chr6 | TogoVar | ||||||
ABCF3_chr3_184181199_184199005 | 184197845 | T | TTGTGTG | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00544.hp1 others(53): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0001others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(17): Show | 56 | 416 | 0.1346 | 6 | c.*41 others(17): Show |
ABCF3 | ENSG00000161204.12 | transcript | ENST00000429586.7 | protein_coding | 3841 | chr3 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42219222 | C | CCCGCCG | 5_prime_UTR_variant | MODIFIER | HG01069.hp1 HG01109.hp2 HG02630.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0017a0001c0001t0028others(1): Show | a0001c0001t0012g0140a0001c0001t0012g0141a0001c0001t0012g0307others(4): Show | 8 | 354 | 0.0226 | 6 | c.-14 others(12): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 1/15 | 8 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
ABCG1_chr21_42214140_42302244 | 42268362 | G | GGTGTGT | intron_variant | MODIFIER | HG01257.hp1 HG01257.hp2 HG01258.hp1 others(15): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0334a0001c0001t0002g0180a0001c0001t0002g0188others(14): Show | 18 | 354 | 0.0509 | 6 | c.287 others(23): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG1_chr21_42214140_42302244 | 42268388 | T | TGCGCGC | intron_variant | MODIFIER | HG02818.hp1 HG02922.hp1 NA18522.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0002t0002 | a0001c0001t0003g0153a0001c0001t0004g0339a0001c0002t0002g0282others(1): Show | 4 | 354 | 0.0113 | 6 | c.287 others(23): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG1_chr21_42214140_42302244 | 42270259 | C | CAAAAAA | intron_variant | MODIFIER | HG01884.hp2 HG02630.hp2 HG02818.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0338a0001c0001t0002g0090a0001c0001t0002g0277others(5): Show | 9 | 354 | 0.0254 | 6 | c.287 others(21): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG2_chr4_88085269_88163639 | 88125607 | C | CAAAAAA | intron_variant | MODIFIER | HG01175.hp1 HG01256.hp1 HG01433.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0014a0002c0002t0002 | a0001c0001t0001g0003a0001c0001t0001g0071a0001c0001t0001g0096others(16): Show | 20 | 350 | 0.0571 | 6 | c.532 others(23): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 5/15 | chr4 | TogoVar | ||||||
ABCG4_chr11_119144052_119167653 | 119147426 | A | AAGAGAG | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG01256.hp2 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0037a0001c0001t0002g0039a0001c0001t0002g0087others(15): Show | 56 | 388 | 0.1443 | 6 | c.-19 others(17): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 1625 | chr11 | TogoVar | ||||||
ABCG4_chr11_119144052_119167653 | 119147518 | A | AAAGAAG | upstream_gene_variant | MODIFIER | HG00423.hp2 HG02015.hp1 HG02015.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0039a0001c0001t0003g0003a0001c0001t0003g0030others(6): Show | 18 | 388 | 0.0464 | 6 | c.-18 others(17): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 1533 | chr11 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43822477 | G | GCCGCCC | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG06807.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0002 | a0001c0001t0003g0010a0002c0002t0002g0009 | 4 | 330 | 0.0121 | 6 | c.146 others(23): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 10/12 | chr2 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43833363 | A | ATATTAT | intron_variant | MODIFIER | HG00438.hp2 HG01070.hp2 HG01071.hp1 others(13): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0015others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(5): Show | a0001c0001t0001g0011a0001c0001t0001g0051a0001c0001t0001g0057others(11): Show | 16 | 330 | 0.0485 | 6 | c.266 others(23): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43843188 | A | AGCTTTT | upstream_gene_variant | MODIFIER | HG03130.hp2 HG03195.hp1 NA19240.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0190a0002c0002t0002g0200a0002c0002t0002g0201 | 3 | 330 | 0.0091 | 6 | c.-45 others(17): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 4350 | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43843188 | A | AGCTTTT | intron_variant | MODIFIER | HG03130.hp2 HG03195.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0037a0001c0001t0064 | a0001c0001t0015g0057a0001c0001t0037g0056a0001c0001t0064g0133 | 3 | 318 | 0.0094 | 6 | c.64- others(21): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43846990 | G | GCACACA | intron_variant | MODIFIER | HG02572.hp1 HG02647.hp2 HG02895.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0010a0003c0011 | a0001c0001t0010a0001c0001t0038a0003c0010t0123others(2): Show | a0001c0001t0010g0118a0001c0001t0038g0052a0001c0001t0038g0053others(4): Show | 8 | 318 | 0.0252 | 6 | c.322 others(21): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABHD10_chr3_111974026_111998368 | 111977308 | T | TACACAC | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(66): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0007a0002c0002t0002 | a0001c0001t0002g0002a0001c0001t0002g0035a0001c0001t0002g0082others(9): Show | 69 | 424 | 0.1627 | 6 | c.-17 others(17): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 1717 | chr3 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50882973 | C | CAAAAAA | intron_variant | MODIFIER | HG00609.hp2 HG01261.hp1 HG01261.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0005t0004a0002c0002t0002others(1): Show | a0001c0001t0001g0030a0001c0001t0001g0223a0001c0001t0001g0247others(4): Show | 7 | 376 | 0.0186 | 6 | c.486 others(23): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD12_chr20_25295214_25395835 | 25313784 | G | GCAAAAC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(173): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0009others(13): Show | a0001c0001t0004g0224a0001c0001t0004g0225a0001c0001t0004g0266others(172): Show | 176 | 316 | 0.5570 | 6 | c.619 others(23): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 6/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25359423 | C | CAAAAAA | intron_variant | MODIFIER | HG01515.hp2 HG01975.hp1 HG02145.hp2 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0001t0010a0001c0005t0004 | a0001c0001t0004g0267a0001c0001t0004g0284a0001c0001t0004g0285others(5): Show | 8 | 316 | 0.0253 | 6 | c.192 others(25): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25360227 | C | CTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(22): Show |
a0001a0003 | a0001c0002a0001c0003a0003c0007 | a0001c0002t0002a0001c0002t0003a0001c0002t0007others(2): Show | a0001c0002t0002g0143a0001c0002t0002g0145a0001c0002t0002g0153others(22): Show | 25 | 316 | 0.0791 | 6 | c.192 others(25): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25366276 | C | CTTTTCT | intron_variant | MODIFIER | HG02145.hp1 HG02717.hp1 HG02809.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0284a0001c0001t0004g0285a0001c0001t0004g0287others(2): Show | 5 | 316 | 0.0158 | 6 | c.191 others(25): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25387590 | T | TAAAAAA | intron_variant | MODIFIER | HG01256.hp2 HG01257.hp1 HG02132.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0046a0001c0001t0001g0047others(7): Show | 10 | 316 | 0.0317 | 6 | c.191 others(23): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD14A_chr3_51970064_51986196 | 51981894 | C | CAAAAAA | downstream_gene_variant | MODIFIER | HG02602.hp2 HG02723.hp2 HG03491.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0013others(1): Show | 7 | 344 | 0.0204 | 6 | c.*87 others(15): Show |
ABHD14A | ENSG00000248487.10 | transcript | ENST00000273596.8 | protein_coding | 699 | chr3 | TogoVar | ||||||
ABHD16A_chr6_31681955_31708324 | 31694387 | C | CTTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00673.hp1 others(58): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0002 | a0001c0001t0002g0011a0001c0001t0002g0019a0001c0001t0002g0020others(24): Show | 61 | 417 | 0.1463 | 6 | c.430 others(21): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 5/19 | chr6 | TogoVar | ||||||
ABHD17A_chr19_1871810_1890496 | 1874746 | C | CAAAAAA | downstream_gene_variant | MODIFIER | HG02683.hp2 HG03225.hp1 HG03225.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0032a0001c0001t0002g0005others(1): Show | 13 | 416 | 0.0313 | 6 | c.*24 others(17): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 2063 | chr19 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80713900 | C | CCACACA | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG01175.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(23): Show | 26 | 360 | 0.0722 | 6 | c.590 others(25): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |