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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCB5_chr7_20610667_20762008 | 20679485 | A | AAAAAAAG | intron_variant | MODIFIER | HG00738.hp1 HG01243.hp1 HG02055.hp2 others(6): Show |
a0002a0007a0024others(6): Show | a0002c0003a0007c0016a0024c0073others(6): Show | a0002c0003t0003a0007c0016t0006a0024c0073t0017others(6): Show | a0002c0003t0003g0015a0007c0016t0006g0057a0024c0073t0017g0055others(6): Show | 9 | 360 | 0.0250 | 7 | c.170 others(26): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20704075 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(26): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0005a0003c0002others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(15): Show | a0001c0001t0001g0141a0001c0001t0001g0142a0001c0001t0001g0295others(26): Show | 29 | 360 | 0.0806 | 7 | c.233 others(24): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20707801 | C | CTTTTTTT | intron_variant | MODIFIER | HG01175.hp1 HG01928.hp2 HG02055.hp1 others(9): Show |
a0001a0003a0004others(6): Show | a0001c0001a0003c0002a0004c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0003c0002t0001others(8): Show | a0001c0001t0001g0329a0001c0001t0002g0087a0001c0001t0002g0146others(9): Show | 12 | 360 | 0.0333 | 7 | c.242 others(26): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB7_chrX_75046048_75161283 | 75047101 | A | ACACACAC | downstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 232 | 0.0043 | 7 | c.*62 others(18): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 3946 | chrX | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75094025 | T | TATATATA | intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 232 | 0.0043 | 7 | c.453 others(24): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 4/15 | chrX | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75104047 | G | GTTTTTTT | intron_variant | MODIFIER | HG02165.hp2 NA18984.hp1 NA18986.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0041others(1): Show | 4 | 232 | 0.0172 | 7 | c.334 others(24): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 3/15 | chrX | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75104048 | T | TTTTTTTG | intron_variant | MODIFIER | HG02451.hp2 HG02965.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0020 | a0001c0001t0001g0156a0001c0001t0009g0151a0001c0001t0020g0155 | 3 | 232 | 0.0129 | 7 | c.334 others(24): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 3/15 | chrX | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75115266 | C | CAAAAAAA | intron_variant | MODIFIER | HG02055.hp1 HG02615.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0014 | a0001c0001t0013g0230a0001c0001t0013g0231a0001c0001t0014g0159others(1): Show | 4 | 232 | 0.0172 | 7 | c.169 others(22): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 1/15 | chrX | TogoVar | ||||||
ABCC10_chr6_43422541_43455427 | 43429369 | T | TGTGTGTG | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02970.hp2 |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0002c0007t0002 | a0001c0001t0001g0120a0002c0007t0002g0118a0002c0007t0002g0119 | 3 | 342 | 0.0088 | 7 | c.161 others(24): Show |
ABCC10 | ENSG00000124574.15 | transcript | ENST00000372530.9 | protein_coding | 2/21 | chr6 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 15947947 | A | ACCTTCCT | upstream_gene_variant | MODIFIER | HG01496.hp2 HG02735.hp1 HG03492.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0139a0001c0002t0001g0234a0001c0002t0003g0233 | 3 | 249 | 0.0121 | 7 | c.-18 others(18): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1668 | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 15982803 | C | CAAAAAAA | intron_variant | MODIFIER | HG02055.hp2 HG02630.hp2 HG02895.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0008a0003c0025 | a0001c0001t0006a0001c0001t0010a0001c0001t0016others(3): Show | a0001c0001t0006g0096a0001c0001t0010g0120a0001c0001t0016g0018others(4): Show | 7 | 249 | 0.0281 | 7 | c.49- others(24): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC1_chr16_15944616_16148053 | 15999809 | C | CTCTCTCT | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG01978.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0003a0001c0002t0007others(2): Show | a0001c0001t0001g0216a0001c0002t0003g0014a0001c0002t0007g0037others(2): Show | 5 | 249 | 0.0201 | 7 | c.49- others(22): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16010037 | C | CTTTTTTT | intron_variant | MODIFIER | HG00544.hp1 HG00673.hp1 HG00673.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(4): Show | a0001c0001t0001g0070a0001c0001t0001g0160a0001c0001t0006g0167others(8): Show | 11 | 249 | 0.0442 | 7 | c.351 others(22): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC1_chr16_15944616_16148053 | 16034023 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00544.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0003a0001c0001t0017a0001c0002t0001others(14): Show | a0001c0001t0003g0061a0001c0001t0017g0023a0001c0002t0001g0139others(34): Show | 37 | 249 | 0.1486 | 7 | c.677 others(22): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 6/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC1_chr16_15944616_16148053 | 16125739 | G | GAAAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG01168.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0005a0001c0001t0008a0001c0002t0001others(4): Show | a0001c0001t0005g0101a0001c0001t0008g0002a0001c0002t0001g0028others(7): Show | 10 | 249 | 0.0402 | 7 | c.371 others(22): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 25/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC1_chr16_15944616_16148053 | 16132510 | G | GTTTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG01928.hp2 HG01934.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0004others(4): Show | a0001c0001t0001g0084a0001c0001t0004g0247a0001c0002t0004g0192others(5): Show | 8 | 249 | 0.0321 | 7 | c.396 others(24): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 27/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC1_chr16_15944616_16148053 | 16139611 | C | CAAAAAAA | intron_variant | MODIFIER | HG00639.hp1 HG02109.hp2 HG02135.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0010a0001c0001t0011a0001c0001t0014others(5): Show | a0001c0001t0010g0042a0001c0001t0010g0087a0001c0001t0010g0120others(7): Show | 10 | 249 | 0.0402 | 7 | c.448 others(26): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 30/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC3_chr17_50629881_50697253 | 50651066 | G | GAAAAAAA | intron_variant | MODIFIER | HG00735.hp2 HG02615.hp1 HG02976.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0031a0001c0001t0001g0251a0001c0001t0001g0308others(8): Show | 11 | 342 | 0.0322 | 7 | c.46- others(22): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ABCC3_chr17_50629881_50697253 | 50671702 | C | CTTTTTTT | intron_variant | MODIFIER | HG00621.hp2 HG01081.hp1 HG02055.hp1 others(6): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0005a0005c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0003c0005t0002others(2): Show | a0001c0001t0001g0189a0001c0001t0002g0096a0001c0001t0002g0292others(6): Show | 9 | 342 | 0.0263 | 7 | c.224 others(26): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ABCC4_chr13_95014835_95306451 | 95037084 | C | CAAAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG01433.hp1 others(7): Show |
a0001a0002 | a0001c0010a0001c0014a0001c0022others(5): Show | a0001c0010t0007a0001c0014t0007a0001c0022t0022others(5): Show | a0001c0010t0007g0180a0001c0014t0007g0170a0001c0014t0007g0191others(7): Show | 10 | 248 | 0.0403 | 7 | c.373 others(26): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 29/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95047476 | C | CTTTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG01169.hp2 HG02155.hp1 others(15): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(12): Show | a0001c0001t0001g0206a0001c0001t0005g0044a0001c0002t0001g0181others(15): Show | 18 | 248 | 0.0726 | 7 | c.345 others(26): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 27/30 | chr13 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16152192 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(75): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0004a0001c0006others(16): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(20): Show | a0001c0001t0001g0039a0001c0001t0001g0069a0001c0001t0001g0079others(75): Show | 78 | 357 | 0.2185 | 7 | c.420 others(26): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 29/30 | chr16 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16174759 | A | ACCCCCCC | intron_variant | MODIFIER | HG01256.hp2 HG02451.hp1 NA18947.hp2 others(6): Show |
a0001a0005a0015 | a0001c0001a0001c0004a0005c0031others(1): Show | a0001c0001t0001a0001c0004t0001a0005c0031t0001others(1): Show | a0001c0001t0001g0160a0001c0001t0001g0165a0001c0001t0001g0227others(6): Show | 9 | 357 | 0.0252 | 7 | c.266 others(26): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 20/30 | chr16 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16174760 | A | ACCCCCCC | intron_variant | MODIFIER | HG00639.hp1 HG00673.hp2 HG01257.hp1 others(11): Show |
a0001a0005a0009others(2): Show | a0001c0002a0001c0026a0005c0012others(3): Show | a0001c0002t0001a0001c0026t0001a0005c0012t0001others(3): Show | a0001c0002t0001g0010a0001c0002t0001g0085a0001c0002t0001g0093others(11): Show | 14 | 357 | 0.0392 | 7 | c.266 others(26): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 20/30 | chr16 | TogoVar | ||||||
ABCC6_chr16_16144565_16228494 | 16227415 | T | TGACATCC | upstream_gene_variant | MODIFIER | HG00597.hp2 HG02135.hp1 HG02155.hp2 others(11): Show |
a0001a0005a0020others(1): Show | a0001c0001a0001c0002a0005c0012others(2): Show | a0001c0001t0001a0001c0002t0001a0005c0012t0001others(2): Show | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0142others(11): Show | 14 | 357 | 0.0392 | 7 | c.-39 others(18): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 3922 | chr16 | TogoVar | ||||||
ABCC8_chr11_17387885_17481845 | 17415065 | G | GAAGAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(318): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0003a0001c0004others(78): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(85): Show | a0001c0001t0001g0057a0001c0001t0001g0058a0001c0001t0001g0059others(314): Show | 321 | 330 | 0.9727 | 7 | c.229 others(24): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 18/38 | chr11 | TogoVar | ||||||
ABCC8_chr11_17387885_17481845 | 17450685 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00609.hp1 others(60): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0001c0006others(21): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(22): Show | a0001c0001t0001g0076a0001c0001t0001g0173a0001c0003t0001g0030others(60): Show | 63 | 330 | 0.1909 | 7 | c.117 others(26): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 7/38 | chr11 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21816036 | G | GTTTTTTT | intron_variant | MODIFIER | HG00738.hp1 HG01433.hp1 HG03516.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0050a0001c0001t0001g0103a0001c0001t0001g0166others(2): Show | 5 | 212 | 0.0236 | 7 | c.389 others(24): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 33/39 | chr12 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74280649 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(184): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0004a0001c0008others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0012others(104): Show | 187 | 384 | 0.4870 | 7 | c.*58 others(18): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 4619 | chr14 | TogoVar | ||||||
ABCF1_chr6_30566442_30596522 | 30576276 | C | CTTTTTTT | intron_variant | MODIFIER | HG00544.hp2 HG01358.hp2 HG02135.hp2 others(14): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0003a0003c0004t0001 | a0001c0001t0001g0007a0001c0001t0001g0199a0001c0001t0001g0200others(7): Show | 17 | 415 | 0.0410 | 7 | c.74- others(22): Show |
ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ABCF3_chr3_184181199_184199005 | 184191739 | G | GTTCCTTT | intron_variant | MODIFIER | HG01257.hp1 HG01261.hp2 HG02055.hp1 others(7): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0008 | 10 | 416 | 0.0240 | 7 | c.156 others(24): Show |
ABCF3 | ENSG00000161204.12 | transcript | ENST00000429586.7 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABCG2_chr4_88085269_88163639 | 88125607 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG01261.hp2 HG02615.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0080a0001c0001t0001g0165a0001c0001t0001g0170others(4): Show | 7 | 350 | 0.0200 | 7 | c.532 others(24): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 5/15 | chr4 | TogoVar | ||||||
ABCG4_chr11_119144052_119167653 | 119147517 | G | GGAAGGAA | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00438.hp2 others(50): Show |
a0001 | a0001c0001a0001c0009a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0009t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0013others(15): Show | 53 | 388 | 0.1366 | 7 | c.-18 others(18): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 1534 | chr11 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43887143 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00621.hp1 HG01106.hp2 HG01884.hp1 others(11): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0003a0003c0002others(3): Show | a0001c0001t0010a0002c0003t0045a0002c0003t0094others(7): Show | a0001c0001t0010g0011a0001c0001t0010g0117a0002c0003t0045g0169others(10): Show | 14 | 318 | 0.0440 | 7 | c.*92 others(18): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 4156 | chr2 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25322382 | T | TATATATA | intron_variant | MODIFIER | HG01167.hp2 HG01361.hp1 HG01891.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0004t0004 | a0001c0001t0004g0266a0001c0001t0004g0276a0001c0001t0004g0280others(5): Show | 8 | 316 | 0.0253 | 7 | c.422 others(22): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25359423 | C | CAAAAAAA | intron_variant | MODIFIER | HG01167.hp2 HG01361.hp1 HG01891.hp1 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0004t0004 | a0001c0001t0004g0266a0001c0001t0004g0276a0001c0001t0004g0280others(6): Show | 9 | 316 | 0.0285 | 7 | c.192 others(26): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25360227 | C | CTTTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00733.hp2 others(20): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0006 | a0001c0002t0002a0001c0002t0007a0001c0003t0002others(1): Show | a0001c0002t0002g0140a0001c0002t0002g0141a0001c0002t0002g0142others(20): Show | 23 | 316 | 0.0728 | 7 | c.192 others(26): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25387589 | T | TAAAAAAA | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG01891.hp1 others(15): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0001t0005a0001c0001t0009others(1): Show | a0001c0001t0004g0266a0001c0001t0004g0276a0001c0001t0004g0280others(14): Show | 18 | 316 | 0.0570 | 7 | c.191 others(24): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25387590 | T | TAAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp2 others(80): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0008a0004c0009t0001 | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(80): Show | 83 | 316 | 0.2627 | 7 | c.191 others(24): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD13_chr13_108213392_108239243 | 108215424 | C | CGCCCCTA | upstream_gene_variant | MODIFIER | HG00544.hp1 HG01081.hp2 HG01243.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(3): Show | a0001c0001t0001g0013a0001c0001t0001g0020a0001c0001t0001g0023others(14): Show | 41 | 390 | 0.1051 | 7 | c.-32 others(18): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 2967 | chr13 | TogoVar | ||||||
ABHD15_chr17_29555547_29572037 | 29568662 | G | GGGGGCGC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(62): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0005a0001c0001t0001g0012a0001c0001t0001g0034others(25): Show | 65 | 418 | 0.1555 | 7 | c.-16 others(18): Show |
ABHD15 | ENSG00000168792.5 | transcript | ENST00000307201.5 | protein_coding | 1626 | chr17 | TogoVar | ||||||
ABHD16A_chr6_31681955_31708324 | 31694387 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(85): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0012others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0003t0002others(2): Show | a0001c0001t0002g0003a0001c0001t0002g0016a0001c0001t0002g0027others(35): Show | 88 | 417 | 0.2110 | 7 | c.430 others(22): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 5/19 | chr6 | TogoVar | ||||||
ABHD17A_chr19_1871810_1890496 | 1874746 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG01192.hp2 HG01243.hp1 HG02723.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0005a0001c0001t0002g0014a0001c0001t0004g0027 | 12 | 416 | 0.0289 | 7 | c.*24 others(18): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 2063 | chr19 | TogoVar | ||||||
ABHD1_chr2_27118815_27135812 | 27134629 | C | CGCGCACT | downstream_gene_variant | MODIFIER | HG02451.hp2 HG03209.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 3 | 400 | 0.0075 | 7 | c.*38 others(18): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 3818 | chr2 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89170080 | C | CTTTTTTT | intron_variant | MODIFIER | HG02486.hp2 HG02559.hp2 HG02572.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(3): Show | a0001c0001t0001g0204a0001c0001t0006g0165a0001c0001t0011g0171others(3): Show | 6 | 234 | 0.0256 | 7 | c.539 others(24): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89183384 | A | ATATATAT | intron_variant | MODIFIER | HG02622.hp1 NA18939.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097a0001c0001t0001g0113 | 2 | 234 | 0.0086 | 7 | c.723 others(24): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | chr15 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21653077 | A | AAAAAAAG | intron_variant | MODIFIER | HG01081.hp2 HG01358.hp2 HG01891.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0041a0001c0001t0002g0150a0001c0001t0002g0153others(15): Show | 18 | 304 | 0.0592 | 7 | c.105 others(26): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 8/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21668217 | A | AAAAAAAG | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00735.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0040a0001c0001t0001g0063a0001c0001t0001g0066others(24): Show | 27 | 304 | 0.0888 | 7 | c.556 others(24): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58271766 | G | GTTTTTTT | intron_variant | MODIFIER | HG00741.hp1 HG01106.hp1 HG02486.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0227a0001c0001t0001g0228a0001c0001t0001g0237others(3): Show | 6 | 302 | 0.0199 | 7 | c.523 others(22): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58282217 | G | GCCAGGAA | intron_variant | MODIFIER | HG02559.hp2 HG02572.hp2 HG02896.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0239a0001c0001t0008g0240a0001c0001t0008g0249others(3): Show | 6 | 302 | 0.0199 | 7 | c.682 others(24): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |