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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABHD2_chr15_89083456_89207355 | 89156771 | T | TTG | intron_variant | MODIFIER | HG01109.hp1 HG02922.hp1 NA20129.hp1 |
a0001 | a0001c0007a0001c0008a0001c0009 | a0001c0007t0007a0001c0008t0001a0001c0009t0012 | a0001c0007t0007g0225a0001c0008t0001g0228a0001c0009t0012g0027 | 3 | 234 | 0.0128 | 2 | c.538 others(19): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89181228 | C | CAA | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG01891.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0016others(7): Show | a0001c0001t0003g0051a0001c0001t0003g0140a0001c0001t0008g0011others(15): Show | 18 | 234 | 0.0769 | 2 | c.723 others(19): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89183382 | A | AAT | intron_variant | MODIFIER | HG00741.hp1 HG02735.hp2 HG02922.hp1 others(7): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0029a0001c0009t0012 | a0001c0001t0001g0019a0001c0001t0001g0088a0001c0001t0001g0089others(7): Show | 10 | 234 | 0.0427 | 2 | c.723 others(19): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89183384 | A | AAT | intron_variant | MODIFIER | HG01361.hp1 HG02293.hp1 HG02602.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0025a0001c0001t0043 | a0001c0001t0001g0060a0001c0001t0001g0075a0001c0001t0001g0087others(5): Show | 8 | 234 | 0.0342 | 2 | c.723 others(19): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89205128 | T | TTC | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG01891.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0098a0001c0001t0001g0103a0001c0001t0001g0134others(8): Show | 11 | 234 | 0.0470 | 2 | c.*97 others(13): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2774 | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89205331 | C | CTT | downstream_gene_variant | MODIFIER | HG01361.hp2 HG01884.hp1 HG02055.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0055a0001c0001t0003g0056a0001c0001t0004g0092others(7): Show | 10 | 234 | 0.0427 | 2 | c.*99 others(13): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2977 | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89206003 | A | AGG | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG01099.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014a0001c0001t0034others(1): Show | a0001c0001t0002g0062a0001c0001t0002g0077a0001c0001t0002g0119others(6): Show | 9 | 234 | 0.0385 | 2 | c.*10 others(15): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3649 | chr15 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21648788 | C | CAA | downstream_gene_variant | MODIFIER | HG00621.hp1 HG01952.hp1 HG02074.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0043a0001c0001t0001g0047a0001c0001t0002g0147others(10): Show | 13 | 304 | 0.0428 | 2 | c.*28 others(13): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 2112 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21650441 | A | ATT | downstream_gene_variant | MODIFIER | HG02723.hp2 HG02818.hp2 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140a0001c0001t0002g0141a0001c0001t0002g0142others(1): Show | 4 | 304 | 0.0132 | 2 | c.*11 others(13): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 459 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21659656 | T | TAG | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00735.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0040a0001c0001t0001g0063others(29): Show | 33 | 304 | 0.1086 | 2 | c.669 others(17): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 5/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21661102 | T | TAA | intron_variant | MODIFIER | HG00438.hp1 HG01070.hp2 HG01243.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0004a0001c0001t0001g0121a0001c0001t0002g0005others(17): Show | 22 | 304 | 0.0724 | 2 | c.669 others(19): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 5/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21674228 | T | TTC | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(170): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0004a0001c0001t0001g0036a0001c0001t0001g0037others(168): Show | 173 | 304 | 0.5691 | 2 | c.555 others(19): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21680852 | A | ATG | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG01106.hp1 others(15): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0008others(14): Show | 18 | 304 | 0.0592 | 2 | c.555 others(19): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21680856 | G | GTA | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(125): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0036a0001c0001t0001g0037a0001c0001t0001g0038others(124): Show | 128 | 304 | 0.4211 | 2 | c.555 others(19): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21684311 | C | CTT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00741.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0004a0001c0001t0001g0040a0001c0001t0001g0107others(23): Show | 27 | 304 | 0.0888 | 2 | c.510 others(17): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21690996 | C | CAA | intron_variant | MODIFIER | HG01952.hp2 HG02258.hp1 HG02280.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0106a0001c0001t0001g0135a0001c0001t0002g0146others(8): Show | 11 | 304 | 0.0362 | 2 | c.510 others(19): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21700827 | C | CAA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(38): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0004a0001c0001t0001g0029a0001c0001t0001g0032others(37): Show | 41 | 304 | 0.1349 | 2 | c.509 others(19): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21700952 | C | CAA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(35): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0032a0001c0001t0001g0107others(34): Show | 38 | 304 | 0.1250 | 2 | c.509 others(19): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21703218 | A | ACC | intron_variant | MODIFIER | HG01070.hp2 HG01106.hp1 HG01169.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0008others(14): Show | 18 | 304 | 0.0592 | 2 | c.326 others(17): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 2/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21705555 | A | AAG | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(300): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(287): Show | 303 | 304 | 0.9967 | 2 | c.-89 others(11): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 782 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21709308 | A | ACT | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(179): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0004a0001c0001t0001g0016a0001c0001t0001g0029others(178): Show | 182 | 304 | 0.5987 | 2 | c.-46 others(13): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4535 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21709309 | C | CAA | upstream_gene_variant | MODIFIER | HG02451.hp2 HG02922.hp2 HG03195.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005a0001c0001t0002g0175a0001c0001t0002g0176others(1): Show | 5 | 304 | 0.0165 | 2 | c.-46 others(13): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4536 | chr18 | TogoVar | ||||||
ABHD4_chr14_22593300_22617963 | 22600829 | G | GGT | intron_variant | MODIFIER | HG00609.hp2 HG01099.hp2 HG01516.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0014a0001c0001t0001g0060a0001c0001t0001g0137others(6): Show | 16 | 424 | 0.0377 | 2 | c.24- others(15): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD4_chr14_22593300_22617963 | 22600831 | G | GGT | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG00642.hp1 others(42): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0058a0001c0001t0001g0147others(7): Show | 45 | 424 | 0.1061 | 2 | c.24- others(15): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD4_chr14_22593300_22617963 | 22608766 | A | ATC | intron_variant | MODIFIER | HG00280.hp1 HG01106.hp1 HG01256.hp1 others(47): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0004a0001c0002t0001a0001c0002t0003others(4): Show | a0001c0001t0004g0104a0001c0001t0004g0108a0001c0002t0001g0118others(28): Show | 50 | 424 | 0.1179 | 2 | c.753 others(17): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD4_chr14_22593300_22617963 | 22609287 | C | CGT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00438.hp2 others(116): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0079a0001c0001t0002g0003a0001c0001t0002g0004others(47): Show | 119 | 424 | 0.2807 | 2 | c.753 others(17): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD5_chr3_43685938_43727725 | 43694258 | C | CAA | intron_variant | MODIFIER | HG00408.hp1 HG00738.hp2 HG01070.hp2 others(47): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0003a0001c0001t0008a0001c0001t0011others(7): Show | a0001c0001t0003g0001a0001c0001t0003g0005a0001c0001t0003g0011others(25): Show | 50 | 286 | 0.1748 | 2 | c.47+ others(17): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD5_chr3_43685938_43727725 | 43715085 | C | CTG | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00621.hp1 others(96): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0011a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0009others(63): Show | 99 | 286 | 0.3462 | 2 | c.773 others(15): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58237678 | G | GCC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00558.hp2 others(100): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0011a0001c0001t0001g0016a0001c0001t0001g0017others(99): Show | 103 | 302 | 0.3411 | 2 | c.-32 others(11): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 113 | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58239987 | C | CAA | intron_variant | MODIFIER | HG01175.hp1 HG01192.hp1 HG01192.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0060a0001c0001t0001g0061others(13): Show | 17 | 302 | 0.0563 | 2 | c.-91 others(19): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58240731 | A | ATT | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG00738.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0154a0001c0001t0001g0159a0001c0001t0001g0160others(7): Show | 10 | 302 | 0.0331 | 2 | c.-91 others(19): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58252229 | G | GTT | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00733.hp2 others(105): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(99): Show | 108 | 302 | 0.3576 | 2 | c.-26 others(19): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58254851 | T | TAC | intron_variant | MODIFIER | HG01361.hp2 HG02615.hp2 HG02895.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0068a0001c0001t0004g0036a0001c0001t0004g0037others(2): Show | 5 | 302 | 0.0166 | 2 | c.-25 others(19): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58256076 | A | AAC | intron_variant | MODIFIER | HG01074.hp2 HG01358.hp2 HG01928.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0004a0001c0001t0002g0073a0001c0001t0002g0098others(9): Show | 13 | 302 | 0.0431 | 2 | c.-25 others(17): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58256110 | T | TAC | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(161): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(155): Show | 164 | 302 | 0.5431 | 2 | c.-25 others(17): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58257387 | C | CAG | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(257): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(250): Show | 260 | 302 | 0.8609 | 2 | c.119 others(17): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58264387 | G | GCA | intron_variant | MODIFIER | HG00733.hp1 HG01981.hp2 HG02055.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0001a0001c0001t0004g0036a0001c0001t0004g0050others(1): Show | 5 | 302 | 0.0166 | 2 | c.120 others(19): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58271766 | G | GTT | intron_variant | MODIFIER | HG00733.hp1 HG01361.hp2 HG02615.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0250a0001c0001t0001g0251a0001c0001t0001g0252others(6): Show | 9 | 302 | 0.0298 | 2 | c.523 others(17): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58297740 | C | CAA | downstream_gene_variant | MODIFIER | HG01106.hp1 HG01109.hp1 HG01255.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0020others(20): Show | 23 | 302 | 0.0762 | 2 | c.*39 others(13): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3007 | chr3 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17288572 | T | TAA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00558.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0010others(26): Show | 41 | 386 | 0.1062 | 2 | c.*40 others(13): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 3558 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17289411 | A | AAT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(53): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0007a0001c0001t0001g0027a0001c0001t0001g0028others(51): Show | 56 | 386 | 0.1451 | 2 | c.*32 others(13): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2719 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17290200 | G | GAA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(125): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0027others(103): Show | 128 | 386 | 0.3316 | 2 | c.*24 others(13): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 1930 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17295090 | A | ATT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(84): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0028others(65): Show | 87 | 386 | 0.2254 | 2 | c.762 others(17): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17298735 | C | CTT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00639.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0001g0242a0001c0001t0004g0021a0001c0001t0004g0086others(16): Show | 20 | 386 | 0.0518 | 2 | c.761 others(19): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17299234 | A | ACC | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00544.hp2 others(91): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0011a0001c0001t0001g0190a0001c0001t0001g0193others(75): Show | 94 | 386 | 0.2435 | 2 | c.761 others(19): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17299560 | C | CAA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00639.hp2 others(19): Show |
a0001a0003a0004 | a0001c0001a0001c0004a0003c0010others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(3): Show | a0001c0001t0001g0273a0001c0001t0004g0021a0001c0001t0004g0086others(18): Show | 22 | 386 | 0.0570 | 2 | c.761 others(19): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17301776 | T | TTG | intron_variant | MODIFIER | HG00639.hp1 HG01099.hp1 HG01884.hp1 others(10): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0037a0001c0001t0001g0276a0001c0001t0001g0277others(9): Show | 13 | 386 | 0.0337 | 2 | c.-8- others(15): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26743910 | A | ACT | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01346.hp1 HG01361.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0240a0001c0001t0001g0275a0001c0001t0002g0102others(31): Show | 34 | 358 | 0.0950 | 2 | c.*46 others(13): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2685 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26745845 | C | CAA | downstream_gene_variant | MODIFIER | HG00597.hp2 HG02027.hp1 HG02056.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037a0001c0001t0001g0132a0001c0001t0001g0133others(7): Show | 10 | 358 | 0.0279 | 2 | c.*27 others(13): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 750 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26761617 | C | CAT | intron_variant | MODIFIER | HG00140.hp2 HG01192.hp2 HG01261.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0027a0001c0001t0001g0227a0001c0001t0002g0102others(16): Show | 19 | 358 | 0.0531 | 2 | c.821 others(19): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar |