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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCG8_chr2_43833971_43887988 | 43880649 | A | AGT | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp1 others(101): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0003a0002c0024others(5): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0009others(40): Show | a0001c0001t0004g0008a0001c0001t0004g0009a0001c0001t0004g0047others(95): Show | 104 | 318 | 0.3270 | 2 | c.*27 others(13): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 13/13 | 2752 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
ABCG8_chr2_43833971_43887988 | 43880663 | T | TGC | 3_prime_UTR_variant | MODIFIER | HG01255.hp2 HG01884.hp1 HG02055.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0002c0003others(3): Show | a0001c0001t0060a0001c0008t0054a0001c0008t0058others(4): Show | a0001c0001t0060g0087a0001c0008t0054g0141a0001c0008t0058g0068others(4): Show | 7 | 318 | 0.0220 | 2 | c.*27 others(13): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 13/13 | 2767 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
ABCG8_chr2_43833971_43887988 | 43881707 | C | CAA | 3_prime_UTR_variant | MODIFIER | HG01175.hp2 HG01433.hp2 HG01884.hp2 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0002c0004others(3): Show | a0001c0001t0037a0002c0003t0103a0002c0004t0042others(5): Show | a0001c0001t0037g0056a0001c0001t0037g0121a0002c0003t0103g0019others(11): Show | 15 | 318 | 0.0472 | 2 | c.*38 others(13): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 13/13 | 3813 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
ABHD10_chr3_111974026_111998368 | 111975246 | G | GTA | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01106.hp1 HG01168.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0007a0001c0001t0001g0010a0001c0001t0001g0019others(8): Show | 32 | 424 | 0.0755 | 2 | c.-38 others(13): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 3779 | chr3 | TogoVar | ||||||
ABHD10_chr3_111974026_111998368 | 111977308 | T | TAC | upstream_gene_variant | MODIFIER | HG01884.hp2 HG03516.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 3 | 424 | 0.0071 | 2 | c.-17 others(13): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 1717 | chr3 | TogoVar | ||||||
ABHD10_chr3_111974026_111998368 | 111992234 | A | ATT | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(75): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0007a0002c0002t0002 | a0001c0001t0002g0002a0001c0001t0002g0024a0001c0001t0002g0035others(11): Show | 78 | 424 | 0.1840 | 2 | c.*51 others(11): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 5/5 | 514 | chr3 | TogoVar | |||||
ABHD10_chr3_111974026_111998368 | 111992728 | C | CAT | 3_prime_UTR_variant | MODIFIER | NA19059.hp1 NA19067.hp2 NA19089.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0002 | 3 | 424 | 0.0071 | 2 | c.*10 others(13): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 5/5 | 1017 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
ABHD11_chr7_73731094_73743802 | 73733662 | A | AAC | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(212): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(12): Show | 215 | 428 | 0.5023 | 2 | c.*28 others(13): Show |
ABHD11 | ENSG00000106077.19 | transcript | ENST00000222800.8 | protein_coding | 2431 | chr7 | TogoVar | ||||||
ABHD11_chr7_73731094_73743802 | 73734468 | A | AAT | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(61): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0002a0001c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0002t0002g0002others(2): Show | 64 | 428 | 0.1495 | 2 | c.*20 others(13): Show |
ABHD11 | ENSG00000106077.19 | transcript | ENST00000222800.8 | protein_coding | 1625 | chr7 | TogoVar | ||||||
ABHD11_chr7_73731094_73743802 | 73739743 | C | CTT | upstream_gene_variant | MODIFIER | HG00597.hp2 HG02257.hp2 HG03225.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 10 | 428 | 0.0234 | 2 | c.-97 others(11): Show |
ABHD11 | ENSG00000106077.19 | transcript | ENST00000222800.8 | protein_coding | 942 | chr7 | TogoVar | ||||||
ABHD11_chr7_73731094_73743802 | 73739744 | A | ATT | upstream_gene_variant | MODIFIER | HG01361.hp2 HG01891.hp1 HG02148.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0018others(1): Show | 10 | 428 | 0.0234 | 2 | c.-97 others(11): Show |
ABHD11 | ENSG00000106077.19 | transcript | ENST00000222800.8 | protein_coding | 943 | chr7 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50870746 | T | TGC | upstream_gene_variant | MODIFIER | HG01099.hp1 HG01358.hp2 HG02809.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0005t0004a0002c0002t0002 | a0001c0001t0001g0006a0001c0001t0001g0189a0001c0005t0004g0347others(2): Show | 5 | 376 | 0.0133 | 2 | c.-14 others(13): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1306 | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50870957 | A | AAG | upstream_gene_variant | MODIFIER | HG01975.hp2 HG02809.hp2 NA20129.hp2 |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0008 | a0001c0001t0001a0003c0003t0001a0005c0008t0002 | a0001c0001t0001g0006a0003c0003t0001g0298a0005c0008t0002g0305 | 3 | 376 | 0.0080 | 2 | c.-12 others(13): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1095 | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50870965 | A | AAG | upstream_gene_variant | MODIFIER | HG01257.hp2 HG01361.hp2 HG01515.hp2 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0002a0003c0003t0001 | a0001c0001t0001g0182a0002c0002t0002g0029a0002c0002t0002g0202others(1): Show | 4 | 376 | 0.0106 | 2 | c.-12 others(13): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1087 | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50870969 | A | AAG | upstream_gene_variant | MODIFIER | HG01243.hp2 HG01433.hp2 HG02602.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0003a0003c0012 | a0001c0001t0001a0003c0003t0001a0003c0012t0001 | a0001c0001t0001g0185a0001c0001t0001g0190a0001c0001t0001g0296others(3): Show | 6 | 376 | 0.0160 | 2 | c.-12 others(13): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1083 | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50870973 | A | AAG | upstream_gene_variant | MODIFIER | HG01943.hp1 HG03579.hp2 NA20905.hp1 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0002a0003c0003t0001 | a0001c0001t0001g0077a0002c0002t0002g0163a0003c0003t0001g0334 | 3 | 376 | 0.0080 | 2 | c.-12 others(13): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1079 | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAA | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(47): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0013others(6): Show | a0001c0001t0001a0001c0006t0001a0001c0006t0013others(10): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0025others(46): Show | 50 | 376 | 0.1330 | 2 | c.-11 others(13): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50870987 | A | AAG | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG01070.hp1 others(24): Show |
a0001a0002a0005 | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0005t0004a0002c0002t0002others(2): Show | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0124others(23): Show | 27 | 376 | 0.0718 | 2 | c.-11 others(13): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1065 | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50870991 | A | AAG | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp2 others(36): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0005t0004others(7): Show | a0001c0001t0001g0025a0001c0001t0001g0133a0001c0001t0001g0144others(35): Show | 39 | 376 | 0.1037 | 2 | c.-11 others(13): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1061 | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50870995 | A | AAG | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01261.hp2 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0013others(3): Show | a0001c0001t0001a0001c0006t0001a0001c0013t0003others(4): Show | a0001c0001t0001g0011a0001c0001t0001g0030a0001c0006t0001g0241others(9): Show | 13 | 376 | 0.0346 | 2 | c.-11 others(13): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1057 | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50870999 | A | AAG | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02896.hp2 HG02976.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0004 | a0001c0001t0001a0001c0006t0001a0002c0004t0006 | a0001c0001t0001g0233a0001c0006t0001g0129a0001c0006t0001g0176others(1): Show | 4 | 376 | 0.0106 | 2 | c.-11 others(13): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1053 | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50873222 | C | CTT | intron_variant | MODIFIER | HG00597.hp1 HG01943.hp1 HG01975.hp1 others(32): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0014a0001c0005t0004others(3): Show | a0001c0001t0001g0021a0001c0001t0001g0316a0001c0001t0001g0322others(31): Show | 35 | 376 | 0.0931 | 2 | c.104 others(17): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD12B_chr14_50867053_50909970 | 50874599 | C | CAA | intron_variant | MODIFIER | HG01070.hp1 HG01074.hp1 HG01106.hp2 others(4): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0002c0002t0002a0002c0004t0002others(1): Show | a0001c0001t0001g0121a0001c0001t0001g0124a0001c0001t0001g0316others(4): Show | 7 | 376 | 0.0186 | 2 | c.104 others(19): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD12B_chr14_50867053_50909970 | 50877866 | C | CAA | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(130): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0004others(21): Show | a0001c0001t0001g0011a0001c0001t0001g0025a0001c0001t0001g0032others(122): Show | 133 | 376 | 0.3537 | 2 | c.105 others(15): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD12B_chr14_50867053_50909970 | 50881563 | C | CTT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(297): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(278): Show | 300 | 376 | 0.7979 | 2 | c.456 others(15): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD12B_chr14_50867053_50909970 | 50882373 | C | CTT | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00544.hp2 others(71): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0005t0004a0001c0006t0001others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0013a0001c0001t0001g0016others(65): Show | 74 | 376 | 0.1968 | 2 | c.486 others(17): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD12B_chr14_50867053_50909970 | 50883951 | C | CTA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(355): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(334): Show | 358 | 376 | 0.9521 | 2 | c.487 others(19): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD12B_chr14_50867053_50909970 | 50908020 | C | CAA | downstream_gene_variant | MODIFIER | HG01261.hp2 HG01891.hp1 HG02145.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0004a0002c0002t0002a0002c0002t0005others(2): Show | a0001c0001t0004g0318a0002c0002t0002g0045a0002c0002t0002g0084others(6): Show | 9 | 376 | 0.0239 | 2 | c.*36 others(13): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 3051 | chr14 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25299090 | C | CTG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(260): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(14): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(259): Show | 263 | 316 | 0.8323 | 2 | c.*17 others(13): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1123 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25342103 | C | CAA | intron_variant | MODIFIER | HG01167.hp2 HG01891.hp1 HG02145.hp1 others(12): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0001t0009a0001c0004t0004 | a0001c0001t0004g0266a0001c0001t0004g0276a0001c0001t0004g0280others(12): Show | 15 | 316 | 0.0475 | 2 | c.192 others(19): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25350959 | T | TCA | intron_variant | MODIFIER | HG01496.hp2 HG01943.hp1 HG02083.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0030a0001c0001t0001g0066a0001c0001t0001g0092others(4): Show | 7 | 316 | 0.0222 | 2 | c.192 others(21): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25359423 | C | CAA | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG01069.hp1 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0033a0001c0001t0001g0034others(42): Show | 45 | 316 | 0.1424 | 2 | c.192 others(21): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25360227 | C | CTT | intron_variant | MODIFIER | HG01361.hp1 HG02723.hp1 HG02895.hp2 others(11): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0003t0002others(3): Show | a0001c0001t0001g0114a0001c0001t0004g0282a0001c0003t0002g0229others(11): Show | 14 | 316 | 0.0443 | 2 | c.192 others(21): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25370849 | C | CTT | intron_variant | MODIFIER | HG01167.hp2 HG01361.hp1 HG01891.hp1 others(18): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(1): Show | a0001c0001t0001g0039a0001c0001t0001g0061a0001c0001t0001g0134others(18): Show | 21 | 316 | 0.0665 | 2 | c.191 others(21): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25381626 | C | CTT | intron_variant | MODIFIER | HG02145.hp2 HG02559.hp1 HG02809.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0002t0011a0001c0003t0011others(1): Show | a0001c0001t0004g0267a0001c0001t0004g0291a0001c0002t0011g0301others(3): Show | 6 | 316 | 0.0190 | 2 | c.191 others(19): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25383954 | C | CAA | intron_variant | MODIFIER | HG01081.hp2 HG01175.hp2 HG01256.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003a0001c0002t0007others(1): Show | a0001c0002t0002g0148a0001c0002t0002g0149a0001c0002t0002g0150others(7): Show | 10 | 316 | 0.0317 | 2 | c.191 others(19): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25383968 | A | AAG | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(31): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0140a0001c0002t0002g0141a0001c0002t0002g0142others(31): Show | 34 | 316 | 0.1076 | 2 | c.191 others(19): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25384402 | T | TAC | intron_variant | MODIFIER | HG01071.hp1 HG01256.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057a0001c0001t0001g0079a0001c0001t0001g0101 | 3 | 316 | 0.0095 | 2 | c.191 others(19): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25388038 | C | CAA | intron_variant | MODIFIER | HG00544.hp1 HG02055.hp2 HG02109.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0002a0001c0003t0006others(1): Show | a0001c0001t0004g0289a0001c0001t0004g0291a0001c0003t0002g0246others(12): Show | 15 | 316 | 0.0475 | 2 | c.191 others(19): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25388789 | T | TTC | intron_variant | MODIFIER | HG00544.hp1 HG01109.hp1 HG01255.hp1 others(44): Show |
a0001a0005 | a0001c0003a0005c0008 | a0001c0003t0002a0001c0003t0006a0005c0008t0002 | a0001c0003t0002g0226a0001c0003t0002g0227a0001c0003t0002g0228others(44): Show | 47 | 316 | 0.1487 | 2 | c.191 others(19): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25390476 | G | GCC | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00438.hp2 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0064a0001c0001t0001g0065a0001c0001t0001g0066others(49): Show | 53 | 316 | 0.1677 | 2 | c.191 others(15): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25391727 | C | CTT | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00741.hp1 HG00741.hp2 others(20): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(3): Show | a0001c0001t0001g0054a0001c0001t0001g0058a0001c0001t0001g0063others(20): Show | 23 | 316 | 0.0728 | 2 | c.-10 others(13): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 893 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25393470 | C | CAA | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01192.hp1 HG01934.hp1 others(23): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(3): Show | a0001c0001t0001g0042a0001c0001t0001g0050a0001c0001t0001g0056others(22): Show | 26 | 316 | 0.0823 | 2 | c.-27 others(13): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2636 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25394237 | C | CAA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(138): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0002c0006others(2): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0007others(7): Show | a0001c0002t0002g0140a0001c0002t0002g0141a0001c0002t0002g0142others(138): Show | 141 | 316 | 0.4462 | 2 | c.-35 others(13): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3403 | chr20 | TogoVar | ||||||
ABHD13_chr13_108213392_108239243 | 108215416 | C | CCA | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01952.hp1 HG02145.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0031others(3): Show | 7 | 390 | 0.0180 | 2 | c.-32 others(13): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 2975 | chr13 | TogoVar | ||||||
ABHD13_chr13_108213392_108239243 | 108230401 | C | CTG | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00609.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0014others(6): Show | a0001c0001t0004g0006a0001c0001t0004g0011a0001c0001t0004g0038others(11): Show | 35 | 390 | 0.0897 | 2 | c.*17 others(11): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 2/2 | 171 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||
ABHD13_chr13_108213392_108239243 | 108233714 | T | TAC | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00642.hp1 HG00738.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0036 | a0001c0001t0002g0003a0001c0001t0002g0021a0001c0001t0002g0089others(2): Show | 35 | 390 | 0.0897 | 2 | c.*34 others(13): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 2/2 | 3490 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||
ABHD13_chr13_108213392_108239243 | 108236682 | A | ATT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00609.hp1 others(30): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0009others(18): Show | 33 | 390 | 0.0846 | 2 | c.*64 others(13): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 2440 | chr13 | TogoVar | ||||||
ABHD14A_chr3_51970064_51986196 | 51981894 | C | CAA | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01106.hp1 HG01167.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0005t0001a0002c0002t0002 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0005t0001g0002others(3): Show | 20 | 344 | 0.0581 | 2 | c.*87 others(11): Show |
ABHD14A | ENSG00000248487.10 | transcript | ENST00000273596.8 | protein_coding | 699 | chr3 | TogoVar | ||||||
ABHD15_chr17_29555547_29572037 | 29558399 | C | CTT | downstream_gene_variant | MODIFIER | HG02074.hp2 HG02080.hp2 HG02572.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(5): Show | 8 | 418 | 0.0191 | 2 | c.*41 others(13): Show |
ABHD15 | ENSG00000168792.5 | transcript | ENST00000307201.5 | protein_coding | 2147 | chr17 | TogoVar |