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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABHD18_chr4_127960406_128044953 | 127979915 | C | CAAA | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(63): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0022a0002c0002t0001others(20): Show | a0001c0001t0002g0221a0001c0001t0002g0230a0001c0001t0002g0238others(63): Show | 66 | 344 | 0.1919 | 3 | c.-17 others(20): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 128008261 | C | CTTT | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00597.hp2 others(25): Show |
a0002a0003a0006 | a0002c0002a0003c0003a0006c0007 | a0002c0002t0001a0002c0002t0014a0002c0002t0020others(7): Show | a0002c0002t0001g0270a0002c0002t0001g0278a0002c0002t0001g0279others(25): Show | 28 | 344 | 0.0814 | 3 | c.279 others(18): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 128042197 | A | AAAC | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02257.hp1 others(11): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0022a0001c0001t0035a0001c0001t0036others(5): Show | a0001c0001t0022g0337a0001c0001t0022g0339a0001c0001t0022g0340others(11): Show | 14 | 344 | 0.0407 | 3 | c.*63 others(14): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 2245 | chr4 | TogoVar | ||||||
ABHD1_chr2_27118815_27135812 | 27127553 | C | CAAA | intron_variant | MODIFIER | HG00738.hp1 HG02922.hp1 HG02970.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012a0002c0002t0001g0039a0002c0002t0001g0120 | 6 | 400 | 0.0150 | 3 | c.115 others(18): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89100284 | A | ATTT | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02258.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(5): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0028others(8): Show | 11 | 234 | 0.0470 | 3 | c.-10 others(24): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89133834 | A | ATTT | intron_variant | MODIFIER | HG00438.hp1 HG01070.hp1 HG01081.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0004a0001c0001t0001g0018a0001c0001t0001g0019others(31): Show | 34 | 234 | 0.1453 | 3 | c.194 others(22): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89159766 | A | ATCC | intron_variant | MODIFIER | HG02004.hp1 HG02602.hp2 HG02717.hp2 others(17): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0060a0001c0001t0001g0075a0001c0001t0001g0087others(17): Show | 20 | 234 | 0.0855 | 3 | c.538 others(20): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 5/10 | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89170080 | C | CTTT | intron_variant | MODIFIER | HG00280.hp2 HG01099.hp1 HG01256.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0030a0001c0001t0001g0046a0001c0001t0001g0072others(19): Show | 22 | 234 | 0.0940 | 3 | c.539 others(20): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89181228 | C | CAAA | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02258.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0016a0001c0001t0033others(3): Show | a0001c0001t0001g0052a0001c0001t0016g0066a0001c0001t0033g0164others(5): Show | 8 | 234 | 0.0342 | 3 | c.723 others(20): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89183382 | A | ATAT | intron_variant | MODIFIER | NA19240.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0183 | 2 | 234 | 0.0086 | 3 | c.723 others(20): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89183384 | A | ATAT | intron_variant | MODIFIER | HG02273.hp1 HG02273.hp2 HG03704.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0026 | a0001c0001t0001g0110a0001c0001t0001g0172a0001c0001t0001g0185others(1): Show | 4 | 234 | 0.0171 | 3 | c.723 others(20): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89205128 | T | TTTC | downstream_gene_variant | MODIFIER | HG02572.hp1 HG02717.hp1 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0065a0001c0001t0004g0150a0001c0001t0004g0220 | 3 | 234 | 0.0128 | 3 | c.*97 others(14): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2774 | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89206003 | A | AGGG | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01070.hp2 HG02040.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0002a0001c0001t0005a0001c0001t0020others(2): Show | a0001c0001t0002g0050a0001c0001t0002g0054a0001c0001t0002g0055others(13): Show | 16 | 234 | 0.0684 | 3 | c.*10 others(16): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3649 | chr15 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21661102 | T | TAAA | intron_variant | MODIFIER | HG00323.hp1 HG00735.hp2 HG00741.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0118a0001c0001t0001g0119a0001c0001t0001g0120others(17): Show | 20 | 304 | 0.0658 | 3 | c.669 others(20): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 5/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21678628 | T | TACC | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(193): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0004a0001c0001t0001g0036a0001c0001t0001g0037others(191): Show | 196 | 304 | 0.6447 | 3 | c.555 others(20): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21683177 | C | CCAA | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(155): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0036a0001c0001t0001g0037a0001c0001t0001g0038others(154): Show | 158 | 304 | 0.5197 | 3 | c.555 others(18): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21684311 | C | CTTT | intron_variant | MODIFIER | HG00735.hp2 HG02055.hp2 HG02647.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0122a0001c0001t0001g0126a0001c0001t0001g0129others(3): Show | 6 | 304 | 0.0197 | 3 | c.510 others(18): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21689549 | C | CAAA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG01070.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0004a0001c0001t0001g0040a0001c0001t0001g0106others(25): Show | 29 | 304 | 0.0954 | 3 | c.510 others(20): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21700827 | C | CAAA | intron_variant | MODIFIER | HG00741.hp1 HG01891.hp2 HG02132.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0002 | a0001c0001t0001g0110a0001c0001t0001g0127a0001c0001t0001g0128others(7): Show | 10 | 304 | 0.0329 | 3 | c.509 others(20): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21700952 | C | CAAA | intron_variant | MODIFIER | HG00741.hp1 HG01891.hp2 HG02055.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0001g0132others(8): Show | 11 | 304 | 0.0362 | 3 | c.509 others(20): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | ||||||
ABHD5_chr3_43685938_43727725 | 43694258 | C | CAAA | intron_variant | MODIFIER | HG02056.hp1 HG02074.hp1 HG02738.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0024 | a0001c0001t0003g0045a0001c0001t0003g0165a0001c0001t0003g0166others(6): Show | 9 | 286 | 0.0315 | 3 | c.47+ others(18): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58240731 | A | ATTT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00544.hp2 others(155): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0014others(150): Show | 158 | 302 | 0.5232 | 3 | c.-91 others(20): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58252229 | G | GTTT | intron_variant | MODIFIER | HG01175.hp1 HG01192.hp2 HG01952.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0001g0011a0001c0001t0001g0014a0001c0001t0001g0018others(34): Show | 37 | 302 | 0.1225 | 3 | c.-26 others(20): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58267904 | A | ACTC | intron_variant | MODIFIER | HG01952.hp1 HG01978.hp1 HG02273.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193a0001c0001t0001g0206a0001c0001t0001g0207others(1): Show | 4 | 302 | 0.0133 | 3 | c.276 others(18): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58296118 | C | CGGA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(265): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(258): Show | 268 | 302 | 0.8874 | 3 | c.*23 others(14): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 1385 | chr3 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17289411 | A | AAAT | downstream_gene_variant | MODIFIER | HG00408.hp2 HG01074.hp1 HG01192.hp1 others(33): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0010 | a0001c0001t0001a0001c0001t0006a0001c0001t0015others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0013others(22): Show | 36 | 386 | 0.0933 | 3 | c.*32 others(14): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2719 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17290200 | G | GAAA | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00544.hp2 others(87): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0011a0001c0001t0001g0221a0001c0001t0001g0232others(70): Show | 90 | 386 | 0.2332 | 3 | c.*24 others(14): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 1930 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17293098 | C | CTTT | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp2 HG02615.hp2 others(9): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0005a0001c0006t0005 | a0001c0001t0002g0123a0001c0001t0002g0127a0001c0001t0002g0129others(7): Show | 12 | 386 | 0.0311 | 3 | c.115 others(20): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17295090 | A | ATTT | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG00642.hp2 others(64): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0012a0001c0001t0001g0027a0001c0001t0001g0199others(56): Show | 67 | 386 | 0.1736 | 3 | c.762 others(18): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17298735 | C | CTTT | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01361.hp1 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(1): Show | a0001c0001t0001g0221a0001c0001t0004g0122a0001c0001t0004g0132others(8): Show | 11 | 386 | 0.0285 | 3 | c.761 others(20): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17299234 | A | ACCC | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00639.hp2 others(27): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0212a0001c0001t0002g0093a0001c0001t0004g0086others(26): Show | 30 | 386 | 0.0777 | 3 | c.761 others(20): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17305038 | T | TGGA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(73): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(10): Show | a0001c0001t0001g0190a0001c0001t0006g0291a0001c0001t0008g0009others(62): Show | 76 | 386 | 0.1969 | 3 | c.-18 others(14): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 1614 | chr19 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26747021 | A | ACTT | 3_prime_UTR_variant | MODIFIER | HG01261.hp2 HG01981.hp1 HG02738.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0076a0001c0001t0007g0083a0001c0001t0007g0089others(3): Show | 6 | 358 | 0.0168 | 3 | c.*15 others(14): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 11/11 | 1548 | chr10 | TogoVar | |||||
ABI1_chr10_26741596_26865958 | 26757204 | G | GTAC | intron_variant | MODIFIER | HG01123.hp1 HG02109.hp1 HG02559.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0277a0001c0001t0003g0278a0001c0001t0003g0279others(5): Show | 8 | 358 | 0.0224 | 3 | c.998 others(20): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 8/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26788912 | C | CAAA | intron_variant | MODIFIER | HG00735.hp1 HG01243.hp1 HG02083.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0074a0001c0001t0001g0164a0001c0001t0001g0231others(8): Show | 11 | 358 | 0.0307 | 3 | c.286 others(22): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26791068 | C | CAAA | intron_variant | MODIFIER | HG01243.hp2 HG02015.hp2 HG02615.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0003a0001c0001t0003g0004a0001c0001t0003g0005others(7): Show | 10 | 358 | 0.0279 | 3 | c.286 others(22): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26816785 | C | CATA | intron_variant | MODIFIER | HG00438.hp2 HG02015.hp1 HG02135.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013 | a0001c0001t0003g0011a0001c0001t0003g0285a0001c0001t0003g0286others(29): Show | 32 | 358 | 0.0894 | 3 | c.285 others(20): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26816986 | T | TGTG | intron_variant | MODIFIER | HG01099.hp2 HG02056.hp2 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0160a0001c0001t0002g0183a0001c0001t0002g0190 | 3 | 358 | 0.0084 | 3 | c.285 others(20): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26821243 | T | TAAA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00642.hp1 others(56): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0273a0001c0001t0002g0261a0001c0001t0003g0328others(56): Show | 59 | 358 | 0.1648 | 3 | c.285 others(20): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26835106 | A | AAAC | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00642.hp1 others(27): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0001g0127a0001c0001t0001g0129a0001c0001t0001g0140others(27): Show | 30 | 358 | 0.0838 | 3 | c.118 others(22): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26839666 | A | AAAT | intron_variant | MODIFIER | HG02015.hp2 HG02109.hp2 HG02135.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008 | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0019others(13): Show | 16 | 358 | 0.0447 | 3 | c.118 others(22): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26843453 | C | CAAA | intron_variant | MODIFIER | HG00544.hp2 HG01346.hp2 HG01433.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024a0001c0001t0002g0025a0001c0001t0002g0149others(13): Show | 16 | 358 | 0.0447 | 3 | c.117 others(22): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26843485 | A | AAAT | intron_variant | MODIFIER | HG00280.hp2 HG01167.hp1 HG01168.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0151a0001c0001t0002g0153a0001c0001t0002g0156others(7): Show | 10 | 358 | 0.0279 | 3 | c.117 others(22): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26851348 | A | ATTT | intron_variant | MODIFIER | HG00544.hp1 HG01123.hp2 HG01952.hp1 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0044a0001c0001t0001g0047a0001c0001t0001g0052others(38): Show | 41 | 358 | 0.1145 | 3 | c.117 others(20): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26853234 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(35): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0104a0001c0001t0001g0123a0001c0001t0001g0124others(35): Show | 38 | 358 | 0.1062 | 3 | c.117 others(20): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26856433 | C | CAAA | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG00735.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0013a0001c0001t0001g0027a0001c0001t0001g0034others(14): Show | 17 | 358 | 0.0475 | 3 | c.117 others(20): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26865383 | T | TAAA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(153): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0013a0001c0001t0001g0028a0001c0001t0001g0029others(153): Show | 156 | 358 | 0.4358 | 3 | c.-45 others(14): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 4426 | chr10 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203344540 | T | TTTG | intron_variant | MODIFIER | HG01081.hp1 HG02080.hp1 NA18962.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010a0001c0001t0029 | a0001c0001t0002g0048a0001c0001t0002g0055a0001c0001t0002g0097others(5): Show | 8 | 320 | 0.0250 | 3 | c.117 others(22): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203355829 | C | CAAA | intron_variant | MODIFIER | HG01168.hp2 HG01884.hp1 HG02258.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0028 | a0001c0001t0006g0001a0001c0001t0006g0149a0001c0001t0006g0150others(8): Show | 11 | 320 | 0.0344 | 3 | c.118 others(22): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203376733 | C | CTTT | intron_variant | MODIFIER | HG01175.hp1 HG02083.hp2 HG03942.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0200a0001c0001t0001g0229a0001c0001t0001g0233others(7): Show | 10 | 320 | 0.0313 | 3 | c.286 others(20): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |