view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 | 89159766 | A | ATCC | intron_variant | MODIFIER | HG02004.hp1 HG02602.hp2 HG02717.hp2 others(17): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0061 a0001c0001t0001g0076 a0001c0001t0001g0086 others(17): Show |
20 | 232 | 0.0862 | 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 | a0001c0001t0001g0030 a0001c0001t0001g0048 a0001c0001t0001g0072 others(19): Show |
22 | 26 | 0.8462 | 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 | a0001c0001t0001a0001c0001t0016a0001c0001t0034others(3): Show | a0001c0001t0001g0054 a0001c0001t0016g0067 a0001c0001t0034g0163 others(5): Show |
8 | 51 | 0.1569 | 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 | a0001c0001t0001g0029 a0001c0001t0001g0170 |
2 | 170 | 0.0118 | 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 | a0001c0001t0001g0109 a0001c0001t0001g0173 a0001c0001t0001g0184 others(1): Show |
4 | 94 | 0.0426 | 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 | a0001c0001t0004g0066 a0001c0001t0004g0151 a0001c0001t0004g0219 |
3 | 50 | 0.0600 | 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 | a0001c0001t0002g0052 a0001c0001t0002g0056 a0001c0001t0002g0057 others(13): Show |
16 | 113 | 0.1416 | 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 | a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 others(17): Show |
20 | 120 | 0.1667 | 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 |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0004 a0001c0001t0001g0036 a0001c0001t0001g0037 others(191): Show |
196 | 302 | 0.6490 | 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 |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 others(154): Show |
158 | 302 | 0.5232 | 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 | a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0129 others(3): Show |
6 | 116 | 0.0517 | 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 | a0001c0001t0001g0004 a0001c0001t0001g0040 a0001c0001t0001g0106 others(25): Show |
29 | 119 | 0.2437 | 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 | a0001c0001t0001g0110 a0001c0001t0001g0127 a0001c0001t0001g0128 others(7): Show |
10 | 105 | 0.0952 | 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 | a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 others(8): Show |
11 | 115 | 0.0957 | 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 | a0001c0001t0003g0046 a0001c0001t0003g0160 a0001c0001t0003g0161 others(6): Show |
9 | 199 | 0.0452 | 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 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0015 others(150): Show |
158 | 189 | 0.8360 | 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 | a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0019 others(34): Show |
37 | 74 | 0.5000 | 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 | a0001c0001t0001g0190 a0001c0001t0001g0203 a0001c0001t0001g0204 others(1): Show |
4 | 300 | 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 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 others(257): Show |
268 | 300 | 0.8933 | 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 |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0010 | a0001c0001t0001a0001c0001t0006a0001c0001t0015others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0010 others(22): Show |
36 | 236 | 0.1525 | 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 |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0013 a0001c0001t0001g0198 a0001c0001t0001g0199 others(65): Show |
90 | 208 | 0.4327 | 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 | a0001c0001t0002g0138 a0001c0001t0002g0144 a0001c0001t0002g0145 others(5): Show |
12 | 160 | 0.0750 | 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 | a0001c0001t0001g0014 a0001c0001t0001g0035 a0001c0001t0001g0190 others(53): Show |
67 | 202 | 0.3317 | 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 | a0001c0001t0001g0274 a0001c0001t0004g0137 a0001c0001t0004g0140 others(8): Show |
11 | 142 | 0.0775 | 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 | a0001c0001t0001g0253 a0001c0001t0002g0139 a0001c0001t0004g0090 others(25): Show |
30 | 162 | 0.1852 | 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 |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(10): Show | a0001c0001t0001g0178 a0001c0001t0006g0277 a0001c0001t0008g0011 others(61): Show |
76 | 384 | 0.1979 | 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 | a0001c0001t0007g0077 a0001c0001t0007g0083 a0001c0001t0007g0090 others(3): Show |
6 | 356 | 0.0169 | 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 | a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280 others(5): Show |
8 | 356 | 0.0225 | 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 | a0001c0001t0001g0075 a0001c0001t0001g0165 a0001c0001t0001g0232 others(8): Show |
11 | 209 | 0.0526 | 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 | a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 others(7): Show |
10 | 186 | 0.0538 | 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 | a0001c0001t0003g0001 a0001c0001t0003g0012 a0001c0001t0003g0286 others(28): Show |
32 | 356 | 0.0899 | 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 | a0001c0001t0001g0161 a0001c0001t0002g0184 a0001c0001t0002g0191 |
3 | 17 | 0.1765 | 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 | a0001c0001t0001g0274 a0001c0001t0002g0262 a0001c0001t0003g0326 others(56): Show |
59 | 60 | 0.9833 | 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 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0141 others(27): Show |
30 | 263 | 0.1141 | 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 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 others(13): Show |
16 | 248 | 0.0645 | 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 | a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0150 others(13): Show |
16 | 278 | 0.0576 | 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 | a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0157 others(7): Show |
10 | 327 | 0.0306 | 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 | a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0053 others(37): Show |
41 | 98 | 0.4184 | 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 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0105 a0001c0001t0001g0124 a0001c0001t0001g0125 others(35): Show |
38 | 133 | 0.2857 | 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 | a0001c0001t0001g0014 a0001c0001t0001g0028 a0001c0001t0001g0035 others(14): Show |
17 | 116 | 0.1466 | 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(152): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0030 others(152): Show |
155 | 174 | 0.8908 | 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 | a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0097 others(5): Show |
8 | 315 | 0.0254 | 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 | a0001c0001t0006g0001 a0001c0001t0006g0149 a0001c0001t0006g0150 others(8): Show |
11 | 204 | 0.0539 | 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 | a0001c0001t0001g0200 a0001c0001t0001g0228 a0001c0001t0001g0232 others(7): Show |
10 | 194 | 0.0515 | 3 | c.286 others(20): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203392275 | T | TCAC | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00423.hp2 others(59): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0181 a0001c0001t0002g0005 a0001c0001t0002g0010 others(59): Show |
62 | 101 | 0.6139 | 3 | c.578 others(20): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203392314 | C | CCAA | intron_variant | MODIFIER | HG00609.hp2 HG01168.hp1 HG01975.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0015 others(3): Show |
6 | 65 | 0.0923 | 3 | c.578 others(20): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203403742 | G | GTTT | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG00733.hp2 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0231 a0001c0001t0001g0272 a0001c0001t0001g0291 others(47): Show |
50 | 159 | 0.3145 | 3 | c.119 others(22): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203413897 | C | CCAG | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00423.hp1 others(89): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(4): Show | a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0200 others(89): Show |
92 | 318 | 0.2893 | 3 | c.127 others(22): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203415616 | C | CAAA | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG02083.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0013a0001c0001t0023 | a0001c0001t0005g0081 a0001c0001t0005g0100 a0001c0001t0005g0102 others(9): Show |
12 | 186 | 0.0645 | 3 | c.128 others(22): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203434566 | C | CAAA | downstream_gene_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG02970.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0005 | a0001c0001t0001g0181 a0001c0001t0001g0277 a0001c0001t0005g0098 others(4): Show |
7 | 242 | 0.0289 | 3 | c.*72 others(14): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 2398 | chr2 | TogoVar |