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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABHD17C_chr15_80690310_80760621 | 80713382 | T | TTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296 | 1 | 358 | 0.0028 | 10 | c.590 others(29): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
ABHD17C_chr15_80690310_80760621 | 80713900 | C | CCACACAC others(3): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02970.hp1 NA18997.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0118 a0001c0001t0001g0157 a0001c0001t0001g0181 others(5): Show |
8 | 92 | 0.0870 | 10 | c.590 others(29): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80723138 | A | ATATGTGT others(3): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0307 | 1 | 184 | 0.0054 | 10 | c.591 others(29): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80723138 | A | ATGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG02056.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0118 a0001c0001t0001g0178 a0001c0001t0001g0198 others(12): Show |
15 | 198 | 0.0758 | 10 | c.591 others(29): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89127706 | C | CATATATA others(3): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03130.hp1 HG03486.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0091 a0001c0001t0001g0147 a0001c0001t0002g0218 others(2): Show |
5 | 201 | 0.0249 | 10 | c.194 others(29): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89127722 | C | CACACATA others(3): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0104 | 1 | 88 | 0.0114 | 10 | c.194 others(29): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89146355 | C | CGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02735.hp1 NA20129.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0021a0001c0001t0042a0001c0007t0007 | a0001c0001t0021g0166 a0001c0001t0042g0058 a0001c0007t0007g0224 |
3 | 37 | 0.0811 | 10 | c.195 others(27): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89183368 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0036 | 1 | 208 | 0.0048 | 10 | c.723 others(27): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89183382 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG03579.hp2 others(2): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0022a0001c0008t0001 | a0001c0001t0001g0102 a0001c0001t0001g0159 a0001c0001t0001g0180 others(2): Show |
5 | 173 | 0.0289 | 10 | c.723 others(27): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89183384 | A | AAAAAAAA others(3): Show |
intron_variant | MODIFIER | NA18961.hp1 NA19005.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0130 a0001c0001t0005g0126 |
2 | 92 | 0.0217 | 10 | c.723 others(27): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89183384 | A | AAAAAATA others(3): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01256.hp2 HG03688.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 a0001c0001t0002g0071 a0001c0001t0002g0106 others(3): Show |
6 | 96 | 0.0625 | 10 | c.723 others(27): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89183384 | A | AAAATATA others(3): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 91 | 0.0110 | 10 | c.723 others(27): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89183384 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 a0001c0001t0001g0099 |
2 | 92 | 0.0217 | 10 | c.723 others(27): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89205128 | T | TTCTCTCT others(3): Show |
downstream_gene_variant | MODIFIER | HG01258.hp1 HG01884.hp2 HG02809.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(1): Show | a0001c0001t0001g0109 a0001c0001t0001g0141 a0001c0001t0006g0192 others(3): Show |
6 | 53 | 0.1132 | 10 | c.*97 others(21): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2774 | chr15 | TogoVar | |||||||
ABHD2_chr15_89083456_89207355 | 89205168 | C | CTCTCTCT others(3): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG02027.hp2 HG02071.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0050 a0001c0001t0003g0116 a0001c0001t0003g0144 others(1): Show |
4 | 217 | 0.0184 | 10 | c.*97 others(21): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2814 | chr15 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21653077 | A | AAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 110 | 0.0091 | 10 | c.105 others(29): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 8/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21680852 | A | ATGTGTAT others(3): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02451.hp1 HG02922.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0001t0007a0001c0001t0011others(1): Show | a0001c0001t0005g0276 a0001c0001t0005g0277 a0001c0001t0007g0285 others(4): Show |
7 | 272 | 0.0257 | 10 | c.555 others(27): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21704714 | G | GGCGAGCG others(3): Show |
5_prime_UTR_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0139 | 1 | 302 | 0.0033 | 10 | c.-59 others(17): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 1/9 | 50 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21704716 | C | CGAGCGGG others(3): Show |
5_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(110): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0009others(6): Show | a0001c0001t0002g0005 a0001c0001t0002g0140 a0001c0001t0002g0141 others(109): Show |
113 | 262 | 0.4313 | 10 | c.-61 others(17): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 1/9 | 52 | chr18 | TogoVar | ||||||
ABHD5_chr3_43685938_43727725 | 43715085 | C | CTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01255.hp2 HG01952.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0003g0167 a0001c0001t0003g0171 a0001c0001t0003g0172 others(11): Show |
15 | 61 | 0.2459 | 10 | c.773 others(23): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58256096 | C | CACACACA others(3): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(144): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 others(138): Show |
147 | 283 | 0.5194 | 10 | c.-25 others(25): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58286848 | G | GCATATAT others(3): Show |
intron_variant | MODIFIER | HG02451.hp1 NA18956.hp1 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 a0001c0001t0001g0181 a0001c0001t0001g0196 |
3 | 86 | 0.0349 | 10 | c.837 others(27): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | chr3 | TogoVar | |||||||
ABHD6_chr3_58232792_58299734 | 58286850 | G | GTATATAT others(3): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02145.hp2 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0220 a0001c0001t0003g0254 a0001c0001t0003g0285 others(1): Show |
4 | 42 | 0.0952 | 10 | c.837 others(27): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58286870 | G | GTATATAT others(3): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03195.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0182 a0001c0001t0001g0234 |
3 | 37 | 0.0811 | 10 | c.837 others(27): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17301776 | T | TTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 a0001c0001t0001g0265 |
2 | 127 | 0.0157 | 10 | c.-8- others(23): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26761617 | C | CATATATA others(3): Show |
intron_variant | MODIFIER | HG02735.hp1 HG03195.hp1 NA18952.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015 | a0001c0001t0002g0172 a0001c0001t0002g0208 a0001c0001t0002g0252 others(2): Show |
5 | 177 | 0.0282 | 10 | c.821 others(27): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26761661 | T | TATACACA others(3): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 219 | 0.0046 | 10 | c.821 others(27): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26761661 | T | TATATACA others(3): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01167.hp2 HG01243.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 a0001c0001t0001g0046 a0001c0001t0001g0049 others(9): Show |
12 | 230 | 0.0522 | 10 | c.821 others(27): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26761661 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | HG02486.hp2 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 a0001c0001t0001g0164 |
2 | 220 | 0.0091 | 10 | c.821 others(27): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26761661 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02132.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 a0001c0001t0001g0116 |
2 | 220 | 0.0091 | 10 | c.821 others(27): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26773215 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0351 | 1 | 119 | 0.0084 | 10 | c.463 others(27): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 3/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26816986 | T | TTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02622.hp2 HG02896.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0290 a0001c0001t0003g0301 a0001c0001t0003g0308 others(5): Show |
8 | 22 | 0.3636 | 10 | c.285 others(27): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26818631 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(35): Show |
38 | 226 | 0.1681 | 10 | c.285 others(27): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26833769 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG02723.hp1 NA19043.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0004a0003c0003t0004 | a0001c0001t0004g0084 a0003c0003t0004g0357 |
2 | 15 | 0.1333 | 10 | c.118 others(29): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26851348 | A | ATTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0080 | 1 | 58 | 0.0172 | 10 | c.117 others(27): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
ABI2_chr2_203323394_203437169 | 203328895 | T | TCGGCCGC others(3): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0320 | 1 | 318 | 0.0031 | 10 | c.117 others(25): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203340235 | G | GTGGGGAG others(3): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 1 | 318 | 0.0031 | 10 | c.117 others(29): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203355830 | A | AAAACTGT others(3): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 318 | 0.0031 | 10 | c.118 others(29): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203358071 | T | TTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03195.hp2 HG04204.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0002g0028 a0001c0001t0004g0127 a0001c0001t0004g0148 others(5): Show |
8 | 70 | 0.1143 | 10 | c.118 others(27): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203364091 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02809.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0080 |
3 | 295 | 0.0102 | 10 | c.118 others(27): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203370186 | T | TTCTCTCT others(3): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02155.hp1 HG06807.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0013 | a0001c0001t0002g0024 a0001c0001t0005g0100 a0001c0001t0005g0106 others(4): Show |
7 | 90 | 0.0778 | 10 | c.285 others(27): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203386430 | G | GTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0164 a0001c0001t0006g0173 |
2 | 132 | 0.0152 | 10 | c.480 others(27): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203395432 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG00597.hp1 HG03688.hp1 HG03831.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014a0001c0001t0025 | a0001c0001t0001g0251 a0001c0001t0001g0285 a0001c0001t0001g0295 others(2): Show |
5 | 284 | 0.0176 | 10 | c.726 others(25): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203395448 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0206 a0001c0001t0003g0210 |
2 | 81 | 0.0247 | 10 | c.726 others(25): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203395448 | T | TATATACA others(3): Show |
intron_variant | MODIFIER | HG01515.hp1 HG02055.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0299 a0001c0001t0003g0289 |
2 | 81 | 0.0247 | 10 | c.726 others(25): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203395448 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | NA18945.hp1 NA18980.hp2 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 a0001c0001t0001g0304 a0001c0001t0001g0316 |
3 | 82 | 0.0366 | 10 | c.726 others(25): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203395448 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00733.hp1 HG01081.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 a0001c0001t0001g0234 a0001c0001t0001g0241 others(7): Show |
10 | 89 | 0.1124 | 10 | c.726 others(25): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203408833 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01169.hp1 HG03491.hp1 NA18974.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0214 a0001c0001t0001g0233 a0001c0001t0006g0168 |
3 | 135 | 0.0222 | 10 | c.119 others(29): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203434056 | C | CTATATAT others(3): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0183 | 1 | 288 | 0.0035 | 10 | c.*67 others(21): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1888 | chr2 | TogoVar | |||||||
ABI2_chr2_203323394_203437169 | 203434056 | C | CTATCTAT others(3): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0099 | 1 | 288 | 0.0035 | 10 | c.*67 others(21): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1888 | chr2 | TogoVar |