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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABHD1_chr2_27118815_27135812 | 27119275 | G | GGTGAGCG others(5): Show |
upstream_gene_variant | MODIFIER | NA18986.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0014 | 1 | 400 | 0.0025 | 12 | c.-46 others(23): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 4539 | chr2 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89127706 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02109.hp2 HG02647.hp1 others(3): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0013a0001c0001t0016others(1): Show | a0001c0001t0001g0100a0001c0001t0001g0103a0001c0001t0013g0096others(3): Show | 6 | 234 | 0.0256 | 12 | c.194 others(31): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89127722 | C | CACATATA others(5): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 234 | 0.0043 | 12 | c.194 others(31): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89139022 | C | CAAGACAT others(5): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02055.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0017a0001c0001t0001g0041a0001c0001t0001g0042others(16): Show | 19 | 234 | 0.0812 | 12 | c.195 others(31): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89141132 | C | CTAATTAA others(5): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0033 | 1 | 234 | 0.0043 | 12 | c.195 others(31): 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(5): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02615.hp2 HG02965.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0087a0001c0001t0001g0117a0001c0001t0002g0002others(2): Show | 5 | 234 | 0.0214 | 12 | c.195 others(29): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89149214 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02486.hp2 |
a0001 | a0001c0003 | a0001c0003t0015 | a0001c0003t0015g0101a0001c0003t0015g0234 | 2 | 234 | 0.0086 | 12 | c.195 others(29): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89183382 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 234 | 0.0043 | 12 | c.723 others(29): 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(5): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0126 | 1 | 234 | 0.0043 | 12 | c.723 others(29): 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(5): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0119 | 1 | 234 | 0.0043 | 12 | c.723 others(29): 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(5): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG01109.hp2 HG01256.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0030others(2): Show | a0001c0001t0001g0019a0001c0001t0001g0044a0001c0001t0001g0074others(9): Show | 12 | 234 | 0.0513 | 12 | c.*97 others(23): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2774 | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89205168 | C | CTCTCTCT others(5): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 NA18950.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0079a0001c0001t0003g0230 | 2 | 234 | 0.0086 | 12 | c.*97 others(23): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2814 | chr15 | TogoVar | ||||||
ABHD5_chr3_43685938_43727725 | 43715085 | C | CTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02735.hp1 HG02809.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0011a0001c0001t0022others(1): Show | a0001c0001t0003g0032a0001c0001t0003g0178a0001c0001t0011g0170others(4): Show | 8 | 286 | 0.0280 | 12 | c.773 others(25): 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(5): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01934.hp1 HG02004.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0013a0001c0001t0001g0065a0001c0001t0001g0154others(10): Show | 13 | 302 | 0.0431 | 12 | c.-25 others(27): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58264387 | G | GCACACAC others(5): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0156 | 1 | 302 | 0.0033 | 12 | c.120 others(29): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58286848 | G | GCATATAT others(5): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02280.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0017a0001c0001t0001g0185a0001c0001t0001g0231others(3): Show | 6 | 302 | 0.0199 | 12 | c.837 others(29): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58286850 | G | GTATATAT others(5): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0268 | 1 | 302 | 0.0033 | 12 | c.837 others(29): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD8_chr19_17287131_17308425 | 17289411 | A | AAATAATA others(5): Show |
downstream_gene_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 386 | 0.0026 | 12 | c.*32 others(23): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2719 | chr19 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26761617 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | NA18949.hp2 NA18984.hp1 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0200a0001c0001t0002g0214a0001c0001t0002g0224 | 3 | 358 | 0.0084 | 12 | c.821 others(29): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26761661 | T | TATATACA others(5): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01261.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0059 | 2 | 358 | 0.0056 | 12 | c.821 others(29): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26761661 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01123.hp2 HG01516.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0036others(7): Show | 10 | 358 | 0.0279 | 12 | c.821 others(29): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26761661 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233a0001c0001t0001g0274 | 2 | 358 | 0.0056 | 12 | c.821 others(29): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26816986 | T | TTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02015.hp1 HG02135.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0013 | a0001c0001t0001g0275a0001c0001t0003g0285a0001c0001t0003g0286others(19): Show | 22 | 358 | 0.0615 | 12 | c.285 others(29): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26818631 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02895.hp2 HG03540.hp1 NA18967.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008a0001c0001t0003g0165a0001c0001t0003g0270 | 3 | 358 | 0.0084 | 12 | c.285 others(29): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26833769 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01358.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0088a0001c0001t0004g0093 | 2 | 358 | 0.0056 | 12 | c.118 others(31): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26834548 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 358 | 0.0028 | 12 | c.118 others(31): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203338983 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0121 | 1 | 320 | 0.0031 | 12 | c.117 others(31): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203342552 | T | TTTTATTT others(5): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00642.hp2 HG01167.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0182a0001c0001t0001g0200a0001c0001t0001g0202others(22): Show | 25 | 320 | 0.0781 | 12 | c.117 others(31): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203342570 | T | TTATTTAT others(5): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 320 | 0.0031 | 12 | c.117 others(31): 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(5): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02083.hp1 HG02622.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0019a0001c0001t0002g0020a0001c0001t0003g0208others(7): Show | 10 | 320 | 0.0313 | 12 | 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 | 203370186 | T | TTCTCTCT others(5): Show |
intron_variant | MODIFIER | HG02293.hp2 HG03831.hp1 NA18995.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0105a0001c0001t0005g0110a0001c0001t0005g0115 | 3 | 320 | 0.0094 | 12 | c.285 others(29): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203384275 | C | CTTGTTTT others(5): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01884.hp2 HG01943.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0140a0001c0001t0002g0058a0001c0001t0004g0121others(18): Show | 21 | 320 | 0.0656 | 12 | c.480 others(29): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203384290 | G | GTTTTTGT others(5): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0141 | 1 | 320 | 0.0031 | 12 | c.480 others(29): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203386430 | G | GTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0149 | 1 | 320 | 0.0031 | 12 | c.480 others(29): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203392263 | G | GCACCACC others(5): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 320 | 0.0031 | 12 | c.578 others(29): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203392275 | T | TCACCACC others(5): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00735.hp2 HG00741.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0212a0001c0001t0001g0213a0001c0001t0001g0214others(25): Show | 28 | 320 | 0.0875 | 12 | c.578 others(29): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203395448 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0191a0001c0001t0003g0192 | 2 | 320 | 0.0063 | 12 | c.726 others(27): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203395448 | T | TATACACA others(5): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02572.hp1 HG02886.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0205a0001c0001t0003g0209a0001c0001t0003g0210others(1): Show | 4 | 320 | 0.0125 | 12 | c.726 others(27): 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(5): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00735.hp1 HG01167.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0193a0001c0001t0002g0194a0001c0001t0002g0197others(6): Show | 9 | 320 | 0.0281 | 12 | c.726 others(27): 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(5): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0254a0001c0001t0001g0300a0001c0001t0003g0196 | 3 | 320 | 0.0094 | 12 | c.726 others(27): 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(5): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01981.hp1 NA18951.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207a0001c0001t0001g0263a0001c0001t0001g0268others(5): Show | 8 | 320 | 0.0250 | 12 | c.726 others(27): 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(5): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG00673.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(3): Show | a0001c0001t0001g0214a0001c0001t0001g0215a0001c0001t0001g0218others(30): Show | 33 | 320 | 0.1031 | 12 | c.726 others(27): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203408833 | C | CTTTCTTT others(5): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01257.hp1 HG01258.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0013a0001c0001t0021others(1): Show | a0001c0001t0005g0081a0001c0001t0005g0102a0001c0001t0005g0103others(13): Show | 16 | 320 | 0.0500 | 12 | c.119 others(31): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203408833 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00609.hp1 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0202a0001c0001t0001g0215a0001c0001t0001g0224others(42): Show | 45 | 320 | 0.1406 | 12 | c.119 others(31): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203434040 | A | ATATATAT others(5): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG02293.hp1 HG02559.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009 | a0001c0001t0001g0140a0001c0001t0004g0134a0001c0001t0004g0137others(9): Show | 12 | 320 | 0.0375 | 12 | c.*66 others(23): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1872 | chr2 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203434040 | A | ATATCTAT others(5): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 HG03540.hp1 HG03710.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0020 | a0001c0001t0004g0124a0001c0001t0004g0142a0001c0001t0004g0217others(1): Show | 4 | 320 | 0.0125 | 12 | c.*66 others(23): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1872 | chr2 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100841194 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG01106.hp2 NA18612.hp2 NA18967.hp1 others(1): Show |
a0003a0028 | a0003c0003a0028c0063 | a0003c0003t0003a0003c0003t0006a0028c0063t0001 | a0003c0003t0003g0049a0003c0003t0003g0092a0003c0003t0006g0237others(1): Show | 4 | 238 | 0.0168 | 12 | c.176 others(29): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 21/67 | chr3 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100841220 | T | TTTTGTTT others(5): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01258.hp2 HG02886.hp1 others(3): Show |
a0002a0006 | a0002c0002a0002c0008a0002c0012others(1): Show | a0002c0002t0002a0002c0002t0005a0002c0002t0007others(3): Show | a0002c0002t0002g0064a0002c0002t0005g0110a0002c0002t0007g0155others(3): Show | 6 | 238 | 0.0252 | 12 | c.176 others(29): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 21/67 | chr3 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100869330 | G | GTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03139.hp2 |
a0009a0016 | a0009c0023a0016c0043 | a0009c0023t0017a0016c0043t0004 | a0009c0023t0017g0005a0016c0043t0004g0205 | 2 | 238 | 0.0084 | 12 | c.911 others(29): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 9/67 | chr3 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100884738 | G | GACCAAAG others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(150): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0004a0001c0005others(45): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(81): Show | a0001c0001t0002g0038a0001c0001t0002g0066a0001c0001t0002g0072others(150): Show | 153 | 238 | 0.6429 | 12 | c.696 others(27): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 6/67 | chr3 | TogoVar |