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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABHD10_chr3_111974026_111998368 | 111977308 | T | TACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG01071.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0023 a0001c0001t0002g0085 |
8 | 350 | 0.0229 | 8 | c.-17 others(19): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 1717 | chr3 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAAAGAGA others(1): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 NA18979.hp2 NA19002.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(2): Show | a0001c0001t0001g0324 a0001c0001t0003g0210 a0001c0001t0016g0056 others(2): Show |
5 | 121 | 0.0413 | 8 | c.-11 others(19): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50871026 | A | AAAGGAAG others(1): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 HG02074.hp2 HG03831.hp2 others(8): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(2): Show | a0001c0001t0001g0078 a0001c0001t0001g0309 a0001c0001t0001g0324 others(8): Show |
11 | 207 | 0.0531 | 8 | c.-11 others(19): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1026 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50886409 | C | CAGCCTGG others(1): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02717.hp1 HG02976.hp1 others(3): Show |
a0001a0004 | a0001c0013a0004c0009 | a0001c0013t0003a0004c0009t0001a0004c0009t0003others(2): Show | a0001c0013t0003g0035 a0001c0013t0003g0036 a0004c0009t0001g0289 others(3): Show |
6 | 374 | 0.0160 | 8 | c.663 others(23): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50887211 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01257.hp2 HG01981.hp2 others(11): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0001c0013others(3): Show | a0001c0001t0001a0001c0005t0004a0001c0013t0003others(5): Show | a0001c0001t0001g0174 a0001c0001t0001g0206 a0001c0005t0004g0261 others(11): Show |
14 | 16 | 0.8750 | 8 | c.700 others(23): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25332462 | G | GACATCTA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(82): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0002c0006others(1): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0006others(4): Show | a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 others(81): Show |
85 | 314 | 0.2707 | 8 | c.316 others(25): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25359423 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02896.hp1 HG02897.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0001t0008a0001c0004t0004 | a0001c0001t0004g0235 a0001c0001t0008g0301 a0001c0001t0008g0302 others(4): Show |
7 | 144 | 0.0486 | 8 | c.192 others(27): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25360227 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01361.hp2 HG02257.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006 | a0001c0002t0002g0147 a0001c0002t0002g0154 a0001c0002t0002g0157 others(3): Show |
6 | 75 | 0.0800 | 8 | c.192 others(27): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25387589 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01167.hp1 HG01192.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0008a0001c0002t0002others(1): Show | a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0238 others(11): Show |
14 | 150 | 0.0933 | 8 | c.191 others(25): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD13_chr13_108213392_108239243 | 108215427 | C | CCCCTACC others(1): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 HG01934.hp2 HG02056.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0022 a0001c0001t0001g0066 a0001c0001t0003g0002 |
8 | 9 | 0.8889 | 8 | c.-32 others(19): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 2964 | chr13 | TogoVar | |||||||
ABHD16A_chr6_31681955_31708324 | 31694387 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00735.hp2 HG01168.hp1 others(29): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0002 | a0001c0001t0001g0035 a0001c0001t0002g0006 a0001c0001t0002g0038 others(15): Show |
32 | 73 | 0.4384 | 8 | c.430 others(23): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 5/19 | chr6 | TogoVar | |||||||
ABHD17A_chr19_1871810_1890496 | 1886552 | G | GATAAATA others(1): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02155.hp1 others(9): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0003c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(6): Show |
12 | 280 | 0.0429 | 8 | c.-14 others(19): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 1057 | chr19 | TogoVar | |||||||
ABHD17C_chr15_80690310_80760621 | 80705333 | T | TTTTGTGT others(1): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01099.hp2 HG01106.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0050 others(7): Show |
13 | 40 | 0.3250 | 8 | c.590 others(25): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80713354 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00733.hp2 HG00738.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0318 a0001c0001t0002g0027 a0001c0001t0002g0028 others(8): Show |
11 | 54 | 0.2037 | 8 | c.590 others(27): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80713900 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02615.hp1 HG02922.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(1): Show | a0001c0001t0001g0158 a0001c0001t0001g0194 a0001c0001t0001g0270 others(3): Show |
6 | 90 | 0.0667 | 8 | c.590 others(27): 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(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00558.hp2 others(73): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(70): Show |
76 | 259 | 0.2934 | 8 | c.591 others(27): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128008340 | C | CGGCTCAC others(1): Show |
intron_variant | MODIFIER | NA18950.hp2 NA18969.hp1 NA19054.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0028a0001c0001t0037 | a0001c0001t0002g0222 a0001c0001t0028g0224 a0001c0001t0037g0214 |
3 | 342 | 0.0088 | 8 | c.279 others(23): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89127706 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02486.hp2 HG03098.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0003t0015 | a0001c0001t0001g0094 a0001c0001t0001g0230 a0001c0001t0004g0084 others(1): Show |
4 | 200 | 0.0200 | 8 | c.194 others(27): 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(1): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02559.hp2 HG02572.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(4): Show | a0001c0001t0001g0069 a0001c0001t0001g0107 a0001c0001t0001g0170 others(7): Show |
10 | 97 | 0.1031 | 8 | c.194 others(27): 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(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01169.hp2 HG02602.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0048 a0001c0001t0001g0061 a0001c0001t0002g0106 others(6): Show |
9 | 96 | 0.0938 | 8 | c.194 others(27): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89135140 | T | TTTCTTTT others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02004.hp2 HG02273.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 a0001c0001t0001g0184 a0001c0001t0001g0187 others(1): Show |
4 | 232 | 0.0172 | 8 | 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 | 89135143 | C | CTTTTCTT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01070.hp1 HG01106.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0020 others(28): Show |
31 | 208 | 0.1490 | 8 | 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 | 89146355 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02809.hp1 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0010others(1): Show | a0001c0001t0004g0151 a0001c0001t0006g0156 a0001c0001t0006g0165 others(3): Show |
6 | 40 | 0.1500 | 8 | c.195 others(25): 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(1): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03540.hp1 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014a0001c0001t0043 | a0001c0001t0004g0151 a0001c0001t0014g0015 a0001c0001t0043g0136 |
3 | 86 | 0.0349 | 8 | c.195 others(25): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89171115 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02258.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0011a0001c0001t0041others(4): Show | a0001c0001t0001g0007 a0001c0001t0001g0096 a0001c0001t0001g0102 others(12): Show |
15 | 231 | 0.0649 | 8 | c.539 others(25): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89183195 | C | CTGTTTGT others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02280.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0017a0001c0002t0023 | a0001c0002t0007g0110 a0001c0002t0007g0152 a0001c0002t0017g0006 others(2): Show |
5 | 232 | 0.0216 | 8 | c.723 others(25): 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(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01361.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0018 a0001c0001t0002g0052 a0001c0001t0009g0026 others(3): Show |
6 | 96 | 0.0625 | 8 | c.723 others(25): 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(1): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG01081.hp1 HG01952.hp1 others(11): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0048 a0001c0001t0001g0070 a0001c0001t0001g0091 others(11): Show |
14 | 61 | 0.2295 | 8 | c.*97 others(19): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2774 | chr15 | TogoVar | |||||||
ABHD2_chr15_89083456_89207355 | 89205168 | C | CTCTCTCT others(1): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 NA18972.hp1 NA18989.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0028 | a0001c0001t0003g0123 a0001c0001t0003g0134 a0001c0001t0003g0214 others(1): Show |
4 | 217 | 0.0184 | 8 | c.*97 others(19): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2814 | chr15 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21653077 | A | AAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02040.hp2 HG02280.hp2 others(3): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0002a0004c0006t0002 | a0001c0001t0001g0106 a0001c0001t0002g0188 a0001c0001t0002g0195 others(3): Show |
6 | 115 | 0.0522 | 8 | c.105 others(27): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 8/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21680852 | A | ATGTGTAT others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02280.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0106 a0001c0001t0002g0228 a0001c0001t0002g0229 others(1): Show |
4 | 269 | 0.0149 | 8 | c.555 others(25): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | |||||||
ABHD5_chr3_43685938_43727725 | 43715085 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00738.hp2 HG01070.hp2 others(40): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(6): Show | a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0012 others(19): Show |
43 | 89 | 0.4831 | 8 | c.773 others(21): 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(1): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02886.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0018 a0001c0001t0003g0269 a0001c0001t0005g0225 others(1): Show |
4 | 140 | 0.0286 | 8 | c.-25 others(23): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17289411 | A | AATAATAA others(1): Show |
downstream_gene_variant | MODIFIER | HG02027.hp2 HG02486.hp1 HG02717.hp1 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0008 a0001c0003t0003g0051 a0001c0003t0003g0052 others(5): Show |
8 | 208 | 0.0385 | 8 | c.*32 others(19): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2719 | chr19 | TogoVar | |||||||
ABHD8_chr19_17287131_17308425 | 17301776 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00741.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(3): Show | a0001c0001t0001g0012 a0001c0001t0001g0249 a0001c0001t0004g0090 others(10): Show |
13 | 138 | 0.0942 | 8 | c.-8- others(21): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26761617 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | NA18963.hp2 NA18993.hp2 NA19068.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0152 a0001c0001t0002g0177 a0001c0001t0002g0209 others(2): Show |
5 | 177 | 0.0282 | 8 | c.821 others(25): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26761661 | T | TATACACA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01168.hp2 HG01169.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0040 others(3): Show |
6 | 224 | 0.0268 | 8 | c.821 others(25): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26816986 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02630.hp2 NA18941.hp1 NA18967.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0075 a0001c0001t0001g0356 a0001c0001t0002g0189 others(5): Show |
8 | 22 | 0.3636 | 8 | c.285 others(25): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26833769 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG01106.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0007 | a0001c0001t0004g0076 a0001c0001t0004g0080 a0001c0001t0004g0081 others(17): Show |
20 | 33 | 0.6061 | 8 | c.118 others(27): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26834548 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00642.hp2 HG02040.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0233 others(1): Show |
4 | 65 | 0.0615 | 8 | c.118 others(27): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
ABI2_chr2_203323394_203437169 | 203331348 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG00735.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 others(29): Show |
32 | 59 | 0.5424 | 8 | 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 | 203342552 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00597.hp1 others(82): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0138 a0001c0001t0001g0202 a0001c0001t0001g0207 others(82): Show |
85 | 224 | 0.3795 | 8 | c.117 others(27): 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(1): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02155.hp1 HG02451.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0029 others(9): Show |
12 | 74 | 0.1622 | 8 | c.118 others(25): 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(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02293.hp1 HG02622.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0021 | a0001c0001t0004g0141 a0001c0001t0004g0146 a0001c0001t0005g0081 others(4): Show |
7 | 90 | 0.0778 | 8 | c.285 others(25): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203385139 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG01168.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0028 | a0001c0001t0001g0275 a0001c0001t0006g0001 a0001c0001t0006g0149 others(17): Show |
20 | 148 | 0.1351 | 8 | c.480 others(25): 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(1): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01175.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 a0001c0001t0001g0245 a0001c0001t0001g0246 others(2): Show |
5 | 284 | 0.0176 | 8 | c.726 others(23): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100749209 | T | TAAACAAA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG02027.hp2 HG02071.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0014a0001c0001t0018a0002c0002t0014others(1): Show | a0001c0001t0014g0188 a0001c0001t0014g0215 a0001c0001t0018g0047 others(3): Show |
6 | 163 | 0.0368 | 8 | c.*12 others(19): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 68/68 | 1285 | chr3 | TogoVar | ||||||
ABI3BP_chr3_100744156_100998421 | 100830106 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | NA18943.hp1 NA18998.hp2 |
a0001a0002 | a0001c0005a0002c0006 | a0001c0005t0004a0002c0006t0001 | a0001c0005t0004g0175 a0002c0006t0001g0081 |
2 | 174 | 0.0115 | 8 | c.245 others(25): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 32/67 | chr3 | TogoVar | |||||||
ABI3BP_chr3_100744156_100998421 | 100830110 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 NA18747.hp2 NA19087.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0003c0003t0003a0003c0003t0006 | a0002c0002t0002g0053 a0003c0003t0003g0051 a0003c0003t0006g0187 |
3 | 89 | 0.0337 | 8 | c.245 others(25): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 32/67 | chr3 | TogoVar | |||||||
ABI3BP_chr3_100744156_100998421 | 100841194 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01496.hp1 HG02486.hp2 others(2): Show |
a0001a0003a0010 | a0001c0001a0003c0003a0003c0026others(1): Show | a0001c0001t0006a0003c0003t0005a0003c0003t0007others(2): Show | a0001c0001t0006g0170 a0003c0003t0005g0099 a0003c0003t0007g0150 others(2): Show |
5 | 59 | 0.0847 | 8 | c.176 others(25): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 21/67 | chr3 | TogoVar |