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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCD4_chr14_74280269_74307934 | 74287566 | A | AAAAAG | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp2 HG01884.hp2 others(15): Show |
a0003a0004a0007 | a0003c0003a0004c0005a0007c0007 | a0003c0003t0005a0003c0003t0008a0003c0003t0011others(7): Show | a0003c0003t0005g0026 a0003c0003t0005g0179 a0003c0003t0008g0151 others(10): Show |
18 | 373 | 0.0483 | 5 | c.163 others(22): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 17/18 | chr14 | TogoVar | |||||||
ABCF1_chr6_30566442_30596522 | 30576276 | C | CTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00673.hp1 others(39): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0006a0004c0005t0001 | a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0031 others(20): Show |
42 | 141 | 0.2979 | 5 | c.74- others(20): Show |
ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ABCF1_chr6_30566442_30596522 | 30593544 | T | TATATA | downstream_gene_variant | MODIFIER | NA18942.hp1 NA18984.hp2 NA18992.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0043 a0001c0001t0001g0130 |
3 | 264 | 0.0114 | 5 | c.*28 others(16): Show |
ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 2023 | chr6 | TogoVar | |||||||
ABCF3_chr3_184181199_184199005 | 184197845 | T | TGTGTG | downstream_gene_variant | MODIFIER | HG00544.hp2 HG01361.hp1 HG01361.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 others(2): Show |
10 | 49 | 0.2041 | 5 | c.*41 others(16): Show |
ABCF3 | ENSG00000161204.12 | transcript | ENST00000429586.7 | protein_coding | 3841 | chr3 | TogoVar | |||||||
ABCG1_chr21_42214140_42302244 | 42241977 | C | CAAAAA | intron_variant | MODIFIER | HG01081.hp1 HG02280.hp1 HG02451.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0004a0001c0001t0007a0001c0002t0002others(2): Show | a0001c0001t0004g0327 a0001c0001t0007g0033 a0001c0002t0002g0328 others(4): Show |
7 | 195 | 0.0359 | 5 | c.286 others(24): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42266309 | T | TAAATA | intron_variant | MODIFIER | HG01099.hp2 HG01167.hp2 HG01169.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0085 a0001c0001t0001g0099 a0001c0001t0001g0115 others(10): Show |
13 | 332 | 0.0392 | 5 | c.287 others(22): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42270259 | C | CAAAAA | intron_variant | MODIFIER | HG01106.hp2 HG01167.hp1 HG01167.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0315 others(28): Show |
31 | 163 | 0.1902 | 5 | c.287 others(20): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42288766 | G | GAAGGA | intron_variant | MODIFIER | HG01123.hp1 HG01123.hp2 HG01981.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0144 a0001c0001t0010g0167 a0001c0001t0010g0292 |
3 | 352 | 0.0085 | 5 | c.122 others(22): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88125607 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG01123.hp2 HG01516.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 a0001c0001t0001g0077 a0001c0001t0001g0092 others(11): Show |
14 | 69 | 0.2029 | 5 | c.532 others(22): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 5/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88137012 | C | CAATAA | intron_variant | MODIFIER | HG01175.hp2 HG01361.hp1 HG01981.hp1 others(20): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(4): Show | a0001c0001t0001g0019 a0001c0001t0001g0044 a0001c0001t0001g0077 others(20): Show |
23 | 131 | 0.1756 | 5 | c.203 others(22): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 2/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88145837 | C | CGCTGA | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(180): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0007 a0001c0001t0001g0048 a0001c0001t0001g0082 others(177): Show |
183 | 348 | 0.5259 | 5 | c.-19 others(22): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 1/15 | chr4 | TogoVar | |||||||
ABHD10_chr3_111974026_111998368 | 111986428 | G | GTTTGT | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00639.hp1 others(102): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(34): Show |
105 | 345 | 0.3043 | 5 | c.438 others(18): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50871026 | A | AAAAGG | upstream_gene_variant | MODIFIER | NA19011.hp1 NA19011.hp2 NA19085.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0020 a0002c0002t0002g0348 |
3 | 199 | 0.0151 | 5 | c.-11 others(16): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1026 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50882973 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(266): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(17): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(249): Show |
269 | 293 | 0.9181 | 5 | c.486 others(22): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25297828 | A | AGTGGG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(142): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 others(141): Show |
145 | 314 | 0.4618 | 5 | c.*30 others(16): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2385 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25313578 | A | AAAAAT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(68): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0041 others(68): Show |
71 | 121 | 0.5868 | 5 | c.619 others(22): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 6/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25326110 | A | AAGGGG | intron_variant | MODIFIER | HG00544.hp1 HG01255.hp1 HG01496.hp1 others(33): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0002 a0001c0003t0002g0003 a0001c0003t0002g0176 others(31): Show |
36 | 314 | 0.1147 | 5 | c.317 others(22): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25359423 | C | CAAAAA | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01346.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0004 | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 others(3): Show |
6 | 143 | 0.0420 | 5 | c.192 others(24): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25360227 | C | CTTTTT | intron_variant | MODIFIER | HG00544.hp1 HG01123.hp2 HG01175.hp2 others(24): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0003a0001c0003t0002 | a0001c0002t0002g0205 a0001c0002t0003g0180 a0001c0002t0003g0182 others(24): Show |
27 | 96 | 0.2813 | 5 | c.192 others(24): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25369927 | T | TAAAAA | intron_variant | MODIFIER | HG01175.hp1 HG01361.hp2 HG02109.hp2 others(7): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0002a0001c0003t0010 | a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0003t0002g0240 others(7): Show |
10 | 38 | 0.2632 | 5 | c.191 others(24): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25390476 | G | GCCCCC | intron_variant | MODIFIER | HG01975.hp1 HG02129.hp1 HG02145.hp2 others(8): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0009a0001c0005t0004 | a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0039 others(8): Show |
11 | 50 | 0.2200 | 5 | c.191 others(18): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25393470 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00642.hp2 others(33): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0002t0002a0001c0002t0003others(3): Show | a0001c0001t0004g0291 a0001c0002t0002g0144 a0001c0002t0002g0147 others(33): Show |
36 | 80 | 0.4500 | 5 | c.-27 others(16): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2636 | chr20 | TogoVar | |||||||
ABHD13_chr13_108213392_108239243 | 108236682 | A | ATTTTT | downstream_gene_variant | MODIFIER | HG01106.hp1 HG01257.hp1 HG01257.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0003g0002 a0001c0001t0004g0006 a0001c0001t0006g0008 others(3): Show |
8 | 181 | 0.0442 | 5 | c.*64 others(16): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 2440 | chr13 | TogoVar | |||||||
ABHD15_chr17_29555547_29572037 | 29557060 | T | TAAACA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(322): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(96): Show |
325 | 416 | 0.7813 | 5 | c.*55 others(16): Show |
ABHD15 | ENSG00000168792.5 | transcript | ENST00000307201.5 | protein_coding | 3486 | chr17 | TogoVar | |||||||
ABHD16A_chr6_31681955_31708324 | 31685802 | T | TAAAAC | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(183): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0003t0002others(3): Show | a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0010 others(83): Show |
186 | 416 | 0.4471 | 5 | c.*14 others(16): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 1152 | chr6 | TogoVar | |||||||
ABHD17A_chr19_1871810_1890496 | 1889309 | A | AAAAAT | upstream_gene_variant | MODIFIER | HG02896.hp1 HG03579.hp1 NA18522.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0009 | 3 | 414 | 0.0072 | 5 | c.-41 others(16): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 3814 | chr19 | TogoVar | |||||||
ABHD17C_chr15_80690310_80760621 | 80705333 | T | TTTGTG | intron_variant | MODIFIER | HG04115.hp2 NA19000.hp2 NA19011.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0076 a0001c0001t0004g0005 a0001c0001t0004g0067 others(4): Show |
8 | 35 | 0.2286 | 5 | c.590 others(22): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80744142 | C | CTAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00733.hp2 others(67): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 others(66): Show |
70 | 358 | 0.1955 | 5 | c.591 others(22): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89135138 | T | TTTTTC | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00438.hp2 others(141): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0016 others(140): Show |
144 | 232 | 0.6207 | 5 | c.195 others(24): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89147350 | C | CTTTTT | intron_variant | MODIFIER | HG01243.hp2 HG02258.hp1 HG02280.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0011a0001c0001t0041others(4): Show | a0001c0001t0001g0007 a0001c0001t0001g0096 a0001c0001t0001g0102 others(11): Show |
14 | 83 | 0.1687 | 5 | c.195 others(22): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89170080 | C | CTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG01106.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0020 others(32): Show |
36 | 40 | 0.9000 | 5 | c.539 others(22): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89181228 | C | CAAAAA | intron_variant | MODIFIER | HG00741.hp1 HG01081.hp1 HG01106.hp1 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(5): Show | a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0019 others(42): Show |
45 | 88 | 0.5114 | 5 | c.723 others(22): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89205128 | T | TCTCTC | downstream_gene_variant | MODIFIER | HG02896.hp2 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0131 a0001c0001t0011g0013 |
2 | 49 | 0.0408 | 5 | c.*97 others(16): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2774 | chr15 | TogoVar | |||||||
ABHD2_chr15_89083456_89207355 | 89206003 | A | AGGGGG | downstream_gene_variant | MODIFIER | HG01081.hp2 HG01106.hp2 HG02486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0024 | a0001c0001t0002g0055 a0001c0001t0002g0106 a0001c0001t0009g0162 others(1): Show |
4 | 101 | 0.0396 | 5 | c.*10 others(18): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3649 | chr15 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21653077 | A | AAAAAG | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(100): Show |
a0001a0003 | a0001c0001a0001c0008a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0037 others(98): Show |
103 | 212 | 0.4858 | 5 | c.105 others(24): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 8/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21668200 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00639.hp1 others(124): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0041 others(123): Show |
127 | 264 | 0.4811 | 5 | c.556 others(22): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21689549 | C | CAAAAA | intron_variant | MODIFIER | HG00621.hp1 HG01256.hp2 HG01934.hp1 others(38): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0037 a0001c0001t0001g0117 a0001c0001t0002g0142 others(38): Show |
41 | 131 | 0.3130 | 5 | c.510 others(22): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | |||||||
ABHD3_chr18_21645901_21709774 | 21702554 | A | ATTTTG | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(195): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0004 a0001c0001t0001g0036 a0001c0001t0001g0037 others(193): Show |
198 | 302 | 0.6556 | 5 | c.327 others(18): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 2/8 | chr18 | TogoVar | |||||||
ABHD4_chr14_22593300_22617963 | 22600831 | G | GTGTGT | intron_variant | MODIFIER | NA18966.hp1 NA18966.hp2 NA18979.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 |
3 | 278 | 0.0108 | 5 | c.24- others(18): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
ABHD6_chr3_58232792_58299734 | 58252229 | G | GTTTTT | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG02486.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0017 | a0001c0001t0001g0014 a0001c0001t0001g0154 a0001c0001t0001g0226 others(7): Show |
10 | 47 | 0.2128 | 5 | c.-26 others(22): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58271766 | G | GTTTTT | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(58): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(3): Show | a0001c0001t0001g0140 a0001c0001t0002g0004 a0001c0001t0002g0005 others(56): Show |
61 | 113 | 0.5398 | 5 | c.523 others(20): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17289411 | A | AATAAT | downstream_gene_variant | MODIFIER | HG00642.hp2 HG00673.hp2 HG00733.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0255 others(21): Show |
26 | 226 | 0.1150 | 5 | c.*32 others(16): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2719 | chr19 | TogoVar | |||||||
ABHD8_chr19_17287131_17308425 | 17299560 | C | CAAAAA | intron_variant | MODIFIER | HG00733.hp1 HG01099.hp1 HG01168.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0012 a0001c0001t0001g0033 a0001c0001t0001g0192 others(5): Show |
11 | 285 | 0.0386 | 5 | c.761 others(22): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26747981 | C | CTGCTT | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(118): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0011others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0014 others(118): Show |
121 | 236 | 0.5127 | 5 | c.*58 others(14): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 11/11 | 588 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26747981 | C | CTTCTT | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00438.hp2 others(117): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0005 others(116): Show |
120 | 235 | 0.5106 | 5 | c.*58 others(14): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 11/11 | 588 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26773215 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00642.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0014 | a0001c0001t0004g0076 a0001c0001t0004g0079 a0001c0001t0004g0081 others(21): Show |
24 | 142 | 0.1690 | 5 | c.463 others(22): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 3/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26818631 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00642.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0087 others(3): Show |
6 | 194 | 0.0309 | 5 | c.285 others(22): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26851348 | A | ATTTTT | intron_variant | MODIFIER | HG00438.hp2 HG01081.hp2 HG04184.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0010others(1): Show | a0001c0001t0003g0298 a0001c0001t0004g0078 a0001c0001t0004g0079 others(3): Show |
6 | 63 | 0.0952 | 5 | c.117 others(22): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26858454 | C | CTTTTT | intron_variant | MODIFIER | HG01099.hp1 HG02896.hp2 HG02922.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010 | a0001c0001t0006g0347 a0001c0001t0006g0348 a0001c0001t0006g0349 others(3): Show |
6 | 306 | 0.0196 | 5 | c.117 others(22): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
ABI2_chr2_203323394_203437169 | 203344568 | T | TTTTTG | intron_variant | MODIFIER | HG02080.hp1 HG02293.hp1 HG02559.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(1): Show | a0001c0001t0001g0138 a0001c0001t0004g0136 a0001c0001t0004g0137 others(12): Show |
15 | 227 | 0.0661 | 5 | c.117 others(24): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |