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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCG1_chr21_42214140_42302244 | 42295333 | TAA | T | intron_variant | MODIFIER | HG01884.hp1 HG02922.hp2 HG03486.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0078 a0001c0001t0001g0091 a0001c0001t0001g0155 others(4): Show |
7 | 28 | 0.2500 | -2 | c.177 others(19): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42300402 | CAT | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(97): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0082 others(95): Show |
100 | 352 | 0.2841 | -2 | c.*40 others(13): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 3159 | chr21 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88093503 | CAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(172): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(10): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0019 others(167): Show |
175 | 194 | 0.9021 | -2 | c.182 others(21): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 15/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88100191 | TAA | T | intron_variant | MODIFIER | HG01074.hp1 HG01167.hp1 HG01884.hp2 others(9): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0011 | a0001c0001t0001a0002c0002t0002a0007c0011t0001 | a0001c0001t0001g0019 a0001c0001t0001g0077 a0001c0001t0001g0137 others(9): Show |
12 | 101 | 0.1188 | -2 | c.136 others(19): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 11/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88112450 | CCT | C | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG01071.hp2 others(67): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(6): Show | a0001c0001t0001g0062 a0001c0001t0001g0161 a0002c0002t0001g0002 others(65): Show |
70 | 348 | 0.2011 | -2 | c.119 others(19): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 9/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88115256 | CTA | C | intron_variant | MODIFIER | HG00639.hp1 HG02818.hp2 NA19240.hp2 |
a0001a0006 | a0001c0001a0006c0012 | a0001c0001t0001a0001c0001t0005a0006c0012t0001 | a0001c0001t0001g0028 a0001c0001t0005g0181 a0006c0012t0001g0030 |
3 | 170 | 0.0176 | -2 | c.842 others(17): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88125607 | CAA | C | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG01071.hp2 others(62): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 others(62): Show |
65 | 120 | 0.5417 | -2 | c.532 others(19): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 5/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88144449 | CTT | C | intron_variant | MODIFIER | HG02293.hp1 HG03490.hp1 HG03491.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0002c0002t0002a0002c0004t0001 | a0001c0001t0001g0095 a0001c0001t0001g0107 a0001c0001t0001g0125 others(5): Show |
8 | 45 | 0.1778 | -2 | c.-19 others(19): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 1/15 | chr4 | TogoVar | |||||||
ABCG4_chr11_119144052_119167653 | 119144120 | ATT | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(215): Show |
a0001a0005 | a0001c0001a0001c0005a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 others(55): Show |
218 | 316 | 0.6899 | -2 | c.-52 others(13): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 4931 | chr11 | TogoVar | |||||||
ABCG4_chr11_119144052_119167653 | 119147515 | AAG | A | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02155.hp2 HG02572.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0017 a0001c0001t0002g0088 a0001c0001t0003g0003 others(6): Show |
21 | 386 | 0.0544 | -2 | c.-18 others(13): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 1536 | chr11 | TogoVar | |||||||
ABCG4_chr11_119144052_119167653 | 119149609 | TAG | T | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG01256.hp2 others(72): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0087 a0001c0001t0002g0017 a0001c0001t0002g0035 others(25): Show |
75 | 386 | 0.1943 | -2 | c.-13 others(17): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43807743 | CAA | C | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00639.hp2 HG00642.hp2 others(76): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0010a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0069 a0001c0001t0003g0147 a0001c0001t0003g0148 others(65): Show |
79 | 213 | 0.3709 | -2 | c.*53 others(13): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 4728 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43808964 | TAC | T | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00639.hp2 others(83): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0013a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(12): Show | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0051 others(68): Show |
86 | 231 | 0.3723 | -2 | c.*41 others(13): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 3507 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43812319 | CTT | C | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00639.hp2 HG00642.hp2 others(83): Show |
a0001a0002a0004others(5): Show | a0001c0001a0002c0002a0002c0009others(7): Show | a0001c0001t0010a0002c0002t0002a0002c0002t0008others(9): Show | a0001c0001t0010g0037 a0002c0002t0002g0002 a0002c0002t0002g0005 others(67): Show |
86 | 311 | 0.2765 | -2 | c.*79 others(11): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 152 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43816433 | GGA | G | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp2 HG01074.hp2 others(36): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0001others(3): Show | a0001c0001t0001g0045 a0001c0001t0001g0109 a0002c0002t0002g0002 others(30): Show |
39 | 325 | 0.1200 | -2 | c.165 others(21): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 11/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43821005 | CTT | C | intron_variant | MODIFIER | HG00642.hp2 HG01099.hp1 HG02559.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0164 others(1): Show |
4 | 328 | 0.0122 | -2 | c.146 others(19): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 10/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43828472 | CAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp1 others(131): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0010a0001c0013others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(91): Show |
134 | 268 | 0.5000 | -2 | c.502 others(17): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 4/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43839403 | CTT | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG01346.hp1 HG01891.hp1 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0007 a0001c0001t0001g0045 a0001c0001t0001g0058 others(15): Show |
18 | 21 | 0.8571 | -2 | c.-72 others(11): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 565 | chr2 | TogoVar | |||||||
ABCG8_chr2_43833971_43887988 | 43839403 | CTT | C | intron_variant | MODIFIER | HG00280.hp2 HG01346.hp1 HG01891.hp2 others(14): Show |
a0002a0003a0004others(1): Show | a0002c0003a0002c0004a0002c0024others(3): Show | a0002c0003t0002a0002c0003t0004a0002c0003t0005others(13): Show | a0002c0003t0002g0255 a0002c0003t0004g0248 a0002c0003t0005g0249 others(14): Show |
17 | 18 | 0.9444 | -2 | c.63+ others(15): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43845080 | ATG | A | intron_variant | MODIFIER | HG01346.hp2 HG02486.hp1 HG02630.hp1 others(14): Show |
a0002a0003a0007 | a0002c0003a0002c0004a0003c0002others(2): Show | a0002c0003t0005a0002c0004t0009a0002c0004t0037others(8): Show | a0002c0003t0005g0229 a0002c0004t0009g0190 a0002c0004t0037g0228 others(11): Show |
17 | 315 | 0.0540 | -2 | c.165 others(17): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43845098 | GTA | G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00438.hp1 others(87): Show |
a0002a0003a0004others(4): Show | a0002c0003a0002c0004a0002c0024others(10): Show | a0002c0003t0002a0002c0003t0004a0002c0003t0005others(43): Show | a0002c0003t0002g0019 a0002c0003t0002g0044 a0002c0003t0002g0045 others(83): Show |
90 | 160 | 0.5625 | -2 | c.165 others(17): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43846987 | CGT | C | intron_variant | MODIFIER | HG00438.hp1 HG00741.hp2 HG01943.hp1 others(24): Show |
a0003a0006a0009others(3): Show | a0003c0002a0003c0021a0003c0022others(5): Show | a0003c0002t0002a0003c0002t0004a0003c0002t0095others(15): Show | a0003c0002t0002g0209 a0003c0002t0004g0172 a0003c0002t0095g0242 others(23): Show |
27 | 316 | 0.0854 | -2 | c.322 others(17): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43846990 | GCA | G | intron_variant | MODIFIER | HG00323.hp2 HG00597.hp1 HG00621.hp2 others(19): Show |
a0001a0003a0004 | a0001c0001a0003c0002a0004c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(13): Show | a0001c0001t0001g0116 a0001c0001t0003g0051 a0001c0001t0003g0111 others(19): Show |
22 | 212 | 0.1038 | -2 | c.322 others(17): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43852581 | CCT | C | intron_variant | MODIFIER | HG02109.hp2 HG02559.hp2 HG03098.hp1 others(2): Show |
a0009a0012 | a0009c0012a0012c0031 | a0009c0012t0023a0009c0012t0072a0012c0031t0045 | a0009c0012t0023g0026 a0009c0012t0023g0027 a0009c0012t0023g0028 others(2): Show |
5 | 316 | 0.0158 | -2 | c.695 others(15): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43860385 | TCA | T | intron_variant | MODIFIER | HG02109.hp2 HG02559.hp2 HG03098.hp1 others(2): Show |
a0009a0012 | a0009c0012a0012c0031 | a0009c0012t0023a0009c0012t0072a0012c0031t0045 | a0009c0012t0023g0026 a0009c0012t0023g0027 a0009c0012t0023g0028 others(2): Show |
5 | 316 | 0.0158 | -2 | c.964 others(19): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43865592 | TCA | T | intron_variant | MODIFIER | HG01192.hp1 HG02895.hp2 HG03490.hp1 others(1): Show |
a0003 | a0003c0010 | a0003c0010t0020a0003c0010t0110 | a0003c0010t0020g0036 a0003c0010t0020g0037 a0003c0010t0020g0038 others(1): Show |
4 | 316 | 0.0127 | -2 | c.965 others(19): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43872965 | TAC | T | intron_variant | MODIFIER | HG01192.hp1 HG02895.hp2 HG03490.hp1 others(1): Show |
a0003 | a0003c0010 | a0003c0010t0020a0003c0010t0110 | a0003c0010t0020g0036 a0003c0010t0020g0037 a0003c0010t0020g0038 others(1): Show |
4 | 316 | 0.0127 | -2 | c.121 others(19): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43877471 | ACT | A | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00735.hp1 others(48): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0003a0003c0002others(9): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0031others(20): Show | a0001c0001t0001g0048 a0001c0001t0001g0085 a0001c0001t0007g0057 others(46): Show |
51 | 316 | 0.1614 | -2 | c.175 others(17): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43883284 | CAA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(261): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0008a0002c0003others(26): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(108): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(242): Show |
264 | 316 | 0.8354 | -2 | c.*53 others(13): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 297 | chr2 | TogoVar | |||||||
ABHD10_chr3_111974026_111998368 | 111985633 | GCA | G | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00558.hp1 others(74): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0012 others(17): Show |
77 | 422 | 0.1825 | -2 | c.327 others(17): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD10_chr3_111974026_111998368 | 111986589 | CCA | C | intron_variant | MODIFIER | HG00735.hp1 HG01891.hp1 HG02630.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0054 |
7 | 422 | 0.0166 | -2 | c.438 others(17): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD11_chr7_73731094_73743802 | 73734521 | TAC | T | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00621.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0010 others(1): Show |
32 | 426 | 0.0751 | -2 | c.*20 others(13): Show |
ABHD11 | ENSG00000106077.19 | transcript | ENST00000222800.8 | protein_coding | 1572 | chr7 | TogoVar | |||||||
ABHD11_chr7_73731094_73743802 | 73734902 | TGA | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(205): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0004t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(10): Show |
208 | 426 | 0.4883 | -2 | c.*16 others(13): Show |
ABHD11 | ENSG00000106077.19 | transcript | ENST00000222800.8 | protein_coding | 1191 | chr7 | TogoVar | |||||||
ABHD11_chr7_73731094_73743802 | 73735708 | ACT | A | downstream_gene_variant | MODIFIER | NA18960.hp1 NA18966.hp2 NA18971.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0013 |
4 | 426 | 0.0094 | -2 | c.*84 others(11): Show |
ABHD11 | ENSG00000106077.19 | transcript | ENST00000222800.8 | protein_coding | 385 | chr7 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50870981 | AAG | A | upstream_gene_variant | MODIFIER | HG01884.hp2 HG03209.hp1 NA19030.hp1 others(1): Show |
a0001a0004a0008 | a0001c0001a0001c0005a0004c0009others(1): Show | a0001c0001t0001a0001c0005t0004a0004c0009t0015others(1): Show | a0001c0001t0001g0296 a0001c0005t0004g0125 a0004c0009t0015g0177 others(1): Show |
4 | 339 | 0.0118 | -2 | c.-11 others(13): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1071 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50870997 | GAA | G | upstream_gene_variant | MODIFIER | HG03209.hp1 HG03516.hp1 NA20129.hp1 |
a0002a0004 | a0002c0002a0002c0004a0004c0009 | a0002c0002t0005a0002c0004t0006a0004c0009t0015 | a0002c0002t0005g0179 a0002c0004t0006g0169 a0004c0009t0015g0177 |
3 | 373 | 0.0080 | -2 | c.-11 others(13): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1055 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50880243 | GTC | G | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(29): Show |
a0001a0002a0009 | a0001c0006a0001c0011a0002c0004others(1): Show | a0001c0006t0001a0001c0006t0013a0001c0011t0004others(4): Show | a0001c0006t0001g0058 a0001c0006t0001g0091 a0001c0006t0001g0241 others(27): Show |
32 | 374 | 0.0856 | -2 | c.336 others(17): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50882373 | CTT | C | intron_variant | MODIFIER | HG00280.hp2 HG01884.hp1 HG02622.hp2 others(7): Show |
a0002a0003a0007others(1): Show | a0002c0002a0003c0003a0007c0015others(1): Show | a0002c0002t0005a0003c0003t0001a0007c0015t0001others(1): Show | a0002c0002t0005g0022 a0002c0002t0005g0153 a0002c0002t0005g0170 others(7): Show |
10 | 16 | 0.6250 | -2 | c.486 others(17): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50884035 | ATC | A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(34): Show |
a0001a0002a0004others(1): Show | a0001c0006a0001c0011a0002c0004others(2): Show | a0001c0006t0001a0001c0006t0013a0001c0011t0004others(5): Show | a0001c0006t0001g0058 a0001c0006t0001g0091 a0001c0006t0001g0128 others(32): Show |
37 | 374 | 0.0989 | -2 | c.487 others(19): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50897071 | GTT | G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(210): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0001t0001g0034 others(197): Show |
213 | 360 | 0.5917 | -2 | c.781 others(19): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50904989 | GTT | G | downstream_gene_variant | MODIFIER | HG01261.hp2 HG01884.hp1 HG02145.hp1 others(14): Show |
a0002a0008 | a0002c0002a0002c0004a0008c0017 | a0002c0002t0005a0002c0002t0006a0002c0002t0011others(4): Show | a0002c0002t0005g0022 a0002c0002t0005g0024 a0002c0002t0005g0153 others(14): Show |
17 | 374 | 0.0455 | -2 | c.*62 others(11): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 20 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50908020 | CAA | C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG01106.hp2 HG01517.hp2 others(19): Show |
a0001a0004a0007 | a0001c0001a0004c0007a0004c0009others(1): Show | a0001c0001t0001a0004c0007t0001a0004c0007t0003others(4): Show | a0001c0001t0001g0013 a0001c0001t0001g0094 a0001c0001t0001g0323 others(16): Show |
22 | 81 | 0.2716 | -2 | c.*36 others(13): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 3051 | chr14 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25300523 | CCT | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG00733.hp1 others(27): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0001 a0001c0002t0003g0180 a0001c0002t0003g0181 others(26): Show |
30 | 314 | 0.0955 | -2 | c.*32 others(11): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 13/13 | 320 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25303264 | CCT | C | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02258.hp2 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0240 a0001c0003t0002g0241 a0001c0003t0002g0244 others(5): Show |
8 | 314 | 0.0255 | -2 | c.102 others(19): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 11/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25318305 | ACT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(142): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0009a0001c0002t0002a0001c0002t0003others(7): Show | a0001c0001t0009g0287 a0001c0001t0009g0288 a0001c0001t0009g0289 others(139): Show |
145 | 314 | 0.4618 | -2 | c.543 others(19): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 4/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25318663 | CTT | C | intron_variant | MODIFIER | HG00099.hp2 HG01169.hp1 HG01169.hp2 others(4): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0003a0001c0003t0002 | a0001c0002t0002g0144 a0001c0002t0002g0154 a0001c0002t0002g0173 others(4): Show |
7 | 167 | 0.0419 | -2 | c.542 others(19): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 4/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25322362 | GAT | G | intron_variant | MODIFIER | HG01109.hp2 HG01346.hp2 HG02055.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0102 a0001c0001t0001g0125 a0001c0001t0001g0128 others(6): Show |
10 | 305 | 0.0328 | -2 | c.422 others(17): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25322381 | ATT | A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(64): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0022 others(64): Show |
67 | 159 | 0.4214 | -2 | c.422 others(17): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25325203 | CAA | C | intron_variant | MODIFIER | HG00544.hp2 HG00642.hp2 HG01123.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0009a0001c0002t0003others(1): Show | a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0117 others(8): Show |
11 | 75 | 0.1467 | -2 | c.317 others(19): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25342103 | CAA | C | intron_variant | MODIFIER | HG01975.hp2 HG02258.hp1 HG02976.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0007a0001c0002t0002others(2): Show | a0001c0001t0001g0099 a0001c0001t0007g0007 a0001c0002t0002g0154 others(3): Show |
6 | 63 | 0.0952 | -2 | c.192 others(19): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar |