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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A4GALT_chr22_42687121_42725870 | 42706795 | A | AAAAAAAA others(41): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0157 | 1 | 404 | 0.0025 | 48 | c.-18 others(69): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42708545 | A | AGAAGGAA others(41): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0130 | 1 | 74 | 0.0135 | 48 | c.-18 others(69): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
AADACL4_chr1_12639085_12672076 | 12658139 | C | CCTTCCTT others(41): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 244 | 0.0041 | 48 | c.386 others(65): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AADACL4_chr1_12639085_12672076 | 12658139 | C | CCTTCCTT others(41): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0225 | 1 | 244 | 0.0041 | 48 | c.386 others(65): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81140694 | T | TGGGGCCG others(41): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG00733.hp2 others(36): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0011a0002c0002others(14): Show | a0001c0001t0001a0001c0011t0001a0002c0002t0001others(17): Show | a0001c0001t0001g0006 a0001c0001t0001g0092 a0001c0001t0001g0141 others(32): Show |
39 | 362 | 0.1077 | 48 | c.56- others(63): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8737985 | G | GAAGAAAG others(41): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01952.hp2 HG02040.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0240 a0001c0001t0002g0273 a0001c0001t0002g0350 others(3): Show |
6 | 275 | 0.0218 | 48 | c.70+ others(63): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8737989 | G | GAAGAAAG others(41): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00741.hp1 HG01258.hp1 others(4): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0003t0003others(3): Show | a0001c0001t0002g0074 a0001c0001t0002g0082 a0001c0001t0005g0226 others(4): Show |
7 | 78 | 0.0897 | 48 | c.70+ others(63): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8737989 | G | GAAGGAAG others(41): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01099.hp2 HG01257.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(1): Show | a0001c0001t0001g0070 a0001c0001t0001g0322 a0001c0001t0003g0249 others(3): Show |
6 | 77 | 0.0779 | 48 | c.70+ others(63): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8737989 | G | GAAGGAAG others(41): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01071.hp2 HG02027.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0004others(3): Show | a0001c0001t0001g0281 a0001c0003t0002g0052 a0001c0003t0002g0170 others(4): Show |
7 | 78 | 0.0897 | 48 | c.70+ others(63): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8737989 | G | GAAGGAAG others(41): Show |
intron_variant | MODIFIER | HG01516.hp2 HG02040.hp1 HG02132.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001a0002c0004t0003 | a0001c0001t0001g0211 a0002c0004t0001g0115 a0002c0004t0003g0128 |
3 | 74 | 0.0405 | 48 | c.70+ others(63): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8737989 | G | GAAGGAAG others(41): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0176 | 1 | 72 | 0.0139 | 48 | c.70+ others(63): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69177968 | A | ATTTTTAT others(41): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0184 | 1 | 346 | 0.0029 | 48 | c.277 others(67): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 22/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69177969 | A | AATATATA others(41): Show |
intron_variant | MODIFIER | HG01123.hp1 NA20752.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0061 a0002c0002t0001g0063 |
2 | 316 | 0.0063 | 48 | c.277 others(67): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 22/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69177970 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG02293.hp2 HG02809.hp1 |
a0002a0005 | a0002c0002a0005c0014 | a0002c0002t0001a0005c0014t0001 | a0002c0002t0001g0146 a0005c0014t0001g0224 |
2 | 333 | 0.0060 | 48 | c.277 others(67): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 22/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69177971 | A | AATATATA others(41): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0275 | 1 | 210 | 0.0048 | 48 | c.277 others(67): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 22/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303785 | A | AAAAAAAA others(41): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0045 | 1 | 237 | 0.0042 | 48 | c.931 others(63): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA7_chr19_1035107_1070572 | 1049901 | C | CCCCCACC others(41): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0007 | a0007c0021 | a0007c0021t0001 | a0007c0021t0001g0001 | 1 | 26 | 0.0385 | 48 | c.255 others(65): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ABCA8_chr17_68862289_68960392 | 68958518 | A | AATTAATA others(41): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 | a0018 | a0018c0057 | a0018c0057t0004 | a0018c0057t0004g0133 | 1 | 266 | 0.0038 | 48 | c.-34 others(59): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3127 | chr17 | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 15999836 | C | CCTCTCTC others(41): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0008 | a0001c0008t0009 | a0001c0008t0009g0016 | 1 | 104 | 0.0096 | 48 | c.49- others(63): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | chr16 | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 15999836 | C | CTCTCTCT others(41): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0094 | 1 | 104 | 0.0096 | 48 | c.49- others(63): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC2_chr10_99777640_99857594 | 99814660 | T | TGTGTATA others(41): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0163 | 1 | 326 | 0.0031 | 48 | c.209 others(67): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 16/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ABCC2_chr10_99777640_99857594 | 99838335 | C | CCCCCCAC others(41): Show |
intron_variant | MODIFIER | HG03471.hp2 HG03486.hp1 |
a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0023 a0001c0014t0001g0130 |
2 | 334 | 0.0060 | 48 | c.361 others(67): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 25/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42298265 | T | TTATTATA others(41): Show |
downstream_gene_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0178 | 1 | 352 | 0.0028 | 48 | c.*18 others(59): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 1022 | chr21 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88115256 | C | CTCTCTCT others(41): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 168 | 0.0060 | 48 | c.842 others(63): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88115256 | C | CTCTCTCT others(41): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0220 | 1 | 168 | 0.0060 | 48 | c.842 others(63): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 7/15 | chr4 | TogoVar | |||||||
ABCG8_chr2_43833971_43887988 | 43864868 | A | ATAGGACT others(41): Show |
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 | 48 | c.965 others(65): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 6/12 | chr2 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAAAGAAA others(41): Show |
upstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 117 | 0.0085 | 48 | c.-11 others(59): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAAAGAAA others(41): Show |
upstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 117 | 0.0085 | 48 | c.-11 others(59): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAAAGAAA others(41): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 117 | 0.0085 | 48 | c.-11 others(59): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAAAGAGA others(41): Show |
upstream_gene_variant | MODIFIER | HG01978.hp1 | a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0150 | 1 | 117 | 0.0085 | 48 | c.-11 others(59): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50871026 | A | AAAGAAAG others(41): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG03540.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0235 a0002c0002t0002g0320 |
2 | 198 | 0.0101 | 48 | c.-11 others(59): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1026 | chr14 | TogoVar | |||||||
ABHD5_chr3_43685938_43727725 | 43694066 | G | GGGAGGCC others(41): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00738.hp2 HG01070.hp2 others(80): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0003a0001c0001t0006a0001c0001t0008others(17): Show | a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0012 others(56): Show |
83 | 284 | 0.2923 | 48 | c.47+ others(63): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58286848 | G | GTATATAT others(41): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0134 | 1 | 84 | 0.0119 | 48 | c.837 others(65): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58286848 | G | GTATATAT others(41): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00673.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 a0001c0001t0002g0081 a0001c0001t0002g0082 others(7): Show |
10 | 93 | 0.1075 | 48 | c.837 others(65): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58286848 | G | GTATATAT others(41): Show |
intron_variant | MODIFIER | HG02015.hp2 HG03927.hp2 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 a0001c0001t0002g0103 a0001c0001t0002g0135 |
3 | 86 | 0.0349 | 48 | c.837 others(65): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58286848 | G | GTATATAT others(41): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0157 | 1 | 84 | 0.0119 | 48 | c.837 others(65): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58286850 | G | GTATATAT others(41): Show |
intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077 | 1 | 39 | 0.0256 | 48 | c.837 others(65): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203338983 | A | AATATATA others(41): Show |
intron_variant | MODIFIER | NA18969.hp1 NA19064.hp2 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0012 | a0001c0001t0004g0128 a0001c0001t0012g0129 a0001c0001t0012g0130 |
3 | 21 | 0.1429 | 48 | c.117 others(67): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1048672 | C | CGCCTGGA others(41): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0110 | 1 | 336 | 0.0030 | 48 | c.179 others(67): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1153445 | G | GCCTGCGG others(41): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0250 | 1 | 114 | 0.0088 | 48 | c.61+ others(65): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109209918 | T | TGTATATA others(41): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0016 | a0001c0016t0011 | a0001c0016t0011g0272 | 1 | 306 | 0.0033 | 48 | c.324 others(65): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | chr12 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109210165 | A | ATATGTAT others(41): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0009 | a0009c0096 | a0009c0096t0009 | a0009c0096t0009g0294 | 1 | 217 | 0.0046 | 48 | c.324 others(65): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109210235 | A | ATATATAC others(41): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0002 | a0002c0043 | a0002c0043t0003 | a0002c0043t0003g0046 | 1 | 166 | 0.0060 | 48 | c.324 others(65): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACCS_chr11_44061270_44089237 | 44074734 | C | CTCTTTCT others(41): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02083.hp2 HG02818.hp1 others(4): Show |
a0002a0003a0004others(1): Show | a0002c0004a0003c0002a0004c0005others(1): Show | a0002c0004t0001a0003c0002t0002a0004c0005t0001others(1): Show | a0002c0004t0001g0078 a0003c0002t0002g0030 a0004c0005t0001g0054 others(1): Show |
7 | 254 | 0.0276 | 48 | c.489 others(61): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACCS_chr11_44061270_44089237 | 44074750 | T | TTCTTTCT others(41): Show |
intron_variant | MODIFIER | HG01255.hp1 NA18968.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 2 | 236 | 0.0085 | 48 | c.489 others(61): Show |
ACCS | ENSG00000110455.14 | transcript | ENST00000263776.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134834807 | A | AGGAAGGA others(41): Show |
upstream_gene_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 286 | 0.0035 | 48 | c.-38 others(59): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 3808 | chr2 | TogoVar | |||||||
ACMSD_chr2_134833616_134907034 | 134834851 | G | GGGAGGGA others(41): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 128 | 0.0078 | 48 | c.-38 others(59): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 3764 | chr2 | TogoVar | |||||||
ACMSD_chr2_134833616_134907034 | 134834851 | G | GGGAGGGA others(41): Show |
upstream_gene_variant | MODIFIER | NA18942.hp1 NA19072.hp1 NA19072.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 a0001c0001t0001g0216 a0001c0001t0001g0255 |
3 | 130 | 0.0231 | 48 | c.-38 others(59): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 3764 | chr2 | TogoVar | |||||||
ACOT11_chr1_54543228_54615329 | 54561917 | C | CCCCCCCA others(41): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG00735.hp1 others(30): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0002c0015others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0028 a0001c0001t0001g0100 a0001c0001t0001g0276 others(30): Show |
33 | 314 | 0.1051 | 48 | c.33+ others(65): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACOT11_chr1_54543228_54615329 | 54561917 | C | CCCCCCCA others(41): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0257 | 1 | 282 | 0.0035 | 48 | c.33+ others(65): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |