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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADGRL2_chr1_81795934_81998932 | 81993087 | ATTTTTTT others(4): Show |
A | 3_prime_UTR_variant | MODIFIER | HG03195.hp2 NA18962.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0073a0003c0004t0072 | a0001c0001t0073g0141 a0003c0004t0072g0138 |
2 | 191 | 0.0105 | -11 | c.*19 others(22): Show |
ADGRL2 | ENSG00000117114.21 | transcript | ENST00000686636.1 | protein_coding | 24/24 | 1964 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ADGRL3_chr4_61195326_62083335 | 61244886 | TTGCTTAT others(4): Show |
T | intron_variant | MODIFIER | HG03579.hp2 NA18522.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0016a0001c0004t0025 | a0001c0001t0002g0014 a0001c0001t0016g0002 a0001c0004t0025g0010 |
3 | 56 | 0.0536 | -11 | c.-24 others(32): Show |
ADGRL3 | ENSG00000150471.17 | transcript | ENST00000683033.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ADGRL3_chr4_61195326_62083335 | 61629721 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG03017.hp1 HG03017.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0009 | a0001c0001t0001g0049 a0001c0004t0009g0012 |
2 | 3 | 0.6667 | -11 | c.473 others(30): Show |
ADGRL3 | ENSG00000150471.17 | transcript | ENST00000683033.1 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ADGRL3_chr4_61195326_62083335 | 61856604 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02486.hp1 |
a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0023 a0001c0008t0004g0029 |
2 | 37 | 0.0541 | -11 | c.148 others(32): Show |
ADGRL3 | ENSG00000150471.17 | transcript | ENST00000683033.1 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ADGRL3_chr4_61195326_62083335 | 62023901 | TTGCATGC others(4): Show |
T | intron_variant | MODIFIER | HG01169.hp2 HG02451.hp2 HG02486.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0002a0001c0001t0012a0001c0002t0026others(6): Show | a0001c0001t0002g0014 a0001c0001t0012g0042 a0001c0002t0026g0027 others(6): Show |
9 | 56 | 0.1607 | -11 | c.339 others(30): Show |
ADGRL3 | ENSG00000150471.17 | transcript | ENST00000683033.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ADGRL4_chr1_78884764_79011730 | 78903967 | AAATAAAT others(4): Show |
A | intron_variant | MODIFIER | HG02074.hp1 HG02698.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0185 a0002c0002t0001g0327 |
2 | 388 | 0.0052 | -11 | c.175 others(32): Show |
ADGRL4 | ENSG00000162618.15 | transcript | ENST00000370742.4 | protein_coding | 12/14 | chr1 | TogoVar | |||||||
ADGRL4_chr1_78884764_79011730 | 78942173 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00544.hp1 others(59): Show |
a0001a0012 | a0001c0001a0012c0014 | a0001c0001t0002a0001c0001t0003a0001c0001t0013others(2): Show | a0001c0001t0002g0003 a0001c0001t0002g0010 a0001c0001t0002g0011 others(55): Show |
62 | 138 | 0.4493 | -11 | c.326 others(28): Show |
ADGRL4 | ENSG00000162618.15 | transcript | ENST00000370742.4 | protein_coding | 3/14 | chr1 | TogoVar | |||||||
ADGRV1_chr5_90553797_91169437 | 90569381 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG00741.hp2 | a0007 | a0007c0019 | a0007c0019t0001 | a0007c0019t0001g0064 | 1 | 138 | 0.0072 | -11 | c.22+ others(28): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 1/89 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADGRV1_chr5_90553797_91169437 | 90813132 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02258.hp2 HG02615.hp1 others(2): Show |
a0002a0009a0051others(1): Show | a0002c0002a0009c0009a0051c0083others(1): Show | a0002c0002t0001a0009c0009t0001a0051c0083t0001others(1): Show | a0002c0002t0001g0071 a0002c0002t0001g0098 a0009c0009t0001g0149 others(2): Show |
5 | 11 | 0.4545 | -11 | c.160 others(32): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 74/89 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADH1B_chr4_99299971_99326401 | 99315594 | TGCTCTCT others(4): Show |
T | intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0009 | a0001c0009t0003 | a0001c0009t0003g0088 | 1 | 362 | 0.0028 | -11 | c.567 others(26): Show |
ADH1B | ENSG00000196616.15 | transcript | ENST00000305046.13 | protein_coding | 5/8 | chr4 | TogoVar | |||||||
ADH5_chr4_99065978_99093788 | 99083600 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 63 | 0.0159 | -11 | c.115 others(28): Show |
ADH5 | ENSG00000197894.12 | transcript | ENST00000296412.14 | protein_coding | 2/8 | chr4 | TogoVar | |||||||
ADHFE1_chr8_66427504_66473907 | 66435601 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 102 | 0.0098 | -11 | c.59+ others(26): Show |
ADHFE1 | ENSG00000147576.17 | transcript | ENST00000396623.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADHFE1_chr8_66427504_66473907 | 66443264 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG03041.hp2 HG03139.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 a0001c0001t0004g0169 a0001c0001t0004g0170 others(12): Show |
19 | 77 | 0.2468 | -11 | c.144 others(26): Show |
ADHFE1 | ENSG00000147576.17 | transcript | ENST00000396623.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADI1_chr2_3492366_3524531 | 3502031 | ACACACAC others(4): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00558.hp1 others(76): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0166 others(52): Show |
79 | 390 | 0.2026 | -11 | c.241 others(28): Show |
ADI1 | ENSG00000182551.14 | transcript | ENST00000327435.11 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
ADI1_chr2_3492366_3524531 | 3508334 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp2 HG02723.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0016 a0001c0001t0004g0023 a0001c0001t0004g0059 others(2): Show |
11 | 143 | 0.0769 | -11 | c.240 others(28): Show |
ADI1 | ENSG00000182551.14 | transcript | ENST00000327435.11 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
ADI1_chr2_3492366_3524531 | 3516474 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0196 | 1 | 211 | 0.0047 | -11 | c.121 others(28): Show |
ADI1 | ENSG00000182551.14 | transcript | ENST00000327435.11 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
ADI1_chr2_3492366_3524531 | 3521329 | GTGGCTCA others(4): Show |
G | upstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0107 | 1 | 390 | 0.0026 | -11 | c.-18 others(22): Show |
ADI1 | ENSG00000182551.14 | transcript | ENST00000327435.11 | protein_coding | 1799 | chr2 | TogoVar | |||||||
ADIPOR1_chr1_202935832_202963312 | 202938061 | TAAAAAAG others(4): Show |
T | downstream_gene_variant | MODIFIER | HG02630.hp1 HG02717.hp2 HG02723.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0154 others(3): Show |
8 | 392 | 0.0204 | -11 | c.*35 others(22): Show |
ADIPOR1 | ENSG00000159346.13 | transcript | ENST00000340990.10 | protein_coding | 2770 | chr1 | TogoVar | |||||||
ADIPOR1_chr1_202935832_202963312 | 202961050 | CTGGAGGT others(4): Show |
C | upstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 440 | 0.0023 | -11 | c.-29 others(22): Show |
ADIPOR1 | ENSG00000159346.13 | transcript | ENST00000340990.10 | protein_coding | 2739 | chr1 | TogoVar | |||||||
ADIPOR2_chr12_1686070_1793674 | 1729617 | GTTTTTTT others(4): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp2 others(129): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(127): Show |
132 | 240 | 0.5500 | -11 | c.-86 others(30): Show |
ADIPOR2 | ENSG00000006831.10 | transcript | ENST00000357103.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ADIPOR2_chr12_1686070_1793674 | 1782976 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | NA18954.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0002g0162 |
2 | 110 | 0.0182 | -11 | c.839 others(26): Show |
ADIPOR2 | ENSG00000006831.10 | transcript | ENST00000357103.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ADISSP_chr20_3748508_3772753 | 3752176 | GGCGCGGT others(4): Show |
G | downstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 444 | 0.0023 | -11 | c.*18 others(22): Show |
ADISSP | ENSG00000101220.18 | transcript | ENST00000379772.4 | protein_coding | 1331 | chr20 | TogoVar | |||||||
ADK_chr10_74146221_74714290 | 74149267 | GTTTTTTT others(4): Show |
G | upstream_gene_variant | MODIFIER | HG01515.hp2 HG02083.hp2 HG02165.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 others(2): Show |
5 | 33 | 0.1515 | -11 | c.-20 others(22): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 1953 | chr10 | TogoVar | |||||||
ADK_chr10_74146221_74714290 | 74279280 | AAAAAAAT others(4): Show |
A | intron_variant | MODIFIER | HG02970.hp1 HG03239.hp2 NA19240.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0020 others(1): Show |
4 | 198 | 0.0202 | -11 | c.195 others(30): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADK_chr10_74146221_74714290 | 74302098 | TTTGTTTG others(4): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG02055.hp2 HG02145.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0181 others(2): Show |
5 | 151 | 0.0331 | -11 | c.195 others(30): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADK_chr10_74146221_74714290 | 74303585 | GTTGTTTT others(4): Show |
G | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 147 | 0.0068 | -11 | c.195 others(30): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADK_chr10_74146221_74714290 | 74424535 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 | 1 | 39 | 0.0256 | -11 | c.555 others(30): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADM5_chr19_49684594_49695575 | 49694080 | AAAATAAA others(4): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00642.hp2 others(16): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0001a0001c0005t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0001 a0001c0005t0001g0001 a0002c0003t0001g0001 others(1): Show |
19 | 389 | 0.0488 | -11 | c.*35 others(22): Show |
ADM5 | ENSG00000224420.4 | transcript | ENST00000420022.4 | protein_coding | 3506 | chr19 | TogoVar | |||||||
ADM_chr11_10300073_10312397 | 10302760 | AGGCAGCG others(4): Show |
A | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01071.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0002g0003 others(2): Show |
14 | 406 | 0.0345 | -11 | c.-24 others(22): Show |
ADM | ENSG00000148926.10 | transcript | ENST00000278175.10 | protein_coding | 2312 | chr11 | TogoVar | |||||||
ADNP2_chr18_80104262_80145346 | 80129095 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(106): Show |
a0001a0005 | a0001c0002a0001c0006a0001c0007others(2): Show | a0001c0002t0001a0001c0002t0005a0001c0002t0006others(7): Show | a0001c0002t0001g0001 a0001c0002t0001g0007 a0001c0002t0001g0010 others(65): Show |
109 | 385 | 0.2831 | -11 | c.109 others(28): Show |
ADNP2 | ENSG00000101544.9 | transcript | ENST00000262198.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ADNP_chr20_50883918_50936437 | 50913250 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | NA18991.hp2 NA19001.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0229 a0001c0001t0009g0073 |
2 | 9 | 0.2222 | -11 | c.-89 others(28): Show |
ADNP | ENSG00000101126.18 | transcript | ENST00000621696.5 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
ADNP_chr20_50883918_50936437 | 50915786 | AAAAAGGG others(4): Show |
A | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0150 | 1 | 356 | 0.0028 | -11 | c.-89 others(30): Show |
ADNP | ENSG00000101126.18 | transcript | ENST00000621696.5 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
ADNP_chr20_50883918_50936437 | 50917328 | TTCCATCA others(4): Show |
T | intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0192 | 1 | 356 | 0.0028 | -11 | c.-90 others(30): Show |
ADNP | ENSG00000101126.18 | transcript | ENST00000621696.5 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
ADORA2B_chr17_15940130_15980746 | 15976067 | GAAAAAAA others(4): Show |
G | downstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 276 | 0.0036 | -11 | c.*72 others(20): Show |
ADORA2B | ENSG00000170425.4 | transcript | ENST00000304222.3 | protein_coding | 322 | chr17 | TogoVar | |||||||
ADORA2B_chr17_15940130_15980746 | 15976093 | AAAAAAAT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 341 | 0.0029 | -11 | c.*75 others(20): Show |
ADORA2B | ENSG00000170425.4 | transcript | ENST00000304222.3 | protein_coding | 348 | chr17 | TogoVar | |||||||
ADORA2B_chr17_15940130_15980746 | 15976099 | ATATATAT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0057 | 1 | 324 | 0.0031 | -11 | c.*75 others(20): Show |
ADORA2B | ENSG00000170425.4 | transcript | ENST00000304222.3 | protein_coding | 354 | chr17 | TogoVar | |||||||
ADORA3_chr1_111494429_111508633 | 111505124 | CAAAAAAA others(4): Show |
C | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00621.hp1 others(62): Show |
a0001a0005a0007 | a0001c0001a0001c0002a0005c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(2): Show | a0001c0001t0001g0013 a0001c0001t0002g0003 a0001c0001t0002g0008 others(5): Show |
65 | 287 | 0.2265 | -11 | c.-17 others(22): Show |
ADORA3 | ENSG00000282608.2 | transcript | ENST00000241356.5 | protein_coding | 1492 | chr1 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113415750 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02135.hp2 HG02809.hp2 others(3): Show |
a0002a0015 | a0002c0006a0002c0036a0015c0051 | a0002c0006t0013a0002c0006t0101a0002c0006t0103others(2): Show | a0002c0006t0013g0056 a0002c0006t0013g0241 a0002c0006t0101g0066 others(3): Show |
6 | 144 | 0.0417 | -11 | c.106 others(30): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
ADPRHL1_chr13_113394611_113458488 | 113417141 | CCGGATGC others(4): Show |
C | intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 260 | 0.0038 | -11 | c.106 others(30): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
ADRA1B_chr5_159911482_159978012 | 159957929 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 235 | 0.0043 | -11 | c.950 others(30): Show |
ADRA1B | ENSG00000170214.5 | transcript | ENST00000306675.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADRA1B_chr5_159911482_159978012 | 159957947 | AAAAAAGA others(4): Show |
A | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 380 | 0.0026 | -11 | c.950 others(30): Show |
ADRA1B | ENSG00000170214.5 | transcript | ENST00000306675.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADRA2A_chr10_111072029_111085907 | 111082732 | GGAAATTA others(4): Show |
G | downstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 430 | 0.0023 | -11 | c.*33 others(22): Show |
ADRA2A | ENSG00000150594.7 | transcript | ENST00000280155.4 | protein_coding | 1826 | chr10 | TogoVar | |||||||
ADRA2B_chr2_96107876_96121571 | 96111124 | AGCCCAGC others(4): Show |
A | downstream_gene_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 388 | 0.0026 | -11 | c.*36 others(22): Show |
ADRA2B | ENSG00000274286.2 | transcript | ENST00000620793.2 | protein_coding | 1751 | chr2 | TogoVar | |||||||
ADRA2B_chr2_96107876_96121571 | 96111440 | ATCACAGC others(4): Show |
A | downstream_gene_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 388 | 0.0026 | -11 | c.*33 others(22): Show |
ADRA2B | ENSG00000274286.2 | transcript | ENST00000620793.2 | protein_coding | 1435 | chr2 | TogoVar | |||||||
ADRA2B_chr2_96107876_96121571 | 96115782 | TTGGAGTT others(4): Show |
T | frameshift_variant | HIGH | NA18999.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0000 | 1 | 388 | 0.0026 | -11 | c.357 others(18): Show |
p.Tyr others(5): Show |
ADRA2B | ENSG00000274286.2 | transcript | ENST00000620793.2 | protein_coding | 1/1 | 789/3696 | 357/1353 | 119/450 | chr2 | TogoVar | |||
ADRB3_chr8_37957990_37971599 | 37958975 | AAAAAAAA others(4): Show |
A | downstream_gene_variant | MODIFIER | HG02615.hp1 | a0008 | a0008c0010 | a0008c0010t0003 | a0008c0010t0003g0023 | 1 | 360 | 0.0028 | -11 | c.*52 others(22): Show |
ADRB3 | ENSG00000188778.6 | transcript | ENST00000345060.5 | protein_coding | 4014 | chr8 | TogoVar | |||||||
ADRM1_chr20_62297997_62313862 | 62299594 | CAAAAAAA others(4): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02559.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 3 | 13 | 0.2308 | -11 | c.-34 others(22): Show |
ADRM1 | ENSG00000130706.13 | transcript | ENST00000253003.7 | protein_coding | 3402 | chr20 | TogoVar | |||||||
ADSL_chr22_40341500_40374367 | 40344371 | CAAAAAAA others(4): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02109.hp2 HG02145.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0003g0006 a0001c0001t0003g0025 a0001c0001t0004g0149 others(2): Show |
12 | 216 | 0.0556 | -11 | c.-21 others(22): Show |
ADSL | ENSG00000239900.14 | transcript | ENST00000623063.3 | protein_coding | 2128 | chr22 | TogoVar | |||||||
ADSL_chr22_40341500_40374367 | 40344389 | AAAAAAAA others(4): Show |
A | upstream_gene_variant | MODIFIER | NA18942.hp2 NA18955.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0137 a0001c0001t0002g0136 |
2 | 300 | 0.0067 | -11 | c.-21 others(22): Show |
ADSL | ENSG00000239900.14 | transcript | ENST00000623063.3 | protein_coding | 2110 | chr22 | TogoVar | |||||||
ADSS2_chr1_244403494_244456909 | 244433859 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 200 | 0.0050 | -11 | c.356 others(28): Show |
ADSS2 | ENSG00000035687.10 | transcript | ENST00000366535.4 | protein_coding | 3/12 | chr1 | TogoVar |