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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HS3ST1_chr4_11388150_11433894 | 11429643 | C | CTTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0234 | 1 | 440 | 0.0023 | 18 | c.-10 others(29): Show |
HS3ST1 | ENSG00000002587.10 | transcript | ENST00000002596.6 | protein_coding | 750 | chr4 | TogoVar | |||||||
HS3ST2_chr16_22809162_22921338 | 22918377 | G | GGGGTGTG others(11): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(118): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(7): Show | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 others(118): Show |
121 | 350 | 0.3457 | 18 | c.*28 others(29): Show |
HS3ST2 | ENSG00000122254.7 | transcript | ENST00000261374.4 | protein_coding | 2040 | chr16 | TogoVar | |||||||
HS3ST2_chr16_22809162_22921338 | 22918377 | G | GGTGTGTG others(11): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 HG01109.hp2 HG01167.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0003others(4): Show | a0001c0001t0001g0199 a0001c0001t0001g0217 a0001c0001t0001g0246 others(24): Show |
27 | 350 | 0.0771 | 18 | c.*28 others(29): Show |
HS3ST2 | ENSG00000122254.7 | transcript | ENST00000261374.4 | protein_coding | 2040 | chr16 | TogoVar | |||||||
HS3ST3A1_chr17_13489032_13606929 | 13526474 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0155 | 1 | 338 | 0.0030 | 18 | c.600 others(37): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
HS3ST3A1_chr17_13489032_13606929 | 13550707 | A | AAACAACA others(11): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0017 | a0001c0017t0038 | a0001c0017t0038g0002 | 1 | 338 | 0.0030 | 18 | c.599 others(37): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
HS3ST3A1_chr17_13489032_13606929 | 13560289 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01361.hp1 HG03654.hp2 NA19086.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0008a0001c0002t0001 | a0001c0001t0002g0097 a0001c0001t0008g0065 a0001c0002t0001g0224 |
3 | 338 | 0.0089 | 18 | c.599 others(37): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
HS3ST3A1_chr17_13489032_13606929 | 13585186 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02080.hp1 HG02683.hp2 HG03704.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004 | a0001c0001t0002a0001c0001t0033a0002c0003t0007others(1): Show | a0001c0001t0002g0237 a0001c0001t0033g0296 a0001c0001t0033g0297 others(4): Show |
7 | 338 | 0.0207 | 18 | c.599 others(37): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
HS3ST3B1_chr17_14296081_14354404 | 14329360 | A | AAGGAAGG others(11): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0064 | 1 | 432 | 0.0023 | 18 | c.555 others(37): Show |
HS3ST3B1 | ENSG00000125430.9 | transcript | ENST00000360954.3 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
HS3ST3B1_chr17_14296081_14354404 | 14329366 | A | AAAGAAAG others(11): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0343 | 1 | 432 | 0.0023 | 18 | c.555 others(37): Show |
HS3ST3B1 | ENSG00000125430.9 | transcript | ENST00000360954.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HS3ST3B1_chr17_14296081_14354404 | 14330550 | G | GGTGTGTA others(11): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02630.hp2 HG02818.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0036a0001c0001t0062others(2): Show | a0001c0001t0027g0238 a0001c0001t0036g0306 a0001c0001t0036g0308 others(3): Show |
6 | 432 | 0.0139 | 18 | c.555 others(37): Show |
HS3ST3B1 | ENSG00000125430.9 | transcript | ENST00000360954.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HS3ST3B1_chr17_14296081_14354404 | 14330550 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0009 | 1 | 432 | 0.0023 | 18 | c.555 others(37): Show |
HS3ST3B1 | ENSG00000125430.9 | transcript | ENST00000360954.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HS3ST4_chr16_25686959_26142685 | 25828298 | T | TTCTTTCT others(11): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108 | 1 | 164 | 0.0061 | 18 | c.734 others(39): Show |
HS3ST4 | ENSG00000182601.7 | transcript | ENST00000331351.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HS3ST4_chr16_25686959_26142685 | 25828300 | C | CTTTCTTT others(11): Show |
intron_variant | MODIFIER | HG01243.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0073 a0001c0001t0004g0159 |
2 | 164 | 0.0122 | 18 | c.734 others(39): Show |
HS3ST4 | ENSG00000182601.7 | transcript | ENST00000331351.6 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
HS3ST4_chr16_25686959_26142685 | 26049404 | G | GGTCTACA others(11): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02109.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0149 a0001c0001t0004g0062 |
2 | 164 | 0.0122 | 18 | c.735 others(37): Show |
HS3ST4 | ENSG00000182601.7 | transcript | ENST00000331351.6 | protein_coding | 1/1 | chr16 | TogoVar | |||||||
HS3ST4_chr16_25686959_26142685 | 26120052 | A | AGTGTGTG others(11): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 164 | 0.0061 | 18 | c.735 others(37): Show |
HS3ST4 | ENSG00000182601.7 | transcript | ENST00000331351.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HS3ST5_chr6_114050596_114348023 | 114161521 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0039 | 1 | 206 | 0.0049 | 18 | c.-33 others(35): Show |
HS3ST5 | ENSG00000249853.9 | transcript | ENST00000312719.10 | protein_coding | 3/4 | chr6 | TogoVar | |||||||
HS3ST5_chr6_114050596_114348023 | 114341222 | G | GGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01433.hp2 HG02145.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0016a0001c0002t0008others(1): Show | a0001c0001t0006g0032 a0001c0001t0016g0087 a0001c0002t0008g0031 others(1): Show |
4 | 206 | 0.0194 | 18 | c.-33 others(35): Show |
HS3ST5 | ENSG00000249853.9 | transcript | ENST00000312719.10 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
HS3ST6_chr16_1906475_1923415 | 1920013 | C | CAGTCCCC others(11): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0012 | 1 | 433 | 0.0023 | 18 | c.-16 others(29): Show |
HS3ST6 | ENSG00000162040.7 | transcript | ENST00000454677.3 | protein_coding | 1599 | chr16 | TogoVar | |||||||
HS6ST1_chr2_128260480_128323868 | 128292018 | T | TCCGGCTC others(11): Show |
intron_variant | MODIFIER | HG01175.hp1 HG03041.hp1 HG03209.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008a0001c0001t0054 | a0001c0001t0007g0083 a0001c0001t0008g0081 a0001c0001t0008g0084 others(2): Show |
5 | 294 | 0.0170 | 18 | c.528 others(37): Show |
HS6ST1 | ENSG00000136720.7 | transcript | ENST00000259241.7 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
HS6ST2_chrX_132621015_132963629 | 132650741 | A | ATCTCTCT others(11): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02486.hp1 HG02622.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0002a0001c0002t0002a0001c0009t0002 | a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0002t0002g0004 others(1): Show |
4 | 201 | 0.0199 | 18 | c.106 others(39): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 4/4 | chrX | TogoVar | |||||||
HS6ST2_chrX_132621015_132963629 | 132709812 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03017.hp1 HG03209.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0062 a0001c0001t0001g0157 a0001c0001t0002g0077 others(3): Show |
6 | 201 | 0.0299 | 18 | c.948 others(35): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/4 | chrX | TogoVar | |||||||
HS6ST2_chrX_132621015_132963629 | 132741426 | A | AGTAGCTG others(11): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp2 others(103): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 others(103): Show |
106 | 201 | 0.5274 | 18 | c.948 others(37): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/4 | chrX | TogoVar | |||||||
HS6ST2_chrX_132621015_132963629 | 132756820 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0192 | 1 | 201 | 0.0050 | 18 | c.948 others(37): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/4 | chrX | TogoVar | |||||||
HS6ST2_chrX_132621015_132963629 | 132768862 | C | CACGTTTC others(11): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0078 | 1 | 201 | 0.0050 | 18 | c.948 others(37): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/4 | chrX | TogoVar | |||||||
HS6ST2_chrX_132621015_132963629 | 132794574 | G | GATGATGA others(11): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0194 | 1 | 201 | 0.0050 | 18 | c.948 others(37): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/4 | chrX | TogoVar | |||||||
HS6ST2_chrX_132621015_132963629 | 132794574 | G | GATGATGA others(11): Show |
intron_variant | MODIFIER | HG00438.hp2 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 a0001c0001t0001g0183 |
2 | 201 | 0.0100 | 18 | c.948 others(37): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/4 | chrX | TogoVar | |||||||
HS6ST2_chrX_132621015_132963629 | 132794574 | G | GATGATGA others(11): Show |
intron_variant | MODIFIER | HG02074.hp1 NA18949.hp2 NA19056.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0002g0191 others(1): Show |
4 | 201 | 0.0199 | 18 | c.948 others(37): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/4 | chrX | TogoVar | |||||||
HS6ST2_chrX_132621015_132963629 | 132794574 | G | GATGATTA others(11): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 201 | 0.0050 | 18 | c.948 others(37): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/4 | chrX | TogoVar | |||||||
HS6ST2_chrX_132621015_132963629 | 132823853 | A | AAATAATA others(11): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0008 | a0001c0008t0008 | a0001c0008t0008g0087 | 1 | 201 | 0.0050 | 18 | c.948 others(39): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/4 | chrX | TogoVar | |||||||
HS6ST2_chrX_132621015_132963629 | 132829199 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01169.hp2 HG01255.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0034 a0001c0001t0001g0057 a0001c0001t0001g0061 others(19): Show |
22 | 201 | 0.1095 | 18 | c.948 others(39): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/4 | chrX | TogoVar | |||||||
HS6ST2_chrX_132621015_132963629 | 132898381 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 201 | 0.0050 | 18 | c.947 others(37): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/4 | chrX | TogoVar | |||||||
HS6ST3_chr13_96085107_96844562 | 96095863 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0072 | 1 | 116 | 0.0086 | 18 | c.707 others(35): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96112578 | A | AATATACA others(11): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02809.hp2 HG03486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0030 | a0001c0001t0002g0073 a0001c0001t0002g0079 a0001c0001t0008g0072 others(1): Show |
4 | 116 | 0.0345 | 18 | c.707 others(37): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96112578 | A | AATATACA others(11): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01074.hp1 HG01261.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0049 a0001c0001t0002g0002 a0001c0001t0002g0113 others(7): Show |
10 | 116 | 0.0862 | 18 | c.707 others(37): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96122110 | G | GTATTATT others(11): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02647.hp2 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0025others(1): Show | a0001c0001t0002g0009 a0001c0001t0007g0007 a0001c0001t0025g0008 others(1): Show |
4 | 116 | 0.0345 | 18 | c.707 others(37): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96184221 | A | AAAAGAGA others(11): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0014 | 1 | 116 | 0.0086 | 18 | c.707 others(37): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96304711 | C | CTTTCTTT others(11): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0108 | 1 | 116 | 0.0086 | 18 | c.707 others(39): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96351335 | T | TTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0064 | 1 | 116 | 0.0086 | 18 | c.707 others(39): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
HS6ST3_chr13_96085107_96844562 | 96351335 | T | TTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03130.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0035 | a0001c0001t0013g0107 a0001c0001t0013g0108 a0001c0001t0035g0106 |
3 | 116 | 0.0259 | 18 | c.707 others(39): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
HS6ST3_chr13_96085107_96844562 | 96459100 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02486.hp1 HG03195.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0014others(1): Show | a0001c0001t0002g0079 a0001c0001t0009g0028 a0001c0001t0014g0090 others(1): Show |
4 | 116 | 0.0345 | 18 | c.707 others(39): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96464138 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01071.hp2 HG01106.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0067 others(8): Show |
11 | 116 | 0.0948 | 18 | c.708 others(39): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96688213 | T | TATAATAA others(11): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01109.hp2 HG02258.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0041 a0001c0001t0001g0082 a0001c0001t0001g0083 others(5): Show |
8 | 116 | 0.0690 | 18 | c.708 others(39): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HSBP1L1_chr18_79959643_79975822 | 79969308 | G | GGAAAGAA others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG02027.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0025 a0001c0001t0003g0115 a0001c0001t0003g0122 |
5 | 412 | 0.0121 | 18 | c.213 others(35): Show |
HSBP1L1 | ENSG00000226742.4 | transcript | ENST00000451882.3 | protein_coding | 3/3 | chr18 | TogoVar | |||||||
HSBP1L1_chr18_79959643_79975822 | 79969309 | A | AGGAAAGA others(11): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 412 | 0.0024 | 18 | c.213 others(35): Show |
HSBP1L1 | ENSG00000226742.4 | transcript | ENST00000451882.3 | protein_coding | 3/3 | chr18 | TogoVar | |||||||
HSBP1_chr16_83802978_83824737 | 83820798 | C | CTCTCTCT others(11): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG01169.hp2 HG01261.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0037a0001c0001t0098others(1): Show | a0001c0001t0006g0003 a0001c0001t0037g0003 a0001c0001t0098g0003 others(1): Show |
5 | 468 | 0.0107 | 18 | c.*93 others(29): Show |
HSBP1 | ENSG00000230989.8 | transcript | ENST00000433866.7 | protein_coding | 1062 | chr16 | TogoVar | |||||||
HSCB_chr22_28737039_28762510 | 28750945 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00597.hp1 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0026 others(22): Show |
40 | 410 | 0.0976 | 18 | c.569 others(33): Show |
HSCB | ENSG00000100209.11 | transcript | ENST00000216027.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
HSD11B1_chr1_209699846_209739929 | 209709937 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00673.hp1 HG02135.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0201 a0001c0001t0001g0202 others(2): Show |
7 | 400 | 0.0175 | 18 | c.517 others(35): Show |
HSD11B1 | ENSG00000117594.10 | transcript | ENST00000367027.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HSD17B12_chr11_43675738_43861615 | 43676208 | G | GGTGTGTG others(11): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0002 | 1 | 280 | 0.0036 | 18 | c.-46 others(29): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 4529 | chr11 | TogoVar | |||||||
HSD17B12_chr11_43675738_43861615 | 43690400 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01496.hp1 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 others(1): Show |
4 | 280 | 0.0143 | 18 | c.160 others(35): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HSD17B12_chr11_43675738_43861615 | 43690404 | A | ATATATTT others(11): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0142 | 1 | 280 | 0.0036 | 18 | c.160 others(35): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |