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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HOMER2_chr15_82843983_82957720 | 82868541 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0330 | 1 | 348 | 0.0029 | 30 | c.295 others(47): Show |
HOMER2 | ENSG00000103942.13 | transcript | ENST00000450735.7 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
HOMEZ_chr14_23267422_23291132 | 23280696 | T | TTTTATTT others(23): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02738.hp2 HG03017.hp1 others(7): Show |
a0004a0016 | a0004c0004a0016c0025 | a0004c0004t0002a0016c0025t0002 | a0004c0004t0002g0007 a0004c0004t0002g0049 a0004c0004t0002g0165 others(3): Show |
10 | 394 | 0.0254 | 30 | c.41- others(45): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
HOMEZ_chr14_23267422_23291132 | 23280710 | T | TTTTTATT others(23): Show |
intron_variant | MODIFIER | NA19009.hp1 NA19077.hp1 NA19087.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 3 | 394 | 0.0076 | 30 | c.41- others(45): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
HOMEZ_chr14_23267422_23291132 | 23280740 | A | ATTATTTT others(23): Show |
intron_variant | MODIFIER | NA19066.hp2 NA19090.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0195 a0002c0002t0002g0247 |
2 | 394 | 0.0051 | 30 | c.41- others(45): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
HOMEZ_chr14_23267422_23291132 | 23280740 | A | ATTTTATT others(23): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0248 | 1 | 394 | 0.0025 | 30 | c.41- others(45): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
HOMEZ_chr14_23267422_23291132 | 23280740 | A | ATTTTATT others(23): Show |
intron_variant | MODIFIER | HG02965.hp1 NA20129.hp1 |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0001a0007c0009t0031 | a0001c0001t0001g0073 a0007c0009t0031g0054 |
2 | 394 | 0.0051 | 30 | c.41- others(45): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
HOMEZ_chr14_23267422_23291132 | 23280740 | A | ATTTTATT others(23): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02559.hp1 NA18952.hp2 others(1): Show |
a0001a0006 | a0001c0001a0006c0005 | a0001c0001t0001a0006c0005t0002 | a0001c0001t0001g0057 a0001c0001t0001g0079 a0001c0001t0001g0177 others(1): Show |
4 | 394 | 0.0102 | 30 | c.41- others(45): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
HORMAD2_chr22_30075464_30182075 | 30175237 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01074.hp2 HG01168.hp1 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0056 others(44): Show |
48 | 350 | 0.1371 | 30 | c.820 others(45): Show |
HORMAD2 | ENSG00000176635.18 | transcript | ENST00000336726.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
HOXA13_chr7_27189364_27205091 | 27202822 | T | TAAAAAAA others(23): Show |
upstream_gene_variant | MODIFIER | HG01981.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0003g0003 |
2 | 416 | 0.0048 | 30 | c.-27 others(41): Show |
HOXA13 | ENSG00000106031.9 | transcript | ENST00000649031.1 | protein_coding | 2732 | chr7 | TogoVar | |||||||
HOXA3_chr7_27102010_27157583 | 27140001 | C | CAGAGAGA others(23): Show |
intron_variant | MODIFIER | HG02083.hp2 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0015 | a0001c0001t0008g0273 a0001c0001t0015g0306 |
2 | 326 | 0.0061 | 30 | c.-39 others(45): Show |
HOXA3 | ENSG00000105997.23 | transcript | ENST00000612286.5 | protein_coding | 2/5 | chr7 | TogoVar | |||||||
HOXA5_chr7_27136052_27148681 | 27140001 | C | CAGAGAGA others(23): Show |
downstream_gene_variant | MODIFIER | HG02083.hp2 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0003 a0001c0001t0005g0005 |
2 | 398 | 0.0050 | 30 | c.*18 others(41): Show |
HOXA5 | ENSG00000106004.5 | transcript | ENST00000222726.4 | protein_coding | 1050 | chr7 | TogoVar | |||||||
HOXC4_chr12_54048835_54061030 | 54058950 | G | GGTGTGTG others(23): Show |
downstream_gene_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 400 | 0.0025 | 30 | c.*37 others(41): Show |
HOXC4 | ENSG00000198353.8 | transcript | ENST00000430889.3 | protein_coding | 2921 | chr12 | TogoVar | |||||||
HOXC8_chr12_54003985_54017769 | 54013944 | T | TTTCTCTT others(23): Show |
downstream_gene_variant | MODIFIER | NA18948.hp1 NA18962.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0001 a0001c0001t0011g0001 |
2 | 306 | 0.0065 | 30 | c.*25 others(41): Show |
HOXC8 | ENSG00000037965.6 | transcript | ENST00000040584.6 | protein_coding | 1176 | chr12 | TogoVar | |||||||
HOXC8_chr12_54003985_54017769 | 54014000 | T | TTCTCTTC others(23): Show |
downstream_gene_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0005 | 1 | 306 | 0.0033 | 30 | c.*26 others(41): Show |
HOXC8 | ENSG00000037965.6 | transcript | ENST00000040584.6 | protein_coding | 1232 | chr12 | TogoVar | |||||||
HOXC8_chr12_54003985_54017769 | 54014000 | T | TTCTCTTC others(23): Show |
downstream_gene_variant | MODIFIER | NA19077.hp2 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0001 a0001c0001t0008g0001 |
2 | 306 | 0.0065 | 30 | c.*26 others(41): Show |
HOXC8 | ENSG00000037965.6 | transcript | ENST00000040584.6 | protein_coding | 1232 | chr12 | TogoVar | |||||||
HOXD3_chr2_176152307_176178098 | 176168566 | T | TAAAACAA others(23): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02922.hp2 HG03209.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0103 a0001c0004t0001g0016 a0001c0004t0001g0049 others(2): Show |
7 | 332 | 0.0211 | 30 | c.-84 others(45): Show |
HOXD3 | ENSG00000128652.12 | transcript | ENST00000683222.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399220 | C | CCACCACC others(23): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0026 | 1 | 314 | 0.0032 | 30 | c.-25 others(47): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPN_chr19_35036721_35071573 | 35048082 | A | AAGAAAGA others(23): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01975.hp2 HG02083.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0068 a0001c0001t0001g0225 a0001c0001t0001g0248 others(1): Show |
4 | 384 | 0.0104 | 30 | c.17- others(45): Show |
HPN | ENSG00000105707.15 | transcript | ENST00000672452.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HPSE2_chr10_98452077_99240852 | 98580836 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02647.hp1 HG02809.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0005a0001c0001t0008a0001c0001t0016others(3): Show | a0001c0001t0005g0027 a0001c0001t0008g0030 a0001c0001t0016g0124 others(3): Show |
6 | 142 | 0.0423 | 30 | c.132 others(51): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 9/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 98580836 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0012 | 1 | 142 | 0.0070 | 30 | c.132 others(51): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 9/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 98749947 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0057 | 1 | 142 | 0.0070 | 30 | c.611 others(47): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 99132241 | G | GAGAGAGA others(23): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0083 | 1 | 142 | 0.0070 | 30 | c.610 others(49): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | |||||||
HRG_chr3_186661014_186683234 | 186675298 | T | TGAGAGAG others(23): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0055 | 1 | 472 | 0.0021 | 30 | c.741 others(45): Show |
HRG | ENSG00000113905.5 | transcript | ENST00000232003.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
HRH3_chr20_62209960_62225278 | 62212529 | A | AACTGTGG others(23): Show |
downstream_gene_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 368 | 0.0027 | 30 | c.*34 others(41): Show |
HRH3 | ENSG00000101180.17 | transcript | ENST00000340177.10 | protein_coding | 2430 | chr20 | TogoVar | |||||||
HS2ST1_chr1_86909635_87114982 | 86976704 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00741.hp1 HG01106.hp2 others(7): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0012a0001c0001t0022others(1): Show | a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 others(7): Show |
10 | 154 | 0.0649 | 30 | c.124 others(49): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HS2ST1_chr1_86909635_87114982 | 86990812 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0137 | 1 | 154 | 0.0065 | 30 | c.124 others(49): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HS3ST1_chr4_11388150_11433894 | 11429643 | C | CTTTTTTT others(23): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 | 1 | 440 | 0.0023 | 30 | c.-10 others(41): Show |
HS3ST1 | ENSG00000002587.10 | transcript | ENST00000002596.6 | protein_coding | 750 | chr4 | TogoVar | |||||||
HS3ST3A1_chr17_13489032_13606929 | 13512305 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0314 | 1 | 338 | 0.0030 | 30 | c.600 others(49): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
HS3ST3A1_chr17_13489032_13606929 | 13556514 | G | GAAATAAA others(23): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0034 | 1 | 338 | 0.0030 | 30 | c.599 others(49): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
HS3ST3B1_chr17_14296081_14354404 | 14329360 | A | AAGGAAGG others(23): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0344 | 1 | 432 | 0.0023 | 30 | c.555 others(49): Show |
HS3ST3B1 | ENSG00000125430.9 | transcript | ENST00000360954.3 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
HS3ST3B1_chr17_14296081_14354404 | 14329364 | A | AAGGAAGG others(23): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0242 | 1 | 432 | 0.0023 | 30 | c.555 others(49): Show |
HS3ST3B1 | ENSG00000125430.9 | transcript | ENST00000360954.3 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
HS3ST4_chr16_25686959_26142685 | 25999892 | A | ATTATATA others(23): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 a0001c0001t0003g0134 |
2 | 164 | 0.0122 | 30 | c.735 others(51): Show |
HS3ST4 | ENSG00000182601.7 | transcript | ENST00000331351.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HS3ST5_chr6_114050596_114348023 | 114341222 | G | GGAGAGAG others(23): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0086 | 1 | 206 | 0.0049 | 30 | c.-33 others(47): Show |
HS3ST5 | ENSG00000249853.9 | transcript | ENST00000312719.10 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
HS3ST5_chr6_114050596_114348023 | 114341222 | G | GGAGAGAG others(23): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0200 | 1 | 206 | 0.0049 | 30 | c.-33 others(47): Show |
HS3ST5 | ENSG00000249853.9 | transcript | ENST00000312719.10 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
HS6ST1_chr2_128260480_128323868 | 128304575 | T | TTGGCTGG others(23): Show |
intron_variant | MODIFIER | NA19011.hp2 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0165 a0001c0001t0006g0164 |
2 | 294 | 0.0068 | 30 | c.527 others(49): Show |
HS6ST1 | ENSG00000136720.7 | transcript | ENST00000259241.7 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
HS6ST1_chr2_128260480_128323868 | 128304575 | T | TTGGCTGG others(23): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(177): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(67): Show | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0102 others(169): Show |
180 | 294 | 0.6122 | 30 | c.527 others(49): Show |
HS6ST1 | ENSG00000136720.7 | transcript | ENST00000259241.7 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
HS6ST1_chr2_128260480_128323868 | 128304577 | G | GGCTGGTG others(23): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02647.hp2 HG02818.hp2 others(9): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0001t0014a0001c0001t0021others(7): Show | a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0014g0269 others(9): Show |
12 | 294 | 0.0408 | 30 | c.527 others(49): Show |
HS6ST1 | ENSG00000136720.7 | transcript | ENST00000259241.7 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
HS6ST2_chrX_132621015_132963629 | 132650741 | A | ATCTCTCT others(23): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081 | 1 | 201 | 0.0050 | 30 | c.106 others(51): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 4/4 | chrX | TogoVar | |||||||
HS6ST2_chrX_132621015_132963629 | 132684303 | A | ATATGTAT others(23): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 201 | 0.0050 | 30 | c.981 others(49): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 3/4 | chrX | TogoVar | |||||||
HS6ST2_chrX_132621015_132963629 | 132829199 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0079 | 1 | 201 | 0.0050 | 30 | c.948 others(51): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/4 | chrX | TogoVar | |||||||
HS6ST3_chr13_96085107_96844562 | 96304713 | T | TTCTTTCT others(23): Show |
intron_variant | MODIFIER | HG04204.hp1 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0101 a0001c0001t0004g0018 |
2 | 116 | 0.0172 | 30 | c.707 others(51): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96706413 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0013 | 1 | 116 | 0.0086 | 30 | c.708 others(51): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96799984 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG03834.hp1 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0004 a0001c0001t0003g0057 |
2 | 116 | 0.0172 | 30 | c.708 others(49): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96799998 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01358.hp1 HG02523.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0005 | a0001c0001t0001g0038 a0001c0001t0001g0048 a0001c0001t0001g0049 others(3): Show |
6 | 116 | 0.0517 | 30 | c.708 others(49): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HSD17B13_chr4_87298794_87327882 | 87299985 | T | TAAGTTCC others(23): Show |
downstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0017 | 1 | 442 | 0.0023 | 30 | c.*52 others(41): Show |
HSD17B13 | ENSG00000170509.12 | transcript | ENST00000328546.5 | protein_coding | 3808 | chr4 | TogoVar | |||||||
HSD17B14_chr19_48808018_48841491 | 48826528 | A | AAAAAATA others(23): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 394 | 0.0025 | 30 | c.369 others(47): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 5/8 | chr19 | TogoVar | |||||||
HSD17B14_chr19_48808018_48841491 | 48826528 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG00738.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0066 a0001c0001t0001g0097 a0001c0001t0001g0104 others(12): Show |
15 | 394 | 0.0381 | 30 | c.369 others(47): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 5/8 | chr19 | TogoVar | |||||||
HSD17B14_chr19_48808018_48841491 | 48826542 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 394 | 0.0025 | 30 | c.369 others(47): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 5/8 | chr19 | TogoVar | |||||||
HSD17B14_chr19_48808018_48841491 | 48826542 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02165.hp1 HG02723.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0118 a0001c0001t0001g0206 a0001c0001t0001g0278 others(1): Show |
4 | 394 | 0.0102 | 30 | c.369 others(47): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 5/8 | chr19 | TogoVar | |||||||
HSD17B2_chr16_82030253_82103534 | 82097284 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG00741.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0267 others(4): Show |
7 | 366 | 0.0191 | 30 | c.803 others(45): Show |
HSD17B2 | ENSG00000086696.11 | transcript | ENST00000199936.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |