regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HPGD_chr4_174485175_174527488 | 174524489 | GAGGCACA others(4): Show |
G | upstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0210 | 1 | 414 | 0.0024 | -11 | c.-20 others(22): Show |
HPGD | ENSG00000164120.14 | transcript | ENST00000296522.11 | protein_coding | 2002 | chr4 | TogoVar | ||||||
HPN_chr19_35036721_35071573 | 35048061 | AAAGAAAG others(4): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02145.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005 | a0001c0001t0002g0281a0001c0001t0003g0033a0001c0001t0003g0034others(5): Show | 10 | 384 | 0.0260 | -11 | c.17- others(26): Show |
HPN | ENSG00000105707.15 | transcript | ENST00000672452.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
HPN_chr19_35036721_35071573 | 35048065 | AAAGAAAG others(4): Show |
A | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 | 1 | 384 | 0.0026 | -11 | c.17- others(26): Show |
HPN | ENSG00000105707.15 | transcript | ENST00000672452.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
HPS1_chr10_98411198_98451935 | 98451258 | TATCTATC others(4): Show |
T | upstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0289 | 1 | 434 | 0.0023 | -11 | c.-45 others(22): Show |
HPS1 | ENSG00000107521.21 | transcript | ENST00000361490.9 | protein_coding | 4324 | chr10 | TogoVar | ||||||
HPS5_chr11_18273676_18327140 | 18277072 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG03195.hp1 NA19063.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0216a0002c0002t0002g0233 | 2 | 372 | 0.0054 | -11 | c.*27 others(22): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1603 | chr11 | TogoVar | ||||||
HPS5_chr11_18273676_18327140 | 18323800 | CACAGTTT others(4): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02451.hp1 others(25): Show |
a0001a0010 | a0001c0001a0001c0004a0010c0020 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0014a0001c0001t0001g0309a0001c0001t0001g0310others(23): Show | 28 | 372 | 0.0753 | -11 | c.-19 others(22): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 1661 | chr11 | TogoVar | ||||||
HPS6_chr10_102060349_102073036 | 102060375 | CTTTTTTC others(4): Show |
C | upstream_gene_variant | MODIFIER | HG01106.hp2 HG01168.hp1 HG02572.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 396 | 0.0076 | -11 | c.-50 others(22): Show |
HPS6 | ENSG00000166189.8 | transcript | ENST00000299238.7 | protein_coding | 4973 | chr10 | TogoVar | ||||||
HPSE2_chr10_98452077_99240852 | 98597970 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00597.hp1 others(20): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0001g0086a0001c0001t0001g0116a0001c0001t0001g0117others(20): Show | 23 | 142 | 0.1620 | -11 | c.132 others(32): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 9/11 | chr10 | TogoVar | ||||||
HPSE2_chr10_98452077_99240852 | 98920859 | TCCTCTGG others(4): Show |
T | intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 142 | 0.0070 | -11 | c.611 others(32): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | ||||||
HPSE2_chr10_98452077_99240852 | 99094540 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG02622.hp1 HG02897.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0005a0001c0001t0009a0002c0002t0002others(2): Show | a0001c0001t0005g0091a0001c0001t0009g0057a0002c0002t0002g0040others(2): Show | 5 | 142 | 0.0352 | -11 | c.610 others(30): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | ||||||
HPSE2_chr10_98452077_99240852 | 99107677 | ACATTTAA others(4): Show |
A | intron_variant | MODIFIER | HG02135.hp1 HG02523.hp2 NA18950.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0017 | a0001c0001t0001g0051a0001c0001t0004g0064a0001c0001t0017g0053 | 3 | 142 | 0.0211 | -11 | c.610 others(30): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | ||||||
HPSE2_chr10_98452077_99240852 | 99173943 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00438.hp2 others(37): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0001g0009a0001c0001t0001g0034a0001c0001t0001g0036others(37): Show | 40 | 142 | 0.2817 | -11 | c.449 others(30): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 2/11 | chr10 | TogoVar | ||||||
HPSE2_chr10_98452077_99240852 | 99181397 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00438.hp2 others(39): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0001g0009a0001c0001t0001g0034a0001c0001t0001g0036others(39): Show | 42 | 142 | 0.2958 | -11 | c.449 others(30): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 2/11 | chr10 | TogoVar | ||||||
HPSE2_chr10_98452077_99240852 | 99232241 | ACACACAC others(4): Show |
A | intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 142 | 0.0070 | -11 | c.448 others(25): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 2/11 | chr10 | TogoVar | ||||||
HPSE_chr4_83287461_83339848 | 83338994 | TGTAAAAC others(4): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 | a0002 | a0002c0002 | a0002c0002t0023 | a0002c0002t0023g0313 | 1 | 320 | 0.0031 | -11 | c.-42 others(22): Show |
HPSE | ENSG00000173083.16 | transcript | ENST00000311412.10 | protein_coding | 4147 | chr4 | TogoVar | ||||||
HPX_chr11_6426049_6445987 | 6440567 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG01243.hp1 HG01358.hp2 others(28): Show |
a0001a0008 | a0001c0001a0008c0013 | a0001c0001t0001a0008c0013t0001 | a0001c0001t0001g0009a0001c0001t0001g0014a0001c0001t0001g0017others(10): Show | 31 | 432 | 0.0718 | -11 | c.143 others(24): Show |
HPX | ENSG00000110169.12 | transcript | ENST00000265983.8 | protein_coding | 2/9 | chr11 | TogoVar | ||||||
HRAS_chr11_527242_540576 | 538792 | CGCAGGCC others(4): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG01074.hp1 others(63): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0039a0001c0002t0001g0003others(11): Show | 66 | 397 | 0.1663 | -11 | c.-34 others(22): Show |
HRAS | ENSG00000174775.18 | transcript | ENST00000311189.8 | protein_coding | 3217 | chr11 | TogoVar | ||||||
HRAS_chr11_527242_540576 | 538808 | GCCACGTG others(4): Show |
G | upstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 397 | 0.0025 | -11 | c.-34 others(22): Show |
HRAS | ENSG00000174775.18 | transcript | ENST00000311189.8 | protein_coding | 3233 | chr11 | TogoVar | ||||||
HRCT1_chr9_35901202_35912136 | 35901724 | CAAAAAAT others(4): Show |
C | upstream_gene_variant | MODIFIER | NA18997.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0000 | 1 | 430 | 0.0023 | -11 | c.-45 others(22): Show |
HRCT1 | ENSG00000196196.3 | transcript | ENST00000354323.3 | protein_coding | 4477 | chr9 | TogoVar | ||||||
HRG_chr3_186661014_186683234 | 186664838 | CAGCTGTA others(4): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(342): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0019a0002c0002others(15): Show | a0001c0001t0001a0001c0019t0008a0002c0002t0001others(18): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0013others(112): Show | 345 | 472 | 0.7309 | -11 | c.-11 others(22): Show |
HRG | ENSG00000113905.5 | transcript | ENST00000232003.5 | protein_coding | 1175 | chr3 | TogoVar | ||||||
HRH1_chr3_11149493_11268557 | 11237664 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0208 | 1 | 352 | 0.0028 | -11 | c.-35 others(30): Show |
HRH1 | ENSG00000196639.7 | transcript | ENST00000431010.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
HRH1_chr3_11149493_11268557 | 11242480 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG01943.hp2 HG02055.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0009others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0023others(6): Show | a0001c0001t0002g0352a0001c0001t0003g0044a0001c0001t0003g0085others(22): Show | 25 | 352 | 0.0710 | -11 | c.-35 others(30): Show |
HRH1 | ENSG00000196639.7 | transcript | ENST00000431010.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
HROB_chr17_44136930_44167476 | 44137110 | AAGGAAGG others(4): Show |
A | upstream_gene_variant | MODIFIER | HG01943.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003 | 1 | 322 | 0.0031 | -11 | c.-50 others(22): Show |
HROB | ENSG00000125319.15 | transcript | ENST00000585683.6 | protein_coding | 4819 | chr17 | TogoVar | ||||||
HROB_chr17_44136930_44167476 | 44144494 | TTGAACTC others(4): Show |
T | intron_variant | MODIFIER | HG00140.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0062 | 1 | 322 | 0.0031 | -11 | c.4-7 others(22): Show |
HROB | ENSG00000125319.15 | transcript | ENST00000585683.6 | protein_coding | 1/9 | chr17 | TogoVar | ||||||
HROB_chr17_44136930_44167476 | 44166722 | GTTTTTCT others(4): Show |
G | downstream_gene_variant | MODIFIER | NA18984.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0023 | 1 | 322 | 0.0031 | -11 | c.*47 others(22): Show |
HROB | ENSG00000125319.15 | transcript | ENST00000585683.6 | protein_coding | 4247 | chr17 | TogoVar | ||||||
HROB_chr17_44136930_44167476 | 44166768 | CACTCCCT others(4): Show |
C | downstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0161 | 1 | 322 | 0.0031 | -11 | c.*48 others(22): Show |
HROB | ENSG00000125319.15 | transcript | ENST00000585683.6 | protein_coding | 4293 | chr17 | TogoVar | ||||||
HROB_chr17_44136930_44167476 | 44167141 | AGGCCTCC others(4): Show |
A | downstream_gene_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 322 | 0.0031 | -11 | c.*52 others(22): Show |
HROB | ENSG00000125319.15 | transcript | ENST00000585683.6 | protein_coding | 4666 | chr17 | TogoVar | ||||||
HS3ST1_chr4_11388150_11433894 | 11404676 | CAAACCAG others(4): Show |
C | intron_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0005 | a0001c0005t0013 | a0001c0005t0013g0134 | 1 | 440 | 0.0023 | -11 | c.-10 others(30): Show |
HS3ST1 | ENSG00000002587.10 | transcript | ENST00000002596.6 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
HS3ST1_chr4_11388150_11433894 | 11429643 | CTTTTTTT others(4): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0002 | a0001c0002t0026 | a0001c0002t0026g0291 | 1 | 440 | 0.0023 | -11 | c.-10 others(22): Show |
HS3ST1 | ENSG00000002587.10 | transcript | ENST00000002596.6 | protein_coding | 750 | chr4 | TogoVar | ||||||
HS3ST2_chr16_22809162_22921338 | 22908385 | GTGGGGTG others(4): Show |
G | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0288 | 1 | 350 | 0.0029 | -11 | c.486 others(28): Show |
HS3ST2 | ENSG00000122254.7 | transcript | ENST00000261374.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
HS3ST3A1_chr17_13489032_13606929 | 13548539 | ACCGTCTC others(4): Show |
A | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0187 | 1 | 338 | 0.0030 | -11 | c.600 others(30): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
HS3ST5_chr6_114050596_114348023 | 114128439 | TACATGTC others(4): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01884.hp2 HG02145.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0014others(4): Show | a0001c0001t0002g0122a0001c0001t0005g0082a0001c0001t0014g0033others(7): Show | 10 | 206 | 0.0485 | -11 | c.-33 others(30): Show |
HS3ST5 | ENSG00000249853.9 | transcript | ENST00000312719.10 | protein_coding | 3/4 | chr6 | TogoVar | ||||||
HS6ST2_chrX_132621015_132963629 | 132796055 | GATGCTGG others(4): Show |
G | intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 201 | 0.0050 | -11 | c.948 others(30): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/4 | chrX | TogoVar | ||||||
HS6ST2_chrX_132621015_132963629 | 132857484 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0196 | 1 | 201 | 0.0050 | -11 | c.947 others(30): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/4 | chrX | TogoVar | ||||||
HS6ST2_chrX_132621015_132963629 | 132870972 | AACAGGCA others(4): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0068 | 1 | 201 | 0.0050 | -11 | c.947 others(30): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/4 | chrX | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96254415 | GAAAAAAA others(4): Show |
G | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 116 | 0.0086 | -11 | c.707 others(32): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
HS6ST3_chr13_96085107_96844562 | 96254439 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0028 | a0001c0001t0001g0024a0001c0001t0028g0076 | 2 | 116 | 0.0172 | -11 | c.707 others(32): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
HS6ST3_chr13_96085107_96844562 | 96614318 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0033 | 1 | 116 | 0.0086 | -11 | c.708 others(32): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
HSBP1L1_chr18_79959643_79975822 | 79969380 | AAAGAAAG others(4): Show |
A | intron_variant | MODIFIER | NA19055.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0086 | 1 | 412 | 0.0024 | -11 | c.214 others(28): Show |
HSBP1L1 | ENSG00000226742.4 | transcript | ENST00000451882.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
HSBP1L1_chr18_79959643_79975822 | 79969383 | GAAAGAAA others(4): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG01891.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0050a0001c0001t0001g0162a0001c0001t0001g0193others(2): Show | 8 | 412 | 0.0194 | -11 | c.214 others(28): Show |
HSBP1L1 | ENSG00000226742.4 | transcript | ENST00000451882.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
HSD11B1L_chr19_5676027_5693522 | 5687099 | TCCCGCCC others(4): Show |
T | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0037 | 1 | 382 | 0.0026 | -11 | c.408 others(26): Show |
HSD11B1L | ENSG00000167733.14 | transcript | ENST00000339423.7 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
HSD11B1L_chr19_5676027_5693522 | 5692643 | GCACAGCC others(4): Show |
G | downstream_gene_variant | MODIFIER | HG02738.hp2 HG03486.hp1 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 3 | 382 | 0.0079 | -11 | c.*46 others(22): Show |
HSD11B1L | ENSG00000167733.14 | transcript | ENST00000339423.7 | protein_coding | 4122 | chr19 | TogoVar | ||||||
HSD11B1_chr1_209699846_209739929 | 209728031 | AAAGGCTC others(4): Show |
A | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 400 | 0.0025 | -11 | c.518 others(28): Show |
HSD11B1 | ENSG00000117594.10 | transcript | ENST00000367027.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HSD17B11_chr4_87331515_87396188 | 87378949 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0373 | 1 | 390 | 0.0026 | -11 | c.318 others(28): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 2/6 | chr4 | TogoVar | ||||||
HSD17B11_chr4_87331515_87396188 | 87380478 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0377 | 1 | 390 | 0.0026 | -11 | c.318 others(28): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 2/6 | chr4 | TogoVar | ||||||
HSD17B11_chr4_87331515_87396188 | 87380863 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0197a0001c0001t0002g0029 | 2 | 390 | 0.0051 | -11 | c.318 others(28): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 2/6 | chr4 | TogoVar | ||||||
HSD17B12_chr11_43675738_43861615 | 43690379 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 280 | 0.0036 | -11 | c.160 others(28): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 1/10 | chr11 | TogoVar | ||||||
HSD17B12_chr11_43675738_43861615 | 43859756 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG01069.hp1 HG02523.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0002 | a0001c0001t0001g0085a0001c0003t0001g0238a0002c0002t0002g0177others(1): Show | 4 | 280 | 0.0143 | -11 | c.*45 others(22): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 3142 | chr11 | TogoVar | ||||||
HSD17B13_chr4_87298794_87327882 | 87306905 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00733.hp1 others(16): Show |
a0001a0003 | a0001c0001a0003c0006a0003c0007 | a0001c0001t0001a0001c0001t0019a0003c0006t0001others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0035a0001c0001t0001g0360others(11): Show | 19 | 442 | 0.0430 | -11 | c.813 others(28): Show |
HSD17B13 | ENSG00000170509.12 | transcript | ENST00000328546.5 | protein_coding | 6/6 | chr4 | TogoVar | ||||||
HSD17B14_chr19_48808018_48841491 | 48809066 | CAAAAAAA others(4): Show |
C | downstream_gene_variant | MODIFIER | HG02647.hp2 HG02965.hp2 HG03041.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0085a0002c0002t0001g0291a0002c0002t0001g0376others(1): Show | 4 | 394 | 0.0102 | -11 | c.*40 others(22): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 3951 | chr19 | TogoVar |