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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HS3ST2_chr16_22809162_22921338 | 22855729 | T | TCTCTCTC others(6): Show |
intron_variant | MODIFIER | HG02155.hp2 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204a0001c0001t0001g0280 | 2 | 350 | 0.0057 | 13 | c.485 others(32): Show |
HS3ST2 | ENSG00000122254.7 | transcript | ENST00000261374.4 | protein_coding | 1/1 | chr16 | TogoVar | ||||||
HS3ST3A1_chr17_13489032_13606929 | 13512321 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG02257.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0014a0001c0001t0026others(1): Show | a0001c0001t0010g0033a0001c0001t0010g0034a0001c0001t0014g0032others(2): Show | 5 | 338 | 0.0148 | 13 | c.600 others(32): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
HS3ST3A1_chr17_13489032_13606929 | 13534547 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0002 | a0002c0004 | a0002c0004t0015 | a0002c0004t0015g0289 | 1 | 338 | 0.0030 | 13 | c.600 others(32): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
HS3ST3A1_chr17_13489032_13606929 | 13560289 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01361.hp2 HG01517.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0003a0001c0001t0020a0001c0001t0034others(5): Show | a0001c0001t0003g0179a0001c0001t0003g0262a0001c0001t0003g0270others(9): Show | 12 | 338 | 0.0355 | 13 | c.599 others(32): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
HS3ST3A1_chr17_13489032_13606929 | 13585186 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0002 | a0002c0004 | a0002c0004t0012 | a0002c0004t0012g0290 | 1 | 338 | 0.0030 | 13 | c.599 others(32): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
HS3ST3A1_chr17_13489032_13606929 | 13593233 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01346.hp1 HG01516.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0008a0001c0001t0011a0001c0001t0020others(2): Show | a0001c0001t0008g0076a0001c0001t0008g0078a0001c0001t0011g0077others(3): Show | 6 | 338 | 0.0178 | 13 | c.599 others(30): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
HS3ST3B1_chr17_14296081_14354404 | 14329367 | A | AAGAAAGA others(6): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0036 | 1 | 432 | 0.0023 | 13 | c.555 others(32): Show |
HS3ST3B1 | ENSG00000125430.9 | transcript | ENST00000360954.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
HS3ST4_chr16_25686959_26142685 | 25841870 | T | TGGGATTA others(6): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0043 | 1 | 164 | 0.0061 | 13 | c.734 others(34): Show |
HS3ST4 | ENSG00000182601.7 | transcript | ENST00000331351.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
HS3ST5_chr6_114050596_114348023 | 114341220 | G | GAGAGAGA others(6): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0067 | 1 | 206 | 0.0049 | 13 | c.-33 others(30): Show |
HS3ST5 | ENSG00000249853.9 | transcript | ENST00000312719.10 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
HS6ST1_chr2_128260480_128323868 | 128284502 | C | CTCTTTTT others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(89): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(30): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0102others(82): Show | 92 | 294 | 0.3129 | 13 | c.528 others(32): Show |
HS6ST1 | ENSG00000136720.7 | transcript | ENST00000259241.7 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
HS6ST1_chr2_128260480_128323868 | 128284505 | T | TTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0019 | 1 | 294 | 0.0034 | 13 | c.528 others(32): Show |
HS6ST1 | ENSG00000136720.7 | transcript | ENST00000259241.7 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
HS6ST2_chrX_132621015_132963629 | 132709812 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 | 1 | 201 | 0.0050 | 13 | c.948 others(30): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/4 | chrX | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96166571 | C | CTTTCTTT others(6): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0014 | 1 | 116 | 0.0086 | 13 | 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 | 96658265 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0099 | 1 | 116 | 0.0086 | 13 | c.708 others(34): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
HS6ST3_chr13_96085107_96844562 | 96658268 | C | CTTCTTTT others(6): Show |
intron_variant | MODIFIER | HG01515.hp1 NA18960.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088a0001c0001t0002g0100 | 2 | 116 | 0.0172 | 13 | c.708 others(34): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
HS6ST3_chr13_96085107_96844562 | 96658268 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG02895.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0021others(1): Show | a0001c0001t0001g0056a0001c0001t0001g0082a0001c0001t0003g0054others(2): Show | 5 | 116 | 0.0431 | 13 | c.708 others(34): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
HS6ST3_chr13_96085107_96844562 | 96831954 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01074.hp1 HG01884.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0002g0073a0001c0001t0002g0074a0001c0001t0002g0079others(6): Show | 9 | 116 | 0.0776 | 13 | c.708 others(28): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
HS6ST3_chr13_96085107_96844562 | 96831964 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0050 | 1 | 116 | 0.0086 | 13 | c.708 others(28): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
HS6ST3_chr13_96085107_96844562 | 96831968 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0063 | 1 | 116 | 0.0086 | 13 | c.708 others(28): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
HS6ST3_chr13_96085107_96844562 | 96831974 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 116 | 0.0086 | 13 | c.708 others(28): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
HS6ST3_chr13_96085107_96844562 | 96842771 | A | ATTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0002 | a0002c0002t0027 | a0002c0002t0027g0092 | 1 | 116 | 0.0086 | 13 | c.*95 others(24): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 3210 | chr13 | TogoVar | ||||||
HSBP1L1_chr18_79959643_79975822 | 79964267 | G | GGGCCCGG others(6): Show |
upstream_gene_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 | 1 | 412 | 0.0024 | 13 | c.-46 others(22): Show |
HSBP1L1 | ENSG00000226742.4 | transcript | ENST00000451882.3 | protein_coding | 375 | chr18 | TogoVar | ||||||
HSBP1L1_chr18_79959643_79975822 | 79969335 | G | GAAAGAAA others(6): Show |
intron_variant | MODIFIER | NA18946.hp2 NA19057.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0047 | 2 | 412 | 0.0049 | 13 | c.214 others(30): Show |
HSBP1L1 | ENSG00000226742.4 | transcript | ENST00000451882.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
HSBP1L1_chr18_79959643_79975822 | 79969339 | G | GAAAGAAA others(6): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01515.hp1 HG02040.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0010a0001c0001t0003g0074a0001c0001t0003g0118others(2): Show | 9 | 412 | 0.0218 | 13 | c.214 others(30): Show |
HSBP1L1 | ENSG00000226742.4 | transcript | ENST00000451882.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
HSBP1L1_chr18_79959643_79975822 | 79969394 | A | AGAAAGAA others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01069.hp1 HG01071.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0008a0001c0001t0001g0052a0001c0001t0001g0055others(6): Show | 18 | 412 | 0.0437 | 13 | c.214 others(30): Show |
HSBP1L1 | ENSG00000226742.4 | transcript | ENST00000451882.3 | protein_coding | 3/3 | chr18 | TogoVar | ||||||
HSBP1_chr16_83802978_83824737 | 83820760 | T | TCTCTCTC others(6): Show |
downstream_gene_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003 | 1 | 468 | 0.0021 | 13 | c.*93 others(24): Show |
HSBP1 | ENSG00000230989.8 | transcript | ENST00000433866.7 | protein_coding | 1024 | chr16 | TogoVar | ||||||
HSCB_chr22_28737039_28762510 | 28750945 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01192.hp1 HG01928.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0040others(11): Show | 21 | 410 | 0.0512 | 13 | c.569 others(28): Show |
HSCB | ENSG00000100209.11 | transcript | ENST00000216027.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
HSD11B1_chr1_209699846_209739929 | 209709937 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 400 | 0.0025 | 13 | c.517 others(30): Show |
HSD11B1 | ENSG00000117594.10 | transcript | ENST00000367027.5 | protein_coding | 4/5 | chr1 | TogoVar | ||||||
HSD11B1_chr1_209699846_209739929 | 209719019 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01192.hp1 HG02080.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0040a0001c0001t0001g0086others(19): Show | 24 | 400 | 0.0600 | 13 | c.517 others(32): Show |
HSD11B1 | ENSG00000117594.10 | transcript | ENST00000367027.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HSD11B2_chr16_67426121_67442553 | 67437547 | T | TCTAAAAT others(6): Show |
3_prime_UTR_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0083 | 1 | 290 | 0.0035 | 13 | c.*51 others(22): Show |
HSD11B2 | ENSG00000176387.7 | transcript | ENST00000326152.6 | protein_coding | 5/5 | 511 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||
HSD17B11_chr4_87331515_87396188 | 87335918 | A | ATTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG01884.hp1 HG02486.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0009 | a0001c0001t0005g0154a0001c0001t0005g0156a0001c0001t0005g0157others(8): Show | 11 | 390 | 0.0282 | 13 | c.*13 others(24): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 596 | chr4 | TogoVar | ||||||
HSD17B11_chr4_87331515_87396188 | 87357948 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 390 | 0.0026 | 13 | c.558 others(28): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 4/6 | chr4 | TogoVar | ||||||
HSD17B11_chr4_87331515_87396188 | 87357949 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01891.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0258a0001c0002t0001g0263 | 2 | 390 | 0.0051 | 13 | c.558 others(28): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 4/6 | chr4 | TogoVar | ||||||
HSD17B11_chr4_87331515_87396188 | 87370755 | A | ATTATTAT others(6): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0325 | 1 | 390 | 0.0026 | 13 | c.557 others(30): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 4/6 | chr4 | TogoVar | ||||||
HSD17B11_chr4_87331515_87396188 | 87370756 | T | TTATTATT others(6): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0362 | 1 | 390 | 0.0026 | 13 | c.557 others(30): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 4/6 | chr4 | TogoVar | ||||||
HSD17B11_chr4_87331515_87396188 | 87380863 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 390 | 0.0026 | 13 | c.318 others(30): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 2/6 | chr4 | TogoVar | ||||||
HSD17B12_chr11_43675738_43861615 | 43681500 | A | AATCGTAC others(6): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 280 | 0.0036 | 13 | c.160 others(28): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HSD17B12_chr11_43675738_43861615 | 43690398 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0066 | 1 | 280 | 0.0036 | 13 | c.160 others(30): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HSD17B12_chr11_43675738_43861615 | 43690400 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0268 | 1 | 280 | 0.0036 | 13 | c.160 others(30): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HSD17B12_chr11_43675738_43861615 | 43706721 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0243 | 1 | 280 | 0.0036 | 13 | c.160 others(32): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 1/10 | chr11 | TogoVar | ||||||
HSD17B12_chr11_43675738_43861615 | 43761901 | C | CTTTAAGT others(6): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0232 | 1 | 280 | 0.0036 | 13 | c.283 others(30): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 3/10 | chr11 | TogoVar | ||||||
HSD17B12_chr11_43675738_43861615 | 43860688 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00639.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0071a0001c0001t0001g0072a0001c0001t0001g0076others(15): Show | 18 | 280 | 0.0643 | 13 | c.*54 others(24): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 4074 | chr11 | TogoVar | ||||||
HSD17B13_chr4_87298794_87327882 | 87317563 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01175.hp2 HG01192.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0029a0001c0001t0002g0030a0001c0001t0002g0306others(7): Show | 12 | 442 | 0.0272 | 13 | c.319 others(28): Show |
HSD17B13 | ENSG00000170509.12 | transcript | ENST00000328546.5 | protein_coding | 2/6 | chr4 | TogoVar | ||||||
HSD17B14_chr19_48808018_48841491 | 48811494 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG01081.hp1 HG01106.hp1 others(31): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0005others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0036a0001c0001t0001g0037a0001c0001t0001g0053others(30): Show | 34 | 394 | 0.0863 | 13 | c.*16 others(24): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 1523 | chr19 | TogoVar | ||||||
HSD17B14_chr19_48808018_48841491 | 48816823 | C | CTTTCTTT others(6): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0293 | 1 | 394 | 0.0025 | 13 | c.370 others(30): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 5/8 | chr19 | TogoVar | ||||||
HSD17B2_chr16_82030253_82103534 | 82034365 | A | ATTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 HG02886.hp1 HG03130.hp1 others(2): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0007a0001c0001t0001g0060a0001c0001t0001g0061others(2): Show | 5 | 366 | 0.0137 | 13 | c.-10 others(24): Show |
HSD17B2 | ENSG00000086696.11 | transcript | ENST00000199936.9 | protein_coding | 887 | chr16 | TogoVar | ||||||
HSD17B3_chr9_96230306_96307176 | 96231876 | G | GTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | NA18966.hp1 NA18990.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0194a0002c0002t0002g0278 | 2 | 374 | 0.0054 | 13 | c.*35 others(24): Show |
HSD17B3 | ENSG00000130948.10 | transcript | ENST00000375263.8 | protein_coding | 3429 | chr9 | TogoVar | ||||||
HSD17B3_chr9_96230306_96307176 | 96241961 | A | AAAAAGAA others(6): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 374 | 0.0027 | 13 | c.673 others(30): Show |
HSD17B3 | ENSG00000130948.10 | transcript | ENST00000375263.8 | protein_coding | 9/10 | chr9 | TogoVar | ||||||
HSD17B3_chr9_96230306_96307176 | 96255367 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0332 | 1 | 374 | 0.0027 | 13 | c.202 others(28): Show |
HSD17B3 | ENSG00000130948.10 | transcript | ENST00000375263.8 | protein_coding | 2/10 | chr9 | TogoVar | ||||||
HSD17B3_chr9_96230306_96307176 | 96290456 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02071.hp2 HG03834.hp1 NA18939.hp1 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0258a0003c0003t0004g0261a0003c0003t0004g0262others(2): Show | 5 | 374 | 0.0134 | 13 | c.201 others(30): Show |
HSD17B3 | ENSG00000130948.10 | transcript | ENST00000375263.8 | protein_coding | 2/10 | chr9 | TogoVar |