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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HRC_chr19_49146198_49160396 | 49154632 | T | TTCCTCCT others(2): Show |
disruptive_inframe_insertion | MODERATE | HG02451.hp1 HG02630.hp1 HG02723.hp1 others(8): Show |
a0008a0022a0044 | a0008c0009a0022c0025a0044c0029 | a0008c0009t0001a0022c0025t0001a0044c0029t0001 | a0008c0009t0001g0009a0022c0025t0001g0036a0044c0029t0001g0043 | 11 | 406 | 0.0271 | 9 | c.597 others(16): Show |
p.Glu others(13): Show |
HRC | ENSG00000130528.12 | transcript | ENST00000252825.9 | protein_coding | 1/6 | 764/2357 | 605/2100 | 202/699 | chr19 | TogoVar | ||
HRH1_chr3_11149493_11268557 | 11172704 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01109.hp1 others(52): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0040a0001c0001t0001g0047a0001c0001t0001g0049others(52): Show | 55 | 352 | 0.1563 | 9 | c.-36 others(28): Show |
HRH1 | ENSG00000196639.7 | transcript | ENST00000431010.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
HRH4_chr18_24455637_24484961 | 24460381 | C | CAACAACA others(2): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 HG01069.hp2 HG01071.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0002g0003a0001c0001t0004g0034a0001c0001t0004g0074others(7): Show | 14 | 424 | 0.0330 | 9 | c.-34 others(18): Show |
HRH4 | ENSG00000134489.7 | transcript | ENST00000256906.5 | protein_coding | 255 | chr18 | TogoVar | ||||||
HRH4_chr18_24455637_24484961 | 24470501 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01192.hp1 HG01433.hp2 others(24): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0027a0001c0001t0001g0029a0001c0001t0001g0048others(21): Show | 27 | 424 | 0.0637 | 9 | c.357 others(26): Show |
HRH4 | ENSG00000134489.7 | transcript | ENST00000256906.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
HR_chr8_22109419_22136010 | 22113648 | A | AATTATTA others(2): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00597.hp1 HG01109.hp1 others(9): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0043others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0003t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0043a0001c0001t0007g0086others(7): Show | 12 | 408 | 0.0294 | 9 | c.*20 others(20): Show |
HR | ENSG00000168453.16 | transcript | ENST00000381418.9 | protein_coding | 770 | chr8 | TogoVar | ||||||
HS2ST1_chr1_86909635_87114982 | 86934927 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01167.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0002g0038a0001c0001t0002g0039a0001c0001t0002g0041others(7): Show | 10 | 154 | 0.0649 | 9 | c.124 others(28): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HS2ST1_chr1_86909635_87114982 | 86990837 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00738.hp1 HG00738.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0066a0001c0001t0001g0111a0001c0001t0001g0115others(16): Show | 19 | 154 | 0.1234 | 9 | c.124 others(28): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
HS3ST2_chr16_22809162_22921338 | 22864882 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01361.hp2 HG01884.hp1 others(33): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0145a0001c0001t0001g0174others(33): Show | 36 | 350 | 0.1029 | 9 | c.485 others(28): Show |
HS3ST2 | ENSG00000122254.7 | transcript | ENST00000261374.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
HS3ST2_chr16_22809162_22921338 | 22914736 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02965.hp1 HG03130.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0003 | a0001c0001t0001g0189a0001c0001t0001g0195a0001c0001t0001g0297others(5): Show | 8 | 350 | 0.0229 | 9 | c.486 others(24): Show |
HS3ST2 | ENSG00000122254.7 | transcript | ENST00000261374.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
HS3ST3A1_chr17_13489032_13606929 | 13534547 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG01074.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0002a0001c0001t0006a0001c0002t0001others(2): Show | a0001c0001t0002g0209a0001c0001t0002g0268a0001c0001t0006g0123others(5): Show | 8 | 338 | 0.0237 | 9 | c.600 others(28): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
HS3ST3A1_chr17_13489032_13606929 | 13560289 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | NA18939.hp2 NA18955.hp2 NA18966.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0071others(2): Show | a0001c0001t0002g0170a0001c0002t0001g0150a0001c0002t0001g0151others(5): Show | 8 | 338 | 0.0237 | 9 | c.599 others(28): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
HS3ST4_chr16_25686959_26142685 | 25831443 | A | ACACACAC others(2): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0022 | a0001c0001t0007g0141a0001c0001t0022g0143 | 2 | 164 | 0.0122 | 9 | c.734 others(30): Show |
HS3ST4 | ENSG00000182601.7 | transcript | ENST00000331351.6 | protein_coding | 1/1 | chr16 | TogoVar | ||||||
HS3ST4_chr16_25686959_26142685 | 25845647 | G | GTAATAAT others(2): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03098.hp1 HG06807.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0073a0001c0001t0002g0108a0001c0001t0003g0079others(4): Show | 7 | 164 | 0.0427 | 9 | c.734 others(30): Show |
HS3ST4 | ENSG00000182601.7 | transcript | ENST00000331351.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
HS3ST4_chr16_25686959_26142685 | 26085877 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02622.hp1 HG02622.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0027others(2): Show | a0001c0001t0001g0041a0001c0001t0002g0106a0001c0001t0027g0071others(2): Show | 5 | 164 | 0.0305 | 9 | c.735 others(28): Show |
HS3ST4 | ENSG00000182601.7 | transcript | ENST00000331351.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
HS3ST5_chr6_114050596_114348023 | 114341199 | G | GGAATAGG others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0002g0118a0001c0001t0002g0119a0001c0001t0002g0122others(6): Show | 9 | 206 | 0.0437 | 9 | c.-33 others(26): Show |
HS3ST5 | ENSG00000249853.9 | transcript | ENST00000312719.10 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
HS3ST5_chr6_114050596_114348023 | 114341222 | G | GAGAGAGA others(2): Show |
intron_variant | MODIFIER | HG01516.hp2 NA19007.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0027 | a0001c0001t0006g0027a0001c0002t0027g0028 | 2 | 206 | 0.0097 | 9 | c.-33 others(26): Show |
HS3ST5 | ENSG00000249853.9 | transcript | ENST00000312719.10 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
HS3ST6_chr16_1906475_1923415 | 1919399 | T | TGCAGGGA others(2): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG03710.hp1 NA18950.hp2 others(7): Show |
a0001a0006 | a0001c0001a0001c0007a0006c0008 | a0001c0001t0002a0001c0007t0003a0006c0008t0003 | a0001c0001t0002g0086a0001c0007t0003g0012a0001c0007t0003g0087others(1): Show | 10 | 433 | 0.0231 | 9 | c.-10 others(20): Show |
HS3ST6 | ENSG00000162040.7 | transcript | ENST00000454677.3 | protein_coding | 985 | chr16 | TogoVar | ||||||
HS6ST2_chrX_132621015_132963629 | 132793048 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 201 | 0.0050 | 9 | c.948 others(28): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/4 | chrX | TogoVar | ||||||
HS6ST2_chrX_132621015_132963629 | 132794568 | G | GATTATTA others(2): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02818.hp1 NA19004.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003a0001c0001t0002g0008a0001c0001t0002g0070 | 3 | 201 | 0.0149 | 9 | c.948 others(28): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/4 | chrX | TogoVar | ||||||
HS6ST2_chrX_132621015_132963629 | 132794571 | G | GATTATTA others(2): Show |
intron_variant | MODIFIER | HG04204.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0188a0001c0001t0002g0028 | 2 | 201 | 0.0100 | 9 | c.948 others(28): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/4 | chrX | TogoVar | ||||||
HS6ST2_chrX_132621015_132963629 | 132794574 | G | GATGATGA others(2): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 1 | 201 | 0.0050 | 9 | c.948 others(28): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/4 | chrX | TogoVar | ||||||
HS6ST2_chrX_132621015_132963629 | 132794574 | G | GATGATTA others(2): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02257.hp1 HG03490.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029a0001c0001t0002g0153a0001c0001t0002g0196 | 3 | 201 | 0.0149 | 9 | c.948 others(28): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/4 | chrX | TogoVar | ||||||
HS6ST2_chrX_132621015_132963629 | 132794574 | G | GATTATTA others(2): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0150 | 1 | 201 | 0.0050 | 9 | c.948 others(28): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/4 | chrX | TogoVar | ||||||
HS6ST2_chrX_132621015_132963629 | 132812405 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02738.hp1 HG03516.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0156a0001c0001t0002g0011a0001c0001t0002g0012others(1): Show | 4 | 201 | 0.0199 | 9 | c.948 others(30): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/4 | chrX | TogoVar | ||||||
HS6ST2_chrX_132621015_132963629 | 132812408 | T | TAATAATA others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01255.hp1 HG01516.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0064a0001c0001t0002g0006a0001c0001t0002g0010others(4): Show | 7 | 201 | 0.0348 | 9 | c.948 others(30): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/4 | chrX | TogoVar | ||||||
HS6ST2_chrX_132621015_132963629 | 132823853 | A | AAAAAATA others(2): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03041.hp2 HG03579.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0004a0001c0002t0002g0076a0001c0002t0003g0075 | 3 | 201 | 0.0149 | 9 | c.948 others(30): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/4 | chrX | TogoVar | ||||||
HS6ST2_chrX_132621015_132963629 | 132823853 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00738.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0038others(17): Show | 20 | 201 | 0.0995 | 9 | c.948 others(30): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/4 | chrX | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96122110 | G | GTATTATT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00558.hp2 others(50): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0038a0001c0001t0001g0043a0001c0001t0001g0048others(50): Show | 53 | 116 | 0.4569 | 9 | c.707 others(28): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
HS6ST3_chr13_96085107_96844562 | 96128865 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01109.hp2 HG03130.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013a0001c0001t0035 | a0001c0001t0001g0041a0001c0001t0001g0105a0001c0001t0013g0107others(2): Show | 5 | 116 | 0.0431 | 9 | c.707 others(28): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | chr13 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96688213 | T | TATAATAA others(2): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02080.hp2 HG02145.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0091a0001c0001t0001g0114a0001c0001t0002g0009others(9): Show | 12 | 116 | 0.1035 | 9 | c.708 others(30): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
HSBP1L1_chr18_79959643_79975822 | 79969343 | G | GAAAGAAA others(2): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01175.hp2 HG01515.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004a0001c0001t0003g0045a0001c0001t0003g0117 | 11 | 412 | 0.0267 | 9 | c.214 others(26): 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(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(29): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0003a0001c0001t0001g0014a0001c0001t0001g0036others(11): Show | 32 | 412 | 0.0777 | 9 | c.214 others(26): Show |
HSBP1L1 | ENSG00000226742.4 | transcript | ENST00000451882.3 | protein_coding | 3/3 | chr18 | TogoVar | ||||||
HSD17B11_chr4_87331515_87396188 | 87357948 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02559.hp1 HG02723.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0176a0001c0001t0001g0194a0001c0001t0001g0300others(5): Show | 8 | 390 | 0.0205 | 9 | c.558 others(24): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 4/6 | chr4 | TogoVar | ||||||
HSD17B11_chr4_87331515_87396188 | 87357949 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01978.hp1 NA18977.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0031a0001c0001t0003g0092a0001c0001t0003g0095others(5): Show | 8 | 390 | 0.0205 | 9 | c.558 others(24): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 4/6 | chr4 | TogoVar | ||||||
HSD17B12_chr11_43675738_43861615 | 43706721 | T | TGTGTGTG others(2): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02723.hp1 HG03130.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0171a0002c0002t0002g0172a0002c0002t0002g0176others(1): Show | 4 | 280 | 0.0143 | 9 | c.160 others(28): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 1/10 | chr11 | TogoVar | ||||||
HSD17B12_chr11_43675738_43861615 | 43742140 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02965.hp2 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011 | a0001c0001t0003g0268a0001c0001t0003g0269a0001c0001t0003g0279others(1): Show | 4 | 280 | 0.0143 | 9 | c.161 others(26): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 1/10 | chr11 | TogoVar | ||||||
HSD17B12_chr11_43675738_43861615 | 43807009 | A | ACACTGTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(180): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(8): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(180): Show | 183 | 280 | 0.6536 | 9 | c.392 others(26): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HSD17B12_chr11_43675738_43861615 | 43847715 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00639.hp2 others(34): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0003t0001a0003c0004t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(34): Show | 37 | 280 | 0.1321 | 9 | c.685 others(26): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HSD17B14_chr19_48808018_48841491 | 48811494 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG01109.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0224a0001c0004t0001g0145a0002c0002t0001g0007others(6): Show | 9 | 394 | 0.0228 | 9 | c.*16 others(20): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 1523 | chr19 | TogoVar | ||||||
HSD17B3_chr9_96230306_96307176 | 96277672 | A | AATAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(214): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0009a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0007a0001c0001t0001g0014a0001c0001t0001g0017others(214): Show | 217 | 374 | 0.5802 | 9 | c.201 others(28): Show |
HSD17B3 | ENSG00000130948.10 | transcript | ENST00000375263.8 | protein_coding | 2/10 | chr9 | TogoVar | ||||||
HSD17B7_chr1_162785702_162817823 | 162788037 | A | ATATATAT others(2): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02965.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001a0001c0001t0002g0189 | 3 | 420 | 0.0071 | 9 | c.-27 others(20): Show |
HSD17B7 | ENSG00000132196.16 | transcript | ENST00000254521.8 | protein_coding | 2664 | chr1 | TogoVar | ||||||
HSD3B2_chr1_119410150_119428034 | 119423922 | C | CTTTTTCT others(2): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG02818.hp1 HG02895.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0009a0001c0001t0002g0029a0001c0001t0004g0036 | 12 | 442 | 0.0272 | 9 | c.*13 others(20): Show |
HSD3B2 | ENSG00000203859.10 | transcript | ENST00000369416.4 | protein_coding | 889 | chr1 | TogoVar | ||||||
HSDL1_chr16_84117141_84150177 | 84148596 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG01261.hp1 HG02004.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0030others(15): Show | 21 | 448 | 0.0469 | 9 | c.-35 others(20): Show |
HSDL1 | ENSG00000103160.12 | transcript | ENST00000219439.9 | protein_coding | 3420 | chr16 | TogoVar | ||||||
HSDL2_chr9_112375108_112477405 | 112391178 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00741.hp1 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(3): Show | a0001c0001t0001g0005a0001c0001t0001g0060a0001c0001t0001g0068others(51): Show | 55 | 366 | 0.1503 | 9 | c.17+ others(26): Show |
HSDL2 | ENSG00000119471.15 | transcript | ENST00000398805.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
HSF5_chr17_58415167_58493408 | 58433911 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(128): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0023a0001c0001t0001g0026others(126): Show | 131 | 332 | 0.3946 | 9 | c.172 others(30): Show |
HSF5 | ENSG00000176160.11 | transcript | ENST00000323777.8 | protein_coding | 5/5 | chr17 | TogoVar | ||||||
HSFX1_chrX_149769068_149781867 | 149775359 | C | CCATCGCT others(2): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 253 | 0.0040 | 9 | c.564 others(24): Show |
HSFX1 | ENSG00000171116.7 | transcript | ENST00000370416.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
HSH2D_chr19_16138685_16163575 | 16159722 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00438.hp1 others(76): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(51): Show | 79 | 394 | 0.2005 | 9 | c.*19 others(20): Show |
HSH2D | ENSG00000196684.12 | transcript | ENST00000613986.4 | protein_coding | 1148 | chr19 | TogoVar | ||||||
HSP90B1_chr12_103925410_103952926 | 103948040 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG01168.hp1 HG01515.hp1 HG02055.hp1 others(9): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0001t0004a0001c0008t0004 | a0001c0001t0002g0042a0001c0001t0002g0107a0001c0001t0004g0052others(7): Show | 12 | 458 | 0.0262 | 9 | c.*37 others(18): Show |
HSP90B1 | ENSG00000166598.16 | transcript | ENST00000299767.10 | protein_coding | 115 | chr12 | TogoVar | ||||||
HSPA12A_chr10_116666192_116747566 | 116696002 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00544.hp2 others(27): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(5): Show | a0001c0001t0001g0218a0001c0001t0001g0233a0001c0001t0001g0241others(27): Show | 30 | 320 | 0.0938 | 9 | c.546 others(26): Show |
HSPA12A | ENSG00000165868.16 | transcript | ENST00000369209.8 | protein_coding | 5/11 | chr10 | TogoVar | ||||||
HSPA1L_chr6_31804619_31820283 | 31809556 | A | ACACACAC others(2): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 NA18522.hp1 NA18985.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0017others(1): Show | 4 | 429 | 0.0093 | 9 | c.*49 others(18): Show |
HSPA1L | ENSG00000204390.10 | transcript | ENST00000375654.5 | protein_coding | 62 | chr6 | TogoVar |