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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HOXC5_chr12_54028050_54040361 | 54037613 | ACCCTCTC others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00544.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0010 | a0001c0001t0002g0002 a0001c0001t0003g0001 a0001c0001t0010g0001 |
38 | 412 | 0.0922 | -9 | c.*31 others(20): Show |
HOXC5 | ENSG00000172789.4 | transcript | ENST00000312492.3 | protein_coding | 2253 | chr12 | TogoVar | |||||||
HOXD10_chr2_176111778_176124937 | 176115131 | ATGGTGGT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01884.hp1 HG01891.hp1 others(45): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(19): Show | a0001c0001t0002g0015 a0001c0001t0004g0001 a0001c0001t0004g0012 others(24): Show |
48 | 425 | 0.1129 | -9 | c.-17 others(20): Show |
HOXD10 | ENSG00000128710.6 | transcript | ENST00000249501.5 | protein_coding | 1646 | chr2 | TogoVar | |||||||
HOXD1_chr2_176183668_176195907 | 176195844 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(65): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0003g0002 others(2): Show |
68 | 162 | 0.4198 | -9 | c.*57 others(20): Show |
HOXD1 | ENSG00000128645.15 | transcript | ENST00000331462.6 | protein_coding | 4938 | chr2 | TogoVar | |||||||
HOXD3_chr2_176152307_176178098 | 176167686 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(134): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(42): Show |
137 | 183 | 0.7486 | -9 | c.-84 others(26): Show |
HOXD3 | ENSG00000128652.12 | transcript | ENST00000683222.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HP1BP3_chr1_20735266_20792307 | 20773844 | AATTAGCA others(2): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01074.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0014 | a0001c0002t0010g0207 a0001c0002t0010g0208 a0001c0002t0010g0211 others(1): Show |
5 | 376 | 0.0133 | -9 | c.351 others(24): Show |
HP1BP3 | ENSG00000127483.19 | transcript | ENST00000438032.6 | protein_coding | 4/12 | chr1 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10299635 | AAACAACA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01081.hp1 HG01192.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0034 a0001c0001t0001g0206 a0001c0001t0001g0231 others(6): Show |
9 | 105 | 0.0857 | -9 | c.-36 others(20): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 3268 | chr2 | TogoVar | |||||||
HPD_chr12_121834527_121863859 | 121835019 | CTTTCTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00735.hp1 others(42): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0037 others(31): Show |
45 | 404 | 0.1114 | -9 | c.*47 others(20): Show |
HPD | ENSG00000158104.11 | transcript | ENST00000289004.8 | protein_coding | 4507 | chr12 | TogoVar | |||||||
HPD_chr12_121834527_121863859 | 121852622 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(161): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0001c0007others(4): Show | a0001c0001t0001a0001c0004t0001a0001c0007t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(88): Show |
164 | 202 | 0.8119 | -9 | c.414 others(26): Show |
HPD | ENSG00000158104.11 | transcript | ENST00000289004.8 | protein_coding | 7/13 | chr12 | TogoVar | |||||||
HPN_chr19_35036721_35071573 | 35036732 | CTATTATT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00544.hp2 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0016 a0001c0001t0001g0035 a0001c0001t0001g0038 others(46): Show |
53 | 308 | 0.1721 | -9 | c.-51 others(20): Show |
HPN | ENSG00000105707.15 | transcript | ENST00000672452.2 | protein_coding | 4988 | chr19 | TogoVar | |||||||
HPN_chr19_35036721_35071573 | 35062896 | AATAACGG others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(308): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(265): Show |
311 | 382 | 0.8141 | -9 | c.811 others(26): Show |
HPN | ENSG00000105707.15 | transcript | ENST00000672452.2 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HPR_chr16_72058226_72082246 | 72059891 | AGAAAAGT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02717.hp2 HG02965.hp2 others(4): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0004 a0003c0003t0001g0018 a0003c0003t0001g0025 others(2): Show |
7 | 410 | 0.0171 | -9 | c.-33 others(20): Show |
HPR | ENSG00000261701.9 | transcript | ENST00000540303.7 | protein_coding | 3334 | chr16 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 98454864 | TAAAAATA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00597.hp1 HG01109.hp2 HG01167.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0033 a0001c0001t0004g0064 a0001c0001t0004g0070 others(4): Show |
7 | 140 | 0.0500 | -9 | c.*47 others(20): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 2212 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 98552293 | GATCATCA others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00423.hp2 others(42): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0013 others(42): Show |
45 | 126 | 0.3571 | -9 | c.132 others(30): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 9/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 98594068 | AAATATGT others(2): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp1 |
a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0078 a0002c0002t0012g0080 |
2 | 142 | 0.0141 | -9 | c.132 others(30): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 9/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 98726630 | TATAATAA others(2): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG00639.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(4): Show | a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0023 others(16): Show |
19 | 57 | 0.3333 | -9 | c.785 others(26): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 4/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 99094540 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG01109.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0017others(3): Show | a0001c0001t0001g0034 a0001c0001t0001g0059 a0001c0001t0001g0060 others(7): Show |
10 | 56 | 0.1786 | -9 | c.610 others(28): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 99117415 | TTGAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG02129.hp1 NA18747.hp2 NA18944.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0002 | a0001c0001t0001g0059 a0001c0001t0004g0033 a0002c0002t0002g0037 others(1): Show |
4 | 142 | 0.0282 | -9 | c.610 others(28): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 99117417 | GAAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01981.hp1 HG02622.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0032others(1): Show | a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0005g0091 others(2): Show |
5 | 33 | 0.1515 | -9 | c.610 others(28): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | |||||||
HPSE_chr4_83287461_83339848 | 83339746 | AAATAATA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG01106.hp2 HG02559.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0038 a0001c0001t0001g0040 others(1): Show |
4 | 138 | 0.0290 | -9 | c.-49 others(20): Show |
HPSE | ENSG00000173083.16 | transcript | ENST00000311412.10 | protein_coding | 4899 | chr4 | TogoVar | |||||||
HRAS_chr11_527242_540576 | 535289 | CCCGCCGC others(2): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG00741.hp1 NA18943.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0024 |
13 | 215 | 0.0605 | -9 | c.-54 others(24): Show |
HRAS | ENSG00000174775.18 | transcript | ENST00000311189.8 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
HRG_chr3_186661014_186683234 | 186672953 | GGAAGGAG others(2): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG03041.hp1 HG03098.hp1 others(1): Show |
a0010 | a0010c0010 | a0010c0010t0001 | a0010c0010t0001g0041 a0010c0010t0001g0103 a0010c0010t0001g0150 |
4 | 470 | 0.0085 | -9 | c.639 others(23): Show |
HRG | ENSG00000113905.5 | transcript | ENST00000232003.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
HRH1_chr3_11149493_11268557 | 11224699 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00544.hp1 others(88): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0062 a0001c0001t0001g0075 a0001c0001t0001g0076 others(88): Show |
91 | 336 | 0.2708 | -9 | c.-35 others(28): Show |
HRH1 | ENSG00000196639.7 | transcript | ENST00000431010.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
HRH1_chr3_11149493_11268557 | 11237664 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01169.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0080 a0001c0001t0001g0122 a0001c0001t0001g0155 others(12): Show |
15 | 36 | 0.4167 | -9 | c.-35 others(28): Show |
HRH1 | ENSG00000196639.7 | transcript | ENST00000431010.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
HR_chr8_22109419_22136010 | 22113648 | AATTATTA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02896.hp1 HG03139.hp1 others(1): Show |
a0001a0008a0011 | a0001c0003a0008c0008a0011c0014 | a0001c0003t0002a0008c0008t0003a0011c0014t0002 | a0001c0003t0002g0090 a0008c0008t0003g0109 a0011c0014t0002g0030 |
4 | 111 | 0.0360 | -9 | c.*20 others(20): Show |
HR | ENSG00000168453.16 | transcript | ENST00000381418.9 | protein_coding | 770 | chr8 | TogoVar | |||||||
HS2ST1_chr1_86909635_87114982 | 86954040 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01891.hp2 HG02055.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0143 others(4): Show |
7 | 50 | 0.1400 | -9 | c.124 others(28): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HS3ST2_chr16_22809162_22921338 | 22868405 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG02622.hp2 HG03098.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0003others(1): Show | a0001c0001t0001g0174 a0001c0002t0001g0013 a0001c0003t0003g0028 others(3): Show |
6 | 198 | 0.0303 | -9 | 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 | 13586871 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp2 others(150): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0131 a0001c0001t0001g0174 a0001c0001t0002g0092 others(150): Show |
153 | 157 | 0.9745 | -9 | c.599 others(28): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
HS3ST4_chr16_25686959_26142685 | 25692305 | AGCGGCGG others(2): Show |
A | 5_prime_UTR_variant | MODIFIER | HG02257.hp2 HG03225.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0025a0001c0009t0024 | a0001c0001t0025g0138 a0001c0009t0024g0139 |
2 | 62 | 0.0323 | -9 | c.-87 others(16): Show |
HS3ST4 | ENSG00000182601.7 | transcript | ENST00000331351.6 | protein_coding | 1/2 | 79 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
HS3ST4_chr16_25686959_26142685 | 25845647 | GTAATAAT others(2): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG02976.hp1 NA19030.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0003a0001c0001t0004a0003c0004t0003 | a0001c0001t0003g0132 a0001c0001t0004g0051 a0003c0004t0003g0163 |
3 | 12 | 0.2500 | -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 | 25939321 | TATTATTA others(2): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0106 a0001c0001t0007g0141 |
2 | 164 | 0.0122 | -9 | c.735 others(30): Show |
HS3ST4 | ENSG00000182601.7 | transcript | ENST00000331351.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HS3ST4_chr16_25686959_26142685 | 26085877 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG01934.hp2 HG02055.hp2 HG02257.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0003g0134 a0001c0001t0003g0150 a0001c0001t0004g0051 others(3): Show |
6 | 51 | 0.1176 | -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 | 114060021 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00733.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0120 others(25): Show |
28 | 203 | 0.1379 | -9 | c.108 others(26): Show |
HS3ST5 | ENSG00000249853.9 | transcript | ENST00000312719.10 | protein_coding | 4/4 | chr6 | TogoVar | |||||||
HS6ST1_chr2_128260480_128323868 | 128280884 | GGCAGAGC others(2): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02451.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0031a0001c0001t0090 | a0001c0001t0012g0025 a0001c0001t0031g0265 a0001c0001t0090g0267 |
3 | 292 | 0.0103 | -9 | c.528 others(28): Show |
HS6ST1 | ENSG00000136720.7 | transcript | ENST00000259241.7 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
HS6ST2_chrX_132621015_132963629 | 132812405 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00621.hp1 others(43): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0038 others(43): Show |
46 | 87 | 0.5287 | -9 | c.948 others(30): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/4 | chrX | TogoVar | |||||||
HS6ST3_chr13_96085107_96844562 | 96258004 | TTGTCATC others(2): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG01261.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0005 a0001c0001t0001g0043 a0001c0001t0001g0065 others(7): Show |
10 | 116 | 0.0862 | -9 | c.707 others(30): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96304702 | TCTTTCTT others(2): Show |
T | intron_variant | MODIFIER | HG01106.hp2 NA18979.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0093 a0001c0001t0006g0020 |
2 | 116 | 0.0172 | -9 | c.707 others(30): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
HS6ST3_chr13_96085107_96844562 | 96317342 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01074.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0005g0085 |
3 | 116 | 0.0259 | -9 | c.707 others(30): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
HS6ST3_chr13_96085107_96844562 | 96431225 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02055.hp2 others(6): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0012a0001c0001t0013others(3): Show | a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0114 others(6): Show |
9 | 32 | 0.2813 | -9 | c.707 others(30): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96602194 | TTTGTTGT others(2): Show |
T | intron_variant | MODIFIER | HG03098.hp1 HG03130.hp1 HG03139.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0013a0001c0001t0026a0001c0003t0006 | a0001c0001t0013g0107 a0001c0001t0013g0108 a0001c0001t0026g0081 others(1): Show |
4 | 116 | 0.0345 | -9 | c.708 others(30): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
HSCB_chr22_28737039_28762510 | 28750247 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(183): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0011 others(120): Show |
186 | 285 | 0.6526 | -9 | c.569 others(24): Show |
HSCB | ENSG00000100209.11 | transcript | ENST00000216027.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
HSD17B12_chr11_43675738_43861615 | 43690379 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG01928.hp2 HG02523.hp2 HG02602.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 others(9): Show |
12 | 276 | 0.0435 | -9 | c.160 others(26): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 1/10 | chr11 | TogoVar | |||||||
HSD17B12_chr11_43675738_43861615 | 43690381 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01261.hp1 HG03704.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 others(1): Show |
4 | 278 | 0.0144 | -9 | c.160 others(26): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 1/10 | chr11 | TogoVar | |||||||
HSD17B12_chr11_43675738_43861615 | 43784301 | ATATTATT others(2): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0032 others(3): Show |
6 | 123 | 0.0488 | -9 | c.284 others(28): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HSD17B12_chr11_43675738_43861615 | 43847664 | GTCACTGC others(2): Show |
G | intron_variant | MODIFIER | HG01261.hp2 HG01884.hp2 HG02809.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(6): Show |
9 | 278 | 0.0324 | -9 | c.685 others(26): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HSD17B12_chr11_43675738_43861615 | 43853337 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(90): Show |
a0002a0004 | a0002c0002a0004c0005 | a0002c0002t0002a0002c0002t0004a0002c0002t0005others(4): Show | a0002c0002t0002g0001 a0002c0002t0002g0004 a0002c0002t0002g0025 others(89): Show |
93 | 139 | 0.6691 | -9 | c.685 others(26): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HSD17B2_chr16_82030253_82103534 | 82090302 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01433.hp1 HG02055.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0238 a0001c0001t0001g0276 a0001c0001t0001g0277 others(4): Show |
7 | 66 | 0.1061 | -9 | c.665 others(24): Show |
HSD17B2 | ENSG00000086696.11 | transcript | ENST00000199936.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HSD17B3_chr9_96230306_96307176 | 96235628 | ATCTTTGT others(2): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp2 others(154): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0009a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0023 others(153): Show |
157 | 372 | 0.4220 | -9 | c.823 others(22): Show |
HSD17B3 | ENSG00000130948.10 | transcript | ENST00000375263.8 | protein_coding | 10/10 | chr9 | TogoVar | |||||||
HSD17B6_chr12_56758324_56792790 | 56762256 | ATATATAT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00738.hp1 HG02630.hp2 HG02896.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 a0001c0001t0001g0113 a0001c0001t0001g0114 others(3): Show |
6 | 327 | 0.0183 | -9 | c.-11 others(20): Show |
HSD17B6 | ENSG00000025423.11 | transcript | ENST00000322165.1 | protein_coding | 1067 | chr12 | TogoVar | |||||||
HSD17B7_chr1_162785702_162817823 | 162788024 | TAAAAAAA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(150): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0014 others(78): Show |
153 | 222 | 0.6892 | -9 | c.-27 others(20): Show |
HSD17B7 | ENSG00000132196.16 | transcript | ENST00000254521.8 | protein_coding | 2677 | chr1 | TogoVar | |||||||
HSD3B2_chr1_119410150_119428034 | 119418615 | CTTTTATT others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02647.hp1 HG02976.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 a0001c0001t0002g0016 a0001c0001t0002g0019 |
9 | 368 | 0.0245 | -9 | c.143 others(24): Show |
HSD3B2 | ENSG00000203859.10 | transcript | ENST00000369416.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |