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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BEND5_chr1_48722519_48781891 | 48769526 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02622.hp2 HG03688.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 others(5): Show |
8 | 342 | 0.0234 | 10 | c.226 others(27): Show |
BEND5 | ENSG00000162373.13 | transcript | ENST00000371833.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
BEND6_chr6_56950107_57032346 | 56965676 | T | TTATATAT others(3): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 204 | 0.0049 | 10 | c.-10 others(31): Show |
BEND6 | ENSG00000151917.18 | transcript | ENST00000370746.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BEND7_chr10_13436088_13534014 | 13470431 | T | TGTGACAA others(3): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG03195.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001a0001c0003t0009 | a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0003t0001g0120 others(1): Show |
4 | 300 | 0.0133 | 10 | c.106 others(31): Show |
BEND7 | ENSG00000165626.19 | transcript | ENST00000466271.3 | protein_coding | 6/8 | chr10 | TogoVar | |||||||
BEND7_chr10_13436088_13534014 | 13487738 | G | GCCAAGCA others(3): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 300 | 0.0033 | 10 | c.837 others(27): Show |
BEND7 | ENSG00000165626.19 | transcript | ENST00000466271.3 | protein_coding | 5/8 | chr10 | TogoVar | |||||||
BEST3_chr12_69648609_69704303 | 69680310 | C | CTTCTTTT others(3): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0183 | 1 | 366 | 0.0027 | 10 | c.482 others(27): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4/9 | chr12 | TogoVar | |||||||
BEST3_chr12_69648609_69704303 | 69684981 | G | GTTCTATT others(3): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(58): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0030 others(51): Show |
61 | 366 | 0.1667 | 10 | c.482 others(27): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4/9 | chr12 | TogoVar | |||||||
BEST3_chr12_69648609_69704303 | 69686786 | A | AAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02559.hp2 others(3): Show |
a0001a0004a0006 | a0001c0001a0004c0005a0006c0016 | a0001c0001t0007a0004c0005t0005a0006c0016t0001 | a0001c0001t0007g0235 a0004c0005t0005g0205 a0004c0005t0005g0212 others(3): Show |
6 | 366 | 0.0164 | 10 | c.481 others(27): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4/9 | chr12 | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103059972 | A | ATCTCTCT others(3): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0036 | 1 | 339 | 0.0030 | 10 | c.*29 others(21): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2678 | chrX | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103060006 | C | CTATATAT others(3): Show |
downstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 339 | 0.0030 | 10 | c.*28 others(21): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2644 | chrX | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103060008 | C | CTATATAT others(3): Show |
downstream_gene_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 339 | 0.0030 | 10 | c.*28 others(21): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2642 | chrX | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103060010 | C | CTATATAT others(3): Show |
downstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 339 | 0.0030 | 10 | c.*28 others(21): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2640 | chrX | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103060014 | C | CTATATAT others(3): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 339 | 0.0030 | 10 | c.*28 others(21): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2636 | chrX | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103060016 | C | CTCTATAT others(3): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 339 | 0.0030 | 10 | c.*28 others(21): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2634 | chrX | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103060016 | C | CTCTCTAT others(3): Show |
downstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 339 | 0.0030 | 10 | c.*28 others(21): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2634 | chrX | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103060016 | C | CTCTCTCT others(3): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 339 | 0.0030 | 10 | c.*28 others(21): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2634 | chrX | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103065997 | T | TTATATAT others(3): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG01928.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0020 others(2): Show |
21 | 339 | 0.0620 | 10 | c.-19 others(21): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 1827 | chrX | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103066003 | A | ATGTGTGT others(3): Show |
upstream_gene_variant | MODIFIER | NA18964.hp2 NA18973.hp2 NA18980.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 a0001c0001t0002g0019 |
3 | 339 | 0.0089 | 10 | c.-20 others(21): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 1833 | chrX | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103066049 | G | GTGTGTGT others(3): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 HG01099.hp1 HG01256.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
9 | 339 | 0.0266 | 10 | c.-20 others(21): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 1879 | chrX | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103066049 | G | GTGTGTGT others(3): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 339 | 0.0059 | 10 | c.-20 others(21): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 1879 | chrX | TogoVar | |||||||
BEX2_chrX_103304346_103315990 | 103309250 | G | GTATATAT others(3): Show |
downstream_gene_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 308 | 0.0033 | 10 | c.*33 others(19): Show |
BEX2 | ENSG00000133134.12 | transcript | ENST00000372677.8 | protein_coding | 95 | chrX | TogoVar | |||||||
BEX5_chrX_102148712_102160977 | 102153606 | C | CATATATA others(3): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 HG03098.hp1 HG03453.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0002g0008 others(1): Show |
7 | 324 | 0.0216 | 10 | c.*32 others(19): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 105 | chrX | TogoVar | |||||||
BFSP1_chr20_17488905_17536379 | 17526141 | C | CGGGGGGG others(3): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02698.hp1 HG03098.hp2 |
a0001a0002a0003 | a0001c0003a0002c0001a0003c0007 | a0001c0003t0001a0002c0001t0002a0003c0007t0002 | a0001c0003t0001g0283 a0002c0001t0002g0269 a0003c0007t0002g0072 |
3 | 396 | 0.0076 | 10 | c.378 others(27): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 1/7 | chr20 | TogoVar | |||||||
BFSP1_chr20_17488905_17536379 | 17529064 | A | AGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00609.hp1 others(55): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0003others(3): Show | a0001c0002t0001g0330 a0001c0002t0001g0333 a0001c0002t0001g0334 others(50): Show |
58 | 396 | 0.1465 | 10 | c.377 others(27): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 1/7 | chr20 | TogoVar | |||||||
BFSP2_chr3_133395056_133480208 | 133409227 | G | GGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02257.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0017 others(3): Show |
6 | 276 | 0.0217 | 10 | c.489 others(27): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133424222 | T | TTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 276 | 0.0036 | 10 | c.490 others(29): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133425913 | G | GGGCAAGG others(3): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01081.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0022 others(15): Show |
19 | 276 | 0.0688 | 10 | c.490 others(29): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133425985 | C | CAGGGCAG others(3): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01928.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0178 a0001c0002t0001g0194 |
2 | 276 | 0.0073 | 10 | c.490 others(29): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133446570 | T | TTATATAT others(3): Show |
intron_variant | MODIFIER | NA18956.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 a0001c0001t0001g0245 |
2 | 276 | 0.0073 | 10 | c.490 others(25): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133446570 | T | TTTTATAT others(3): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 | 1 | 276 | 0.0036 | 10 | c.490 others(25): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133449963 | G | GAAGGAAA others(3): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG01106.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0051 others(13): Show |
16 | 276 | 0.0580 | 10 | c.730 others(25): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133449982 | A | AGGAAGGA others(3): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0221 | 1 | 276 | 0.0036 | 10 | c.730 others(25): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 3/6 | chr3 | TogoVar | |||||||
BFSP2_chr3_133395056_133480208 | 133466677 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00621.hp1 HG00735.hp1 others(50): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0025 others(50): Show |
53 | 276 | 0.1920 | 10 | c.892 others(25): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BGLAP_chr1_156237184_156248317 | 156240585 | C | CAAAAAAA others(3): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00558.hp1 others(107): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(1): Show |
110 | 400 | 0.2750 | 10 | c.-16 others(21): Show |
BGLAP | ENSG00000242252.2 | transcript | ENST00000368272.5 | protein_coding | 1598 | chr1 | TogoVar | |||||||
BGN_chrX_153489980_153514546 | 153491151 | A | AGTTCTTG others(3): Show |
upstream_gene_variant | MODIFIER | HG02897.hp2 | a0004 | a0004c0011 | a0004c0011t0039 | a0004c0011t0039g0049 | 1 | 321 | 0.0031 | 10 | c.-39 others(21): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 3828 | chrX | TogoVar | |||||||
BGN_chrX_153489980_153514546 | 153500763 | A | ATGTGTGC others(3): Show |
intron_variant | MODIFIER | HG02886.hp2 NA19083.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0066a0001c0003t0001 | a0001c0002t0066g0202 a0001c0003t0001g0112 |
2 | 321 | 0.0062 | 10 | c.-11 others(27): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
BGN_chrX_153489980_153514546 | 153509055 | C | CTTTCTGT others(3): Show |
3_prime_UTR_variant | MODIFIER | HG02155.hp1 HG02155.hp2 |
a0001 | a0001c0004 | a0001c0004t0028a0001c0004t0080 | a0001c0004t0028g0036 a0001c0004t0080g0015 |
2 | 321 | 0.0062 | 10 | c.*61 others(19): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 8/8 | 612 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BGN_chrX_153489980_153514546 | 153509061 | C | CTGTGTGT others(3): Show |
3_prime_UTR_variant | MODIFIER | HG02615.hp2 HG02976.hp2 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0044a0001c0005t0059 | a0001c0003t0044g0156 a0001c0005t0059g0062 |
2 | 321 | 0.0062 | 10 | c.*65 others(19): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 8/8 | 662 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BHLHA15_chr7_98206439_98220457 | 98215958 | C | CACAGTTT others(3): Show |
downstream_gene_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0003 | 1 | 456 | 0.0022 | 10 | c.*30 others(21): Show |
BHLHA15 | ENSG00000180535.4 | transcript | ENST00000609256.2 | protein_coding | 502 | chr7 | TogoVar | |||||||
BHLHA15_chr7_98206439_98220457 | 98216321 | G | GCAGTCTG others(3): Show |
downstream_gene_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0001 | 1 | 456 | 0.0022 | 10 | c.*34 others(21): Show |
BHLHA15 | ENSG00000180535.4 | transcript | ENST00000609256.2 | protein_coding | 865 | chr7 | TogoVar | |||||||
BHLHA9_chr17_1265444_1276815 | 1268402 | G | GCCCCGCC others(3): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG01515.hp1 HG01517.hp1 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0000 a0001c0002t0002g0000 |
14 | 442 | 0.0317 | 10 | c.-21 others(21): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 2041 | chr17 | TogoVar | |||||||
BHLHE23_chr20_63000927_63011964 | 63009582 | A | AGCGGCTC others(3): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(214): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0010others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(10): Show |
217 | 446 | 0.4866 | 10 | c.-28 others(21): Show |
BHLHE23 | ENSG00000125533.6 | transcript | ENST00000612929.2 | protein_coding | 2619 | chr20 | TogoVar | |||||||
BHLHE23_chr20_63000927_63011964 | 63009585 | G | GGCTCCGC others(3): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00741.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 446 | 0.0045 | 10 | c.-28 others(21): Show |
BHLHE23 | ENSG00000125533.6 | transcript | ENST00000612929.2 | protein_coding | 2622 | chr20 | TogoVar | |||||||
BHLHE40_chr3_4974437_4990323 | 4983829 | G | GGTGTGTG others(3): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG01070.hp1 HG01071.hp2 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0001t0033a0001c0001t0034others(1): Show | a0001c0001t0006g0006 a0001c0001t0006g0015 a0001c0001t0006g0020 others(5): Show |
16 | 436 | 0.0367 | 10 | c.*15 others(19): Show |
BHLHE40 | ENSG00000134107.5 | transcript | ENST00000256495.4 | protein_coding | 5/5 | 164 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BHLHE40_chr3_4974437_4990323 | 4983850 | G | GTGTGTGT others(3): Show |
3_prime_UTR_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0002 | a0001c0002t0031 | a0001c0002t0031g0029 | 1 | 436 | 0.0023 | 10 | c.*16 others(19): Show |
BHLHE40 | ENSG00000134107.5 | transcript | ENST00000256495.4 | protein_coding | 5/5 | 164 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BHMT2_chr5_79064767_79095069 | 79087010 | G | GTATATAT others(3): Show |
intron_variant | MODIFIER | HG02615.hp2 NA18747.hp2 NA18972.hp2 others(2): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0011 | a0001c0002t0002a0001c0002t0010a0002c0003t0006others(1): Show | a0001c0002t0002g0137 a0001c0002t0002g0155 a0001c0002t0010g0151 others(2): Show |
5 | 390 | 0.0128 | 10 | c.101 others(29): Show |
BHMT2 | ENSG00000132840.10 | transcript | ENST00000255192.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT2_chr5_79064767_79095069 | 79087014 | G | GTATATAT others(3): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02886.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0005 | a0001c0002t0001g0114 a0001c0004t0005g0196 |
2 | 390 | 0.0051 | 10 | c.101 others(29): Show |
BHMT2 | ENSG00000132840.10 | transcript | ENST00000255192.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT2_chr5_79064767_79095069 | 79087014 | G | GTGTGCAT others(3): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0179 | 1 | 390 | 0.0026 | 10 | c.101 others(29): Show |
BHMT2 | ENSG00000132840.10 | transcript | ENST00000255192.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT2_chr5_79064767_79095069 | 79088358 | C | CTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02630.hp1 HG02818.hp2 others(1): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0002c0003t0001 | a0001c0002t0002g0146 a0001c0002t0002g0169 a0002c0003t0001g0211 others(1): Show |
4 | 390 | 0.0103 | 10 | c.101 others(26): Show |
BHMT2 | ENSG00000132840.10 | transcript | ENST00000255192.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79137234 | T | TACATATA others(3): Show |
downstream_gene_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 432 | 0.0023 | 10 | c.*61 others(21): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 4947 | chr5 | TogoVar | |||||||
BICC1_chr10_58507872_58836435 | 58601140 | T | TAATATAT others(3): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01167.hp1 HG01243.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0002a0001c0001t0005a0002c0002t0004others(3): Show | a0001c0001t0002g0064 a0001c0001t0005g0014 a0002c0002t0004g0015 others(3): Show |
6 | 132 | 0.0455 | 10 | c.191 others(29): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | chr10 | TogoVar |