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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BEAN1_chr16_66422295_66487833 | 66474544 | A | AAGAGGGA others(5): Show |
intron_variant | MODIFIER | NA18969.hp1 NA18982.hp1 NA18982.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 a0001c0001t0001g0222 a0001c0001t0001g0240 |
3 | 298 | 0.0101 | 12 | c.290 others(29): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BEAN1_chr16_66422295_66487833 | 66474557 | A | AGAGGGAG others(5): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0019 | 1 | 298 | 0.0034 | 12 | c.290 others(29): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BEAN1_chr16_66422295_66487833 | 66474569 | A | AGAGGGAG others(5): Show |
intron_variant | MODIFIER | HG03927.hp2 NA18995.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0168 |
2 | 298 | 0.0067 | 12 | c.290 others(29): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BEAN1_chr16_66422295_66487833 | 66474581 | A | AGAGGGAG others(5): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 298 | 0.0034 | 12 | c.290 others(29): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BEAN1_chr16_66422295_66487833 | 66474618 | A | AAGGGAGG others(5): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0176 a0001c0001t0003g0198 a0001c0001t0003g0199 |
3 | 298 | 0.0101 | 12 | c.290 others(29): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BEAN1_chr16_66422295_66487833 | 66474622 | G | GAGGAAGG others(5): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0216 | 1 | 298 | 0.0034 | 12 | c.290 others(29): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BEGAIN_chr14_100532147_100592417 | 100538903 | T | TGGAAGCC others(5): Show |
conservative_inframe_insertion | MODERATE | NA18942.hp2 | a0007 | a0007c0018 | a0007c0018t0001 | a0007c0018t0001g0080 | 1 | 326 | 0.0031 | 12 | c.893 others(19): Show |
p.Pro others(13): Show |
BEGAIN | ENSG00000183092.18 | transcript | ENST00000554140.3 | protein_coding | 7/7 | 1031/2788 | 904/1839 | 302/612 | chr14 | TogoVar | |||
BEGAIN_chr14_100532147_100592417 | 100585415 | C | CCCATCCA others(5): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 326 | 0.0031 | 12 | c.42+ others(27): Show |
BEGAIN | ENSG00000183092.18 | transcript | ENST00000554140.3 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
BEND3_chr6_107060182_107120515 | 107103959 | A | AAAAGAAA others(5): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0125 | 1 | 368 | 0.0027 | 12 | c.-11 others(29): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
BEND3_chr6_107060182_107120515 | 107109442 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00609.hp1 others(98): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0002g0015 a0001c0001t0002g0021 a0001c0001t0002g0126 others(98): Show |
101 | 368 | 0.2745 | 12 | c.-12 others(29): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
BEND3_chr6_107060182_107120515 | 107119979 | C | CTATACAT others(5): Show |
upstream_gene_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0314 | 1 | 368 | 0.0027 | 12 | c.-49 others(23): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 4465 | chr6 | TogoVar | |||||||
BEND4_chr4_42105853_42157655 | 42123694 | G | GAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0008 | a0008c0010 | a0008c0010t0008 | a0008c0010t0008g0158 | 1 | 226 | 0.0044 | 12 | c.114 others(31): Show |
BEND4 | ENSG00000188848.17 | transcript | ENST00000502486.6 | protein_coding | 4/5 | chr4 | TogoVar | |||||||
BEND5_chr1_48722519_48781891 | 48762614 | T | TTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02615.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0140 a0001c0002t0002g0141 |
2 | 342 | 0.0059 | 12 | c.227 others(29): Show |
BEND5 | ENSG00000162373.13 | transcript | ENST00000371833.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
BEND5_chr1_48722519_48781891 | 48762656 | G | GTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 342 | 0.0029 | 12 | c.227 others(29): Show |
BEND5 | ENSG00000162373.13 | transcript | ENST00000371833.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
BEND5_chr1_48722519_48781891 | 48769526 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03130.hp2 HG03195.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0093 others(1): Show |
4 | 342 | 0.0117 | 12 | c.226 others(29): Show |
BEND5 | ENSG00000162373.13 | transcript | ENST00000371833.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
BEND5_chr1_48722519_48781891 | 48778135 | A | ACATCCAT others(5): Show |
upstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0241 | 1 | 342 | 0.0029 | 12 | c.-13 others(23): Show |
BEND5 | ENSG00000162373.13 | transcript | ENST00000371833.4 | protein_coding | 1245 | chr1 | TogoVar | |||||||
BEND7_chr10_13436088_13534014 | 13503712 | A | AAAACAAA others(5): Show |
intron_variant | MODIFIER | HG03041.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 a0001c0001t0001g0118 |
2 | 300 | 0.0067 | 12 | c.146 others(29): Show |
BEND7 | ENSG00000165626.19 | transcript | ENST00000466271.3 | protein_coding | 2/8 | chr10 | TogoVar | |||||||
BEST1_chr11_61945351_61969461 | 61951197 | A | ATTATTTA others(5): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02145.hp2 others(7): Show |
a0001 | a0001c0002a0001c0004a0001c0008others(1): Show | a0001c0002t0001a0001c0004t0001a0001c0008t0001others(1): Show | a0001c0002t0001g0012 a0001c0004t0001g0012 a0001c0004t0001g0061 others(4): Show |
10 | 410 | 0.0244 | 12 | c.-36 others(27): Show |
BEST1 | ENSG00000167995.17 | transcript | ENST00000378043.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BEST1_chr11_61945351_61969461 | 61953886 | A | AAAACAAA others(5): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02622.hp2 HG03471.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022 a0001c0002t0001g0065 a0001c0002t0001g0129 |
6 | 410 | 0.0146 | 12 | c.153 others(29): Show |
BEST1 | ENSG00000167995.17 | transcript | ENST00000378043.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BEST1_chr11_61945351_61969461 | 61957972 | T | TCAAACAA others(5): Show |
intron_variant | MODIFIER | HG02148.hp2 NA18964.hp1 NA18999.hp1 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0001 | a0001c0001t0001g0081 a0001c0001t0001g0094 a0001c0011t0001g0082 |
3 | 410 | 0.0073 | 12 | c.715 others(27): Show |
BEST1 | ENSG00000167995.17 | transcript | ENST00000378043.9 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BEST3_chr12_69648609_69704303 | 69656381 | G | GTCTGTCT others(5): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0237 | 1 | 366 | 0.0027 | 12 | c.110 others(29): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 9/9 | chr12 | TogoVar | |||||||
BEST3_chr12_69648609_69704303 | 69686786 | A | AAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00639.hp2 others(13): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0004a0001c0001t0009a0005c0007t0004others(1): Show | a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0043 others(12): Show |
16 | 366 | 0.0437 | 12 | c.481 others(29): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4/9 | chr12 | TogoVar | |||||||
BEST3_chr12_69648609_69704303 | 69700981 | T | TTCCCTCC others(5): Show |
upstream_gene_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 366 | 0.0027 | 12 | c.-17 others(23): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 1679 | chr12 | TogoVar | |||||||
BEST3_chr12_69648609_69704303 | 69700985 | T | TTCCCTCC others(5): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG02886.hp1 NA18906.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0071 a0001c0001t0001g0094 others(3): Show |
6 | 366 | 0.0164 | 12 | c.-17 others(23): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 1683 | chr12 | TogoVar | |||||||
BEST3_chr12_69648609_69704303 | 69700985 | T | TTCCTTCC others(5): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00673.hp1 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0022 |
3 | 366 | 0.0082 | 12 | c.-17 others(23): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 1683 | chr12 | TogoVar | |||||||
BEST4_chr1_44778585_44793170 | 44782629 | C | CAAATAAA others(5): Show |
downstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0016 | 1 | 390 | 0.0026 | 12 | c.*15 others(23): Show |
BEST4 | ENSG00000142959.5 | transcript | ENST00000372207.4 | protein_coding | 955 | chr1 | TogoVar | |||||||
BEST4_chr1_44778585_44793170 | 44792972 | T | TAAACAAA others(5): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 HG02451.hp1 NA18942.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0006 |
5 | 390 | 0.0128 | 12 | c.-52 others(23): Show |
BEST4 | ENSG00000142959.5 | transcript | ENST00000372207.4 | protein_coding | 4803 | chr1 | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103059972 | A | ATCTCTCT others(5): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 |
2 | 339 | 0.0059 | 12 | c.*29 others(23): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2678 | chrX | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103060012 | C | CTATATAT others(5): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0010 |
2 | 339 | 0.0059 | 12 | c.*28 others(23): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2638 | chrX | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103060016 | C | CTCTATAT others(5): Show |
downstream_gene_variant | MODIFIER | HG01257.hp2 HG01258.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0009 |
3 | 339 | 0.0089 | 12 | c.*28 others(23): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2634 | chrX | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103065997 | T | TTATATAT others(5): Show |
upstream_gene_variant | MODIFIER | HG01975.hp1 HG02293.hp2 NA18974.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0030 |
3 | 339 | 0.0089 | 12 | c.-19 others(23): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 1827 | chrX | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103066049 | G | GTGTGTGT others(5): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG01074.hp1 HG01943.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0002c0002t0001g0038 |
5 | 339 | 0.0148 | 12 | c.-20 others(23): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 1879 | chrX | TogoVar | |||||||
BEX3_chrX_103371538_103383164 | 103375602 | C | CTTTTTTT others(5): Show |
upstream_gene_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 298 | 0.0034 | 12 | c.-11 others(23): Show |
BEX3 | ENSG00000166681.14 | transcript | ENST00000361298.9 | protein_coding | 935 | chrX | TogoVar | |||||||
BEX5_chrX_102148712_102160977 | 102153606 | C | CATATATA others(5): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG02809.hp1 HG03669.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 |
3 | 324 | 0.0093 | 12 | c.*32 others(21): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 105 | chrX | TogoVar | |||||||
BFSP1_chr20_17488905_17536379 | 17526141 | C | CGGGGGGG others(5): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0282 | 1 | 396 | 0.0025 | 12 | c.378 others(29): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 1/7 | chr20 | TogoVar | |||||||
BFSP1_chr20_17488905_17536379 | 17529064 | A | AGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01123.hp2 HG02074.hp2 others(8): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0002others(2): Show | a0001c0002t0001g0320 a0001c0002t0001g0323 a0001c0003t0001g0042 others(8): Show |
11 | 396 | 0.0278 | 12 | c.377 others(29): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 1/7 | chr20 | TogoVar | |||||||
BFSP1_chr20_17488905_17536379 | 17529090 | T | TGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02896.hp1 others(4): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0005others(1): Show | a0001c0002t0001a0001c0003t0001a0001c0005t0004others(1): Show | a0001c0002t0001g0313 a0001c0003t0001g0312 a0001c0005t0004g0310 others(3): Show |
7 | 396 | 0.0177 | 12 | c.377 others(29): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 1/7 | chr20 | TogoVar | |||||||
BFSP2_chr3_133395056_133480208 | 133409227 | G | GGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0033 | 1 | 276 | 0.0036 | 12 | c.489 others(29): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133415274 | A | ACCCTTGC others(5): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0119 | 1 | 276 | 0.0036 | 12 | c.489 others(31): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133425762 | G | GACGGGAA others(5): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0167 | 1 | 276 | 0.0036 | 12 | c.490 others(31): 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(5): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 276 | 0.0036 | 12 | c.490 others(27): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133449982 | A | AAAGGAAG others(5): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00597.hp1 others(32): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(3): Show | a0001c0001t0001g0113 a0001c0001t0001g0152 a0001c0001t0001g0169 others(31): Show |
35 | 276 | 0.1268 | 12 | c.730 others(27): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133450016 | A | AGGAAGGA others(5): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02886.hp1 HG02970.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0032 a0001c0001t0001g0161 others(2): Show |
5 | 276 | 0.0181 | 12 | c.730 others(27): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133466677 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0010 |
2 | 276 | 0.0073 | 12 | c.892 others(27): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BGN_chrX_153489980_153514546 | 153509061 | C | CTGTGTGT others(5): Show |
3_prime_UTR_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0002 | a0001c0002t0028 | a0001c0002t0028g0119 | 1 | 321 | 0.0031 | 12 | c.*65 others(21): Show |
BGN | ENSG00000182492.16 | transcript | ENST00000331595.9 | protein_coding | 8/8 | 662 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BHLHE22_chr8_64575365_64588627 | 64581463 | G | GGCAGCAG others(5): Show |
disruptive_inframe_insertion | MODERATE | HG02818.hp1 | a0017 | a0017c0021 | a0017c0021t0012 | a0017c0021t0012g0000 | 1 | 432 | 0.0023 | 12 | c.692 others(19): Show |
p.Ser others(13): Show |
BHLHE22 | ENSG00000180828.3 | transcript | ENST00000321870.3 | protein_coding | 1/1 | 1130/3263 | 704/1146 | 235/381 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||
BHLHE40_chr3_4974437_4990323 | 4983829 | G | GGTGTGTG others(5): Show |
3_prime_UTR_variant | MODIFIER | HG02630.hp1 HG02717.hp1 HG02922.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0013a0001c0003t0013a0001c0003t0037others(1): Show | a0001c0001t0013g0009 a0001c0001t0013g0035 a0001c0003t0013g0009 others(2): Show |
6 | 436 | 0.0138 | 12 | c.*15 others(21): 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(5): Show |
3_prime_UTR_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0002 | a0001c0002t0041 | a0001c0002t0041g0030 | 1 | 436 | 0.0023 | 12 | c.*16 others(21): Show |
BHLHE40 | ENSG00000134107.5 | transcript | ENST00000256495.4 | protein_coding | 5/5 | 164 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BHLHE40_chr3_4974437_4990323 | 4988355 | T | TGCGGGGG others(5): Show |
downstream_gene_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 436 | 0.0023 | 12 | c.*46 others(23): Show |
BHLHE40 | ENSG00000134107.5 | transcript | ENST00000256495.4 | protein_coding | 3033 | chr3 | TogoVar | |||||||
BHLHE41_chr12_26115030_26130037 | 26122638 | G | GGCCGCCG others(5): Show |
conservative_inframe_insertion | MODERATE | HG01978.hp1 HG01978.hp2 |
a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0016 | 2 | 422 | 0.0047 | 12 | c.865 others(19): Show |
p.Gly others(25): Show |
BHLHE41 | ENSG00000123095.6 | transcript | ENST00000242728.5 | protein_coding | 5/5 | 1134/3743 | 876/1449 | 292/482 | chr12 | TogoVar |