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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BTBD9_chr6_38163451_38644929 | 38374309 | A | ATGTATAT others(5): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02976.hp1 HG03139.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0038a0001c0001t0168others(2): Show | a0001c0001t0023g0208 a0001c0001t0038g0187 a0001c0001t0168g0127 others(2): Show |
5 | 224 | 0.0223 | 12 | c.115 others(33): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
BTBD9_chr6_38163451_38644929 | 38375891 | A | AAAAGAAA others(5): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01106.hp2 HG01167.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0011a0001c0001t0014others(15): Show | a0001c0001t0007g0024 a0001c0001t0011g0022 a0001c0001t0014g0030 others(15): Show |
18 | 224 | 0.0804 | 12 | c.115 others(33): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
BTBD9_chr6_38163451_38644929 | 38435617 | T | TCCCTCCC others(5): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0082 | 1 | 224 | 0.0045 | 12 | c.115 others(33): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
BTBD9_chr6_38163451_38644929 | 38438200 | A | AAAGGAGG others(5): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0176 | a0001c0001t0176g0138 | 1 | 224 | 0.0045 | 12 | c.115 others(33): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
BTBD9_chr6_38163451_38644929 | 38438254 | G | GGAAGGAA others(5): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02055.hp1 HG02258.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0013a0001c0001t0030others(4): Show | a0001c0001t0007g0018 a0001c0001t0013g0081 a0001c0001t0030g0040 others(4): Show |
7 | 224 | 0.0313 | 12 | c.115 others(33): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
BTBD9_chr6_38163451_38644929 | 38487592 | C | CGAGAGAG others(5): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG03017.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0024a0001c0001t0171 | a0001c0001t0009g0044 a0001c0001t0024g0086 a0001c0001t0171g0188 |
3 | 224 | 0.0134 | 12 | c.115 others(33): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
BTBD9_chr6_38163451_38644929 | 38505964 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03195.hp1 NA18956.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0043a0001c0001t0156 | a0001c0001t0004g0125 a0001c0001t0043g0045 a0001c0001t0156g0172 |
3 | 224 | 0.0134 | 12 | c.115 others(33): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
BTBD9_chr6_38163451_38644929 | 38545855 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0160 | 1 | 224 | 0.0045 | 12 | c.115 others(33): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
BTBD9_chr6_38163451_38644929 | 38557015 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0082 | a0001c0001t0082g0137 | 1 | 224 | 0.0045 | 12 | c.115 others(33): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | |||||||
BTBD9_chr6_38163451_38644929 | 38585938 | C | CCACACAC others(5): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0168 | a0001c0001t0168g0127 | 1 | 224 | 0.0045 | 12 | c.815 others(29): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 4/10 | chr6 | TogoVar | |||||||
BTC_chr4_74739759_74799523 | 74749483 | A | AAAATAAA others(5): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0127 | 1 | 360 | 0.0028 | 12 | c.428 others(29): Show |
BTC | ENSG00000174808.12 | transcript | ENST00000395743.8 | protein_coding | 4/5 | chr4 | TogoVar | |||||||
BTC_chr4_74739759_74799523 | 74754938 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0036 | 1 | 360 | 0.0028 | 12 | c.281 others(27): Show |
BTC | ENSG00000174808.12 | transcript | ENST00000395743.8 | protein_coding | 3/5 | chr4 | TogoVar | |||||||
BTC_chr4_74739759_74799523 | 74781396 | T | TGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00738.hp1 others(61): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(10): Show | a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0002g0189 others(55): Show |
64 | 360 | 0.1778 | 12 | c.65- others(29): Show |
BTC | ENSG00000174808.12 | transcript | ENST00000395743.8 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
BTF3L4_chr1_52051295_52095716 | 52073493 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02698.hp1 HG02895.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0098 a0001c0001t0002g0259 a0001c0001t0002g0261 others(2): Show |
5 | 276 | 0.0181 | 12 | c.168 others(29): Show |
BTF3L4 | ENSG00000134717.18 | transcript | ENST00000313334.13 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BTG3_chr21_17588653_17617901 | 17612483 | C | CCGCGGAA others(5): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02630.hp2 HG02723.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0050 a0001c0001t0001g0051 others(2): Show |
9 | 402 | 0.0224 | 12 | c.-9+ others(25): Show |
BTG3 | ENSG00000154640.15 | transcript | ENST00000348354.7 | protein_coding | 1/4 | chr21 | TogoVar | |||||||
BTK_chrX_101344450_101391191 | 101378528 | G | GACACACA others(5): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 | 1 | 303 | 0.0033 | 12 | c.-30 others(29): Show |
BTK | ENSG00000010671.18 | transcript | ENST00000308731.8 | protein_coding | 1/18 | chrX | TogoVar | |||||||
BTK_chrX_101344450_101391191 | 101382311 | T | TTTTATTT others(5): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02109.hp2 HG02735.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0232 a0001c0001t0001g0237 a0001c0001t0001g0238 others(2): Show |
5 | 303 | 0.0165 | 12 | c.-31 others(29): Show |
BTK | ENSG00000010671.18 | transcript | ENST00000308731.8 | protein_coding | 1/18 | chrX | TogoVar | |||||||
BTLA_chr3_112458966_112504472 | 112469607 | G | GTATATAT others(5): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01891.hp1 HG02165.hp2 others(6): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0003a0002c0002t0008a0002c0002t0015others(4): Show | a0002c0002t0003g0203 a0002c0002t0003g0251 a0002c0002t0008g0216 others(6): Show |
9 | 344 | 0.0262 | 12 | c.594 others(27): Show |
BTLA | ENSG00000186265.10 | transcript | ENST00000334529.10 | protein_coding | 4/4 | chr3 | TogoVar | |||||||
BTN2A1_chr6_26452955_26474637 | 26471663 | A | AAAGGAAG others(5): Show |
downstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0047 | 1 | 420 | 0.0024 | 12 | c.*31 others(23): Show |
BTN2A1 | ENSG00000112763.17 | transcript | ENST00000312541.10 | protein_coding | 2027 | chr6 | TogoVar | |||||||
BTN2A2_chr6_26378108_26399874 | 26382622 | G | GGAAAGAA others(5): Show |
upstream_gene_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 390 | 0.0026 | 12 | c.-59 others(21): Show |
BTN2A2 | ENSG00000124508.17 | transcript | ENST00000356709.9 | protein_coding | 485 | chr6 | TogoVar | |||||||
BTN3A1_chr6_26397275_26420208 | 26411000 | T | TAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01175.hp1 HG03654.hp2 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0018 | 4 | 394 | 0.0102 | 12 | c.965 others(25): Show |
BTN3A1 | ENSG00000026950.17 | transcript | ENST00000289361.11 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BTN3A2_chr6_26360198_26383312 | 26382622 | G | GGAAAGAA others(5): Show |
downstream_gene_variant | MODIFIER | NA18994.hp2 | a0005 | a0005c0006 | a0005c0006t0003 | a0005c0006t0003g0029 | 1 | 382 | 0.0026 | 12 | c.*68 others(23): Show |
BTN3A2 | ENSG00000186470.14 | transcript | ENST00000377708.7 | protein_coding | 4311 | chr6 | TogoVar | |||||||
BTNL2_chr6_32388339_32412181 | 32400745 | T | TAAAAATA others(5): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01167.hp1 HG01981.hp2 others(19): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011 a0002c0002t0001g0022 a0002c0002t0001g0031 others(7): Show |
22 | 453 | 0.0486 | 12 | c.730 others(29): Show |
BTNL2 | ENSG00000204290.11 | transcript | ENST00000454136.8 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
BTNL2_chr6_32388339_32412181 | 32400745 | T | TAAAATAC others(5): Show |
intron_variant | MODIFIER | NA18997.hp2 | a0016 | a0016c0022 | a0016c0022t0001 | a0016c0022t0001g0088 | 1 | 453 | 0.0022 | 12 | c.730 others(29): Show |
BTNL2 | ENSG00000204290.11 | transcript | ENST00000454136.8 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
BTNL2_chr6_32388339_32412181 | 32401207 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG00621.hp1 others(6): Show |
a0001a0005 | a0001c0001a0001c0005a0001c0010others(1): Show | a0001c0001t0001a0001c0005t0001a0001c0010t0001others(1): Show | a0001c0001t0001g0118 a0001c0005t0001g0053 a0001c0010t0001g0035 others(2): Show |
9 | 453 | 0.0199 | 12 | c.730 others(27): Show |
BTNL2 | ENSG00000204290.11 | transcript | ENST00000454136.8 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
BTNL3_chr5_180983846_181011727 | 181002471 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | HG01934.hp1 HG01934.hp2 HG01993.hp2 others(4): Show |
a0001a0011 | a0001c0001a0011c0021 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 others(4): Show |
7 | 206 | 0.0340 | 12 | c.674 others(27): Show |
BTNL3 | ENSG00000168903.9 | transcript | ENST00000342868.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BTNL8_chr5_180894159_180955906 | 180941110 | G | GAGGAAGG others(5): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(46): Show |
a0001a0003a0010others(2): Show | a0001c0001a0003c0003a0010c0011others(2): Show | a0001c0001t0001a0003c0003t0001a0010c0011t0001others(2): Show | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(40): Show |
49 | 190 | 0.2579 | 12 | c.674 others(29): Show |
BTNL8 | ENSG00000113303.12 | transcript | ENST00000340184.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BTRC_chr10_101349165_101562313 | 101366766 | T | TTATATAT others(5): Show |
intron_variant | MODIFIER | NA18975.hp2 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0184 a0001c0001t0004g0248 |
2 | 266 | 0.0075 | 12 | c.48+ others(29): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BTRC_chr10_101349165_101562313 | 101366790 | T | TTATATAT others(5): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01433.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0050 |
3 | 266 | 0.0113 | 12 | c.48+ others(29): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BTRC_chr10_101349165_101562313 | 101366862 | A | ATATATAT others(5): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG00642.hp2 others(57): Show |
a0001a0004a0005 | a0001c0001a0004c0006a0005c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0173 a0001c0001t0001g0200 a0001c0001t0003g0164 others(57): Show |
60 | 266 | 0.2256 | 12 | c.48+ others(29): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BTRC_chr10_101349165_101562313 | 101387528 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01346.hp1 HG02015.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0200 a0001c0002t0002g0021 a0001c0002t0002g0022 others(2): Show |
5 | 266 | 0.0188 | 12 | c.48+ others(29): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BTRC_chr10_101349165_101562313 | 101404030 | A | ATATATAT others(5): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0233 | 1 | 266 | 0.0038 | 12 | c.49- others(29): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BTRC_chr10_101349165_101562313 | 101436625 | A | AATAGATA others(5): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 266 | 0.0038 | 12 | c.156 others(29): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BTRC_chr10_101349165_101562313 | 101442262 | A | ATCTCTCT others(5): Show |
intron_variant | MODIFIER | HG02155.hp2 HG03516.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0036 a0001c0001t0002g0054 a0001c0001t0006g0069 |
3 | 266 | 0.0113 | 12 | c.156 others(31): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BTRC_chr10_101349165_101562313 | 101442296 | A | ATGTGTGT others(5): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(77): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0173 a0001c0001t0002g0217 a0001c0001t0002g0218 others(77): Show |
80 | 266 | 0.3008 | 12 | c.156 others(31): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BTRC_chr10_101349165_101562313 | 101455983 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00639.hp2 others(33): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0019 a0001c0001t0001g0093 a0001c0001t0001g0099 others(33): Show |
36 | 266 | 0.1353 | 12 | c.157 others(29): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BTRC_chr10_101349165_101562313 | 101475922 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00639.hp2 HG01069.hp2 others(35): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0114 others(35): Show |
38 | 266 | 0.1429 | 12 | c.235 others(29): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BTRC_chr10_101349165_101562313 | 101508913 | T | TAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00673.hp2 HG01069.hp2 others(30): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(6): Show | a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0090 others(30): Show |
33 | 266 | 0.1241 | 12 | c.325 others(31): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BTRC_chr10_101349165_101562313 | 101522352 | T | TAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02559.hp1 HG03516.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0008 | a0001c0001t0002g0050 a0001c0002t0008g0032 a0001c0002t0008g0033 |
3 | 266 | 0.0113 | 12 | c.556 others(27): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BTRC_chr10_101349165_101562313 | 101522409 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01123.hp2 HG02056.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0007 | a0001c0001t0004g0174 a0001c0001t0004g0221 a0001c0001t0005g0176 others(5): Show |
8 | 266 | 0.0301 | 12 | c.556 others(27): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BTRC_chr10_101349165_101562313 | 101532750 | A | ATGTGTGT others(5): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 266 | 0.0038 | 12 | c.979 others(27): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BTRC_chr10_101349165_101562313 | 101532797 | T | TGCGCGCG others(5): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0221 | 1 | 266 | 0.0038 | 12 | c.979 others(27): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BTRC_chr10_101349165_101562313 | 101549713 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00642.hp1 others(28): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(3): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0093 others(28): Show |
31 | 266 | 0.1165 | 12 | c.165 others(29): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BUB1B_chr15_40156069_40226123 | 40179967 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0155 | 1 | 352 | 0.0028 | 12 | c.581 others(29): Show |
BUB1B | ENSG00000156970.13 | transcript | ENST00000287598.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BUB1_chr2_110632528_110683063 | 110637585 | A | AGTGTGTG others(5): Show |
3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0083 a0001c0001t0009g0095 a0001c0001t0009g0168 |
3 | 182 | 0.0165 | 12 | c.*36 others(21): Show |
BUB1 | ENSG00000169679.15 | transcript | ENST00000302759.11 | protein_coding | 25/25 | 378 | chr2 | TogoVar | ||||||
BUB1_chr2_110632528_110683063 | 110681629 | G | GAGAAAGA others(5): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG01192.hp1 HG01981.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0068 a0001c0001t0002g0090 a0001c0001t0003g0140 others(3): Show |
6 | 182 | 0.0330 | 12 | c.-36 others(23): Show |
BUB1 | ENSG00000169679.15 | transcript | ENST00000302759.11 | protein_coding | 3567 | chr2 | TogoVar | |||||||
BUB1_chr2_110632528_110683063 | 110681629 | G | GAGAGAGA others(5): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0134 | 1 | 182 | 0.0055 | 12 | c.-36 others(23): Show |
BUB1 | ENSG00000169679.15 | transcript | ENST00000302759.11 | protein_coding | 3567 | chr2 | TogoVar | |||||||
BUB3_chr10_123149402_123175467 | 123156753 | G | GTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG02280.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0012a0001c0001t0017others(3): Show | a0001c0001t0004g0007 a0001c0001t0012g0007 a0001c0001t0017g0037 others(3): Show |
11 | 418 | 0.0263 | 12 | c.266 others(27): Show |
BUB3 | ENSG00000154473.18 | transcript | ENST00000368865.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BVES_chr6_105091822_105142157 | 105109763 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0038a0001c0001t0053 | a0001c0001t0038g0184 a0001c0001t0053g0056 |
2 | 232 | 0.0086 | 12 | c.958 others(29): Show |
BVES | ENSG00000112276.14 | transcript | ENST00000314641.10 | protein_coding | 7/7 | chr6 | TogoVar | |||||||
BVES_chr6_105091822_105142157 | 105138332 | A | AATGATGA others(5): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 NA18954.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0067a0001c0001t0082 | a0001c0001t0008g0076 a0001c0001t0067g0102 a0001c0001t0082g0169 |
3 | 232 | 0.0129 | 12 | c.-13 others(23): Show |
BVES | ENSG00000112276.14 | transcript | ENST00000314641.10 | protein_coding | 1176 | chr6 | TogoVar |