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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BICD1_chr12_32101847_32388633 | 32171940 | TACACAC | T | intron_variant | MODIFIER | HG01167.hp1 HG02257.hp1 HG02486.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0007a0001c0001t0015a0001c0001t0017others(6): Show | a0001c0001t0007g0026 a0001c0001t0015g0042 a0001c0001t0017g0093 others(7): Show |
10 | 69 | 0.1449 | -6 | c.214 others(25): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32238944 | CAAAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG01884.hp1 HG02896.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0004a0001c0001t0009a0001c0001t0017others(4): Show | a0001c0001t0004g0019 a0001c0001t0004g0151 a0001c0001t0009g0073 others(5): Show |
8 | 142 | 0.0563 | -6 | c.426 others(25): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32282202 | CTTTTTT | C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02630.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0061 | a0001c0001t0006g0150 a0001c0001t0006g0153 a0001c0001t0006g0157 others(3): Show |
6 | 67 | 0.0896 | -6 | c.427 others(25): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32283144 | TAGGAAG | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(170): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0038 a0001c0001t0001g0058 a0001c0001t0001g0190 others(170): Show |
173 | 288 | 0.6007 | -6 | c.427 others(25): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32288223 | ATTTTTT | A | intron_variant | MODIFIER | HG00408.hp1 HG01891.hp2 HG02055.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0014others(5): Show | a0001c0001t0001g0182 a0001c0001t0009g0073 a0001c0001t0014g0029 others(8): Show |
11 | 149 | 0.0738 | -6 | c.427 others(23): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32296250 | TTTTTTG | T | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp2 HG01081.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0038 a0001c0001t0001g0058 a0001c0001t0001g0190 others(31): Show |
34 | 288 | 0.1181 | -6 | c.579 others(23): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32324566 | CTTTTCT | C | intron_variant | MODIFIER | HG01346.hp1 HG02109.hp1 HG02145.hp1 others(21): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(16): Show | a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0004g0287 others(21): Show |
24 | 83 | 0.2892 | -6 | c.100 others(25): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32342204 | GTATATA | G | intron_variant | MODIFIER | HG01175.hp2 HG02109.hp1 HG02622.hp1 others(7): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0014a0001c0001t0015a0001c0001t0018others(4): Show | a0001c0001t0014g0029 a0001c0001t0014g0031 a0001c0001t0015g0020 others(7): Show |
10 | 83 | 0.1205 | -6 | c.276 others(25): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32346159 | TAAAAAG | T | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00741.hp2 others(25): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0006a0001c0001t0009a0001c0001t0017others(3): Show | a0001c0001t0006g0021 a0001c0001t0006g0027 a0001c0001t0006g0034 others(25): Show |
28 | 288 | 0.0972 | -6 | c.276 others(25): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32346536 | GTATATA | G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01358.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0009a0001c0002t0002others(3): Show | a0001c0001t0006g0150 a0001c0001t0006g0153 a0001c0001t0006g0158 others(13): Show |
16 | 213 | 0.0751 | -6 | c.276 others(25): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32348723 | AATATAT | A | intron_variant | MODIFIER | HG01109.hp2 HG01192.hp1 HG02129.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0089 a0001c0001t0001g0263 a0001c0001t0003g0177 others(4): Show |
7 | 12 | 0.5833 | -6 | c.276 others(25): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32363997 | TCATCAC | T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(187): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(57): Show | a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0281 others(187): Show |
190 | 274 | 0.6934 | -6 | c.276 others(25): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32382310 | TAAGAAG | T | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp2 others(59): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0020a0001c0002t0002others(10): Show | a0001c0001t0002g0205 a0001c0001t0020g0230 a0001c0002t0002g0043 others(59): Show |
62 | 288 | 0.2153 | -6 | c.*46 others(17): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 10/10 | 4691 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD2_chr9_92706363_92769833 | 92751134 | TTTGTTG | T | intron_variant | MODIFIER | HG00597.hp1 NA18940.hp1 NA18942.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0035a0001c0002t0003others(2): Show | a0001c0001t0003g0006 a0001c0001t0003g0023 a0001c0001t0003g0024 others(23): Show |
34 | 347 | 0.0980 | -6 | c.240 others(25): Show |
BICD2 | ENSG00000185963.14 | transcript | ENST00000356884.11 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
BICD2_chr9_92706363_92769833 | 92757312 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(123): Show |
a0001a0005a0008 | a0001c0001a0001c0009a0005c0011others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(22): Show | a0001c0001t0002g0004 a0001c0001t0002g0012 a0001c0001t0002g0013 others(100): Show |
126 | 240 | 0.5250 | -6 | c.240 others(23): Show |
BICD2 | ENSG00000185963.14 | transcript | ENST00000356884.11 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
BICDL1_chr12_119984236_120099494 | 119996681 | TACACAC | T | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00558.hp1 others(92): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(7): Show | a0001c0001t0002g0004 a0001c0001t0002g0132 a0001c0001t0002g0133 others(90): Show |
95 | 209 | 0.4545 | -6 | c.430 others(23): Show |
BICDL1 | ENSG00000135127.12 | transcript | ENST00000548673.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICDL1_chr12_119984236_120099494 | 120013439 | AGTGTGT | A | intron_variant | MODIFIER | HG00642.hp2 HG01168.hp1 HG01243.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0004others(1): Show | a0001c0001t0001g0024 a0001c0001t0001g0121 a0001c0001t0003g0277 others(18): Show |
21 | 64 | 0.3281 | -6 | c.645 others(25): Show |
BICDL1 | ENSG00000135127.12 | transcript | ENST00000548673.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICDL1_chr12_119984236_120099494 | 120036008 | ATTTATG | A | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG01243.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0016 | a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0257 others(14): Show |
17 | 294 | 0.0578 | -6 | c.646 others(25): Show |
BICDL1 | ENSG00000135127.12 | transcript | ENST00000548673.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICDL1_chr12_119984236_120099494 | 120081141 | ACCCACC | A | intron_variant | MODIFIER | HG03130.hp1 HG03516.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0024 |
3 | 290 | 0.0103 | -6 | c.158 others(23): Show |
BICDL1 | ENSG00000135127.12 | transcript | ENST00000548673.6 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42779223 | AACACAC | A | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00544.hp2 others(70): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0038 a0001c0001t0001g0071 a0001c0001t0001g0075 others(70): Show |
73 | 122 | 0.5984 | -6 | c.-29 others(17): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 2828 | chr6 | TogoVar | |||||||
BICRAL_chr6_42777052_42873556 | 42779269 | CACACAT | C | upstream_gene_variant | MODIFIER | HG00609.hp2 NA19005.hp1 NA19056.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 a0001c0001t0001g0212 a0001c0001t0001g0214 others(1): Show |
4 | 268 | 0.0149 | -6 | c.-29 others(17): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 2782 | chr6 | TogoVar | |||||||
BICRAL_chr6_42777052_42873556 | 42793122 | ATTTTTT | A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00597.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0050 a0001c0001t0001g0051 others(20): Show |
23 | 49 | 0.4694 | -6 | c.-10 others(27): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42793969 | CATTTTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00438.hp2 others(157): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0014 others(157): Show |
160 | 262 | 0.6107 | -6 | c.-10 others(27): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42794411 | CTGTGTG | C | intron_variant | MODIFIER | HG01074.hp1 HG01074.hp2 HG01168.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0025 others(15): Show |
18 | 66 | 0.2727 | -6 | c.-10 others(27): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42844508 | CAAAAAA | C | intron_variant | MODIFIER | HG02257.hp1 HG02886.hp1 HG03225.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0038 a0001c0001t0001g0230 a0001c0001t0002g0066 others(3): Show |
6 | 48 | 0.1250 | -6 | c.184 others(25): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42845195 | GTTTTTT | G | intron_variant | MODIFIER | HG02040.hp1 HG02622.hp1 HG02647.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0139 a0001c0001t0001g0150 a0001c0001t0001g0181 others(10): Show |
13 | 19 | 0.6842 | -6 | c.184 others(25): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42857600 | TAAAAAA | T | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01074.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0156 a0001c0001t0002g0005 a0001c0001t0002g0043 others(17): Show |
20 | 254 | 0.0787 | -6 | c.225 others(23): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42857610 | AAAAAAT | A | intron_variant | MODIFIER | HG02559.hp2 HG02572.hp2 HG02698.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0135 a0001c0001t0002g0004 a0001c0001t0002g0087 others(7): Show |
10 | 266 | 0.0376 | -6 | c.225 others(23): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47655860 | AAAAAAT | A | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00639.hp1 others(49): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0006others(14): Show | a0001c0001t0001g0087 a0001c0001t0001g0114 a0001c0001t0001g0183 others(49): Show |
52 | 310 | 0.1677 | -6 | c.-10 others(27): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47656069 | GACACAC | G | intron_variant | MODIFIER | HG01070.hp2 HG02809.hp1 HG03041.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0004 | a0001c0001t0001g0046 a0001c0001t0001g0047 a0003c0004t0004g0092 |
3 | 92 | 0.0326 | -6 | c.-10 others(27): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47659685 | TACACAC | T | intron_variant | MODIFIER | HG00438.hp2 HG00642.hp1 HG01243.hp1 others(10): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0018 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(2): Show | a0001c0001t0001g0197 a0001c0001t0001g0222 a0001c0001t0001g0265 others(10): Show |
13 | 138 | 0.0942 | -6 | c.-10 others(27): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47685741 | CTGTGTG | C | intron_variant | MODIFIER | HG02559.hp1 HG03453.hp1 HG03710.hp1 |
a0001a0002 | a0001c0003a0002c0002a0002c0005 | a0001c0003t0006a0002c0002t0002a0002c0005t0002 | a0001c0003t0006g0105 a0002c0002t0002g0259 a0002c0005t0002g0299 |
3 | 233 | 0.0129 | -6 | c.228 others(25): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47690792 | TTGTGTG | T | intron_variant | MODIFIER | HG02145.hp2 HG03041.hp1 HG03453.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0010 a0001c0003t0004g0011 a0001c0003t0004g0012 others(1): Show |
4 | 73 | 0.0548 | -6 | c.228 others(25): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47705167 | CTTTCTT | C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00544.hp1 others(185): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0001c0006others(25): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(32): Show | a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0022 others(185): Show |
188 | 310 | 0.6065 | -6 | c.*27 others(17): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1891 | chr19 | TogoVar | |||||||
BIN1_chr2_127043032_127112154 | 127044177 | CTTCACA | C | downstream_gene_variant | MODIFIER | HG02717.hp1 HG03041.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0250 |
3 | 342 | 0.0088 | -6 | c.*43 others(17): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 3854 | chr2 | TogoVar | |||||||
BIN1_chr2_127043032_127112154 | 127044220 | TTCACAC | T | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG00621.hp2 others(48): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0009others(3): Show | a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0041 others(47): Show |
51 | 341 | 0.1496 | -6 | c.*43 others(17): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 3811 | chr2 | TogoVar | |||||||
BIN1_chr2_127043032_127112154 | 127105467 | CCCTCCT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(119): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(10): Show | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0023 others(113): Show |
122 | 249 | 0.4900 | -6 | c.84+ others(21): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 1/18 | chr2 | TogoVar | |||||||
BIN1_chr2_127043032_127112154 | 127111221 | CTTCTTT | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(106): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(15): Show | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0050 others(101): Show |
109 | 342 | 0.3187 | -6 | c.-42 others(17): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 4068 | chr2 | TogoVar | |||||||
BIN2_chr12_51276038_51329174 | 51295392 | CAAAAAA | C | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp2 HG00741.hp2 others(29): Show |
a0001a0003a0006 | a0001c0001a0001c0004a0003c0003others(1): Show | a0001c0001t0001a0001c0004t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0308 a0001c0004t0001g0005 a0001c0004t0001g0028 others(23): Show |
32 | 189 | 0.1693 | -6 | c.761 others(21): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 9/12 | chr12 | TogoVar | |||||||
BIN2_chr12_51276038_51329174 | 51295577 | AATATAT | A | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG02056.hp1 others(15): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0001 | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0029 others(13): Show |
18 | 225 | 0.0800 | -6 | c.761 others(21): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 9/12 | chr12 | TogoVar | |||||||
BIN3_chr8_22615418_22674121 | 22616892 | TTTTTGG | T | downstream_gene_variant | MODIFIER | HG01099.hp2 HG02572.hp1 HG02976.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0010a0001c0001t0014others(1): Show | a0001c0001t0007g0312 a0001c0001t0007g0313 a0001c0001t0007g0314 others(6): Show |
9 | 384 | 0.0234 | -6 | c.*45 others(17): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 3525 | chr8 | TogoVar | |||||||
BIN3_chr8_22615418_22674121 | 22649853 | ACACACC | A | intron_variant | MODIFIER | HG00639.hp1 HG01175.hp1 HG02818.hp2 others(6): Show |
a0001a0005 | a0001c0001a0001c0009a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0002g0037 others(6): Show |
9 | 384 | 0.0234 | -6 | c.9-5 others(19): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
BIN3_chr8_22615418_22674121 | 22658838 | CGGTGGT | C | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp2 HG00735.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0004a0001c0001t0007a0001c0001t0013others(6): Show | a0001c0001t0004g0214 a0001c0001t0004g0281 a0001c0001t0004g0283 others(9): Show |
13 | 384 | 0.0339 | -6 | c.8+1 others(21): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
BIN3_chr8_22615418_22674121 | 22663440 | TAAAAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp2 others(88): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0015 a0001c0001t0001g0142 a0001c0001t0001g0146 others(77): Show |
91 | 194 | 0.4691 | -6 | c.8+5 others(19): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
BIRC2_chr11_102342214_102383670 | 102351614 | CAAAAAA | C | intron_variant | MODIFIER | HG00609.hp1 HG00735.hp2 HG01993.hp1 others(13): Show |
a0001a0004 | a0001c0001a0001c0010a0004c0005 | a0001c0001t0001a0001c0010t0001a0004c0005t0001 | a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0037 others(8): Show |
16 | 46 | 0.3478 | -6 | c.995 others(21): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BIRC2_chr11_102342214_102383670 | 102360817 | TGGGTGA | T | intron_variant | MODIFIER | HG01109.hp1 HG01255.hp1 HG02698.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 others(2): Show |
5 | 342 | 0.0146 | -6 | c.996 others(23): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BIRC2_chr11_102342214_102383670 | 102364186 | CAGAGAG | C | intron_variant | MODIFIER | HG00323.hp2 HG02572.hp1 HG02738.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0068 a0001c0001t0001g0128 a0001c0001t0001g0133 others(3): Show |
6 | 305 | 0.0197 | -6 | c.112 others(23): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32369980 | ATATATG | A | intron_variant | MODIFIER | HG02040.hp1 HG02273.hp1 NA18947.hp2 others(1): Show |
a0002 | a0002c0002a0002c0004a0002c0016others(1): Show | a0002c0002t0001a0002c0004t0001a0002c0016t0001others(1): Show | a0002c0002t0001g0075 a0002c0004t0001g0169 a0002c0016t0001g0078 others(1): Show |
4 | 272 | 0.0147 | -6 | c.326 others(23): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 1/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32397574 | CTGTGTG | C | intron_variant | MODIFIER | HG02818.hp2 HG03098.hp1 HG03139.hp2 others(2): Show |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0026 a0001c0009t0001g0027 a0001c0009t0001g0028 others(2): Show |
5 | 109 | 0.0459 | -6 | c.103 others(25): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 6/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32416773 | TCCTTTC | T | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG02280.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0190 a0001c0001t0001g0196 others(2): Show |
5 | 272 | 0.0184 | -6 | c.287 others(23): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 10/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |