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 | 32198323 | C | CATATAT | intron_variant | MODIFIER | HG00408.hp2 HG02723.hp1 HG02818.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0034a0001c0001t0038a0001c0001t0057others(2): Show | a0001c0001t0034g0128 a0001c0001t0038g0098 a0001c0001t0057g0245 others(4): Show |
7 | 290 | 0.0241 | 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 | 32198326 | C | CTATATA | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01192.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(1): Show | a0001c0001t0004g0287 a0001c0001t0006g0034 a0001c0001t0006g0035 others(11): Show |
14 | 290 | 0.0483 | 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 | 32198330 | C | CTATATA | intron_variant | MODIFIER | HG01175.hp2 HG02922.hp1 HG04184.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0018a0001c0001t0022a0001c0002t0046others(1): Show | a0001c0001t0018g0268 a0001c0001t0022g0101 a0001c0002t0046g0262 others(1): Show |
4 | 290 | 0.0138 | 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 | 32198330 | C | CTATCTA | intron_variant | MODIFIER | HG02257.hp2 HG06807.hp2 NA19240.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0009a0001c0007t0050 | a0001c0001t0001g0255 a0001c0001t0009g0288 a0001c0007t0050g0186 |
3 | 290 | 0.0103 | 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 | 32243264 | A | ATTTTTT | intron_variant | MODIFIER | HG01169.hp2 HG01884.hp1 HG02040.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0004a0001c0001t0006a0001c0001t0032others(6): Show | a0001c0001t0004g0019 a0001c0001t0004g0166 a0001c0001t0006g0036 others(13): Show |
16 | 290 | 0.0552 | 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 | 32257211 | C | CAAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG02015.hp1 HG02040.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0007g0146 a0001c0002t0001g0178 a0001c0002t0002g0075 others(11): Show |
14 | 290 | 0.0483 | 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 | 32324566 | C | CTTTTCT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(200): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0059 others(200): Show |
203 | 290 | 0.7000 | 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 | G | GTATATA | intron_variant | MODIFIER | HG01106.hp2 HG01167.hp1 HG02280.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0032 a0001c0001t0004g0130 a0001c0001t0007g0026 others(1): Show |
4 | 290 | 0.0138 | 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 | 32346616 | G | GTATATA | intron_variant | MODIFIER | HG01069.hp1 HG01243.hp2 HG01496.hp2 others(5): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0059 a0001c0001t0001g0208 a0001c0001t0003g0198 others(5): Show |
8 | 290 | 0.0276 | 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 | 32346657 | T | TATATAC | intron_variant | MODIFIER | HG01192.hp1 HG01261.hp2 HG01517.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0024others(2): Show | a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0264 others(8): Show |
11 | 290 | 0.0379 | 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 | A | AATATAT | intron_variant | MODIFIER | HG00438.hp1 HG01884.hp1 NA18951.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0001a0001c0002t0004 | a0001c0001t0004g0019 a0001c0002t0001g0077 a0001c0002t0001g0224 others(1): Show |
4 | 290 | 0.0138 | 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 | 32384588 | G | GTCTTCT | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01169.hp1 HG02080.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(2): Show | a0001c0001t0001g0049 a0001c0001t0001g0089 a0001c0001t0001g0276 others(6): Show |
9 | 290 | 0.0310 | 6 | c.*69 others(17): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 956 | chr12 | TogoVar | |||||||
BICD2_chr9_92706363_92769833 | 92764801 | A | AGCCGCC | 5_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00609.hp2 others(57): Show |
a0001a0005a0012 | a0001c0001a0005c0013a0012c0016 | a0001c0001t0002a0001c0001t0009a0001c0001t0027others(7): Show | a0001c0001t0002g0005 a0001c0001t0002g0028 a0001c0001t0002g0029 others(49): Show |
60 | 360 | 0.1667 | 6 | c.-63 others(13): Show |
BICD2 | ENSG00000185963.14 | transcript | ENST00000356884.11 | protein_coding | 1/7 | 58 | chr9 | TogoVar | ||||||
BICDL1_chr12_119984236_120099494 | 119989462 | G | GGCAGCA | 5_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00544.hp1 others(181): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(21): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(179): Show |
184 | 296 | 0.6216 | 6 | c.-39 others(15): Show |
BICDL1 | ENSG00000135127.12 | transcript | ENST00000548673.6 | protein_coding | 1/10 | 389 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICDL1_chr12_119984236_120099494 | 119989474 | A | AGCAGCG | 5_prime_UTR_variant | MODIFIER | HG00423.hp2 HG02717.hp1 NA18953.hp1 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0029 | a0001c0001t0016g0023 a0001c0001t0016g0051 a0001c0001t0029g0284 |
3 | 296 | 0.0101 | 6 | c.-38 others(15): Show |
BICDL1 | ENSG00000135127.12 | transcript | ENST00000548673.6 | protein_coding | 1/10 | 379 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICDL1_chr12_119984236_120099494 | 119999062 | G | GAAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG01106.hp1 HG01978.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0140 others(7): Show |
10 | 296 | 0.0338 | 6 | c.645 others(21): Show |
BICDL1 | ENSG00000135127.12 | transcript | ENST00000548673.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICDL1_chr12_119984236_120099494 | 120013439 | A | AGTGTGT | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG02165.hp2 others(23): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0166 others(23): Show |
26 | 296 | 0.0878 | 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 | 120040751 | C | CTTTTTT | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG01884.hp2 others(18): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0287 a0001c0001t0003g0130 a0001c0001t0003g0260 others(18): Show |
21 | 296 | 0.0710 | 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 | 120045917 | T | TATAATA | intron_variant | MODIFIER | HG02145.hp1 HG02280.hp2 HG02572.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0015others(5): Show | a0001c0001t0001g0287 a0001c0001t0009g0216 a0001c0001t0015g0213 others(9): Show |
12 | 296 | 0.0405 | 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 | A | ACCCACC | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01071.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 a0001c0001t0002g0142 a0001c0001t0002g0162 |
4 | 296 | 0.0135 | 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 | A | AACACAC | upstream_gene_variant | MODIFIER | HG00642.hp2 HG01361.hp1 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0032 a0001c0001t0001g0229 a0001c0001t0002g0213 |
3 | 270 | 0.0111 | 6 | c.-29 others(17): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 2828 | chr6 | TogoVar | |||||||
BICRAL_chr6_42777052_42873556 | 42780747 | G | GTTTTGT | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00438.hp2 others(116): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(116): Show |
119 | 270 | 0.4407 | 6 | c.-14 others(17): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 1304 | chr6 | TogoVar | |||||||
BICRAL_chr6_42777052_42873556 | 42781596 | G | GGTGTGT | upstream_gene_variant | MODIFIER | HG00438.hp2 HG01081.hp2 HG02040.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0021 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0123 others(7): Show |
10 | 270 | 0.0370 | 6 | c.-60 others(15): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 455 | chr6 | TogoVar | |||||||
BICRAL_chr6_42777052_42873556 | 42782006 | T | TCGCGCC | upstream_gene_variant | MODIFIER | NA18950.hp2 NA18982.hp2 NA18984.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 others(2): Show |
5 | 270 | 0.0185 | 6 | c.-19 others(15): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 45 | chr6 | TogoVar | |||||||
BICRAL_chr6_42777052_42873556 | 42782025 | C | CCCGCCG | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02280.hp1 NA18948.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0012a0003c0004t0001others(1): Show | a0001c0001t0001g0080 a0001c0001t0012g0062 a0001c0001t0012g0063 others(2): Show |
5 | 270 | 0.0185 | 6 | c.-17 others(15): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 26 | chr6 | TogoVar | |||||||
BICRAL_chr6_42777052_42873556 | 42783135 | T | TTCCCGC | intron_variant | MODIFIER | HG01255.hp1 HG01361.hp1 HG02055.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(19): Show |
22 | 270 | 0.0815 | 6 | c.-10 others(25): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42793122 | A | ATTTTTT | intron_variant | MODIFIER | HG00544.hp2 HG02074.hp2 HG02080.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0025 a0001c0001t0001g0070 a0001c0001t0001g0108 others(2): Show |
5 | 270 | 0.0185 | 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 | 42793296 | A | ATTTTTT | intron_variant | MODIFIER | HG00741.hp2 HG02015.hp1 HG02109.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0001g0012 a0001c0001t0001g0044 a0001c0001t0004g0133 others(7): Show |
10 | 270 | 0.0370 | 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 | C | CTGTGTG | intron_variant | MODIFIER | HG00423.hp2 HG02293.hp1 HG02293.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0088 a0001c0001t0001g0216 a0001c0001t0001g0244 others(1): Show |
4 | 270 | 0.0148 | 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 | 42814479 | A | ATGTGTG | intron_variant | MODIFIER | HG02109.hp1 HG02897.hp2 HG02970.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0125 a0001c0001t0002g0126 a0001c0001t0004g0127 others(3): Show |
6 | 270 | 0.0222 | 6 | c.-6+ others(21): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47619201 | C | CATATAT | intron_variant | MODIFIER | HG01261.hp1 HG01884.hp1 HG03579.hp1 |
a0001a0002a0016 | a0001c0002a0002c0054a0016c0065 | a0001c0002t0006a0002c0054t0002a0016c0065t0009 | a0001c0002t0006g0100 a0002c0054t0002g0062 a0016c0065t0009g0099 |
3 | 312 | 0.0096 | 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 | 47638613 | T | TCACACA | intron_variant | MODIFIER | HG01074.hp1 HG03195.hp1 HG03486.hp2 |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0002t0004a0003c0004t0004 | a0001c0001t0001g0229 a0001c0002t0004g0008 a0003c0004t0004g0085 |
3 | 312 | 0.0096 | 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 | G | GACACAC | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00673.hp1 others(38): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0003others(14): Show | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0059 others(38): Show |
41 | 312 | 0.1314 | 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 | T | TACACAC | intron_variant | MODIFIER | HG02735.hp2 NA18522.hp1 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 a0001c0001t0001g0083 a0001c0001t0001g0194 |
3 | 312 | 0.0096 | 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 | 47663793 | T | TACACAC | intron_variant | MODIFIER | HG00323.hp1 HG00735.hp1 HG01070.hp2 others(22): Show |
a0001a0002a0015 | a0001c0001a0001c0002a0001c0008others(5): Show | a0001c0001t0001a0001c0002t0006a0001c0008t0006others(5): Show | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0102 others(22): Show |
25 | 312 | 0.0801 | 6 | c.-10 others(25): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47685741 | C | CTGTGTG | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01106.hp1 others(10): Show |
a0001a0006a0027 | a0001c0001a0001c0002a0006c0009others(1): Show | a0001c0001t0001a0001c0002t0003a0001c0002t0006others(2): Show | a0001c0001t0001g0014 a0001c0001t0001g0033 a0001c0001t0001g0069 others(10): Show |
13 | 312 | 0.0417 | 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 | 47685786 | T | TGTGCGC | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG00733.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0002 | a0001c0001t0001g0038 a0001c0001t0002g0248 a0002c0003t0002g0086 others(1): Show |
4 | 312 | 0.0128 | 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 | 47685786 | T | TGTGTGC | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00642.hp1 others(16): Show |
a0001a0002a0012others(1): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0003others(7): Show | a0001c0001t0001g0271 a0001c0001t0007g0060 a0001c0001t0007g0221 others(16): Show |
19 | 312 | 0.0609 | 6 | c.228 others(25): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BID_chr22_17729138_17779469 | 17742478 | C | CCCCCCA | intron_variant | MODIFIER | HG00733.hp2 HG01255.hp2 HG01496.hp1 others(27): Show |
a0001a0002 | a0001c0006a0002c0002 | a0001c0006t0002a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0006t0002g0275 a0002c0002t0001g0017 a0002c0002t0001g0080 others(26): Show |
30 | 362 | 0.0829 | 6 | c.223 others(23): Show |
BID | ENSG00000015475.19 | transcript | ENST00000622694.5 | protein_coding | 3/5 | chr22 | TogoVar | |||||||
BIN1_chr2_127043032_127112154 | 127046636 | T | TTTTTTG | downstream_gene_variant | MODIFIER | HG01175.hp2 HG01884.hp2 HG02145.hp1 others(12): Show |
a0002 | a0002c0005a0002c0021 | a0002c0005t0001a0002c0021t0001 | a0002c0005t0001g0004 a0002c0005t0001g0013 a0002c0005t0001g0091 others(9): Show |
15 | 344 | 0.0436 | 6 | c.*18 others(17): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 1395 | chr2 | TogoVar | |||||||
BIN1_chr2_127043032_127112154 | 127069731 | A | AACACAC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01346.hp1 others(33): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0024others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0024t0001others(2): Show | a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0030 others(32): Show |
36 | 344 | 0.1047 | 6 | c.411 others(21): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 5/18 | chr2 | TogoVar | |||||||
BIN1_chr2_127043032_127112154 | 127099350 | A | ATGTGTG | intron_variant | MODIFIER | HG00408.hp2 HG02015.hp2 HG02129.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0002t0001g0007 others(2): Show |
6 | 344 | 0.0174 | 6 | c.84+ others(21): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 1/18 | chr2 | TogoVar | |||||||
BIN1_chr2_127043032_127112154 | 127100999 | C | CGGGGGG | intron_variant | MODIFIER | HG00621.hp2 HG00673.hp2 HG01175.hp2 others(23): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0192 others(23): Show |
26 | 344 | 0.0756 | 6 | c.84+ others(21): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 1/18 | chr2 | TogoVar | |||||||
BIN1_chr2_127043032_127112154 | 127101000 | G | GGGGGGC | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(33): Show |
a0001a0002a0012 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(7): Show | a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0078 others(30): Show |
36 | 344 | 0.1047 | 6 | c.84+ others(21): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 1/18 | chr2 | TogoVar | |||||||
BIN1_chr2_127043032_127112154 | 127105490 | C | CTCCTCG | intron_variant | MODIFIER | HG01891.hp2 HG02886.hp1 HG02895.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0051 a0001c0002t0001g0064 a0001c0002t0001g0065 |
3 | 344 | 0.0087 | 6 | c.84+ others(21): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 1/18 | chr2 | TogoVar | |||||||
BIN2_chr12_51276038_51329174 | 51320934 | A | AACACAC | intron_variant | MODIFIER | HG00408.hp2 HG01192.hp1 HG02258.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0004t0001others(1): Show | a0001c0001t0001g0079 a0001c0001t0001g0272 a0001c0001t0006g0270 others(3): Show |
6 | 400 | 0.0150 | 6 | c.81+ others(21): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
BIN3_chr8_22615418_22674121 | 22616866 | C | CTTTTTT | downstream_gene_variant | MODIFIER | HG02056.hp1 HG03225.hp1 NA18951.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007a0001c0001t0011 | a0001c0001t0006g0308 a0001c0001t0006g0316 a0001c0001t0006g0318 others(3): Show |
6 | 386 | 0.0155 | 6 | c.*45 others(17): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 3551 | chr8 | TogoVar | |||||||
BIN3_chr8_22615418_22674121 | 22649850 | C | CACACAT | intron_variant | MODIFIER | HG00140.hp2 HG01069.hp1 HG01099.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0016a0001c0001t0026others(4): Show | a0001c0001t0002g0070 a0001c0001t0002g0082 a0001c0001t0002g0141 others(14): Show |
17 | 386 | 0.0440 | 6 | c.9-5 others(19): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
BIN3_chr8_22615418_22674121 | 22661352 | C | CTTTTTT | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01109.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(8): Show | a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0235 others(27): Show |
30 | 386 | 0.0777 | 6 | c.8+7 others(19): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
BIN3_chr8_22615418_22674121 | 22663207 | A | AGTGTGT | intron_variant | MODIFIER | HG00738.hp2 HG02630.hp1 HG02965.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(1): Show | a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 others(5): Show |
8 | 386 | 0.0207 | 6 | c.8+5 others(19): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 1/8 | chr8 | TogoVar |