regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BRINP1_chr9_119161629_119374435 | 119219646 | TGAGAGAG others(5): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00639.hp1 others(46): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0003others(8): Show | a0001c0001t0002g0220a0001c0001t0002g0229a0001c0002t0001g0024others(46): Show | 49 | 236 | 0.2076 | -12 | c.686 others(29): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 5/7 | chr9 | TogoVar | ||||||
BRINP1_chr9_119161629_119374435 | 119249805 | TGGAAGGA others(5): Show |
T | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0233 | 1 | 236 | 0.0042 | -12 | c.219 others(27): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 2/7 | chr9 | TogoVar | ||||||
BRINP1_chr9_119161629_119374435 | 119267636 | CAATAAAT others(5): Show |
C | intron_variant | MODIFIER | HG02976.hp1 HG03195.hp1 NA20300.hp2 |
a0001 | a0001c0004a0001c0006 | a0001c0004t0001a0001c0004t0002a0001c0006t0001 | a0001c0004t0001g0016a0001c0004t0002g0232a0001c0006t0001g0017 | 3 | 236 | 0.0127 | -12 | c.219 others(31): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 2/7 | chr9 | TogoVar | ||||||
BRINP1_chr9_119161629_119374435 | 119268247 | AATAGATA others(5): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG02922.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0067a0001c0003t0002g0227 | 2 | 236 | 0.0085 | -12 | c.219 others(31): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 2/7 | chr9 | TogoVar | ||||||
BRINP1_chr9_119161629_119374435 | 119366503 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01106.hp2 HG01169.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0076a0001c0001t0001g0146a0001c0001t0001g0163others(12): Show | 15 | 236 | 0.0636 | -12 | c.-51 others(29): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 1/7 | chr9 | TogoVar | ||||||
BRINP1_chr9_119161629_119374435 | 119367221 | GATATATA others(5): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02622.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0003t0001a0001c0005t0001 | a0001c0001t0001g0212a0001c0003t0001g0211a0001c0003t0001g0213others(1): Show | 4 | 236 | 0.0170 | -12 | c.-51 others(29): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 1/7 | chr9 | TogoVar | ||||||
BRINP1_chr9_119161629_119374435 | 119373722 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(108): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0033a0001c0001t0001g0035a0001c0001t0001g0039others(108): Show | 111 | 236 | 0.4703 | -12 | c.-47 others(23): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 4288 | chr9 | TogoVar | ||||||
BRINP2_chr1_177165958_177287422 | 177176512 | CATTATTA others(5): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(56): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0011a0001c0001t0001g0183a0001c0001t0001g0186others(55): Show | 59 | 252 | 0.2341 | -12 | c.-77 others(29): Show |
BRINP2 | ENSG00000198797.7 | transcript | ENST00000361539.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BRINP2_chr1_177165958_177287422 | 177177294 | AAACAACA others(5): Show |
A | intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0018 | 1 | 252 | 0.0040 | -12 | c.-77 others(29): Show |
BRINP2 | ENSG00000198797.7 | transcript | ENST00000361539.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BRINP2_chr1_177165958_177287422 | 177200293 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02723.hp1 HG02895.hp2 HG02897.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0002c0003t0015 | a0001c0001t0001g0172a0001c0001t0004g0173a0001c0001t0004g0174others(1): Show | 4 | 252 | 0.0159 | -12 | c.-77 others(31): Show |
BRINP2 | ENSG00000198797.7 | transcript | ENST00000361539.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BRINP2_chr1_177165958_177287422 | 177212066 | CAGATAGA others(5): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02970.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0018 | a0001c0001t0001g0171a0002c0002t0018g0179 | 2 | 252 | 0.0079 | -12 | c.-76 others(31): Show |
BRINP2 | ENSG00000198797.7 | transcript | ENST00000361539.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BRINP2_chr1_177165958_177287422 | 177287183 | TCTTCCTT others(5): Show |
T | downstream_gene_variant | MODIFIER | HG04199.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0183a0001c0001t0003g0093 | 2 | 252 | 0.0079 | -12 | c.*56 others(23): Show |
BRINP2 | ENSG00000198797.7 | transcript | ENST00000361539.5 | protein_coding | 4762 | chr1 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190148596 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG02886.hp2 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0196a0001c0001t0001g0197a0001c0001t0002g0207others(1): Show | 4 | 240 | 0.0167 | -12 | c.118 others(33): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 7/7 | chr1 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190169116 | ACTAGCAG others(5): Show |
A | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0201 | 1 | 240 | 0.0042 | -12 | c.962 others(29): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190203750 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG01081.hp1 HG01496.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0014a0001c0001t0001g0022a0001c0001t0001g0027others(13): Show | 16 | 240 | 0.0667 | -12 | c.961 others(31): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190259612 | CAAAAAAT others(5): Show |
C | intron_variant | MODIFIER | HG01123.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152a0001c0001t0001g0153 | 2 | 240 | 0.0083 | -12 | c.618 others(29): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 4/7 | chr1 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190259615 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02809.hp2 HG02970.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095a0001c0001t0001g0128a0001c0001t0001g0129others(2): Show | 5 | 240 | 0.0208 | -12 | c.618 others(29): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 4/7 | chr1 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190339005 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG01358.hp1 HG02723.hp1 HG02886.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0169a0001c0001t0001g0196a0001c0001t0001g0197others(3): Show | 6 | 240 | 0.0250 | -12 | c.237 others(31): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190396713 | GATATATA others(5): Show |
G | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0230 | 1 | 240 | 0.0042 | -12 | c.236 others(31): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190405481 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG02055.hp2 HG02155.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0120a0001c0001t0001g0121a0001c0001t0001g0122others(12): Show | 15 | 240 | 0.0625 | -12 | c.236 others(31): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190453203 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0235 | 1 | 240 | 0.0042 | -12 | c.236 others(29): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
BRIP1_chr17_61674139_61868528 | 61697336 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG01069.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(3): Show | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(22): Show | 25 | 266 | 0.0940 | -12 | c.249 others(31): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 17/19 | chr17 | TogoVar | ||||||
BRIP1_chr17_61674139_61868528 | 61765379 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0260 | 1 | 266 | 0.0038 | -12 | c.209 others(33): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | ||||||
BRIP1_chr17_61674139_61868528 | 61765417 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG02293.hp2 HG03490.hp1 HG03704.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0024 | a0001c0001t0004g0173a0001c0001t0004g0211a0001c0001t0024g0066 | 3 | 266 | 0.0113 | -12 | c.209 others(33): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | ||||||
BRIP1_chr17_61674139_61868528 | 61765419 | ATATATTT others(5): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 266 | 0.0038 | -12 | c.209 others(33): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | ||||||
BRIP1_chr17_61674139_61868528 | 61772157 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG01257.hp1 HG02080.hp2 HG03017.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0002c0002t0003a0002c0002t0007others(1): Show | a0001c0001t0008g0192a0002c0002t0003g0205a0002c0002t0003g0212others(6): Show | 9 | 266 | 0.0338 | -12 | c.209 others(31): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | ||||||
BRIP1_chr17_61674139_61868528 | 61772198 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG01516.hp1 HG02080.hp1 NA18943.hp1 others(5): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0004 | a0001c0001t0017a0002c0003t0005a0002c0003t0019others(1): Show | a0001c0001t0017g0145a0002c0003t0005g0038a0002c0003t0005g0058others(5): Show | 8 | 266 | 0.0301 | -12 | c.209 others(31): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | ||||||
BRIP1_chr17_61674139_61868528 | 61804410 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00673.hp2 others(49): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0013 | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(7): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(49): Show | 52 | 266 | 0.1955 | -12 | c.919 others(29): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 7/19 | chr17 | TogoVar | ||||||
BRIP1_chr17_61674139_61868528 | 61804436 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0009 | a0001c0009t0022 | a0001c0009t0022g0155 | 1 | 266 | 0.0038 | -12 | c.919 others(29): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 7/19 | chr17 | TogoVar | ||||||
BRIP1_chr17_61674139_61868528 | 61804954 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG01257.hp1 others(12): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0013 | a0001c0001t0001a0001c0001t0006a0001c0001t0018others(4): Show | a0001c0001t0001g0025a0001c0001t0001g0048a0001c0001t0001g0049others(12): Show | 15 | 266 | 0.0564 | -12 | c.919 others(29): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 7/19 | chr17 | TogoVar | ||||||
BRIP1_chr17_61674139_61868528 | 61823757 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG01109.hp1 others(28): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(9): Show | a0001c0001t0001g0036a0001c0001t0001g0075a0001c0001t0002g0052others(28): Show | 31 | 266 | 0.1165 | -12 | c.628 others(31): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 6/19 | chr17 | TogoVar | ||||||
BRIP1_chr17_61674139_61868528 | 61838546 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02572.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008 | a0001c0001t0006g0152a0001c0001t0008g0246a0001c0001t0008g0247 | 3 | 266 | 0.0113 | -12 | c.627 others(29): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 6/19 | chr17 | TogoVar | ||||||
BRIX1_chr5_34910711_34930996 | 34923804 | GAGATTGC others(5): Show |
G | intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 440 | 0.0023 | -12 | c.663 others(27): Show |
BRIX1 | ENSG00000113460.13 | transcript | ENST00000336767.6 | protein_coding | 8/9 | chr5 | TogoVar | ||||||
BRMS1L_chr14_35821338_35876963 | 35823940 | CTTTATTT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 374 | 0.0027 | -12 | c.-25 others(23): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 2397 | chr14 | TogoVar | ||||||
BRMS1L_chr14_35821338_35876963 | 35825599 | AGAGGGCG others(5): Show |
A | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02622.hp2 HG02630.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008a0001c0001t0003g0009 | 6 | 374 | 0.0160 | -12 | c.-91 others(21): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 738 | chr14 | TogoVar | ||||||
BRMS1L_chr14_35821338_35876963 | 35873189 | GTATATAT others(5): Show |
G | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02976.hp2 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058a0001c0001t0001g0120a0001c0001t0001g0121others(1): Show | 4 | 374 | 0.0107 | -12 | c.*27 others(23): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 1227 | chr14 | TogoVar | ||||||
BRMS1L_chr14_35821338_35876963 | 35873837 | ATTACTTA others(5): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02886.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0137 | 3 | 374 | 0.0080 | -12 | c.*33 others(23): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 1875 | chr14 | TogoVar | ||||||
BRMS1L_chr14_35821338_35876963 | 35875710 | ATTAAGGA others(5): Show |
A | downstream_gene_variant | MODIFIER | HG01123.hp1 HG01496.hp1 HG01884.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0059a0001c0001t0001g0060others(12): Show | 16 | 374 | 0.0428 | -12 | c.*52 others(23): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 3748 | chr14 | TogoVar | ||||||
BRPF1_chr3_9726735_9753015 | 9746786 | GGCATAAA others(5): Show |
G | intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 426 | 0.0024 | -12 | c.347 others(29): Show |
BRPF1 | ENSG00000156983.17 | transcript | ENST00000383829.7 | protein_coding | 13/13 | chr3 | TogoVar | ||||||
BRPF3_chr6_36191744_36237790 | 36194055 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02622.hp2 HG02809.hp1 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061a0001c0001t0002g0062a0001c0001t0002g0070others(1): Show | 4 | 336 | 0.0119 | -12 | c.-29 others(23): Show |
BRPF3 | ENSG00000096070.19 | transcript | ENST00000357641.10 | protein_coding | 2688 | chr6 | TogoVar | ||||||
BRSK1_chr19_55278997_55317562 | 55307747 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01123.hp2 HG01361.hp2 HG01934.hp2 others(1): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0001t0006a0001c0014t0001 | a0001c0001t0001g0013a0001c0001t0001g0167a0001c0001t0006g0206others(1): Show | 4 | 338 | 0.0118 | -12 | c.209 others(29): Show |
BRSK1 | ENSG00000160469.17 | transcript | ENST00000309383.6 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BRSK2_chr11_1384934_1467689 | 1394579 | CATGGAGA others(5): Show |
C | intron_variant | MODIFIER | NA18952.hp1 NA18959.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057a0001c0001t0001g0059 | 2 | 360 | 0.0056 | -12 | c.91+ others(27): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1403409 | TGCTGGGG others(5): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG02647.hp1 HG02976.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0014a0001c0001t0043others(2): Show | a0001c0001t0001g0048a0001c0001t0014g0039a0001c0001t0043g0050others(2): Show | 5 | 360 | 0.0139 | -12 | c.91+ others(29): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BRSK2_chr11_1384934_1467689 | 1443701 | TGTGTGTG others(5): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG01167.hp2 HG01891.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0008a0002c0002t0010others(3): Show | a0001c0001t0001g0141a0002c0002t0008g0116a0002c0002t0010g0246others(3): Show | 6 | 360 | 0.0167 | -12 | c.780 others(25): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BRWD1_chr21_39180482_39318632 | 39217024 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | NA18967.hp2 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0020a0001c0001t0004g0266 | 2 | 338 | 0.0059 | -12 | c.365 others(31): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 31/40 | chr21 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39241473 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG01123.hp1 HG01358.hp1 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(3): Show | a0001c0001t0003a0002c0002t0001a0003c0004t0005others(7): Show | a0001c0001t0003g0299a0002c0002t0001g0186a0003c0004t0005g0096others(18): Show | 21 | 338 | 0.0621 | -12 | c.248 others(31): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 21/40 | chr21 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39244921 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | NA18612.hp2 | a0004 | a0004c0003 | a0004c0003t0072 | a0004c0003t0072g0251 | 1 | 338 | 0.0030 | -12 | c.248 others(31): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 21/40 | chr21 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39248641 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA18963.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0240 | 1 | 338 | 0.0030 | -12 | c.235 others(29): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 20/40 | chr21 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39249913 | GGGGTGTG others(5): Show |
G | intron_variant | MODIFIER | HG02809.hp2 NA19066.hp2 |
a0001a0003 | a0001c0001a0003c0014 | a0001c0001t0009a0003c0014t0028 | a0001c0001t0009g0013a0003c0014t0028g0016 | 2 | 338 | 0.0059 | -12 | c.234 others(29): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 20/40 | chr21 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39249915 | GGTGTGTG others(5): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG01256.hp1 HG01928.hp1 others(22): Show |
a0004a0012 | a0004c0003a0004c0006a0004c0019others(1): Show | a0004c0003t0006a0004c0003t0039a0004c0003t0052others(8): Show | a0004c0003t0006g0144a0004c0003t0006g0148a0004c0003t0006g0149others(22): Show | 25 | 338 | 0.0740 | -12 | c.234 others(29): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 20/40 | chr21 | TogoVar |