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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BRINP3_chr1_190092658_190482864 | 190457460 | A | AAAAACAA others(3): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00609.hp1 others(57): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0009 | a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0024 others(57): Show |
60 | 240 | 0.2500 | 10 | c.-50 others(27): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190472812 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02572.hp1 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0202 a0001c0001t0003g0006 a0001c0001t0003g0007 |
3 | 240 | 0.0125 | 10 | c.-51 others(27): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190482433 | C | CATATATA others(3): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 HG02886.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0007g0198 |
3 | 240 | 0.0125 | 10 | c.-50 others(21): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 4570 | chr1 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61689026 | C | CTGTTATG others(3): Show |
intron_variant | MODIFIER | HG02559.hp2 NA19009.hp2 |
a0002 | a0002c0002a0002c0003 | a0002c0002t0007a0002c0003t0064 | a0002c0002t0007g0225 a0002c0003t0064g0248 |
2 | 266 | 0.0075 | 10 | c.257 others(29): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 18/19 | chr17 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61765829 | G | GCACACAC others(3): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01081.hp2 HG01167.hp1 others(15): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(7): Show | a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0063 others(15): Show |
18 | 266 | 0.0677 | 10 | c.209 others(31): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61772208 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0003 | a0002c0003t0064 | a0002c0003t0064g0248 | 1 | 266 | 0.0038 | 10 | c.209 others(29): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61823763 | C | CACACACA others(3): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02738.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0037a0002c0003t0039 | a0001c0001t0037g0033 a0002c0003t0039g0030 |
2 | 266 | 0.0075 | 10 | c.628 others(29): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 6/19 | chr17 | TogoVar | |||||||
BRK1_chr3_10110675_10132190 | 10111390 | C | CAAAAAAA others(3): Show |
upstream_gene_variant | MODIFIER | HG01255.hp1 HG01981.hp2 HG02055.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0116 others(6): Show |
9 | 356 | 0.0253 | 10 | c.-43 others(21): Show |
BRK1 | ENSG00000254999.4 | transcript | ENST00000530758.2 | protein_coding | 4284 | chr3 | TogoVar | |||||||
BRK1_chr3_10110675_10132190 | 10112493 | A | ATTTTTTT others(3): Show |
upstream_gene_variant | MODIFIER | HG01928.hp2 HG01975.hp1 HG02630.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005 | a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0070 others(8): Show |
12 | 356 | 0.0337 | 10 | c.-32 others(21): Show |
BRK1 | ENSG00000254999.4 | transcript | ENST00000530758.2 | protein_coding | 3181 | chr3 | TogoVar | |||||||
BRK1_chr3_10110675_10132190 | 10131208 | T | TCCTCCTC others(3): Show |
downstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 356 | 0.0028 | 10 | c.*49 others(21): Show |
BRK1 | ENSG00000254999.4 | transcript | ENST00000530758.2 | protein_coding | 4019 | chr3 | TogoVar | |||||||
BRMS1L_chr14_35821338_35876963 | 35873189 | G | GTATATAT others(3): Show |
downstream_gene_variant | MODIFIER | HG01175.hp2 HG02056.hp1 HG02145.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0046 a0001c0001t0001g0207 others(5): Show |
8 | 374 | 0.0214 | 10 | c.*27 others(21): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 1227 | chr14 | TogoVar | |||||||
BRMS1L_chr14_35821338_35876963 | 35873189 | G | GTGTGTAT others(3): Show |
downstream_gene_variant | MODIFIER | HG02970.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 a0001c0001t0001g0115 |
2 | 374 | 0.0054 | 10 | c.*27 others(21): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 1227 | chr14 | TogoVar | |||||||
BRMS1L_chr14_35821338_35876963 | 35873784 | C | CAAAAAAA others(3): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 HG01175.hp1 HG02015.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0032 a0001c0001t0001g0033 others(22): Show |
29 | 374 | 0.0775 | 10 | c.*33 others(21): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 1822 | chr14 | TogoVar | |||||||
BRMS1_chr11_66332339_66350104 | 66342056 | C | CTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 | 1 | 424 | 0.0024 | 10 | c.139 others(23): Show |
BRMS1 | ENSG00000174744.14 | transcript | ENST00000359957.8 | protein_coding | 2/9 | chr11 | TogoVar | |||||||
BROX_chr1_222707564_222740187 | 222738564 | C | CAAAAAAA others(3): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00735.hp2 HG01109.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0010a0001c0001t0014others(3): Show | a0001c0001t0003g0016 a0001c0001t0003g0045 a0001c0001t0003g0123 others(9): Show |
13 | 386 | 0.0337 | 10 | c.*58 others(21): Show |
BROX | ENSG00000162819.12 | transcript | ENST00000340934.10 | protein_coding | 3378 | chr1 | TogoVar | |||||||
BRS3_chrX_136482947_136498780 | 136491913 | G | GTTTTTTT others(3): Show |
intron_variant | MODIFIER | NA18991.hp1 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 2 | 280 | 0.0071 | 10 | c.787 others(23): Show |
BRS3 | ENSG00000102239.5 | transcript | ENST00000370648.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
BRSK1_chr19_55278997_55317562 | 55307747 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02970.hp2 NA18906.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0137 a0001c0001t0003g0032 a0001c0001t0003g0081 others(1): Show |
4 | 338 | 0.0118 | 10 | c.209 others(27): Show |
BRSK1 | ENSG00000160469.17 | transcript | ENST00000309383.6 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1444355 | G | GCAACCCA others(3): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0220 | 1 | 360 | 0.0028 | 10 | c.781 others(25): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 8/19 | chr11 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1446359 | A | AGGGCTGG others(3): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 360 | 0.0028 | 10 | c.122 others(27): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1466268 | T | TACACACA others(3): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 360 | 0.0028 | 10 | c.*55 others(21): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 3580 | chr11 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39185295 | T | TAAAAAAA others(3): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG01074.hp1 HG01256.hp2 others(5): Show |
a0003a0004 | a0003c0004a0004c0003 | a0003c0004t0005a0003c0004t0014a0003c0004t0019others(1): Show | a0003c0004t0005g0119 a0003c0004t0005g0124 a0003c0004t0005g0126 others(5): Show |
8 | 338 | 0.0237 | 10 | c.*10 others(23): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 186 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39203438 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02717.hp2 NA18946.hp2 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0091 a0003c0004t0005g0122 a0003c0004t0005g0134 others(1): Show |
4 | 338 | 0.0118 | 10 | c.436 others(27): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 37/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39207451 | A | AACACACA others(3): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00673.hp1 HG01943.hp2 others(26): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0008a0001c0026others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0002g0036 a0001c0001t0002g0053 a0001c0001t0002g0054 others(26): Show |
29 | 338 | 0.0858 | 10 | c.419 others(29): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 36/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39217010 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0194 | 1 | 338 | 0.0030 | 10 | c.365 others(29): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 31/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39241473 | T | TAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02148.hp1 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0313 a0001c0001t0003g0315 |
2 | 338 | 0.0059 | 10 | c.248 others(29): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 21/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39244921 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00673.hp1 HG02818.hp1 others(4): Show |
a0001a0004 | a0001c0001a0001c0008a0004c0003 | a0001c0001t0004a0001c0001t0062a0001c0008t0003others(2): Show | a0001c0001t0004g0266 a0001c0001t0004g0276 a0001c0001t0004g0283 others(4): Show |
7 | 338 | 0.0207 | 10 | c.248 others(29): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 21/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39286016 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(111): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0008a0001c0022others(9): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(28): Show | a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 others(111): Show |
114 | 338 | 0.3373 | 10 | c.832 others(27): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 8/40 | chr21 | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80730389 | A | AAGAAAGA others(3): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0074 | 1 | 265 | 0.0038 | 10 | c.112 others(27): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 12/40 | chrX | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80750857 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01981.hp2 HG03710.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0010a0001c0001t0030others(2): Show | a0001c0001t0007g0066 a0001c0001t0010g0083 a0001c0001t0030g0052 others(2): Show |
5 | 265 | 0.0189 | 10 | c.431 others(27): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 6/40 | chrX | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80809759 | A | AAGAGAGA others(3): Show |
5_prime_UTR_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0072 | a0001c0001t0072g0055 | 1 | 265 | 0.0038 | 10 | c.-29 others(19): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 1/41 | 289 | chrX | TogoVar | ||||||
BRWD3_chrX_80664503_80814877 | 80809784 | A | AGAGAGAG others(3): Show |
5_prime_UTR_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0006 | 1 | 265 | 0.0038 | 10 | c.-31 others(19): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 1/41 | 314 | chrX | TogoVar | ||||||
BSCL2_chr11_62685275_62712424 | 62696276 | T | TTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02970.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0027 a0002c0003t0002g0035 |
2 | 330 | 0.0061 | 10 | c.487 others(27): Show |
BSCL2 | ENSG00000168000.16 | transcript | ENST00000360796.10 | protein_coding | 3/10 | chr11 | TogoVar | |||||||
BSCL2_chr11_62685275_62712424 | 62696278 | T | TTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00621.hp1 HG00639.hp2 others(39): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0002 | a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0023 others(30): Show |
42 | 330 | 0.1273 | 10 | c.487 others(27): Show |
BSCL2 | ENSG00000168000.16 | transcript | ENST00000360796.10 | protein_coding | 3/10 | chr11 | TogoVar | |||||||
BSCL2_chr11_62685275_62712424 | 62696278 | T | TTTTGTGT others(3): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0056 | 1 | 330 | 0.0030 | 10 | c.487 others(27): Show |
BSCL2 | ENSG00000168000.16 | transcript | ENST00000360796.10 | protein_coding | 3/10 | chr11 | TogoVar | |||||||
BSG_chr19_567596_588493 | 570682 | G | GGAGGGGC others(3): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0161 a0001c0001t0003g0165 |
2 | 306 | 0.0065 | 10 | c.-19 others(21): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1913 | chr19 | TogoVar | |||||||
BSG_chr19_567596_588493 | 576961 | C | CGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG01517.hp2 HG02015.hp2 HG02698.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0020 a0001c0003t0004g0059 a0001c0003t0004g0071 others(1): Show |
5 | 306 | 0.0163 | 10 | c.68- others(23): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1/8 | chr19 | TogoVar | |||||||
BSG_chr19_567596_588493 | 586285 | C | CTTTTTTT others(3): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00544.hp2 others(52): Show |
a0001a0016 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0007a0001c0001t0023a0001c0002t0001others(9): Show | a0001c0001t0007g0112 a0001c0001t0023g0068 a0001c0002t0001g0001 others(37): Show |
55 | 306 | 0.1797 | 10 | c.*35 others(21): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 2793 | chr19 | TogoVar | |||||||
BSG_chr19_567596_588493 | 586828 | A | AAGGCACT others(3): Show |
downstream_gene_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0077 | 1 | 306 | 0.0033 | 10 | c.*40 others(21): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 3336 | chr19 | TogoVar | |||||||
BSND_chr1_54993933_55022172 | 54996837 | C | CTTTCTTT others(3): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG02630.hp2 HG02809.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0034a0002c0002t0086a0002c0002t0093 | a0002c0002t0034g0049 a0002c0002t0086g0087 a0002c0002t0093g0109 |
4 | 448 | 0.0089 | 10 | c.-23 others(21): Show |
BSND | ENSG00000162399.9 | transcript | ENST00000651561.1 | protein_coding | 2095 | chr1 | TogoVar | |||||||
BSND_chr1_54993933_55022172 | 55001201 | C | CGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0189 | a0001c0001t0189g0119 | 1 | 448 | 0.0022 | 10 | c.177 others(27): Show |
BSND | ENSG00000162399.9 | transcript | ENST00000651561.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49587887 | T | TTTTTCTT others(3): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00544.hp2 others(30): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0008others(8): Show | a0001c0001t0002a0001c0001t0003a0002c0002t0001others(11): Show | a0001c0001t0002g0113 a0001c0001t0002g0151 a0001c0001t0002g0177 others(30): Show |
33 | 186 | 0.1774 | 10 | c.224 others(29): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49613303 | C | CGAGAGAG others(3): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01106.hp1 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(7): Show | a0001c0001t0002g0151 a0001c0001t0002g0178 a0001c0001t0003g0120 others(14): Show |
17 | 186 | 0.0914 | 10 | c.225 others(29): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49617283 | T | TTATATAT others(3): Show |
intron_variant | MODIFIER | HG01517.hp2 NA19043.hp1 |
a0003 | a0003c0004 | a0003c0004t0004a0003c0004t0006 | a0003c0004t0004g0028 a0003c0004t0006g0032 |
2 | 186 | 0.0108 | 10 | c.225 others(27): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49666899 | G | GGGCTTCC others(3): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02486.hp1 HG02683.hp1 others(3): Show |
a0005a0019 | a0005c0007a0005c0032a0005c0034others(1): Show | a0005c0007t0007a0005c0007t0033a0005c0007t0034others(3): Show | a0005c0007t0007g0002 a0005c0007t0033g0005 a0005c0007t0034g0004 others(3): Show |
6 | 186 | 0.0323 | 10 | c.*10 others(27): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49673087 | C | CTTTTTTT others(3): Show |
downstream_gene_variant | MODIFIER | HG01074.hp1 HG01074.hp2 HG02698.hp2 others(1): Show |
a0001a0003a0016 | a0001c0001a0003c0003a0016c0026 | a0001c0001t0002a0003c0003t0004a0016c0026t0002 | a0001c0001t0002g0104 a0003c0003t0004g0017 a0003c0003t0004g0019 others(1): Show |
4 | 186 | 0.0215 | 10 | c.*56 others(21): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1539 | chr3 | TogoVar | |||||||
BSPH1_chr19_47963046_47997170 | 47963893 | C | CTTTCTTT others(3): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG02615.hp2 HG03491.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0007 a0001c0001t0001g0093 a0001c0001t0001g0135 others(5): Show |
8 | 444 | 0.0180 | 10 | c.*43 others(21): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 4152 | chr19 | TogoVar | |||||||
BSPH1_chr19_47963046_47997170 | 47969684 | G | GGAGAGAG others(3): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00735.hp1 HG01175.hp2 others(10): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0136 a0001c0001t0001g0190 a0001c0001t0001g0250 others(10): Show |
13 | 444 | 0.0293 | 10 | c.*3- others(25): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
BSPH1_chr19_47963046_47997170 | 47969725 | G | GAGAGAGA others(3): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0393 | 1 | 444 | 0.0023 | 10 | c.*3- others(25): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
BSPH1_chr19_47963046_47997170 | 47978001 | G | GATATATA others(3): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG00741.hp2 others(21): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0079 a0001c0001t0001g0080 others(20): Show |
24 | 444 | 0.0541 | 10 | c.125 others(25): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 3/5 | chr19 | TogoVar | |||||||
BSPRY_chr9_113344541_113376222 | 113352480 | G | GACACACA others(3): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02572.hp1 HG03130.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0002t0001others(1): Show | a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0005g0223 others(2): Show |
6 | 448 | 0.0134 | 10 | c.202 others(27): Show |
BSPRY | ENSG00000119411.11 | transcript | ENST00000374183.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |