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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BRMS1L_chr14_35821338_35876963 | 35874213 | C | CAAAAAA | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG02056.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0035 others(15): Show |
21 | 374 | 0.0562 | 6 | c.*37 others(17): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 2251 | chr14 | TogoVar | |||||||
BRMS1_chr11_66332339_66350104 | 66342056 | C | CTGTGTG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(201): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0014 others(26): Show |
204 | 424 | 0.4811 | 6 | c.139 others(19): Show |
BRMS1 | ENSG00000174744.14 | transcript | ENST00000359957.8 | protein_coding | 2/9 | chr11 | TogoVar | |||||||
BROX_chr1_222707564_222740187 | 222716085 | T | TTTTTTA | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006 a0001c0001t0004g0041 a0001c0001t0004g0043 others(3): Show |
19 | 386 | 0.0492 | 6 | c.101 others(21): Show |
BROX | ENSG00000162819.12 | transcript | ENST00000340934.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BRPF3_chr6_36191744_36237790 | 36227236 | C | CTTGTTT | intron_variant | MODIFIER | HG01109.hp2 HG02258.hp2 HG02976.hp1 others(5): Show |
a0001 | a0001c0002a0001c0016 | a0001c0002t0006a0001c0016t0005 | a0001c0002t0006g0051 a0001c0002t0006g0052 a0001c0002t0006g0053 others(5): Show |
8 | 336 | 0.0238 | 6 | c.328 others(25): Show |
BRPF3 | ENSG00000096070.19 | transcript | ENST00000357641.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BRS3_chrX_136482947_136498780 | 136491913 | G | GTTTTTT | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 2 | 280 | 0.0071 | 6 | c.787 others(19): Show |
BRS3 | ENSG00000102239.5 | transcript | ENST00000370648.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
BRSK1_chr19_55278997_55317562 | 55281129 | A | ATGTGTG | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01884.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0248 a0001c0001t0001g0254 a0001c0001t0002g0157 others(12): Show |
17 | 338 | 0.0503 | 6 | c.-33 others(17): Show |
BRSK1 | ENSG00000160469.17 | transcript | ENST00000309383.6 | protein_coding | 2867 | chr19 | TogoVar | |||||||
BRSK1_chr19_55278997_55317562 | 55307747 | T | TACACAC | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG02145.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0062 a0001c0001t0002g0161 a0001c0001t0002g0287 others(5): Show |
9 | 338 | 0.0266 | 6 | c.209 others(23): Show |
BRSK1 | ENSG00000160469.17 | transcript | ENST00000309383.6 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BRSK1_chr19_55278997_55317562 | 55313810 | G | GGCTCCA | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00639.hp2 others(126): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0001c0008others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0007 a0001c0001t0001g0028 a0001c0001t0001g0083 others(118): Show |
129 | 338 | 0.3817 | 6 | c.*17 others(17): Show |
BRSK1 | ENSG00000160469.17 | transcript | ENST00000309383.6 | protein_coding | 1249 | chr19 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1406241 | C | CGGTGGA | intron_variant | MODIFIER | HG01192.hp1 HG02647.hp1 HG02976.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0014a0001c0001t0043others(2): Show | a0001c0001t0001g0048 a0001c0001t0014g0039 a0001c0001t0043g0050 others(2): Show |
5 | 360 | 0.0139 | 6 | c.91+ others(23): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39207451 | A | AACACAC | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp1 HG01071.hp1 others(15): Show |
a0001a0003a0004 | a0001c0001a0003c0004a0004c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(6): Show | a0001c0001t0002g0020 a0001c0001t0002g0063 a0001c0001t0002g0080 others(15): Show |
18 | 338 | 0.0533 | 6 | c.419 others(25): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 36/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39244921 | A | AATATAT | intron_variant | MODIFIER | HG00673.hp2 HG01346.hp1 HG02559.hp1 others(9): Show |
a0002a0004 | a0002c0002a0004c0003 | a0002c0002t0069a0004c0003t0006a0004c0003t0008others(1): Show | a0002c0002t0069g0333 a0004c0003t0006g0165 a0004c0003t0008g0018 others(9): Show |
12 | 338 | 0.0355 | 6 | c.248 others(25): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 21/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39313589 | G | GCGCCGC | 5_prime_UTR_variant | MODIFIER | HG00733.hp1 HG01257.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0335 a0001c0001t0016g0336 a0001c0001t0016g0337 |
3 | 338 | 0.0089 | 6 | c.-10 others(14): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 1/41 | 99 | chr21 | TogoVar | ||||||
BRWD3_chrX_80664503_80814877 | 80696519 | T | TACACAC | intron_variant | MODIFIER | HG02683.hp2 NA18968.hp2 NA18994.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0032a0001c0001t0124 | a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0032g0094 others(1): Show |
4 | 265 | 0.0151 | 6 | c.306 others(23): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 26/40 | chrX | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80748788 | T | TTGTTCA | intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0211 | 1 | 265 | 0.0038 | 6 | c.431 others(23): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 6/40 | chrX | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80750857 | T | TACACAC | intron_variant | MODIFIER | HG00438.hp1 HG00735.hp1 HG01081.hp1 others(18): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0008a0001c0001t0011a0001c0001t0018others(14): Show | a0001c0001t0008g0123 a0001c0001t0008g0126 a0001c0001t0011g0103 others(18): Show |
21 | 265 | 0.0793 | 6 | c.431 others(23): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 6/40 | chrX | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80750893 | C | CACACAT | intron_variant | MODIFIER | HG02257.hp1 HG02630.hp2 HG02647.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0033a0001c0001t0084others(1): Show | a0001c0001t0022g0156 a0001c0001t0022g0158 a0001c0001t0033g0111 others(3): Show |
6 | 265 | 0.0226 | 6 | c.431 others(23): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 6/40 | chrX | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80751981 | C | CATTATT | intron_variant | MODIFIER | HG00438.hp2 HG02258.hp1 HG02559.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0039a0001c0001t0064a0001c0001t0071others(2): Show | a0001c0001t0039g0202 a0001c0001t0064g0034 a0001c0001t0071g0054 others(2): Show |
5 | 265 | 0.0189 | 6 | c.431 others(23): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 6/40 | chrX | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80752009 | A | ATTATTT | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0082 | a0001c0001t0082g0097 | 1 | 265 | 0.0038 | 6 | c.431 others(23): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 6/40 | chrX | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80809750 | G | GAGGAAA | 5_prime_UTR_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0071 | a0001c0001t0071g0054 | 1 | 265 | 0.0038 | 6 | c.-28 others(15): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 1/41 | 280 | chrX | TogoVar | ||||||
BRWD3_chrX_80664503_80814877 | 80809759 | A | AAGAGAG | 5_prime_UTR_variant | MODIFIER | HG02615.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0082a0001c0001t0083 | a0001c0001t0082g0097 a0001c0001t0083g0096 |
2 | 265 | 0.0076 | 6 | c.-29 others(15): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 1/41 | 289 | chrX | TogoVar | ||||||
BSCL2_chr11_62685275_62712424 | 62696278 | T | TTGTGTG | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG02132.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0002 | a0001c0001t0001g0096 a0001c0001t0001g0176 a0001c0001t0001g0185 others(8): Show |
11 | 330 | 0.0333 | 6 | c.487 others(23): Show |
BSCL2 | ENSG00000168000.16 | transcript | ENST00000360796.10 | protein_coding | 3/10 | chr11 | TogoVar | |||||||
BSCL2_chr11_62685275_62712424 | 62696278 | T | TTTTGTG | intron_variant | MODIFIER | HG01952.hp1 HG01975.hp1 HG01981.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0002t0001a0001c0010t0001 | a0001c0001t0001g0051 a0001c0001t0001g0184 a0001c0002t0001g0012 others(6): Show |
11 | 330 | 0.0333 | 6 | c.487 others(23): Show |
BSCL2 | ENSG00000168000.16 | transcript | ENST00000360796.10 | protein_coding | 3/10 | chr11 | TogoVar | |||||||
BSDC1_chr1_32359633_32399441 | 32360219 | C | CTCTCTT | downstream_gene_variant | MODIFIER | HG01934.hp2 HG02630.hp1 HG02647.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0008 | a0001c0001t0003g0005 a0001c0001t0003g0011 a0001c0001t0003g0031 others(5): Show |
10 | 170 | 0.0588 | 6 | c.*64 others(17): Show |
BSDC1 | ENSG00000160058.19 | transcript | ENST00000455895.7 | protein_coding | 4413 | chr1 | TogoVar | |||||||
BSDC1_chr1_32359633_32399441 | 32398418 | G | GTATATA | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01070.hp2 HG02630.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0010 | a0001c0001t0008g0032 a0001c0001t0008g0038 a0001c0001t0010g0021 |
4 | 170 | 0.0235 | 6 | c.-40 others(17): Show |
BSDC1 | ENSG00000160058.19 | transcript | ENST00000455895.7 | protein_coding | 3978 | chr1 | TogoVar | |||||||
BSG_chr19_567596_588493 | 572086 | C | CATATAT | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01069.hp2 others(12): Show |
a0001a0007a0014 | a0001c0001a0007c0029a0014c0027 | a0001c0001t0003a0001c0001t0005a0007c0029t0005others(1): Show | a0001c0001t0003g0023 a0001c0001t0005g0005 a0001c0001t0005g0040 others(7): Show |
15 | 306 | 0.0490 | 6 | c.-54 others(15): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 509 | chr19 | TogoVar | |||||||
BSG_chr19_567596_588493 | 587506 | C | CTTTTTT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG01099.hp2 HG01109.hp2 others(27): Show |
a0001a0002a0011 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0002t0001a0001c0002t0018others(5): Show | a0001c0001t0003g0073 a0001c0001t0003g0125 a0001c0002t0001g0001 others(26): Show |
30 | 306 | 0.0980 | 6 | c.*47 others(17): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
BSND_chr1_54993933_55022172 | 55001201 | C | CGTGTGT | intron_variant | MODIFIER | HG01168.hp1 HG02257.hp1 HG02895.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0029a0001c0001t0039a0001c0001t0156 | a0001c0001t0029g0032 a0001c0001t0039g0130 a0001c0001t0156g0032 |
4 | 448 | 0.0089 | 6 | c.177 others(23): Show |
BSND | ENSG00000162399.9 | transcript | ENST00000651561.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BSND_chr1_54993933_55022172 | 55017722 | C | CATATAT | downstream_gene_variant | MODIFIER | HG01081.hp1 HG02109.hp1 HG02615.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0025a0001c0001t0071a0001c0001t0134others(3): Show | a0001c0001t0025g0028 a0001c0001t0071g0027 a0001c0001t0134g0001 others(3): Show |
7 | 448 | 0.0156 | 6 | c.*90 others(17): Show |
BSND | ENSG00000162399.9 | transcript | ENST00000651561.1 | protein_coding | 551 | chr1 | TogoVar | |||||||
BSN_chr3_49549477_49676549 | 49589082 | A | ATTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(84): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0017a0001c0027others(22): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(37): Show | a0001c0001t0002g0095 a0001c0001t0002g0102 a0001c0001t0002g0104 others(84): Show |
87 | 186 | 0.4677 | 6 | c.224 others(25): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49613303 | C | CGAGAGA | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG01106.hp2 others(9): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0019others(3): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0012others(8): Show | a0001c0001t0002g0097 a0001c0001t0002g0124 a0001c0001t0011g0125 others(9): Show |
12 | 186 | 0.0645 | 6 | c.225 others(25): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49673801 | C | CCTCACG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(52): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0002c0008others(10): Show | a0001c0001t0003a0002c0002t0001a0002c0002t0005others(11): Show | a0001c0001t0003g0132 a0001c0001t0003g0137 a0001c0001t0003g0153 others(52): Show |
55 | 186 | 0.2957 | 6 | c.*63 others(17): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 2253 | chr3 | TogoVar | |||||||
BSPH1_chr19_47963046_47997170 | 47963893 | C | CTTTCTT | downstream_gene_variant | MODIFIER | HG01081.hp1 HG01243.hp1 HG01258.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001 | a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 others(13): Show |
16 | 444 | 0.0360 | 6 | c.*43 others(17): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 4152 | chr19 | TogoVar | |||||||
BSPH1_chr19_47963046_47997170 | 47969684 | G | GGAGAGA | intron_variant | MODIFIER | HG01261.hp2 HG02109.hp1 HG02572.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0083 a0001c0001t0001g0176 others(6): Show |
10 | 444 | 0.0225 | 6 | c.*3- others(21): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
BSPH1_chr19_47963046_47997170 | 47973218 | A | AAATAAT | intron_variant | MODIFIER | HG01358.hp2 HG01496.hp2 HG01928.hp1 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0094 a0001c0001t0001g0224 a0001c0001t0001g0246 others(23): Show |
26 | 444 | 0.0586 | 6 | c.*2+ others(21): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
BSPH1_chr19_47963046_47997170 | 47974269 | C | CTCTCTT | intron_variant | MODIFIER | HG00735.hp1 HG01884.hp2 HG03098.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0002c0002t0001a0002c0003t0001 | a0001c0001t0001g0152 a0001c0001t0001g0255 a0001c0001t0001g0256 others(6): Show |
9 | 444 | 0.0203 | 6 | c.*2+ others(21): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
BSPH1_chr19_47963046_47997170 | 47978001 | G | GATATAT | intron_variant | MODIFIER | HG00544.hp1 HG00642.hp1 HG00673.hp2 others(34): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0110 a0001c0001t0001g0125 a0001c0001t0001g0136 others(34): Show |
37 | 444 | 0.0833 | 6 | c.125 others(21): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 3/5 | chr19 | TogoVar | |||||||
BSPH1_chr19_47963046_47997170 | 47986751 | A | AAAAAAT | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG01069.hp1 others(31): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0225 a0001c0001t0001g0254 others(23): Show |
34 | 444 | 0.0766 | 6 | c.73+ others(21): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
BSPH1_chr19_47963046_47997170 | 47989110 | T | TTTATTA | intron_variant | MODIFIER | NA18966.hp2 NA19005.hp1 NA19088.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(1): Show |
4 | 444 | 0.0090 | 6 | c.73+ others(21): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
BSPH1_chr19_47963046_47997170 | 47989110 | T | TTTTTTA | intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01168.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0008 a0001c0001t0001g0312 a0001c0001t0001g0313 others(3): Show |
7 | 444 | 0.0158 | 6 | c.73+ others(21): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
BSPRY_chr9_113344541_113376222 | 113365733 | A | AAGAGAG | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00741.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0032a0001c0002t0001others(6): Show | a0001c0001t0004g0025 a0001c0001t0032g0025 a0001c0002t0001g0034 others(14): Show |
25 | 448 | 0.0558 | 6 | c.558 others(23): Show |
BSPRY | ENSG00000119411.11 | transcript | ENST00000374183.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
BST1_chr4_15698065_15737787 | 15698713 | G | GTATATA | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00673.hp1 others(49): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0002c0002others(5): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 others(42): Show |
52 | 442 | 0.1177 | 6 | c.-44 others(17): Show |
BST1 | ENSG00000109743.11 | transcript | ENST00000265016.9 | protein_coding | 4351 | chr4 | TogoVar | |||||||
BST1_chr4_15698065_15737787 | 15700410 | C | CTTTTTT | upstream_gene_variant | MODIFIER | HG00621.hp1 HG01243.hp2 HG02257.hp1 others(13): Show |
a0001a0002a0012 | a0001c0001a0001c0010a0001c0025others(4): Show | a0001c0001t0001a0001c0010t0001a0001c0025t0001others(4): Show | a0001c0001t0001g0105 a0001c0001t0001g0123 a0001c0001t0001g0124 others(12): Show |
16 | 442 | 0.0362 | 6 | c.-27 others(17): Show |
BST1 | ENSG00000109743.11 | transcript | ENST00000265016.9 | protein_coding | 2654 | chr4 | TogoVar | |||||||
BST1_chr4_15698065_15737787 | 15707834 | A | ACTCTCT | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00621.hp1 others(39): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0001c0010others(7): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0007others(10): Show | a0001c0001t0001g0050 a0001c0001t0001g0219 a0001c0001t0001g0221 others(32): Show |
42 | 442 | 0.0950 | 6 | c.451 others(21): Show |
BST1 | ENSG00000109743.11 | transcript | ENST00000265016.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BST1_chr4_15698065_15737787 | 15707855 | C | CTCTATA | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG01975.hp2 others(7): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0001 | a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 others(7): Show |
10 | 442 | 0.0226 | 6 | c.451 others(21): Show |
BST1 | ENSG00000109743.11 | transcript | ENST00000265016.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BST1_chr4_15698065_15737787 | 15707855 | C | CTCTCTA | intron_variant | MODIFIER | HG00639.hp2 HG00673.hp1 HG00733.hp2 others(20): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0004t0002others(4): Show | a0001c0001t0001g0018 a0001c0001t0001g0049 a0001c0001t0001g0259 others(16): Show |
23 | 442 | 0.0520 | 6 | c.451 others(21): Show |
BST1 | ENSG00000109743.11 | transcript | ENST00000265016.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BST1_chr4_15698065_15737787 | 15718244 | A | AGTGTGT | intron_variant | MODIFIER | HG03139.hp2 HG03491.hp1 NA19064.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0261 a0002c0002t0001g0186 a0002c0002t0001g0190 others(1): Show |
4 | 442 | 0.0091 | 6 | c.705 others(21): Show |
BST1 | ENSG00000109743.11 | transcript | ENST00000265016.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BST2_chr19_17397939_17410630 | 17410497 | C | CATATAT | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00642.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0003g0003 a0001c0001t0003g0009 |
8 | 412 | 0.0194 | 6 | c.-49 others(17): Show |
BST2 | ENSG00000130303.14 | transcript | ENST00000252593.7 | protein_coding | 4868 | chr19 | TogoVar | |||||||
BST2_chr19_17397939_17410630 | 17410502 | A | ATGTGTG | upstream_gene_variant | MODIFIER | HG02523.hp1 HG02698.hp1 NA18951.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0002a0004c0008t0002 | a0001c0001t0002g0004 a0001c0001t0002g0007 a0004c0008t0002g0034 |
6 | 412 | 0.0146 | 6 | c.-49 others(17): Show |
BST2 | ENSG00000130303.14 | transcript | ENST00000252593.7 | protein_coding | 4873 | chr19 | TogoVar | |||||||
BST2_chr19_17397939_17410630 | 17410559 | T | TATATAC | upstream_gene_variant | MODIFIER | HG02258.hp2 HG02922.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 412 | 0.0073 | 6 | c.-49 others(17): Show |
BST2 | ENSG00000130303.14 | transcript | ENST00000252593.7 | protein_coding | 4930 | chr19 | TogoVar | |||||||
BST2_chr19_17397939_17410630 | 17410575 | T | TATACAC | upstream_gene_variant | MODIFIER | HG00280.hp1 HG01496.hp1 HG02109.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0006 | a0001c0001t0004g0005 a0001c0002t0006g0010 |
11 | 412 | 0.0267 | 6 | c.-50 others(17): Show |
BST2 | ENSG00000130303.14 | transcript | ENST00000252593.7 | protein_coding | 4946 | chr19 | TogoVar |