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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BRWD1_chr21_39180482_39318632 | 39248641 | C | CAAA | intron_variant | MODIFIER | HG00544.hp2 HG02602.hp2 HG04228.hp2 others(3): Show |
a0002a0009a0015 | a0002c0002a0009c0017a0015c0019 | a0002c0002t0001a0009c0017t0001a0015c0019t0050 | a0002c0002t0001g0193 a0002c0002t0001g0198 a0002c0002t0001g0205 others(3): Show |
6 | 338 | 0.0178 | 3 | c.235 others(20): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 20/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39252249 | C | CAAA | intron_variant | MODIFIER | HG00741.hp2 HG01106.hp2 HG01884.hp1 others(9): Show |
a0001a0013 | a0001c0001a0013c0024 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0050 a0001c0001t0003g0305 a0001c0001t0003g0308 others(9): Show |
12 | 338 | 0.0355 | 3 | c.225 others(22): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 19/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39253286 | C | CAAA | intron_variant | MODIFIER | HG01070.hp2 HG01891.hp1 HG02055.hp1 others(3): Show |
a0003 | a0003c0004a0003c0005 | a0003c0004t0005a0003c0004t0030a0003c0005t0007 | a0003c0004t0005g0123 a0003c0004t0005g0125 a0003c0004t0005g0130 others(3): Show |
6 | 338 | 0.0178 | 3 | c.225 others(22): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 19/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39294484 | T | TGTC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(263): Show |
a0001a0003a0004others(11): Show | a0001c0001a0001c0008a0001c0022others(19): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(71): Show | a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 others(263): Show |
266 | 338 | 0.7870 | 3 | c.610 others(18): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 7/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39301978 | G | GTTT | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00733.hp1 others(42): Show |
a0001a0004a0010others(2): Show | a0001c0001a0001c0008a0001c0022others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0002g0021 a0001c0001t0002g0024 a0001c0001t0002g0036 others(42): Show |
45 | 338 | 0.1331 | 3 | c.199 others(20): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 4/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39304141 | C | CAAA | intron_variant | MODIFIER | HG00280.hp2 HG01070.hp2 HG01074.hp1 others(12): Show |
a0003 | a0003c0004 | a0003c0004t0005a0003c0004t0014a0003c0004t0030 | a0003c0004t0005g0098 a0003c0004t0005g0123 a0003c0004t0005g0124 others(12): Show |
15 | 338 | 0.0444 | 3 | c.199 others(20): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 4/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39304957 | A | ATTT | intron_variant | MODIFIER | HG00741.hp1 HG01981.hp1 HG02145.hp2 others(22): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0016a0004c0003others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0002g0020 a0001c0001t0002g0049 a0001c0001t0002g0050 others(22): Show |
25 | 338 | 0.0740 | 3 | c.199 others(20): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 4/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39312974 | C | CCGG | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(66): Show |
a0001a0013 | a0001c0001a0001c0008a0001c0022others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0016others(14): Show | a0001c0001t0003g0270 a0001c0001t0003g0293 a0001c0001t0003g0294 others(66): Show |
69 | 338 | 0.2041 | 3 | c.139 others(16): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 3/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39313589 | G | GCGC | 5_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(83): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0001c0022others(7): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0015others(21): Show | a0001c0001t0003g0270 a0001c0001t0003g0291 a0001c0001t0003g0293 others(83): Show |
86 | 338 | 0.2544 | 3 | c.-10 others(11): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 1/41 | 99 | chr21 | TogoVar | ||||||
BRWD3_chrX_80664503_80814877 | 80667142 | A | ACCC | downstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0004 | 1 | 265 | 0.0038 | 3 | c.*94 others(14): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 2360 | chrX | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80668679 | A | AAGT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0050a0001c0001t0052a0001c0001t0055others(15): Show | a0001c0001t0050g0009 a0001c0001t0052g0013 a0001c0001t0055g0014 others(15): Show |
18 | 265 | 0.0679 | 3 | c.*79 others(14): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 823 | chrX | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80744297 | T | TCAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(260): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(163): Show | a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 others(260): Show |
263 | 265 | 0.9925 | 3 | c.592 others(16): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 7/40 | chrX | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80750893 | C | CACA | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0072 | a0001c0001t0072g0055 | 1 | 265 | 0.0038 | 3 | c.431 others(20): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 6/40 | chrX | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80751981 | C | CATT | intron_variant | MODIFIER | HG00735.hp1 HG01258.hp1 HG02055.hp1 others(17): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0003a0001c0001t0005a0001c0001t0022others(17): Show | a0001c0001t0003g0243 a0001c0001t0005g0116 a0001c0001t0022g0156 others(17): Show |
20 | 265 | 0.0755 | 3 | c.431 others(20): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 6/40 | chrX | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80756502 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(107): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(65): Show | a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 others(107): Show |
110 | 265 | 0.4151 | 3 | c.431 others(22): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 6/40 | chrX | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80790193 | C | CAAA | intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0024 | 1 | 265 | 0.0038 | 3 | c.430 others(20): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 6/40 | chrX | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80793160 | C | CAAA | intron_variant | MODIFIER | HG00438.hp2 HG00733.hp1 HG01168.hp1 others(40): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0237 a0001c0001t0003g0240 a0001c0001t0003g0245 others(40): Show |
43 | 265 | 0.1623 | 3 | c.331 others(18): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 5/40 | chrX | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80802442 | T | TAAA | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0203 | 1 | 265 | 0.0038 | 3 | c.180 others(20): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 4/40 | chrX | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80808773 | G | GGGA | intron_variant | MODIFIER | HG00738.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0100a0001c0001t0116 | a0001c0001t0100g0153 a0001c0001t0116g0174 |
2 | 265 | 0.0076 | 3 | c.121 others(18): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 3/40 | chrX | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80809752 | G | GGAA | 5_prime_UTR_variant | MODIFIER | HG02040.hp1 HG02602.hp1 |
a0001 | a0001c0001 | a0001c0001t0130a0001c0001t0159 | a0001c0001t0130g0192 a0001c0001t0159g0262 |
2 | 265 | 0.0076 | 3 | c.-28 others(12): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 1/41 | 282 | chrX | TogoVar | ||||||
BRWD3_chrX_80664503_80814877 | 80809757 | A | AGAG | 5_prime_UTR_variant | MODIFIER | HG01884.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0092 a0001c0001t0031g0093 |
2 | 265 | 0.0076 | 3 | c.-28 others(12): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 1/41 | 287 | chrX | TogoVar | ||||||
BRWD3_chrX_80664503_80814877 | 80809759 | A | AGAG | 5_prime_UTR_variant | MODIFIER | HG00733.hp1 HG02015.hp1 HG02630.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0033a0001c0001t0034others(6): Show | a0001c0001t0005g0112 a0001c0001t0005g0116 a0001c0001t0005g0117 others(14): Show |
17 | 265 | 0.0642 | 3 | c.-28 others(12): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 1/41 | 289 | chrX | TogoVar | ||||||
BRWD3_chrX_80664503_80814877 | 80813581 | A | AGCC | upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0100 | a0001c0001t0100g0153 | 1 | 265 | 0.0038 | 3 | c.-41 others(14): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 3705 | chrX | TogoVar | |||||||
BSDC1_chr1_32359633_32399441 | 32360899 | A | AGAT | downstream_gene_variant | MODIFIER | HG02809.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0122 a0001c0001t0009g0022 |
2 | 170 | 0.0118 | 3 | c.*57 others(14): Show |
BSDC1 | ENSG00000160058.19 | transcript | ENST00000455895.7 | protein_coding | 3733 | chr1 | TogoVar | |||||||
BSG_chr19_567596_588493 | 568299 | C | CTTT | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG01109.hp1 others(14): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0007a0001c0002t0001others(3): Show | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0011 others(13): Show |
17 | 306 | 0.0556 | 3 | c.-43 others(14): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 4296 | chr19 | TogoVar | |||||||
BSG_chr19_567596_588493 | 576760 | A | AAAG | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01069.hp2 others(43): Show |
a0001a0005a0007others(1): Show | a0001c0001a0001c0022a0005c0009others(2): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0017others(7): Show | a0001c0001t0003g0013 a0001c0001t0003g0022 a0001c0001t0003g0023 others(33): Show |
46 | 306 | 0.1503 | 3 | c.68- others(18): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BSG_chr19_567596_588493 | 580887 | C | CAAG | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00544.hp2 others(51): Show |
a0001a0017 | a0001c0003a0001c0021a0017c0020 | a0001c0003t0001a0001c0003t0004a0001c0003t0006others(6): Show | a0001c0003t0001g0058 a0001c0003t0001g0066 a0001c0003t0001g0082 others(30): Show |
54 | 306 | 0.1765 | 3 | c.792 others(18): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 5/8 | chr19 | TogoVar | |||||||
BSG_chr19_567596_588493 | 586285 | C | CTTT | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02257.hp1 HG02630.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0005a0001c0001t0011others(2): Show | a0001c0001t0003g0022 a0001c0001t0003g0043 a0001c0001t0003g0048 others(7): Show |
10 | 306 | 0.0327 | 3 | c.*35 others(14): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 2793 | chr19 | TogoVar | |||||||
BSND_chr1_54993933_55022172 | 54996837 | C | CTTT | upstream_gene_variant | MODIFIER | HG00738.hp2 HG02723.hp2 HG02896.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0028a0001c0003t0059a0001c0003t0186 | a0001c0003t0028g0024 a0001c0003t0028g0126 a0001c0003t0028g0127 others(2): Show |
6 | 448 | 0.0134 | 3 | c.-23 others(14): Show |
BSND | ENSG00000162399.9 | transcript | ENST00000651561.1 | protein_coding | 2095 | chr1 | TogoVar | |||||||
BSN_chr3_49549477_49676549 | 49557558 | T | TGGA | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG00735.hp1 others(6): Show |
a0002 | a0002c0002a0002c0008 | a0002c0002t0001a0002c0008t0001 | a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0170 others(6): Show |
9 | 186 | 0.0484 | 3 | c.224 others(20): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49574132 | A | ATTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(55): Show |
a0001a0002a0005others(7): Show | a0001c0001a0001c0016a0002c0002others(11): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(16): Show | a0001c0001t0002g0135 a0001c0001t0002g0139 a0001c0001t0002g0140 others(55): Show |
58 | 186 | 0.3118 | 3 | c.224 others(22): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49605556 | A | ATTT | intron_variant | MODIFIER | HG03942.hp1 NA19003.hp2 |
a0001 | a0001c0001a0001c0017 | a0001c0001t0002a0001c0017t0002 | a0001c0001t0002g0140 a0001c0017t0002g0106 |
2 | 186 | 0.0108 | 3 | c.225 others(22): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | chr3 | TogoVar | |||||||
BSN_chr3_49549477_49676549 | 49610584 | C | CAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(65): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0016a0001c0017others(17): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(26): Show | a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0104 others(65): Show |
68 | 186 | 0.3656 | 3 | c.225 others(22): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49612139 | A | ATTT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00733.hp2 others(4): Show |
a0001a0004 | a0001c0001a0004c0006a0004c0022 | a0001c0001t0002a0001c0001t0012a0004c0006t0002others(1): Show | a0001c0001t0002g0112 a0001c0001t0002g0151 a0001c0001t0002g0177 others(4): Show |
7 | 186 | 0.0376 | 3 | c.225 others(22): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49614051 | C | CTTT | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01515.hp1 others(2): Show |
a0002 | a0002c0002a0002c0008 | a0002c0002t0001a0002c0008t0001 | a0002c0002t0001g0170 a0002c0002t0001g0174 a0002c0002t0001g0175 others(2): Show |
5 | 186 | 0.0269 | 3 | c.225 others(22): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BSPH1_chr19_47963046_47997170 | 47968681 | T | TAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(119): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0257 others(113): Show |
122 | 444 | 0.2748 | 3 | c.*3- others(16): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
BSPH1_chr19_47963046_47997170 | 47972009 | T | TATC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(278): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0079 a0001c0001t0001g0080 others(269): Show |
281 | 444 | 0.6329 | 3 | c.*3- others(18): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
BSPH1_chr19_47963046_47997170 | 47973218 | A | AAAT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(183): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0087 others(176): Show |
186 | 444 | 0.4189 | 3 | c.*2+ others(18): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
BSPH1_chr19_47963046_47997170 | 47976516 | A | ATTT | intron_variant | MODIFIER | HG00099.hp1 HG00597.hp1 HG00735.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0118 a0001c0001t0001g0347 a0001c0001t0001g0348 others(28): Show |
31 | 444 | 0.0698 | 3 | c.*2+ others(16): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
BSPH1_chr19_47963046_47997170 | 47976582 | G | GAAA | intron_variant | MODIFIER | HG00609.hp1 HG01123.hp2 HG01243.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0394 others(8): Show |
11 | 444 | 0.0248 | 3 | c.*2+ others(16): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
BSPH1_chr19_47963046_47997170 | 47989108 | G | GTTT | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG02683.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0306 others(1): Show |
4 | 444 | 0.0090 | 3 | c.73+ others(18): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
BSPH1_chr19_47963046_47997170 | 47989110 | T | TTTA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00673.hp2 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 others(40): Show |
44 | 444 | 0.0991 | 3 | c.73+ others(18): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
BSPH1_chr19_47963046_47997170 | 47991560 | A | ATCC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(279): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(266): Show |
282 | 444 | 0.6351 | 3 | c.73+ others(16): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
BSPH1_chr19_47963046_47997170 | 47991653 | C | CCTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(214): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(202): Show |
217 | 444 | 0.4887 | 3 | c.73+ others(16): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
BSPRY_chr9_113344541_113376222 | 113363876 | C | CAAA | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp2 NA18948.hp1 others(8): Show |
a0001a0003 | a0001c0002a0003c0008 | a0001c0002t0003a0001c0002t0005a0001c0002t0007others(1): Show | a0001c0002t0003g0054 a0001c0002t0003g0055 a0001c0002t0003g0255 others(6): Show |
11 | 448 | 0.0246 | 3 | c.557 others(20): Show |
BSPRY | ENSG00000119411.11 | transcript | ENST00000374183.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
BST1_chr4_15698065_15737787 | 15726136 | G | GTTT | intron_variant | MODIFIER | HG01109.hp2 HG02109.hp1 HG02145.hp2 others(16): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0016a0001c0025others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0001g0046 a0001c0001t0001g0126 a0001c0001t0001g0128 others(15): Show |
19 | 442 | 0.0430 | 3 | c.851 others(20): Show |
BST1 | ENSG00000109743.11 | transcript | ENST00000265016.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BST2_chr19_17397939_17410630 | 17403837 | T | TGGG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(336): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0015 others(27): Show |
339 | 412 | 0.8228 | 3 | c.414 others(16): Show |
BST2 | ENSG00000130303.14 | transcript | ENST00000252593.7 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
BST2_chr19_17397939_17410630 | 17408829 | C | CTTT | upstream_gene_variant | MODIFIER | HG00423.hp2 HG01175.hp1 HG02109.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 7 | 412 | 0.0170 | 3 | c.-32 others(14): Show |
BST2 | ENSG00000130303.14 | transcript | ENST00000252593.7 | protein_coding | 3200 | chr19 | TogoVar | |||||||
BTAF1_chr10_91918770_92036437 | 91950147 | G | GTGT | intron_variant | MODIFIER | HG00140.hp2 HG00673.hp2 HG01069.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0198 others(10): Show |
13 | 330 | 0.0394 | 3 | c.401 others(20): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BTAF1_chr10_91918770_92036437 | 91950832 | A | ATTT | intron_variant | MODIFIER | HG00735.hp1 HG01192.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0012a0001c0003t0001 | a0001c0001t0001g0100 a0001c0001t0001g0118 a0001c0001t0001g0122 others(3): Show |
6 | 330 | 0.0182 | 3 | c.401 others(18): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |