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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BRD8_chr5_138134770_138183630 | 138144914 | A | ATATAT | intron_variant | MODIFIER | HG02280.hp1 HG02559.hp2 HG03225.hp2 others(1): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0121a0004c0005t0001g0124a0004c0005t0001g0125others(1): Show | 4 | 378 | 0.0106 | 5 | c.343 others(22): Show |
BRD8 | ENSG00000112983.18 | transcript | ENST00000254900.10 | protein_coding | 25/26 | chr5 | TogoVar | ||||||
BRD9_chr5_858741_897801 | 872105 | T | TGGGCC | intron_variant | MODIFIER | HG02809.hp2 HG02886.hp1 NA19043.hp2 |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0080a0001c0005t0002g0086a0001c0005t0002g0088 | 3 | 364 | 0.0082 | 5 | c.138 others(22): Show |
BRD9 | ENSG00000028310.18 | transcript | ENST00000467963.6 | protein_coding | 12/15 | chr5 | TogoVar | ||||||
BRD9_chr5_858741_897801 | 874148 | C | CCTAGA | intron_variant | MODIFIER | HG01261.hp2 HG01884.hp1 HG02280.hp2 others(7): Show |
a0002 | a0002c0003a0002c0012 | a0002c0003t0008a0002c0003t0010a0002c0003t0012others(1): Show | a0002c0003t0008g0183a0002c0003t0008g0184a0002c0003t0008g0185others(7): Show | 10 | 364 | 0.0275 | 5 | c.138 others(24): Show |
BRD9 | ENSG00000028310.18 | transcript | ENST00000467963.6 | protein_coding | 12/15 | chr5 | TogoVar | ||||||
BRDT_chr1_91944401_92019421 | 91979011 | A | AAAAAC | intron_variant | MODIFIER | HG01891.hp2 HG02630.hp2 HG06807.hp2 others(4): Show |
a0001a0010 | a0001c0001a0010c0007 | a0001c0001t0003a0010c0007t0003 | a0001c0001t0003g0007a0001c0001t0003g0010a0001c0001t0003g0011others(4): Show | 7 | 318 | 0.0220 | 5 | c.109 others(22): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BRDT_chr1_91944401_92019421 | 92009545 | C | CTTTTT | intron_variant | MODIFIER | HG04115.hp1 NA18942.hp2 NA18968.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0140a0001c0001t0001g0223a0001c0001t0001g0241others(5): Show | 8 | 318 | 0.0252 | 5 | c.277 others(24): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BRF1_chr14_105204286_105306001 | 105304493 | T | TAAATA | upstream_gene_variant | MODIFIER | NA19043.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0031a0001c0001t0002g0041 | 2 | 72 | 0.0278 | 5 | c.-38 others(16): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 3493 | chr14 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 125002326 | C | CAAGGT | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG01081.hp2 others(30): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0267a0001c0001t0001g0269others(28): Show | 33 | 410 | 0.0805 | 5 | c.213 others(22): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BRI3BP_chr12_124988645_125036231 | 125009283 | C | CTTTTT | intron_variant | MODIFIER | HG01099.hp2 HG01243.hp2 HG01256.hp2 others(15): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0001c0001t0010a0001c0001t0098others(9): Show | a0001c0001t0002g0014a0001c0001t0010g0401a0001c0001t0010g0402others(15): Show | 18 | 410 | 0.0439 | 5 | c.214 others(22): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BRI3_chr7_98276686_98296545 | 98280245 | A | AGATAT | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG01891.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0015others(4): Show | 14 | 414 | 0.0338 | 5 | c.-15 others(16): Show |
BRI3 | ENSG00000164713.10 | transcript | ENST00000297290.4 | protein_coding | 1440 | chr7 | TogoVar | ||||||
BRI3_chr7_98276686_98296545 | 98281488 | C | CGGCGG | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00438.hp1 others(136): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(36): Show | 139 | 414 | 0.3358 | 5 | c.-30 others(14): Show |
BRI3 | ENSG00000164713.10 | transcript | ENST00000297290.4 | protein_coding | 197 | chr7 | TogoVar | ||||||
BRINP1_chr9_119161629_119374435 | 119172871 | A | AACAAT | intron_variant | MODIFIER | HG01169.hp2 HG02572.hp1 HG03486.hp1 others(4): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0003t0002a0001c0004t0001 | a0001c0003t0001g0020a0001c0003t0001g0178a0001c0003t0002g0223others(4): Show | 7 | 236 | 0.0297 | 5 | c.114 others(24): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 7/7 | chr9 | TogoVar | ||||||
BRINP1_chr9_119161629_119374435 | 119263601 | C | CTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG00738.hp1 HG00741.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0023a0001c0001t0002g0229a0001c0002t0001g0057others(22): Show | 25 | 236 | 0.1059 | 5 | c.219 others(24): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 2/7 | chr9 | TogoVar | ||||||
BRINP1_chr9_119161629_119374435 | 119318844 | G | GGGGGT | intron_variant | MODIFIER | HG00099.hp1 HG01099.hp1 HG01981.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0033a0001c0001t0001g0034a0001c0001t0001g0035others(12): Show | 15 | 236 | 0.0636 | 5 | c.-50 others(22): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 1/7 | chr9 | TogoVar | ||||||
BRINP1_chr9_119161629_119374435 | 119318844 | G | GGGTGT | intron_variant | MODIFIER | HG01261.hp2 HG01884.hp2 HG02135.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0078a0001c0001t0001g0090a0001c0003t0001g0208others(1): Show | 4 | 236 | 0.0170 | 5 | c.-50 others(22): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 1/7 | chr9 | TogoVar | ||||||
BRINP2_chr1_177165958_177287422 | 177177650 | A | ACTACT | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00544.hp2 others(63): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0011a0001c0001t0001g0177a0001c0001t0001g0178others(62): Show | 66 | 252 | 0.2619 | 5 | c.-77 others(22): Show |
BRINP2 | ENSG00000198797.7 | transcript | ENST00000361539.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BRINP3_chr1_190092658_190482864 | 190111182 | T | TAAAAA | intron_variant | MODIFIER | HG02280.hp2 HG02572.hp1 HG02572.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0161a0001c0001t0001g0200a0001c0001t0002g0229others(2): Show | 5 | 240 | 0.0208 | 5 | c.118 others(26): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 7/7 | chr1 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190381268 | C | CCAAAA | intron_variant | MODIFIER | HG01361.hp1 HG01517.hp2 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0072a0001c0001t0001g0075 | 3 | 240 | 0.0125 | 5 | c.236 others(24): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190421316 | A | ATTATT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00609.hp1 others(79): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0009 | a0001c0001t0001g0014a0001c0001t0001g0026a0001c0001t0001g0027others(79): Show | 82 | 240 | 0.3417 | 5 | c.236 others(24): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190444239 | C | CAAAAA | intron_variant | MODIFIER | HG01099.hp2 HG01934.hp1 HG01934.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0035a0001c0001t0001g0039others(12): Show | 15 | 240 | 0.0625 | 5 | c.236 others(24): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190453203 | A | ATTTTT | intron_variant | MODIFIER | HG00741.hp1 HG01074.hp2 HG01361.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011others(10): Show | 13 | 240 | 0.0542 | 5 | c.236 others(22): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
BRIP1_chr17_61674139_61868528 | 61680480 | C | CTTTTT | 3_prime_UTR_variant | MODIFIER | HG02027.hp2 HG02572.hp1 HG02683.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0027a0001c0001t0051 | a0001c0001t0011g0037a0001c0001t0011g0046a0001c0001t0011g0095others(4): Show | 7 | 266 | 0.0263 | 5 | c.*28 others(16): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 20/20 | 2815 | chr17 | TogoVar | |||||
BRK1_chr3_10110675_10132190 | 10118252 | C | CAAAAA | intron_variant | MODIFIER | HG00558.hp1 HG00639.hp2 HG01081.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005 | a0001c0001t0002g0006a0001c0001t0002g0038a0001c0001t0002g0059others(28): Show | 41 | 356 | 0.1152 | 5 | c.118 others(22): Show |
BRK1 | ENSG00000254999.4 | transcript | ENST00000530758.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BRMS1L_chr14_35821338_35876963 | 35846217 | T | TCAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(107): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0012others(88): Show | 110 | 374 | 0.2941 | 5 | c.441 others(24): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BRMS1L_chr14_35821338_35876963 | 35874213 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00621.hp2 HG01175.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0009 | a0001c0001t0001g0004a0001c0001t0001g0012a0001c0001t0001g0033others(22): Show | 32 | 374 | 0.0856 | 5 | c.*37 others(16): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 2251 | chr14 | TogoVar | ||||||
BROX_chr1_222707564_222740187 | 222735582 | C | CCTTGA | downstream_gene_variant | MODIFIER | HG00438.hp1 HG02602.hp2 HG03942.hp1 |
a0001 | a0001c0004 | a0001c0004t0013 | a0001c0004t0013g0132a0001c0004t0013g0133a0001c0004t0013g0134 | 3 | 386 | 0.0078 | 5 | c.*28 others(16): Show |
BROX | ENSG00000162819.12 | transcript | ENST00000340934.10 | protein_coding | 396 | chr1 | TogoVar | ||||||
BROX_chr1_222707564_222740187 | 222738564 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG01192.hp1 HG01361.hp1 HG02257.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0009a0001c0001t0003g0025a0001c0001t0003g0026others(4): Show | 10 | 386 | 0.0259 | 5 | c.*58 others(16): Show |
BROX | ENSG00000162819.12 | transcript | ENST00000340934.10 | protein_coding | 3378 | chr1 | TogoVar | ||||||
BRS3_chrX_136482947_136498780 | 136491913 | G | GTTTTT | intron_variant | MODIFIER | HG01168.hp2 HG01175.hp1 HG01175.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005a0001c0001t0001g0036a0001c0001t0002g0030 | 16 | 280 | 0.0571 | 5 | c.787 others(18): Show |
BRS3 | ENSG00000102239.5 | transcript | ENST00000370648.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BRS3_chrX_136482947_136498780 | 136493333 | T | TTTCTA | 3_prime_UTR_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0035 | 1 | 280 | 0.0036 | 5 | c.*95 others(14): Show |
BRS3 | ENSG00000102239.5 | transcript | ENST00000370648.4 | protein_coding | 3/3 | 959 | chrX | TogoVar | |||||
BRSK2_chr11_1384934_1467689 | 1446379 | A | AGGGCT | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00642.hp2 others(27): Show |
a0001a0002 | a0001c0003a0001c0004a0001c0015others(1): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0004others(8): Show | a0001c0003t0001g0070a0001c0003t0001g0114a0001c0003t0001g0115others(27): Show | 30 | 360 | 0.0833 | 5 | c.122 others(22): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BRWD1_chr21_39180482_39318632 | 39192880 | A | ATTTAG | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG01070.hp2 others(62): Show |
a0003a0006 | a0003c0004a0003c0005a0003c0011others(2): Show | a0003c0004t0005a0003c0004t0010a0003c0004t0014others(11): Show | a0003c0004t0005g0091a0003c0004t0005g0096a0003c0004t0005g0097others(62): Show | 65 | 338 | 0.1923 | 5 | c.*33 others(16): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 41/41 | 3378 | chr21 | TogoVar | |||||
BRWD1_chr21_39180482_39318632 | 39292128 | G | GGGGGT | intron_variant | MODIFIER | HG01070.hp2 HG01081.hp2 HG01099.hp2 others(3): Show |
a0003 | a0003c0004 | a0003c0004t0005a0003c0004t0010a0003c0004t0014others(1): Show | a0003c0004t0005g0098a0003c0004t0005g0122a0003c0004t0005g0132others(3): Show | 6 | 338 | 0.0178 | 5 | c.831 others(22): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 8/40 | chr21 | TogoVar | ||||||
BRWD3_chrX_80664503_80814877 | 80703442 | A | AGGCTC | intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 265 | 0.0038 | 5 | c.283 others(20): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 24/40 | chrX | TogoVar | ||||||
BRWD3_chrX_80664503_80814877 | 80730713 | A | AGTGAT | intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0125 | a0001c0001t0125g0185 | 1 | 265 | 0.0038 | 5 | c.112 others(22): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 12/40 | chrX | TogoVar | ||||||
BRWD3_chrX_80664503_80814877 | 80740730 | C | CAACAA | intron_variant | MODIFIER | HG04199.hp1 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0046a0001c0001t0133 | a0001c0001t0046g0005a0001c0001t0133g0198 | 2 | 265 | 0.0076 | 5 | c.813 others(22): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 8/40 | chrX | TogoVar | ||||||
BRWD3_chrX_80664503_80814877 | 80756502 | C | CAAAAA | intron_variant | MODIFIER | HG02683.hp2 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0080a0001c0001t0124 | a0001c0001t0080g0077a0001c0001t0124g0184 | 2 | 265 | 0.0076 | 5 | c.431 others(24): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 6/40 | chrX | TogoVar | ||||||
BRWD3_chrX_80664503_80814877 | 80809752 | G | GGAAAA | 5_prime_UTR_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG00621.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0016others(7): Show | a0001c0001t0004g0079a0001c0001t0004g0080a0001c0001t0004g0081others(18): Show | 21 | 265 | 0.0793 | 5 | c.-28 others(14): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 1/41 | 282 | chrX | TogoVar | |||||
BRWD3_chrX_80664503_80814877 | 80809759 | A | AGAGAG | 5_prime_UTR_variant | MODIFIER | NA18994.hp1 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0094a0001c0001t0032g0095 | 2 | 265 | 0.0076 | 5 | c.-28 others(14): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 1/41 | 289 | chrX | TogoVar | |||||
BRWD3_chrX_80664503_80814877 | 80812165 | C | CAGGAA | upstream_gene_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0157 | a0001c0001t0157g0260 | 1 | 265 | 0.0038 | 5 | c.-26 others(16): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 2289 | chrX | TogoVar | ||||||
BSG_chr19_567596_588493 | 570619 | C | CGGGTG | upstream_gene_variant | MODIFIER | HG01243.hp2 HG01255.hp2 HG01975.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0001a0001c0003t0004others(1): Show | a0001c0001t0002g0004a0001c0001t0002g0011a0001c0002t0001g0010others(3): Show | 6 | 306 | 0.0196 | 5 | c.-20 others(16): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1976 | chr19 | TogoVar | ||||||
BSG_chr19_567596_588493 | 573070 | A | ATCTCG | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00621.hp2 others(47): Show |
a0001 | a0001c0001a0001c0003a0001c0010others(1): Show | a0001c0001t0003a0001c0001t0023a0001c0003t0001others(8): Show | a0001c0001t0003g0051a0001c0001t0003g0069a0001c0001t0023g0068others(29): Show | 50 | 306 | 0.1634 | 5 | c.67+ others(18): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1/8 | chr19 | TogoVar | ||||||
BSG_chr19_567596_588493 | 586285 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01069.hp2 others(11): Show |
a0001a0006 | a0001c0001a0006c0019 | a0001c0001t0005a0006c0019t0005 | a0001c0001t0005g0005a0001c0001t0005g0040a0001c0001t0005g0076others(5): Show | 14 | 306 | 0.0458 | 5 | c.*35 others(16): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 2793 | chr19 | TogoVar | ||||||
BSG_chr19_567596_588493 | 587506 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(121): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0023others(22): Show | a0001c0001t0003g0021a0001c0001t0003g0097a0001c0001t0003g0165others(77): Show | 124 | 306 | 0.4052 | 5 | c.*47 others(16): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 4014 | chr19 | TogoVar | ||||||
BSND_chr1_54993933_55022172 | 54996837 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01891.hp2 HG03453.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0058a0001c0001t0147others(2): Show | a0001c0001t0017g0013a0001c0001t0058g0042a0001c0001t0147g0157others(2): Show | 6 | 448 | 0.0134 | 5 | c.-23 others(16): Show |
BSND | ENSG00000162399.9 | transcript | ENST00000651561.1 | protein_coding | 2095 | chr1 | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49587887 | T | TTTTTC | intron_variant | MODIFIER | HG00735.hp2 HG01069.hp2 HG01070.hp1 others(18): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0016a0002c0002others(6): Show | a0001c0001t0007a0001c0001t0018a0001c0016t0003others(8): Show | a0001c0001t0007g0043a0001c0001t0018g0109a0001c0016t0003g0164others(18): Show | 21 | 186 | 0.1129 | 5 | c.224 others(24): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BSN_chr3_49549477_49676549 | 49605515 | T | TATATA | intron_variant | MODIFIER | HG01074.hp1 HG02257.hp2 HG02451.hp1 others(3): Show |
a0001a0017a0019others(1): Show | a0001c0001a0017c0038a0019c0026others(1): Show | a0001c0001t0002a0001c0001t0007a0017c0038t0027others(2): Show | a0001c0001t0002g0139a0001c0001t0007g0006a0001c0001t0007g0007others(3): Show | 6 | 186 | 0.0323 | 5 | c.225 others(24): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BSN_chr3_49549477_49676549 | 49605516 | A | ATATAT | intron_variant | MODIFIER | HG00544.hp2 HG02615.hp1 |
a0002a0012 | a0002c0002a0012c0011 | a0002c0002t0001a0012c0011t0001 | a0002c0002t0001g0071a0012c0011t0001g0067 | 2 | 186 | 0.0108 | 5 | c.225 others(24): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BSN_chr3_49549477_49676549 | 49606223 | T | TATAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(19): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0002c0019others(5): Show | a0001c0001t0012a0002c0002t0001a0002c0002t0017others(8): Show | a0001c0001t0012g0057a0002c0002t0001g0053a0002c0002t0001g0054others(19): Show | 22 | 186 | 0.1183 | 5 | c.225 others(24): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BSN_chr3_49549477_49676549 | 49606240 | T | TTAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(19): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0002c0019others(5): Show | a0001c0001t0012a0002c0002t0001a0002c0002t0017others(8): Show | a0001c0001t0012g0057a0002c0002t0001g0053a0002c0002t0001g0054others(19): Show | 22 | 186 | 0.1183 | 5 | c.225 others(24): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | chr3 | TogoVar | ||||||
BSPH1_chr19_47963046_47997170 | 47963893 | C | CTTTCT | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00609.hp1 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0101a0001c0001t0001g0114a0001c0001t0001g0136others(23): Show | 26 | 444 | 0.0586 | 5 | c.*43 others(16): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 4152 | chr19 | TogoVar | ||||||
BSPH1_chr19_47963046_47997170 | 47974269 | C | CTCTCT | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(73): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0089others(73): Show | 76 | 444 | 0.1712 | 5 | c.*2+ others(20): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 5/5 | chr19 | TogoVar |