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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BPI_chr20_38299156_38342505 | 38339638 | G | GAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG00741.hp1 others(34): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0002a0003c0003others(11): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(11): Show | a0001c0001t0001g0037 a0001c0001t0001g0250 a0001c0001t0001g0252 others(32): Show |
37 | 83 | 0.4458 | 9 | c.*24 others(20): Show |
BPI | ENSG00000101425.14 | transcript | ENST00000642449.2 | protein_coding | 2134 | chr20 | TogoVar | |||||||
BPNT1_chr1_220052482_220094788 | 220076701 | T | TTAATAAT others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01981.hp1 HG02004.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0001 | a0001c0001t0007g0097 a0001c0001t0007g0098 a0001c0001t0007g0206 others(1): Show |
4 | 300 | 0.0133 | 9 | c.121 others(26): Show |
BPNT1 | ENSG00000162813.18 | transcript | ENST00000322067.12 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
BPTF_chr17_67820503_67989378 | 67917130 | C | CATTGTCC others(2): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02717.hp2 NA18953.hp1 others(3): Show |
a0004 | a0004c0007a0004c0026 | a0004c0007t0002a0004c0026t0002 | a0004c0007t0002g0071 a0004c0007t0002g0075 a0004c0007t0002g0077 others(3): Show |
6 | 260 | 0.0231 | 9 | c.530 others(28): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 11/27 | chr17 | TogoVar | |||||||
BPTF_chr17_67820503_67989378 | 67934870 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02717.hp1 HG02818.hp1 others(5): Show |
a0001a0009 | a0001c0005a0009c0023 | a0001c0005t0005a0009c0023t0005 | a0001c0005t0005g0101 a0001c0005t0005g0264 a0001c0005t0005g0265 others(5): Show |
8 | 12 | 0.6667 | 9 | c.625 others(28): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67959642 | T | TCCTCCAG others(2): Show |
conservative_inframe_insertion | MODERATE | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(104): Show |
a0002a0004a0005others(4): Show | a0002c0002a0002c0006a0002c0014others(8): Show | a0002c0002t0002a0002c0002t0007a0002c0006t0002others(9): Show | a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0180 others(104): Show |
107 | 271 | 0.3948 | 9 | c.804 others(18): Show |
p.Ala others(15): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 24/28 | 8275/11075 | 8053/8763 | 2685/2920 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
BPTF_chr17_67820503_67989378 | 67981866 | A | ACACACAC others(2): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02083.hp2 HG03540.hp2 |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0002a0003c0004t0004 | a0002c0002t0002g0193 a0002c0002t0002g0234 a0003c0004t0004g0169 |
3 | 24 | 0.1250 | 9 | c.872 others(26): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 27/27 | chr17 | TogoVar | |||||||
BRAF_chr7_140714337_140929929 | 140906087 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02257.hp1 HG02818.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0135 a0001c0001t0005g0182 a0001c0001t0005g0184 others(9): Show |
12 | 78 | 0.1538 | 9 | c.138 others(28): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 1/19 | chr7 | TogoVar | |||||||
BRAF_chr7_140725665_140929929 | 140906087 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02257.hp2 HG02723.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0013others(2): Show | a0001c0001t0005g0187 a0001c0001t0005g0189 a0001c0001t0005g0190 others(10): Show |
13 | 81 | 0.1605 | 9 | c.138 others(28): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
BRAP_chr12_111637146_111690956 | 111651225 | T | TTAATAAT others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01081.hp1 HG01167.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0058 a0001c0001t0001g0076 a0001c0001t0001g0093 others(9): Show |
12 | 145 | 0.0828 | 9 | c.131 others(28): Show |
BRAP | ENSG00000089234.16 | transcript | ENST00000419234.9 | protein_coding | 10/11 | chr12 | TogoVar | |||||||
BRAT1_chr7_2532810_2560524 | 2533376 | A | ATATTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 HG01258.hp2 HG02004.hp2 others(21): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0002t0003a0002c0004t0001others(2): Show | a0001c0001t0001g0003 a0001c0002t0003g0023 a0001c0002t0003g0084 others(17): Show |
24 | 227 | 0.1057 | 9 | c.*46 others(20): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 4433 | chr7 | TogoVar | |||||||
BRAT1_chr7_2532810_2560524 | 2545363 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00738.hp1 others(14): Show |
a0002a0003a0020 | a0002c0004a0003c0005a0020c0025 | a0002c0004t0001a0003c0005t0002a0020c0025t0001 | a0002c0004t0001g0001 a0002c0004t0001g0022 a0002c0004t0001g0024 others(8): Show |
17 | 199 | 0.0854 | 9 | c.283 others(24): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 3/13 | chr7 | TogoVar | |||||||
BRAT1_chr7_2532810_2560524 | 2552107 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01081.hp2 NA18990.hp2 others(3): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0047 a0001c0001t0001g0188 a0001c0002t0001g0109 others(2): Show |
6 | 344 | 0.0174 | 9 | c.127 others(26): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
BRCA1_chr17_43039295_43130364 | 43059469 | C | CACAACAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00558.hp2 others(18): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0003c0010others(2): Show | a0001c0001t0001a0003c0003t0002a0003c0010t0002others(2): Show | a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 others(18): Show |
21 | 128 | 0.1641 | 9 | c.519 others(28): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 18/22 | chr17 | TogoVar | |||||||
BRCA1_chr17_43039295_43130364 | 43102357 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG01070.hp2 others(21): Show |
a0001a0004a0009 | a0001c0001a0004c0004a0009c0023 | a0001c0001t0001a0001c0001t0002a0004c0004t0001others(1): Show | a0001c0001t0001g0104 a0001c0001t0001g0166 a0001c0001t0001g0167 others(21): Show |
24 | 115 | 0.2087 | 9 | c.441 others(26): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | TogoVar | |||||||
BRCA2_chr13_32310508_32405268 | 32347011 | T | TTTTATAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01167.hp2 others(45): Show |
a0003a0006a0032 | a0003c0005a0003c0023a0003c0051others(2): Show | a0003c0005t0003a0003c0005t0007a0003c0005t0010others(7): Show | a0003c0005t0003g0003 a0003c0005t0003g0023 a0003c0005t0003g0029 others(41): Show |
48 | 396 | 0.1212 | 9 | c.700 others(26): Show |
BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 13/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
BRCA2_chr13_32310508_32405268 | 32367579 | A | AGATGGCT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(223): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0003a0001c0011others(24): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(41): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(212): Show |
226 | 396 | 0.5707 | 9 | c.833 others(28): Show |
BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 18/26 | chr13 | TogoVar | |||||||
BRD4_chr19_15230519_15337539 | 15332501 | A | AGCCGCCG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG02622.hp2 HG02630.hp1 HG02723.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0030a0001c0001t0031a0001c0001t0032others(1): Show | a0001c0001t0030g0004 a0001c0001t0031g0007 a0001c0001t0032g0005 others(1): Show |
4 | 71 | 0.0563 | 9 | c.-25 others(18): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 1/20 | 59403 | chr19 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 124991694 | T | TTTATTAT others(2): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00597.hp2 others(36): Show |
a0002 | a0002c0002a0002c0009 | a0002c0002t0001a0002c0002t0004a0002c0002t0005others(16): Show | a0002c0002t0001g0339 a0002c0002t0001g0340 a0002c0002t0001g0341 others(36): Show |
39 | 387 | 0.1008 | 9 | c.-20 others(20): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1950 | chr12 | TogoVar | |||||||
BRI3BP_chr12_124988645_125036231 | 124997214 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01496.hp1 HG02132.hp1 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0047 others(23): Show |
26 | 45 | 0.5778 | 9 | c.213 others(26): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 125019634 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01884.hp2 HG02145.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0013a0001c0001t0017a0001c0001t0031others(4): Show | a0001c0001t0013g0393 a0001c0001t0013g0399 a0001c0001t0017g0392 others(7): Show |
10 | 334 | 0.0299 | 9 | c.317 others(26): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 2/2 | chr12 | TogoVar | |||||||
BRI3BP_chr12_124988645_125036231 | 125022541 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01099.hp2 HG01256.hp2 others(14): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0007a0001c0001t0098a0002c0002t0007others(6): Show | a0001c0001t0007g0139 a0001c0001t0098g0108 a0002c0002t0007g0120 others(14): Show |
17 | 217 | 0.0783 | 9 | c.317 others(26): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BRI3_chr7_98276686_98296545 | 98280245 | A | AAAAAAAT others(2): Show |
upstream_gene_variant | MODIFIER | HG02015.hp1 HG02027.hp1 NA18941.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0013 a0001c0001t0001g0083 a0001c0002t0001g0003 others(3): Show |
6 | 136 | 0.0441 | 9 | c.-15 others(20): Show |
BRI3 | ENSG00000164713.10 | transcript | ENST00000297290.4 | protein_coding | 1440 | chr7 | TogoVar | |||||||
BRI3_chr7_98276686_98296545 | 98280245 | A | AGATATAT others(2): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG01928.hp1 HG02698.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0038 others(4): Show |
12 | 142 | 0.0845 | 9 | c.-15 others(20): Show |
BRI3 | ENSG00000164713.10 | transcript | ENST00000297290.4 | protein_coding | 1440 | chr7 | TogoVar | |||||||
BRINP1_chr9_119161629_119374435 | 119237346 | C | CATTATTA others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01891.hp2 HG03209.hp2 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0004a0001c0003t0001a0001c0003t0007 | a0001c0002t0004g0029 a0001c0002t0004g0116 a0001c0003t0001g0149 others(3): Show |
6 | 66 | 0.0909 | 9 | c.685 others(26): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 5/7 | chr9 | TogoVar | |||||||
BRINP1_chr9_119161629_119374435 | 119283237 | A | AGCCTCAG others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp1 others(34): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(4): Show | a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0057 others(34): Show |
37 | 234 | 0.1581 | 9 | c.218 others(28): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 2/7 | chr9 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190165443 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02922.hp2 HG03516.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0029 a0001c0001t0001g0103 a0001c0001t0001g0105 others(4): Show |
7 | 148 | 0.0473 | 9 | c.962 others(26): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190165460 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02896.hp1 HG02897.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0227 a0001c0001t0002g0235 a0001c0001t0002g0237 others(2): Show |
5 | 192 | 0.0260 | 9 | c.962 others(26): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190293494 | A | ACTCAAAC others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02970.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 others(1): Show |
4 | 238 | 0.0168 | 9 | c.237 others(28): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190453203 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02132.hp2 HG02135.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0056 others(8): Show |
11 | 29 | 0.3793 | 9 | c.236 others(26): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61791488 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02080.hp1 HG02257.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0004a0001c0001t0008a0001c0001t0028others(5): Show | a0001c0001t0004g0170 a0001c0001t0008g0192 a0001c0001t0028g0230 others(9): Show |
12 | 65 | 0.1846 | 9 | c.147 others(28): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 10/19 | chr17 | TogoVar | |||||||
BRK1_chr3_10110675_10132190 | 10111390 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00735.hp1 HG00735.hp2 others(63): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0020 others(47): Show |
66 | 281 | 0.2349 | 9 | c.-43 others(20): Show |
BRK1 | ENSG00000254999.4 | transcript | ENST00000530758.2 | protein_coding | 4284 | chr3 | TogoVar | |||||||
BRK1_chr3_10110675_10132190 | 10112493 | A | ATTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00639.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0049 others(22): Show |
30 | 262 | 0.1145 | 9 | c.-32 others(20): Show |
BRK1 | ENSG00000254999.4 | transcript | ENST00000530758.2 | protein_coding | 3181 | chr3 | TogoVar | |||||||
BRME1_chr19_13877348_13911117 | 13891135 | T | TTTTTTAT others(2): Show |
intron_variant | MODIFIER | HG01099.hp1 HG03710.hp2 NA18946.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0007 a0002c0002t0002g0072 a0002c0002t0002g0073 others(2): Show |
8 | 186 | 0.0430 | 9 | c.394 others(24): Show |
BRME1 | ENSG00000132016.12 | transcript | ENST00000586783.6 | protein_coding | 5/8 | chr19 | TogoVar | |||||||
BRMS1L_chr14_35821338_35876963 | 35873784 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG01257.hp2 HG01884.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0014 others(7): Show |
12 | 135 | 0.0889 | 9 | c.*33 others(20): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 1822 | chr14 | TogoVar | |||||||
BROX_chr1_222707564_222740187 | 222738564 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG01071.hp1 others(49): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0031 others(26): Show |
52 | 157 | 0.3312 | 9 | c.*58 others(20): Show |
BROX | ENSG00000162819.12 | transcript | ENST00000340934.10 | protein_coding | 3378 | chr1 | TogoVar | |||||||
BRSK1_chr19_55278997_55317562 | 55279518 | A | AGCCGCCG others(2): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(233): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(212): Show |
236 | 336 | 0.7024 | 9 | c.-49 others(20): Show |
BRSK1 | ENSG00000160469.17 | transcript | ENST00000309383.6 | protein_coding | 4478 | chr19 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39203438 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01515.hp1 HG01516.hp2 others(6): Show |
a0003 | a0003c0004 | a0003c0004t0005a0003c0004t0010 | a0003c0004t0005g0119 a0003c0004t0005g0120 a0003c0004t0005g0122 others(6): Show |
9 | 175 | 0.0514 | 9 | c.436 others(26): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 37/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39286016 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG01167.hp2 others(41): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0005a0003c0014others(3): Show | a0001c0001t0004a0001c0001t0041a0003c0005t0007others(15): Show | a0001c0001t0004g0283 a0001c0001t0041g0139 a0003c0005t0007g0102 others(41): Show |
44 | 114 | 0.3860 | 9 | c.832 others(26): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 8/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39313354 | G | GGCCCGGG others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01256.hp1 HG01928.hp1 others(29): Show |
a0004a0010 | a0004c0003a0004c0006a0004c0019others(1): Show | a0004c0003t0006a0004c0003t0039a0004c0003t0052others(9): Show | a0004c0003t0006g0142 a0004c0003t0006g0143 a0004c0003t0006g0147 others(29): Show |
32 | 335 | 0.0955 | 9 | c.50- others(20): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 1/40 | chr21 | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80679733 | G | GAGAAGTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0048a0001c0001t0050others(12): Show | a0001c0001t0016g0137 a0001c0001t0016g0138 a0001c0001t0016g0139 others(15): Show |
18 | 263 | 0.0684 | 9 | c.465 others(28): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 40/40 | chrX | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80809748 | G | GAGAGGAA others(2): Show |
5_prime_UTR_variant | MODIFIER | HG01168.hp2 HG02717.hp1 HG04199.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0035a0001c0001t0036a0001c0001t0058others(3): Show | a0001c0001t0035g0066 a0001c0001t0035g0067 a0001c0001t0036g0063 others(5): Show |
8 | 260 | 0.0308 | 9 | c.-27 others(18): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 1/41 | 278 | chrX | TogoVar | ||||||
BSG_chr19_567596_588493 | 586285 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00558.hp1 others(98): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0021others(17): Show | a0001c0001t0003g0021 a0001c0001t0003g0069 a0001c0001t0003g0073 others(60): Show |
101 | 199 | 0.5075 | 9 | c.*35 others(20): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 2793 | chr19 | TogoVar | |||||||
BSND_chr1_54993933_55022172 | 54996837 | C | CTTTCTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 HG03209.hp1 HG03486.hp2 |
a0002 | a0002c0002 | a0002c0002t0032a0002c0002t0095 | a0002c0002t0032g0031 a0002c0002t0095g0088 |
3 | 280 | 0.0107 | 9 | c.-23 others(20): Show |
BSND | ENSG00000162399.9 | transcript | ENST00000651561.1 | protein_coding | 2095 | chr1 | TogoVar | |||||||
BSN_chr3_49549477_49676549 | 49605580 | T | TTATATAT others(2): Show |
intron_variant | MODIFIER | HG02735.hp1 NA18963.hp1 NA19065.hp1 |
a0007a0013 | a0007c0011a0013c0010 | a0007c0011t0001a0013c0010t0001 | a0007c0011t0001g0065 a0013c0010t0001g0064 a0013c0010t0001g0164 |
3 | 86 | 0.0349 | 9 | c.225 others(28): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49673087 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02965.hp1 HG02976.hp1 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0015 a0003c0003t0004g0017 a0003c0003t0004g0020 others(4): Show |
7 | 29 | 0.2414 | 9 | c.*56 others(20): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1539 | chr3 | TogoVar | |||||||
BSPH1_chr19_47963046_47997170 | 47973218 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 NA18980.hp1 NA19091.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0095 a0001c0001t0001g0374 a0002c0002t0002g0067 |
3 | 68 | 0.0441 | 9 | c.*2+ others(24): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
BSX_chr11_122972570_122986834 | 122983523 | G | GAAAGAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 HG02922.hp2 HG03209.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0007 a0001c0001t0002g0025 |
6 | 31 | 0.1935 | 9 | c.-18 others(20): Show |
BSX | ENSG00000188909.5 | transcript | ENST00000343035.3 | protein_coding | 1690 | chr11 | TogoVar | |||||||
BTAF1_chr10_91918770_92036437 | 91942295 | A | AAGTTTGT others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG00673.hp1 others(23): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0002a0001c0001t0008a0001c0013t0002 | a0001c0001t0002g0163 a0001c0001t0002g0173 a0001c0001t0002g0239 others(23): Show |
26 | 268 | 0.0970 | 9 | c.254 others(24): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 3/37 | chr10 | TogoVar | |||||||
BTAF1_chr10_91918770_92036437 | 92024732 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG01081.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007 | a0001c0001t0002g0174 a0001c0001t0002g0313 a0001c0001t0002g0325 others(11): Show |
14 | 232 | 0.0603 | 9 | c.486 others(24): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 34/37 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BTAF1_chr10_91918770_92036437 | 92032009 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG01433.hp1 HG02257.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 others(5): Show |
8 | 23 | 0.3478 | 9 | c.*30 others(20): Show |
BTAF1 | ENSG00000095564.15 | transcript | ENST00000265990.12 | protein_coding | 573 | chr10 | TogoVar |