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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BOLA2B_chr16_30187932_30198666 | 30190395 | TTATAATA | T | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01346.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 254 | 0.0158 | -7 | c.*25 others(18): Show |
BOLA2B | ENSG00000169627.9 | transcript | ENST00000651894.2 | protein_coding | 2536 | chr16 | TogoVar | ||||||
BOLA2B_chr16_30187932_30198666 | 30190400 | ATATATAT | A | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02451.hp1 HG02451.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 35 | 254 | 0.1378 | -7 | c.*25 others(18): Show |
BOLA2B | ENSG00000169627.9 | transcript | ENST00000651894.2 | protein_coding | 2531 | chr16 | TogoVar | ||||||
BOP1_chr8_144257045_144296438 | 144280245 | GCCCTGGC | G | intron_variant | MODIFIER | HG02486.hp1 HG02818.hp2 HG03041.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0050a0002c0004t0001g0051a0002c0004t0001g0052others(1): Show | 4 | 398 | 0.0101 | -7 | c.310 others(24): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | ||||||
BORCS6_chr17_8183345_8195180 | 8193292 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG02486.hp1 HG02895.hp2 HG02896.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 6 | 416 | 0.0144 | -7 | c.-31 others(18): Show |
BORCS6 | ENSG00000196544.8 | transcript | ENST00000389017.6 | protein_coding | 3113 | chr17 | TogoVar | ||||||
BPIFC_chr22_32408845_32469446 | 32424685 | TCTTCTTC | T | intron_variant | MODIFIER | HG01884.hp2 HG01943.hp1 HG02922.hp1 others(7): Show |
a0001a0004a0007 | a0001c0001a0004c0004a0007c0008 | a0001c0001t0001a0004c0004t0001a0007c0008t0001 | a0001c0001t0001g0041a0001c0001t0001g0242a0001c0001t0001g0258others(7): Show | 10 | 422 | 0.0237 | -7 | c.121 others(26): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67897341 | CAAAAAAA | C | intron_variant | MODIFIER | HG00741.hp2 HG01975.hp2 HG01978.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0229a0002c0002t0002g0230a0002c0002t0002g0232others(4): Show | 7 | 274 | 0.0256 | -7 | c.254 others(26): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BPTF_chr17_67820503_67989378 | 67923471 | CTTTTTTT | C | intron_variant | MODIFIER | HG01099.hp2 HG02109.hp2 HG02257.hp1 others(11): Show |
a0001 | a0001c0003a0001c0009 | a0001c0003t0002a0001c0003t0003a0001c0009t0003 | a0001c0003t0002g0087a0001c0003t0002g0088a0001c0003t0003g0084others(11): Show | 14 | 274 | 0.0511 | -7 | c.570 others(24): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BRAT1_chr7_2532810_2560524 | 2533376 | ATTTTTTT | A | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02559.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005 | a0001c0002t0001g0061a0001c0002t0001g0062a0001c0002t0001g0082others(5): Show | 8 | 424 | 0.0189 | -7 | c.*46 others(18): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 4433 | chr7 | TogoVar | ||||||
BRCA2_chr13_32310508_32405268 | 32368001 | CTTTTTTT | C | intron_variant | MODIFIER | HG01346.hp1 HG01515.hp2 HG01884.hp2 others(18): Show |
a0001a0013 | a0001c0001a0013c0020 | a0001c0001t0001a0001c0001t0008a0001c0001t0013others(1): Show | a0001c0001t0001g0057a0001c0001t0001g0184a0001c0001t0001g0186others(18): Show | 21 | 398 | 0.0528 | -7 | c.833 others(26): Show |
BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
BRCC3_chrX_155066508_155128077 | 155066633 | CATTTCTA | C | upstream_gene_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 254 | 0.0039 | -7 | c.-48 others(18): Show |
BRCC3 | ENSG00000185515.16 | transcript | ENST00000330045.12 | protein_coding | 4874 | chrX | TogoVar | ||||||
BRCC3_chrX_155066508_155128077 | 155092445 | TTCTGAGA | T | intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 254 | 0.0039 | -7 | c.548 others(24): Show |
BRCC3 | ENSG00000185515.16 | transcript | ENST00000330045.12 | protein_coding | 7/10 | chrX | TogoVar | ||||||
BRD3OS_chr9_134020481_134036587 | 134024258 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(107): Show |
a0000a0001 | a0000c0002a0001c0001 | a0000c0002t0022a0001c0001t0002a0001c0001t0008others(25): Show | a0000c0002t0022g0002a0001c0001t0002g0002a0001c0001t0008g0002others(25): Show | 110 | 334 | 0.3293 | -7 | c.-20 others(18): Show |
BRD3OS | ENSG00000235106.10 | transcript | ENST00000603928.3 | protein_coding | 1222 | chr9 | TogoVar | ||||||
BRD3_chr9_134025305_134073026 | 134051875 | GTGTTGTT | G | intron_variant | MODIFIER | HG03225.hp2 NA18966.hp2 NA19056.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0034 | a0001c0001t0002g0037a0001c0001t0002g0049a0001c0001t0002g0182others(2): Show | 5 | 334 | 0.0150 | -7 | c.352 others(22): Show |
BRD3 | ENSG00000169925.17 | transcript | ENST00000303407.12 | protein_coding | 3/11 | chr9 | TogoVar | ||||||
BRD4_chr19_15230519_15337539 | 15261908 | AAAAGTAG | A | intron_variant | MODIFIER | HG01978.hp2 HG02257.hp2 HG02738.hp1 others(8): Show |
a0001a0002a0003 | a0001c0004a0002c0031a0003c0011 | a0001c0004t0024a0001c0004t0029a0001c0004t0042others(7): Show | a0001c0004t0024g0038a0001c0004t0024g0040a0001c0004t0029g0003others(8): Show | 11 | 208 | 0.0529 | -7 | c.134 others(26): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 7/19 | chr19 | TogoVar | ||||||
BRD4_chr19_15230519_15337539 | 15278105 | CAAAAAAA | C | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp2 HG01256.hp1 others(7): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0003a0005c0019others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0052a0001c0001t0002g0041a0001c0001t0004g0047others(7): Show | 10 | 208 | 0.0481 | -7 | c.-34 others(24): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 1/19 | chr19 | TogoVar | ||||||
BRD4_chr19_15230519_15337539 | 15298620 | CAAAAAAA | C | intron_variant | MODIFIER | HG01934.hp2 HG02132.hp1 HG02258.hp1 others(6): Show |
a0001a0002a0003 | a0001c0002a0002c0003a0003c0026 | a0001c0002t0006a0001c0002t0011a0001c0002t0016others(3): Show | a0001c0002t0006g0178a0001c0002t0011g0173a0001c0002t0011g0174others(6): Show | 9 | 208 | 0.0433 | -7 | c.-34 others(26): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 1/19 | chr19 | TogoVar | ||||||
BRD4_chr19_15230519_15337539 | 15301865 | GAAAAAAA | G | intron_variant | MODIFIER | HG02132.hp1 HG02451.hp2 HG02523.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0023 | a0001c0001t0004a0001c0002t0006a0001c0002t0011others(3): Show | a0001c0001t0004g0067a0001c0002t0006g0178a0001c0002t0011g0173others(6): Show | 9 | 208 | 0.0433 | -7 | c.-34 others(26): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 1/19 | chr19 | TogoVar | ||||||
BRD7_chr16_50310957_50373988 | 50321566 | CAAAAAAA | C | intron_variant | MODIFIER | HG00621.hp1 HG01109.hp1 HG02080.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0050a0001c0001t0001g0053a0001c0001t0001g0066others(6): Show | 9 | 402 | 0.0224 | -7 | c.150 others(24): Show |
BRD7 | ENSG00000166164.17 | transcript | ENST00000394688.8 | protein_coding | 13/16 | chr16 | TogoVar | ||||||
BRD7_chr16_50310957_50373988 | 50369281 | TTCCTTCC | T | upstream_gene_variant | MODIFIER | HG01192.hp2 HG01257.hp1 HG01258.hp1 others(16): Show |
a0001a0007a0011 | a0001c0001a0007c0008a0011c0012 | a0001c0001t0005a0007c0008t0026a0011c0012t0005 | a0001c0001t0005g0015a0001c0001t0005g0016a0001c0001t0005g0039others(14): Show | 19 | 402 | 0.0473 | -7 | c.-51 others(16): Show |
BRD7 | ENSG00000166164.17 | transcript | ENST00000394688.8 | protein_coding | 294 | chr16 | TogoVar | ||||||
BRD9_chr5_858741_897801 | 895488 | GACTTATC | G | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00621.hp1 others(60): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0001t0016a0001c0013t0001 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0014others(25): Show | 63 | 364 | 0.1731 | -7 | c.-28 others(18): Show |
BRD9 | ENSG00000028310.18 | transcript | ENST00000467963.6 | protein_coding | 2688 | chr5 | TogoVar | ||||||
BRDT_chr1_91944401_92019421 | 91987648 | GTTTTTGT | G | intron_variant | MODIFIER | HG02055.hp2 HG02615.hp2 HG02717.hp1 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0304a0001c0006t0001g0305a0001c0006t0001g0306 | 3 | 318 | 0.0094 | -7 | c.200 others(26): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BRDT_chr1_91944401_92019421 | 91994499 | TTCCCAGA | T | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00741.hp2 others(13): Show |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0119a0004c0004t0002g0120a0004c0004t0002g0121others(13): Show | 16 | 318 | 0.0503 | -7 | c.228 others(24): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BRI3BP_chr12_124988645_125036231 | 124988882 | CTCCGAAA | C | upstream_gene_variant | MODIFIER | HG00733.hp2 HG02145.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0017a0001c0001t0076 | a0001c0001t0013g0399a0001c0001t0013g0405a0001c0001t0017g0398others(1): Show | 4 | 410 | 0.0098 | -7 | c.-49 others(18): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 4762 | chr12 | TogoVar | ||||||
BRI3BP_chr12_124988645_125036231 | 125016825 | CTTTTTTT | C | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00741.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0010a0002c0002t0002a0002c0002t0005others(4): Show | a0001c0001t0010g0401a0002c0002t0002g0033a0002c0002t0002g0165others(16): Show | 19 | 410 | 0.0463 | -7 | c.316 others(24): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BRI3BP_chr12_124988645_125036231 | 125019653 | TTTTTGCC | T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00735.hp2 others(34): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0007a0001c0001t0067a0001c0001t0090others(16): Show | a0001c0001t0007g0120a0001c0001t0067g0266a0001c0001t0090g0085others(34): Show | 37 | 410 | 0.0902 | -7 | c.317 others(24): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BRI3BP_chr12_124988645_125036231 | 125022079 | TAAAAAAA | T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(201): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0001c0010others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(83): Show | a0001c0001t0001g0096a0001c0001t0002g0003a0001c0001t0002g0009others(200): Show | 204 | 410 | 0.4976 | -7 | c.317 others(24): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BRI3_chr7_98276686_98296545 | 98280244 | AAAGATAT | A | upstream_gene_variant | MODIFIER | HG00673.hp2 HG02451.hp1 HG02717.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0002g0003a0001c0001t0003g0006others(3): Show | 9 | 414 | 0.0217 | -7 | c.-15 others(18): Show |
BRI3 | ENSG00000164713.10 | transcript | ENST00000297290.4 | protein_coding | 1441 | chr7 | TogoVar | ||||||
BRINP1_chr9_119161629_119374435 | 119172276 | CAATAAAA | C | intron_variant | MODIFIER | HG02258.hp2 HG03130.hp1 HG06807.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0060a0001c0003t0001g0073a0001c0003t0001g0122others(1): Show | 4 | 236 | 0.0170 | -7 | c.114 others(26): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 7/7 | chr9 | TogoVar | ||||||
BRINP1_chr9_119161629_119374435 | 119285201 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(58): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0033a0001c0001t0001g0034a0001c0001t0001g0035others(58): Show | 61 | 236 | 0.2585 | -7 | c.218 others(26): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 2/7 | chr9 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190165461 | TGTGTGTG | T | intron_variant | MODIFIER | HG00621.hp2 HG01123.hp2 HG01361.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0072a0001c0001t0001g0075others(5): Show | 8 | 240 | 0.0333 | -7 | c.962 others(24): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190312934 | ATTTGATT | A | intron_variant | MODIFIER | HG02559.hp2 HG02630.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0184a0001c0001t0002g0208a0001c0001t0002g0209 | 3 | 240 | 0.0125 | -7 | c.237 others(26): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190405486 | AAAAAAAC | A | intron_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG00639.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0026a0001c0001t0001g0035a0001c0001t0001g0036others(18): Show | 21 | 240 | 0.0875 | -7 | c.236 others(26): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190453203 | ATTTTTTT | A | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG01109.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092a0001c0001t0001g0093a0001c0001t0001g0135others(5): Show | 8 | 240 | 0.0333 | -7 | c.236 others(24): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
BRIP1_chr17_61674139_61868528 | 61697336 | CAAAAAAA | C | intron_variant | MODIFIER | HG01109.hp2 HG01261.hp1 HG01346.hp1 others(7): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0004a0001c0001t0017others(2): Show | a0001c0001t0002g0003a0001c0001t0002g0104a0001c0001t0004g0207others(7): Show | 10 | 266 | 0.0376 | -7 | c.249 others(26): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 17/19 | chr17 | TogoVar | ||||||
BRIP1_chr17_61674139_61868528 | 61765372 | GTATATAT | G | intron_variant | MODIFIER | HG00642.hp1 HG01433.hp2 HG03831.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0002c0003t0005 | a0001c0001t0004g0171a0002c0003t0005g0070a0002c0003t0005g0071 | 3 | 266 | 0.0113 | -7 | c.209 others(28): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | ||||||
BRIP1_chr17_61674139_61868528 | 61765410 | TATATATA | T | intron_variant | MODIFIER | HG02572.hp1 HG02896.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0051a0001c0001t0053 | a0001c0001t0015g0261a0001c0001t0051g0250a0001c0001t0053g0262 | 3 | 266 | 0.0113 | -7 | c.209 others(28): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | ||||||
BRIP1_chr17_61674139_61868528 | 61765412 | TATATATA | T | intron_variant | MODIFIER | HG03041.hp2 HG03669.hp1 HG04115.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0015a0001c0001t0052others(1): Show | a0001c0001t0001g0031a0001c0001t0015g0251a0001c0001t0052g0256others(1): Show | 4 | 266 | 0.0150 | -7 | c.209 others(28): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | ||||||
BRIP1_chr17_61674139_61868528 | 61765414 | TATATATA | T | intron_variant | MODIFIER | HG01167.hp2 HG02615.hp2 HG02809.hp2 |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0050a0002c0002t0003a0002c0003t0029 | a0001c0001t0050g0265a0002c0002t0003g0215a0002c0003t0029g0253 | 3 | 266 | 0.0113 | -7 | c.209 others(28): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | ||||||
BRK1_chr3_10110675_10132190 | 10111826 | CAAAAATA | C | upstream_gene_variant | MODIFIER | HG00558.hp1 HG01952.hp2 HG01975.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0052a0001c0001t0004g0026a0001c0001t0004g0027others(8): Show | 14 | 356 | 0.0393 | -7 | c.-38 others(18): Show |
BRK1 | ENSG00000254999.4 | transcript | ENST00000530758.2 | protein_coding | 3848 | chr3 | TogoVar | ||||||
BRME1_chr19_13877348_13911117 | 13903603 | GTGGAGGC | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(137): Show |
a0002a0004a0005others(5): Show | a0002c0002a0002c0003a0004c0005others(6): Show | a0002c0002t0002a0002c0002t0004a0002c0002t0010others(10): Show | a0002c0002t0002g0003a0002c0002t0002g0007a0002c0002t0002g0008others(106): Show | 140 | 322 | 0.4348 | -7 | c.31+ others(22): Show |
BRME1 | ENSG00000132016.12 | transcript | ENST00000586783.6 | protein_coding | 2/8 | chr19 | TogoVar | ||||||
BRMS1_chr11_66332339_66350104 | 66347679 | CCCGCCCG | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(406): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(62): Show | 409 | 424 | 0.9646 | -7 | c.-27 others(18): Show |
BRMS1 | ENSG00000174744.14 | transcript | ENST00000359957.8 | protein_coding | 2576 | chr11 | TogoVar | ||||||
BRS3_chrX_136482947_136498780 | 136491906 | TTTTTGTG | T | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 280 | 0.0036 | -7 | c.787 others(20): Show |
BRS3 | ENSG00000102239.5 | transcript | ENST00000370648.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BRSK1_chr19_55278997_55317562 | 55282337 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00558.hp2 others(107): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(95): Show | 110 | 338 | 0.3254 | -7 | c.-21 others(18): Show |
BRSK1 | ENSG00000160469.17 | transcript | ENST00000309383.6 | protein_coding | 1659 | chr19 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1457829 | CGGGCTGG | C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00423.hp2 others(48): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(15): Show | a0001c0001t0001g0123a0001c0001t0001g0124a0001c0001t0001g0127others(48): Show | 51 | 360 | 0.1417 | -7 | c.193 others(26): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BRWD1_chr21_39180482_39318632 | 39248641 | CAAAAAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00673.hp2 HG01169.hp2 others(32): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(4): Show | a0001c0001t0002a0001c0001t0041a0002c0002t0069others(14): Show | a0001c0001t0002g0078a0001c0001t0041g0139a0002c0002t0069g0333others(32): Show | 35 | 338 | 0.1036 | -7 | c.235 others(24): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 20/40 | chr21 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39272008 | CAAAAAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG01256.hp1 HG01928.hp1 others(30): Show |
a0004a0012 | a0004c0003a0004c0006a0004c0019others(1): Show | a0004c0003t0006a0004c0003t0039a0004c0003t0052others(10): Show | a0004c0003t0006g0140a0004c0003t0006g0143a0004c0003t0006g0144others(30): Show | 33 | 338 | 0.0976 | -7 | c.124 others(26): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 13/40 | chr21 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39279650 | AAAAAAAG | A | intron_variant | MODIFIER | HG01167.hp2 HG01175.hp1 HG01891.hp1 others(17): Show |
a0003 | a0003c0004a0003c0005 | a0003c0004t0032a0003c0005t0007a0003c0005t0031others(3): Show | a0003c0004t0032g0099a0003c0005t0007g0100a0003c0005t0007g0101others(17): Show | 20 | 338 | 0.0592 | -7 | c.932 others(22): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 9/40 | chr21 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39292125 | GTGGGGGT | G | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00741.hp1 others(32): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0004a0004c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0002g0019a0001c0001t0002g0022a0001c0001t0002g0023others(32): Show | 35 | 338 | 0.1036 | -7 | c.831 others(24): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 8/40 | chr21 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39304141 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(136): Show |
a0001a0007a0008others(2): Show | a0001c0001a0001c0008a0001c0020others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(28): Show | a0001c0001t0002g0019a0001c0001t0002g0020a0001c0001t0002g0021others(136): Show | 139 | 338 | 0.4112 | -7 | c.199 others(24): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 4/40 | chr21 | TogoVar | ||||||
BRWD3_chrX_80664503_80814877 | 80696557 | CACACACA | C | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0123 | 1 | 265 | 0.0038 | -7 | c.306 others(24): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 26/40 | chrX | TogoVar |