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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BAIAP2L1_chr7_98286650_98406090 | 98357050 | T | TATATATA | intron_variant | MODIFIER | HG01891.hp1 HG02965.hp2 NA18944.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0170 a0001c0001t0004g0173 a0001c0001t0004g0174 others(1): Show |
4 | 163 | 0.0245 | 7 | c.128 others(24): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98364986 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp1 HG00597.hp2 others(22): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0003a0001c0003t0010a0001c0003t0015others(2): Show | a0001c0003t0003g0096 a0001c0003t0003g0099 a0001c0003t0003g0104 others(21): Show |
25 | 42 | 0.5952 | 7 | c.52- others(22): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | |||||||
BAIAP2L2_chr22_38079900_38115684 | 38092781 | A | AGGTGGTG | intron_variant | MODIFIER | HG00099.hp1 HG01071.hp1 HG01071.hp2 others(10): Show |
a0001a0002a0003others(3): Show | a0001c0002a0002c0001a0003c0003others(3): Show | a0001c0002t0001a0002c0001t0001a0002c0001t0004others(5): Show | a0001c0002t0001g0011 a0002c0001t0001g0002 a0002c0001t0001g0003 others(10): Show |
13 | 16 | 0.8125 | 7 | c.613 others(24): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 7/13 | chr22 | TogoVar | |||||||
BAMBI_chr10_28672521_28687932 | 28683987 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00673.hp2 HG01256.hp2 HG01257.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0002 a0001c0001t0001g0048 a0001c0001t0002g0003 others(2): Show |
7 | 138 | 0.0507 | 7 | c.*15 others(18): Show |
BAMBI | ENSG00000095739.11 | transcript | ENST00000375533.6 | protein_coding | 1056 | chr10 | TogoVar | |||||||
BANK1_chr4_101785730_102079812 | 101988852 | A | ATGTAACG | intron_variant | MODIFIER | HG02257.hp2 HG02486.hp1 HG02723.hp1 others(7): Show |
a0006a0011 | a0006c0007a0006c0013a0011c0015 | a0006c0007t0001a0006c0007t0003a0006c0013t0003others(2): Show | a0006c0007t0001g0261 a0006c0007t0001g0263 a0006c0007t0001g0264 others(7): Show |
10 | 282 | 0.0355 | 7 | c.120 others(28): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BANP_chr16_87946434_88082316 | 87962239 | C | CAAAAAAA | intron_variant | MODIFIER | HG02451.hp1 HG02809.hp1 HG03486.hp2 others(4): Show |
a0001a0002 | a0001c0004a0001c0008a0001c0010others(3): Show | a0001c0004t0004a0001c0008t0004a0001c0010t0007others(4): Show | a0001c0004t0004g0066 a0001c0008t0004g0145 a0001c0010t0007g0150 others(4): Show |
7 | 162 | 0.0432 | 7 | c.-69 others(26): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BANP_chr16_87946434_88082316 | 87973768 | A | AAAGAAAG | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02257.hp2 others(10): Show |
a0001 | a0001c0008a0001c0009a0001c0032 | a0001c0008t0001a0001c0009t0005a0001c0032t0005 | a0001c0008t0001g0007 a0001c0008t0001g0268 a0001c0008t0001g0271 others(8): Show |
13 | 208 | 0.0625 | 7 | c.-68 others(24): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BANP_chr16_87946434_88082316 | 87976474 | G | GTTTTTTT | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02257.hp2 others(12): Show |
a0001 | a0001c0001a0001c0007a0001c0008others(2): Show | a0001c0001t0001a0001c0007t0001a0001c0007t0005others(3): Show | a0001c0001t0001g0207 a0001c0001t0001g0235 a0001c0007t0001g0094 others(11): Show |
15 | 99 | 0.1515 | 7 | c.70+ others(22): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BANP_chr16_87946434_88082316 | 88079527 | A | ATTTTTTT | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01069.hp2 HG01071.hp1 others(62): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0002a0001c0001t0005a0001c0002t0002others(15): Show | a0001c0001t0002g0182 a0001c0001t0005g0253 a0001c0002t0002g0024 others(61): Show |
65 | 248 | 0.2621 | 7 | c.*28 others(18): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 2212 | chr16 | TogoVar | |||||||
BANP_chr16_87946434_88082316 | 88080487 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00735.hp2 HG00741.hp2 others(8): Show |
a0001 | a0001c0004a0001c0008a0001c0010 | a0001c0004t0004a0001c0004t0012a0001c0008t0001others(1): Show | a0001c0004t0004g0064 a0001c0004t0004g0129 a0001c0004t0004g0143 others(8): Show |
11 | 290 | 0.0379 | 7 | c.*38 others(18): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 3172 | chr16 | TogoVar | |||||||
BATF3_chr1_212681417_212704840 | 212681420 | A | ATTTTTTT | downstream_gene_variant | MODIFIER | HG02451.hp2 HG02717.hp1 HG02976.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0018 a0001c0001t0001g0033 a0001c0001t0001g0146 others(3): Show |
9 | 80 | 0.1125 | 7 | c.*53 others(18): Show |
BATF3 | ENSG00000123685.9 | transcript | ENST00000243440.2 | protein_coding | 4996 | chr1 | TogoVar | |||||||
BATF_chr14_75517469_75551992 | 75521766 | T | TTTCTTTC | upstream_gene_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG02258.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0036 others(17): Show |
23 | 178 | 0.1292 | 7 | c.-91 others(16): Show |
BATF | ENSG00000156127.8 | transcript | ENST00000286639.8 | protein_coding | 702 | chr14 | TogoVar | |||||||
BATF_chr14_75517469_75551992 | 75539424 | A | ATTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00609.hp1 others(89): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(68): Show |
92 | 125 | 0.7360 | 7 | c.169 others(24): Show |
BATF | ENSG00000156127.8 | transcript | ENST00000286639.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BAX_chr19_48949875_48966798 | 48954325 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG00733.hp2 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 others(28): Show |
61 | 95 | 0.6421 | 7 | c.-60 others(16): Show |
BAX | ENSG00000087088.21 | transcript | ENST00000345358.12 | protein_coding | 549 | chr19 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34751700 | T | TAAAAAAA | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00544.hp1 others(8): Show |
a0001 | a0001c0003 | a0001c0003t0005a0001c0003t0012 | a0001c0003t0005g0004 a0001c0003t0005g0006 a0001c0003t0005g0008 others(8): Show |
11 | 181 | 0.0608 | 7 | c.*18 others(18): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 1030 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34825447 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00642.hp2 others(42): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0002a0001c0003t0005others(1): Show | a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0002g0058 others(42): Show |
45 | 145 | 0.3103 | 7 | c.536 others(22): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 4/26 | chr14 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159377812 | C | CAAAAAAA | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG02109.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0023a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0023t0002others(2): Show | a0001c0001t0001g0047 a0001c0001t0001g0097 a0001c0001t0001g0101 others(11): Show |
14 | 70 | 0.2000 | 7 | c.400 others(26): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 25/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159415444 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(45): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0004c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0022 others(45): Show |
48 | 66 | 0.7273 | 7 | c.246 others(26): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 13/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159519210 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG01123.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0002a0001c0008t0002a0002c0002t0002 | a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0183 others(3): Show |
6 | 53 | 0.1132 | 7 | c.-3+ others(24): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159533574 | T | TGATTTAA | intron_variant | MODIFIER | HG00639.hp2 HG02572.hp2 HG02622.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0001g0033 a0001c0001t0001g0102 a0001c0001t0005g0130 others(2): Show |
5 | 214 | 0.0234 | 7 | c.-3+ others(24): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2/36 | chr2 | TogoVar | |||||||
BBC3_chr19_47215824_47236199 | 47217194 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(251): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0015 others(153): Show |
254 | 287 | 0.8850 | 7 | c.*46 others(18): Show |
BBC3 | ENSG00000105327.18 | transcript | ENST00000439096.3 | protein_coding | 3629 | chr19 | TogoVar | |||||||
BBLN_chr9_128155265_128168924 | 128155573 | G | GCCCCCCC | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00597.hp1 others(63): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(6): Show |
66 | 235 | 0.2809 | 7 | c.-48 others(18): Show |
BBLN | ENSG00000171159.5 | transcript | ENST00000372994.2 | protein_coding | 4691 | chr9 | TogoVar | |||||||
BBOX1_chr11_27035815_27132809 | 27057064 | T | TAAAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00738.hp1 HG03239.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0078 a0001c0001t0001g0092 a0001c0001t0001g0096 others(8): Show |
11 | 13 | 0.8462 | 7 | c.220 others(22): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BBS2_chr16_56479385_56525024 | 56523702 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG02717.hp2 others(8): Show |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0037 a0003c0003t0003g0038 a0003c0003t0003g0271 others(6): Show |
11 | 342 | 0.0322 | 7 | c.-38 others(18): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 3679 | chr16 | TogoVar | |||||||
BBS4_chr15_72681207_72743473 | 72688411 | C | CTTTTTTT | intron_variant | MODIFIER | HG01071.hp2 HG01109.hp2 HG01258.hp1 others(29): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0334 others(29): Show |
32 | 49 | 0.6531 | 7 | c.24+ others(22): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72702802 | C | CTTTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG01346.hp1 HG02027.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0149 a0001c0001t0001g0391 a0002c0002t0001g0019 others(6): Show |
9 | 27 | 0.3333 | 7 | c.77- others(22): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33286994 | G | GAAGAACT | intron_variant | MODIFIER | HG00558.hp1 HG02132.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0104 a0001c0001t0002g0105 |
2 | 266 | 0.0075 | 7 | c.101 others(28): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33565839 | A | ATATATAT | intron_variant | MODIFIER | HG01081.hp1 HG02451.hp1 HG02630.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0118 others(2): Show |
5 | 245 | 0.0204 | 7 | c.252 others(28): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | chr7 | TogoVar | |||||||
BBS9_chr7_33124564_33611069 | 33602205 | T | TACACAGC | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp1 others(198): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0009a0001c0010others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0045 others(198): Show |
201 | 266 | 0.7556 | 7 | c.252 others(26): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107737884 | G | GTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00733.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0148 a0001c0001t0002g0076 a0001c0001t0002g0087 others(12): Show |
15 | 45 | 0.3333 | 7 | c.669 others(24): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BCAP29_chr7_107575246_107625478 | 107594463 | C | CAGGCACA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(291): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(262): Show |
294 | 396 | 0.7424 | 7 | c.344 others(22): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BCAR1_chr16_75223181_75256624 | 75225506 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG01361.hp1 HG01361.hp2 HG02738.hp2 others(3): Show |
a0001a0002 | a0001c0008a0002c0002 | a0001c0008t0003a0001c0008t0004a0002c0002t0001 | a0001c0008t0003g0086 a0001c0008t0003g0087 a0001c0008t0003g0090 others(3): Show |
6 | 69 | 0.0870 | 7 | c.*39 others(18): Show |
BCAR1 | ENSG00000050820.17 | transcript | ENST00000162330.10 | protein_coding | 2674 | chr16 | TogoVar | |||||||
BCAR1_chr16_75223181_75256624 | 75245964 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00423.hp1 others(13): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0038others(1): Show | a0001c0001t0002a0001c0001t0017a0001c0003t0002others(2): Show | a0001c0001t0002g0001 a0001c0001t0002g0153 a0001c0001t0017g0114 others(9): Show |
16 | 35 | 0.4571 | 7 | c.13- others(22): Show |
BCAR1 | ENSG00000050820.17 | transcript | ENST00000162330.10 | protein_coding | 1/6 | chr16 | TogoVar | |||||||
BCAR3_chr1_93556741_93686837 | 93565388 | T | TTCAGTTA | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(131): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0002a0001c0008others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0017 others(127): Show |
134 | 200 | 0.6700 | 7 | c.229 others(26): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 11/11 | chr1 | TogoVar | |||||||
BCAR3_chr1_93556741_93686837 | 93675925 | C | CAAAAAAA | intron_variant | MODIFIER | HG00673.hp2 HG01070.hp1 HG01167.hp2 others(17): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0003c0004others(3): Show | a0001c0001t0001a0001c0002t0001a0003c0004t0001others(3): Show | a0001c0001t0001g0018 a0001c0001t0001g0048 a0001c0001t0001g0050 others(17): Show |
20 | 98 | 0.2041 | 7 | c.-11 others(22): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
BCAR3_chr1_93556741_93686837 | 93684721 | G | GTGTTTTT | upstream_gene_variant | MODIFIER | HG01928.hp2 HG02257.hp1 HG03130.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0026 others(2): Show |
5 | 199 | 0.0251 | 7 | c.-31 others(18): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 2885 | chr1 | TogoVar | |||||||
BCAR3_chr1_93556741_93686837 | 93684724 | T | TTTTTTGC | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00639.hp1 others(91): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0018others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(16): Show | a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0017 others(88): Show |
94 | 200 | 0.4700 | 7 | c.-31 others(18): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 2888 | chr1 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 54044837 | C | CAAAAAAA | intron_variant | MODIFIER | HG01081.hp2 HG02523.hp1 HG02647.hp1 others(6): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0006others(1): Show | a0001c0001t0004a0001c0001t0028a0001c0001t0037others(5): Show | a0001c0001t0004g0336 a0001c0001t0028g0247 a0001c0001t0037g0356 others(6): Show |
9 | 258 | 0.0349 | 7 | c.142 others(26): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 54051726 | T | TTTGTTTG | intron_variant | MODIFIER | HG01243.hp2 HG02717.hp2 NA19240.hp1 |
a0006a0013 | a0006c0006a0013c0016 | a0006c0006t0021a0013c0016t0009 | a0006c0006t0021g0070 a0006c0006t0021g0198 a0013c0016t0009g0259 |
3 | 154 | 0.0195 | 7 | c.142 others(24): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 60854949 | G | GTTTTTTT | intron_variant | MODIFIER | HG01891.hp1 HG03041.hp1 HG03453.hp2 others(3): Show |
a0001a0003 | a0001c0004a0003c0001 | a0001c0004t0001a0001c0004t0002a0003c0001t0001 | a0001c0004t0001g0034 a0001c0004t0001g0043 a0001c0004t0001g0045 others(3): Show |
6 | 51 | 0.1176 | 7 | c.477 others(26): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60911123 | C | CTTTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG01099.hp2 HG01256.hp1 others(9): Show |
a0001a0002a0003 | a0001c0004a0002c0003a0003c0001 | a0001c0004t0001a0002c0003t0001a0002c0003t0002others(1): Show | a0001c0004t0001g0046 a0002c0003t0001g0037 a0002c0003t0001g0038 others(9): Show |
12 | 36 | 0.3333 | 7 | c.993 others(22): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60976020 | C | CTTTTTTT | intron_variant | MODIFIER | HG02083.hp1 HG02145.hp2 HG02486.hp1 others(1): Show |
a0001a0002a0003 | a0001c0002a0002c0003a0003c0001 | a0001c0002t0001a0002c0003t0002a0002c0003t0003others(1): Show | a0001c0002t0001g0059 a0002c0003t0002g0039 a0002c0003t0003g0013 others(1): Show |
4 | 10 | 0.4000 | 7 | c.122 others(28): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61042912 | A | AAAAAAAG | intron_variant | MODIFIER | HG01099.hp1 HG01952.hp2 HG02886.hp2 others(1): Show |
a0001a0004 | a0001c0002a0004c0009 | a0001c0002t0002a0004c0009t0001 | a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0057 others(1): Show |
4 | 73 | 0.0548 | 7 | c.202 others(26): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61045967 | T | TATATATA | intron_variant | MODIFIER | HG03041.hp1 NA20300.hp1 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002 | a0001c0004t0001g0045 a0001c0004t0002g0044 |
2 | 72 | 0.0278 | 7 | c.202 others(26): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61045977 | T | TATATATA | intron_variant | MODIFIER | HG03195.hp1 HG03453.hp1 |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0002 | a0002c0003t0001g0041 a0002c0003t0002g0036 |
2 | 69 | 0.0290 | 7 | c.202 others(26): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | chr17 | TogoVar | |||||||
BCAS4_chr20_50790061_50882177 | 50816791 | A | ATTTTTTT | intron_variant | MODIFIER | HG01123.hp1 HG01346.hp1 HG01361.hp2 others(12): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(5): Show | a0001c0001t0001g0004 a0001c0001t0003g0227 a0002c0002t0001g0026 others(12): Show |
15 | 104 | 0.1442 | 7 | c.91- others(22): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BCAS4_chr20_50790061_50882177 | 50872263 | C | CAAAAAAA | intron_variant | MODIFIER | HG01167.hp1 HG01952.hp2 HG02145.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(1): Show | a0001c0001t0001g0153 a0001c0001t0004g0052 a0001c0001t0004g0100 others(7): Show |
10 | 36 | 0.2778 | 7 | c.400 others(24): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24836895 | A | AAAGAAAG | intron_variant | MODIFIER | HG01978.hp2 NA18940.hp2 NA18956.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0064a0001c0001t0123 | a0001c0001t0003g0074 a0001c0001t0003g0080 a0001c0001t0003g0134 others(4): Show |
7 | 320 | 0.0219 | 7 | c.818 others(22): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 7/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24844894 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG01070.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0017others(4): Show | a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0001t0004g0187 others(16): Show |
19 | 83 | 0.2289 | 7 | c.675 others(24): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24871138 | A | ATGCCAAT | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00609.hp1 others(73): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0064 a0001c0001t0001g0094 a0001c0001t0001g0291 others(73): Show |
76 | 320 | 0.2375 | 7 | c.510 others(24): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 5/10 | chr12 | TogoVar |