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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BBC3_chr19_47215824_47236199 | 47233371 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG01175.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 others(21): Show |
24 | 249 | 0.0964 | 5 | c.-24 others(16): Show |
BBC3 | ENSG00000105327.18 | transcript | ENST00000439096.3 | protein_coding | 2173 | chr19 | TogoVar | |||||||
BBLN_chr9_128155265_128168924 | 128155573 | G | GCCCCC | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0019 others(2): Show |
16 | 185 | 0.0865 | 5 | c.-48 others(16): Show |
BBLN | ENSG00000171159.5 | transcript | ENST00000372994.2 | protein_coding | 4691 | chr9 | TogoVar | |||||||
BBLN_chr9_128155265_128168924 | 128161087 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00741.hp1 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0027 others(6): Show |
45 | 80 | 0.5625 | 5 | c.79+ others(18): Show |
BBLN | ENSG00000171159.5 | transcript | ENST00000372994.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
BBOF1_chr14_74014349_74071092 | 74035584 | A | ATTTTT | intron_variant | MODIFIER | HG00423.hp1 HG00735.hp2 HG01167.hp1 others(12): Show |
a0001a0013 | a0001c0001a0013c0018 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(1): Show | a0001c0001t0002g0004 a0001c0001t0002g0282 a0001c0001t0002g0289 others(12): Show |
15 | 121 | 0.1240 | 5 | c.495 others(22): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BBOF1_chr14_74014349_74071092 | 74045302 | A | ATTCTT | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(133): Show |
a0001a0005a0009others(2): Show | a0001c0001a0001c0008a0005c0005others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(10): Show | a0001c0001t0002g0004 a0001c0001t0002g0021 a0001c0001t0002g0022 others(125): Show |
136 | 384 | 0.3542 | 5 | c.577 others(20): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BBOX1_chr11_27035815_27132809 | 27046918 | A | ATGTTT | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00621.hp2 others(79): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0012others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0017 others(68): Show |
82 | 135 | 0.6074 | 5 | c.-39 others(22): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BBOX1_chr11_27035815_27132809 | 27057064 | T | TAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00639.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0014a0001c0002t0004others(5): Show | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 others(11): Show |
14 | 16 | 0.8750 | 5 | c.220 others(20): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BBOX1_chr11_27035815_27132809 | 27089205 | A | ATAAAG | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(312): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(281): Show |
315 | 316 | 0.9968 | 5 | c.335 others(22): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BBOX1_chr11_27035815_27132809 | 27128036 | C | CTGTTT | downstream_gene_variant | MODIFIER | HG02135.hp1 HG03491.hp2 HG03492.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0006 a0001c0002t0004g0125 a0001c0002t0004g0128 others(4): Show |
9 | 77 | 0.1169 | 5 | c.*58 others(14): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 228 | chr11 | TogoVar | |||||||
BBS1_chr11_66505635_66538598 | 66537926 | C | CAAATA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp1 others(118): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0009a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0151 a0001c0001t0001g0176 others(80): Show |
121 | 266 | 0.4549 | 5 | c.*58 others(16): Show |
BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 4329 | chr11 | TogoVar | |||||||
BBS4_chr15_72681207_72743473 | 72688411 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(81): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0006 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0291 others(79): Show |
84 | 101 | 0.8317 | 5 | c.24+ others(20): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72702802 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(70): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0006 | a0001c0001t0001a0001c0001t0011a0002c0002t0001others(2): Show | a0001c0001t0001g0190 a0001c0001t0001g0276 a0001c0001t0001g0389 others(69): Show |
73 | 91 | 0.8022 | 5 | c.77- others(20): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72704882 | A | AAAAAC | intron_variant | MODIFIER | HG01884.hp2 HG02622.hp1 HG03225.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0001a0001c0007t0001a0002c0002t0001 | a0001c0001t0001g0155 a0001c0001t0001g0336 a0001c0007t0001g0054 others(1): Show |
4 | 394 | 0.0102 | 5 | c.77- others(20): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72710195 | G | GTTCTT | intron_variant | MODIFIER | HG00438.hp1 HG00741.hp2 HG01071.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0336 a0002c0002t0001g0003 a0002c0002t0001g0159 others(11): Show |
15 | 48 | 0.3125 | 5 | c.156 others(20): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33195732 | T | TTTATC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(213): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0009a0001c0010others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0045 others(213): Show |
216 | 266 | 0.8120 | 5 | c.442 others(24): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33389687 | T | TAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG01261.hp1 HG01884.hp2 others(8): Show |
a0001 | a0001c0001a0001c0009a0001c0021 | a0001c0001t0001a0001c0001t0002a0001c0009t0001others(1): Show | a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0229 others(8): Show |
11 | 88 | 0.1250 | 5 | c.211 others(24): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33565844 | T | TATATA | intron_variant | MODIFIER | HG02257.hp1 HG02976.hp2 HG03453.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0017 | a0001c0001t0001a0001c0001t0003a0002c0017t0001 | a0001c0001t0001g0119 a0001c0001t0001g0261 a0001c0001t0003g0038 others(1): Show |
4 | 111 | 0.0360 | 5 | c.252 others(26): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | chr7 | TogoVar | |||||||
BBX_chr3_107517962_107816339 | 107530384 | C | CCAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00733.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0041 a0001c0001t0001g0105 a0001c0001t0001g0112 others(32): Show |
35 | 199 | 0.1759 | 5 | c.-84 others(22): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107565437 | G | GTTTTA | intron_variant | MODIFIER | HG02572.hp1 HG02630.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 a0001c0001t0001g0090 a0001c0001t0001g0130 |
3 | 220 | 0.0136 | 5 | c.-84 others(24): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107737884 | G | GTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG01516.hp1 HG01934.hp1 others(13): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(6): Show | a0001c0001t0001g0172 a0001c0001t0001g0206 a0001c0001t0002g0031 others(13): Show |
16 | 46 | 0.3478 | 5 | c.669 others(22): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BCAM_chr19_44804103_44826421 | 44823716 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00673.hp2 HG01099.hp1 others(17): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(4): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0005 others(12): Show |
20 | 126 | 0.1587 | 5 | c.*27 others(16): Show |
BCAM | ENSG00000187244.12 | transcript | ENST00000270233.12 | protein_coding | 2296 | chr19 | TogoVar | |||||||
BCAP29_chr7_107575246_107625478 | 107580400 | A | ACCCGG | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp1 HG02280.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(1): Show |
4 | 396 | 0.0101 | 5 | c.-15 others(20): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BCAP29_chr7_107575246_107625478 | 107599203 | A | ATAATT | intron_variant | MODIFIER | HG00544.hp2 NA18951.hp2 NA18957.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0125 a0001c0001t0001g0141 |
4 | 396 | 0.0101 | 5 | c.481 others(22): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BCAP29_chr7_107575246_107625478 | 107599227 | T | TTTTTA | intron_variant | MODIFIER | HG00544.hp2 NA18951.hp2 NA18957.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0125 a0001c0001t0001g0141 |
4 | 137 | 0.0292 | 5 | c.481 others(22): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BCAP29_chr7_107575246_107625478 | 107599270 | A | ATAATT | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp2 HG02818.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0013 | a0001c0001t0007g0322 a0001c0001t0007g0345 a0001c0001t0007g0347 others(2): Show |
5 | 394 | 0.0127 | 5 | c.481 others(22): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BCAR1_chr16_75223181_75256624 | 75245964 | C | CTTTTT | intron_variant | MODIFIER | HG00738.hp1 HG01175.hp2 HG02015.hp1 others(24): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0043others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(5): Show | a0001c0001t0002g0001 a0001c0001t0002g0099 a0001c0001t0002g0101 others(16): Show |
27 | 46 | 0.5870 | 5 | c.13- others(20): Show |
BCAR1 | ENSG00000050820.17 | transcript | ENST00000162330.10 | protein_coding | 1/6 | chr16 | TogoVar | |||||||
BCAR3_chr1_93556741_93686837 | 93556890 | A | AGACTT | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(105): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0009others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0011 others(101): Show |
108 | 200 | 0.5400 | 5 | c.*53 others(16): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 4850 | chr1 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 53965275 | G | GGTTTT | intron_variant | MODIFIER | HG02615.hp1 NA18971.hp2 NA18994.hp1 others(1): Show |
a0003a0007 | a0003c0003a0007c0008 | a0003c0003t0005a0007c0008t0009 | a0003c0003t0005g0003 a0003c0003t0005g0040 a0007c0008t0009g0244 |
4 | 362 | 0.0110 | 5 | c.148 others(24): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 10/12 | chr20 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 54065164 | C | CTATCT | intron_variant | MODIFIER | HG01192.hp1 HG02155.hp2 HG02523.hp2 others(4): Show |
a0001a0006 | a0001c0001a0001c0007a0006c0006 | a0001c0001t0004a0001c0001t0014a0001c0001t0015others(3): Show | a0001c0001t0004g0336 a0001c0001t0004g0346 a0001c0001t0014g0332 others(4): Show |
7 | 345 | 0.0203 | 5 | c.-6+ others(20): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 60706760 | A | AAAAAC | intron_variant | MODIFIER | HG01099.hp1 HG01891.hp1 HG01952.hp2 others(27): Show |
a0001a0004 | a0001c0002a0001c0004a0001c0008others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(3): Show | a0001c0002t0001g0056 a0001c0002t0001g0059 a0001c0002t0001g0060 others(27): Show |
30 | 74 | 0.4054 | 5 | c.215 others(22): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60720131 | G | GTTTTC | intron_variant | MODIFIER | HG02818.hp1 HG02886.hp1 HG02922.hp2 others(3): Show |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0002a0002c0003t0001a0002c0003t0003 | a0001c0004t0002g0035 a0002c0003t0001g0015 a0002c0003t0001g0016 others(3): Show |
6 | 74 | 0.0811 | 5 | c.321 others(24): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60724420 | C | CAAAAA | intron_variant | MODIFIER | HG01099.hp1 HG01952.hp2 HG03225.hp2 others(3): Show |
a0001a0002a0004 | a0001c0002a0001c0004a0002c0003others(1): Show | a0001c0002t0002a0001c0004t0001a0001c0004t0002others(2): Show | a0001c0002t0002g0054 a0001c0002t0002g0057 a0001c0004t0001g0043 others(3): Show |
6 | 57 | 0.1053 | 5 | c.321 others(24): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60735429 | T | TTTTTA | intron_variant | MODIFIER | HG01099.hp1 HG01891.hp1 HG01952.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0002c0003others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(6): Show | a0001c0002t0001g0056 a0001c0002t0002g0053 a0001c0002t0002g0054 others(13): Show |
16 | 74 | 0.2162 | 5 | c.322 others(24): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60735591 | C | CCACAG | intron_variant | MODIFIER | HG01099.hp1 HG01891.hp1 HG01952.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0002c0003others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(6): Show | a0001c0002t0001g0056 a0001c0002t0002g0053 a0001c0002t0002g0054 others(13): Show |
16 | 74 | 0.2162 | 5 | c.322 others(24): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60799520 | G | GTTTTT | intron_variant | MODIFIER | HG00639.hp1 HG02559.hp2 HG02965.hp1 |
a0002a0003 | a0002c0003a0002c0006a0003c0001 | a0002c0003t0001a0002c0006t0002a0003c0001t0002 | a0002c0003t0001g0015 a0002c0006t0002g0027 a0003c0001t0002g0029 |
3 | 34 | 0.0882 | 5 | c.404 others(22): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60855452 | A | ATTTTT | intron_variant | MODIFIER | HG01891.hp1 HG02083.hp2 HG02970.hp1 others(4): Show |
a0001a0002a0003 | a0001c0004a0002c0003a0003c0001 | a0001c0004t0001a0001c0004t0002a0002c0003t0001others(1): Show | a0001c0004t0001g0034 a0001c0004t0001g0043 a0001c0004t0001g0047 others(4): Show |
7 | 66 | 0.1061 | 5 | c.477 others(24): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60880955 | T | TTTTTG | intron_variant | MODIFIER | HG00639.hp1 HG01099.hp1 HG01256.hp2 others(58): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0001c0008others(7): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(13): Show | a0001c0002t0001g0042 a0001c0002t0001g0056 a0001c0002t0001g0059 others(58): Show |
61 | 74 | 0.8243 | 5 | c.661 others(22): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 9/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60976020 | C | CTTTTT | intron_variant | MODIFIER | HG02809.hp1 HG03225.hp1 HG03225.hp2 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0004a0002c0003a0003c0001others(1): Show | a0001c0004t0001a0002c0003t0001a0003c0001t0001others(2): Show | a0001c0004t0001g0058 a0002c0003t0001g0052 a0003c0001t0001g0028 others(2): Show |
5 | 11 | 0.4545 | 5 | c.122 others(26): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61045912 | T | TATATA | intron_variant | MODIFIER | HG01099.hp1 HG02559.hp1 HG02615.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0002a0002c0003t0001 | a0001c0002t0001g0056 a0001c0002t0002g0054 a0002c0003t0001g0038 others(1): Show |
4 | 61 | 0.0656 | 5 | c.202 others(24): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | chr17 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 61191780 | A | AAAAAG | intron_variant | MODIFIER | HG00639.hp2 HG01099.hp2 HG01256.hp1 others(19): Show |
a0001a0002a0003 | a0001c0004a0001c0008a0002c0003others(3): Show | a0001c0004t0001a0001c0008t0002a0002c0003t0001others(5): Show | a0001c0004t0001g0049 a0001c0008t0002g0062 a0002c0003t0001g0015 others(19): Show |
22 | 50 | 0.4400 | 5 | c.242 others(28): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61216516 | G | GTTTAT | intron_variant | MODIFIER | HG00639.hp2 HG01099.hp1 HG01099.hp2 others(34): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0003others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(10): Show | a0001c0002t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0065 others(34): Show |
37 | 44 | 0.8409 | 5 | c.242 others(28): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61278029 | G | GTTTGT | intron_variant | MODIFIER | HG03098.hp2 NA18906.hp1 |
a0001a0003 | a0001c0004a0003c0001 | a0001c0004t0001a0003c0001t0001 | a0001c0004t0001g0046 a0003c0001t0001g0026 |
2 | 74 | 0.0270 | 5 | c.242 others(26): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61298822 | A | ATTTAT | intron_variant | MODIFIER | HG01099.hp2 HG02083.hp2 HG02615.hp1 others(7): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0003others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(5): Show | a0001c0002t0001g0056 a0001c0002t0002g0070 a0001c0004t0001g0045 others(7): Show |
10 | 65 | 0.1538 | 5 | c.242 others(26): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS4_chr20_50790061_50882177 | 50796485 | A | ATTTTT | intron_variant | MODIFIER | HG00423.hp1 HG02071.hp2 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0108 a0001c0001t0001g0160 a0001c0001t0002g0002 |
3 | 161 | 0.0186 | 5 | c.90+ others(20): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BCAS4_chr20_50790061_50882177 | 50796487 | A | ATATAT | intron_variant | MODIFIER | HG00621.hp2 HG01346.hp2 HG01952.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0137 a0001c0001t0001g0159 a0001c0001t0001g0178 others(4): Show |
7 | 59 | 0.1186 | 5 | c.90+ others(20): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BCAS4_chr20_50790061_50882177 | 50796487 | A | ATATTT | intron_variant | MODIFIER | HG00558.hp1 HG00738.hp2 HG01070.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0116 others(14): Show |
17 | 69 | 0.2464 | 5 | c.90+ others(20): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BCAS4_chr20_50790061_50882177 | 50796487 | A | ATTTTT | intron_variant | MODIFIER | HG00280.hp2 HG01496.hp2 HG02257.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0153 others(5): Show |
8 | 60 | 0.1333 | 5 | c.90+ others(20): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BCAS4_chr20_50790061_50882177 | 50796488 | T | TATATA | intron_variant | MODIFIER | HG02273.hp2 HG02293.hp1 HG03831.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0002 | a0001c0001t0001g0115 a0001c0001t0003g0073 a0002c0002t0002g0050 |
3 | 259 | 0.0116 | 5 | c.90+ others(20): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | chr20 | TogoVar | |||||||
BCAS4_chr20_50790061_50882177 | 50863248 | C | CTTTTT | intron_variant | MODIFIER | HG02895.hp1 HG02922.hp2 HG03195.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0157 a0001c0001t0002g0225 a0001c0001t0002g0248 others(3): Show |
6 | 186 | 0.0323 | 5 | c.400 others(24): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BCAS4_chr20_50790061_50882177 | 50872263 | C | CAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG01167.hp2 HG01243.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0004t0005 | a0001c0001t0005g0127 a0001c0001t0005g0203 a0001c0001t0005g0204 others(4): Show |
7 | 33 | 0.2121 | 5 | c.400 others(22): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |