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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BAZ2B_chr2_159313979_159621548 | 159491720 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03516.hp2 |
a0001a0014 | a0001c0001a0014c0025 | a0001c0001t0002a0014c0025t0001 | a0001c0001t0002g0133 a0014c0025t0001g0115 |
2 | 64 | 0.0313 | 18 | c.-2- others(35): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2/36 | chr2 | TogoVar | |||||||
BBC3_chr19_47215824_47236199 | 47228995 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0214 | 1 | 410 | 0.0024 | 18 | c.-15 others(33): Show |
BBC3 | ENSG00000105327.18 | transcript | ENST00000439096.3 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
BBOF1_chr14_74014349_74071092 | 74035584 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 a0001c0001t0003g0024 |
2 | 108 | 0.0185 | 18 | c.495 others(35): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BBOX1_chr11_27035815_27132809 | 27054234 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00621.hp1 HG01168.hp2 others(17): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0005t0003others(2): Show | a0001c0001t0001g0060 a0001c0001t0001g0096 a0001c0001t0001g0097 others(17): Show |
20 | 266 | 0.0752 | 18 | c.-38 others(35): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BBOX1_chr11_27035815_27132809 | 27057063 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0283 | 1 | 196 | 0.0051 | 18 | c.220 others(33): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 3/8 | chr11 | TogoVar | |||||||
BBS12_chr4_122727704_122749939 | 122733376 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0061 | 1 | 68 | 0.0147 | 18 | c.-11 others(33): Show |
BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BBS2_chr16_56479385_56525024 | 56480350 | C | CAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 378 | 0.0026 | 18 | c.*44 others(29): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 4034 | chr16 | TogoVar | |||||||
BBS2_chr16_56479385_56525024 | 56480352 | C | CAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 269 | 0.0037 | 18 | c.*44 others(29): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 4032 | chr16 | TogoVar | |||||||
BBS2_chr16_56479385_56525024 | 56480352 | C | CACAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG01192.hp2 HG01258.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0036 others(4): Show |
7 | 275 | 0.0255 | 18 | c.*44 others(29): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 4032 | chr16 | TogoVar | |||||||
BBS2_chr16_56479385_56525024 | 56480352 | C | CACACAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG03579.hp1 NA19091.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0009 |
3 | 271 | 0.0111 | 18 | c.*44 others(29): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 4032 | chr16 | TogoVar | |||||||
BBS4_chr15_72681207_72743473 | 72687124 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(111): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0276 others(109): Show |
114 | 127 | 0.8976 | 18 | c.24+ others(31): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72688411 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01070.hp2 HG01123.hp2 others(17): Show |
a0001a0007 | a0001c0001a0007c0013 | a0001c0001t0001a0007c0013t0001 | a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0036 others(16): Show |
20 | 37 | 0.5405 | 18 | c.24+ others(33): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72702802 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(32): Show |
a0001a0005a0006 | a0001c0001a0001c0007a0005c0010others(1): Show | a0001c0001t0001a0001c0007t0001a0005c0010t0001others(1): Show | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 others(32): Show |
35 | 53 | 0.6604 | 18 | c.77- others(33): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33188080 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00639.hp2 HG00642.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0221 a0001c0001t0001g0256 a0001c0001t0003g0008 others(17): Show |
20 | 97 | 0.2062 | 18 | c.442 others(37): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33231428 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 53 | 0.0189 | 18 | c.443 others(37): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33536676 | G | GGCCTTCC others(11): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00558.hp1 others(77): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0010a0001c0020others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0055 others(77): Show |
80 | 251 | 0.3187 | 18 | c.252 others(37): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33536681 | T | TCCCCCCG others(11): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 103 | 0.0097 | 18 | c.252 others(37): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107778994 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0208 | 1 | 89 | 0.0112 | 18 | c.220 others(35): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107797335 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0218 | 1 | 200 | 0.0050 | 18 | c.235 others(37): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107797337 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG03453.hp1 HG03516.hp2 HG03710.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0060 a0001c0001t0001g0148 a0001c0001t0001g0169 others(4): Show |
7 | 87 | 0.0805 | 18 | c.235 others(37): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107797364 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0049 | 1 | 158 | 0.0063 | 18 | c.235 others(37): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 15/17 | chr3 | TogoVar | |||||||
BCAN_chr1_156637117_156664528 | 156643631 | C | CAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 | 1 | 393 | 0.0025 | 18 | c.-9+ others(33): Show |
BCAN | ENSG00000132692.19 | transcript | ENST00000329117.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BCAN_chr1_156637117_156664528 | 156643633 | C | CAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG00408.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0135 a0001c0001t0002g0136 |
2 | 59 | 0.0339 | 18 | c.-9+ others(33): Show |
BCAN | ENSG00000132692.19 | transcript | ENST00000329117.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BCAP29_chr7_107575246_107625478 | 107612437 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0211 | 1 | 106 | 0.0094 | 18 | c.590 others(33): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BCAP29_chr7_107575246_107625478 | 107612437 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 106 | 0.0094 | 18 | c.590 others(33): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BCAR3_chr1_93556741_93686837 | 93573609 | T | TTTATTAT others(11): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0014 | a0002c0014t0001 | a0002c0014t0001g0065 | 1 | 189 | 0.0053 | 18 | c.180 others(37): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 8/11 | chr1 | TogoVar | |||||||
BCAR3_chr1_93556741_93686837 | 93573609 | T | TTTTTTAT others(11): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0010 | 1 | 189 | 0.0053 | 18 | c.180 others(37): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 8/11 | chr1 | TogoVar | |||||||
BCAR3_chr1_93556741_93686837 | 93593728 | A | AAACAACA others(11): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 135 | 0.0074 | 18 | c.358 others(35): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 3/11 | chr1 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 53941411 | T | TGTGTGTG others(11): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0257 | 1 | 251 | 0.0040 | 18 | c.*35 others(29): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 2129 | chr20 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 53954294 | G | GGAGAGAG others(11): Show |
intron_variant | MODIFIER | HG00621.hp2 HG03516.hp1 |
a0005a0019 | a0005c0005a0019c0022 | a0005c0005t0053a0019c0022t0013 | a0005c0005t0053g0265 a0019c0022t0013g0231 |
2 | 28 | 0.0714 | 18 | c.155 others(35): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 11/12 | chr20 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 53994888 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0149 | 1 | 159 | 0.0063 | 18 | c.927 others(33): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 6/12 | chr20 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 54041908 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01433.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0029 | a0001c0001t0002g0243 a0001c0001t0029g0249 |
2 | 238 | 0.0084 | 18 | c.143 others(37): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
BCAS2_chr1_114562557_114586615 | 114576431 | T | TTTATTAT others(11): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02886.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0201 others(1): Show |
4 | 295 | 0.0136 | 18 | c.257 others(33): Show |
BCAS2 | ENSG00000116752.6 | transcript | ENST00000369541.4 | protein_coding | 3/6 | chr1 | TogoVar | |||||||
BCAS2_chr1_114562557_114586615 | 114583493 | A | AACACACA others(11): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02572.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0055 a0001c0001t0003g0025 |
3 | 336 | 0.0089 | 18 | c.-19 others(29): Show |
BCAS2 | ENSG00000116752.6 | transcript | ENST00000369541.4 | protein_coding | 1879 | chr1 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 60700185 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0061 | 1 | 44 | 0.0227 | 18 | c.215 others(35): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 4/23 | chr17 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 60712164 | C | CAAAACAA others(11): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 41 | 0.0244 | 18 | c.321 others(35): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60802371 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03130.hp2 NA19240.hp1 |
a0002 | a0002c0005a0002c0007 | a0002c0005t0001a0002c0007t0001 | a0002c0005t0001g0019 a0002c0005t0001g0020 a0002c0007t0001g0004 |
3 | 35 | 0.0857 | 18 | c.404 others(35): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60814304 | T | TGCGCGCG others(11): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0072 | 1 | 33 | 0.0303 | 18 | c.476 others(35): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60814306 | T | TGCGCGCG others(11): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03041.hp2 HG03130.hp2 others(2): Show |
a0002 | a0002c0003a0002c0005a0002c0007 | a0002c0003t0001a0002c0005t0001a0002c0007t0001 | a0002c0003t0001g0052 a0002c0005t0001g0018 a0002c0005t0001g0019 others(2): Show |
5 | 19 | 0.2632 | 18 | c.476 others(35): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60955386 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02886.hp2 |
a0001a0002 | a0001c0002a0002c0007 | a0001c0002t0002a0002c0007t0001 | a0001c0002t0002g0053 a0002c0007t0001g0004 |
2 | 36 | 0.0556 | 18 | c.122 others(37): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60967949 | T | TTTGTTGT others(11): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03453.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0002c0003t0001 | a0001c0002t0002g0001 a0002c0003t0001g0041 |
2 | 34 | 0.0588 | 18 | c.122 others(39): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61044465 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0067 | 1 | 25 | 0.0400 | 18 | c.202 others(37): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61045823 | T | TTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG01256.hp2 HG02886.hp1 |
a0002a0003 | a0002c0003a0003c0001 | a0002c0003t0003a0003c0001t0001 | a0002c0003t0003g0013 a0003c0001t0001g0031 |
2 | 42 | 0.0476 | 18 | c.202 others(37): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61067273 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03579.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0066 a0001c0002t0002g0070 |
2 | 20 | 0.1000 | 18 | c.203 others(37): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61070366 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG00639.hp2 NA19030.hp1 NA19043.hp1 others(2): Show |
a0001a0003 | a0001c0002a0001c0004a0003c0001 | a0001c0002t0001a0001c0004t0001a0003c0001t0001 | a0001c0002t0001g0060 a0001c0004t0001g0043 a0003c0001t0001g0005 others(2): Show |
5 | 6 | 0.8333 | 18 | c.203 others(37): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61271424 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0059 | 1 | 2 | 0.5000 | 18 | c.242 others(39): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61285231 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02451.hp1 HG02818.hp1 others(6): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0003others(2): Show | a0001c0002t0001a0001c0004t0001a0001c0004t0002others(3): Show | a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0067 others(6): Show |
9 | 44 | 0.2045 | 18 | c.242 others(39): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61322834 | G | GAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0021 | 1 | 68 | 0.0147 | 18 | c.242 others(39): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61375246 | G | GTGCGCGC others(11): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0045 | 1 | 51 | 0.0196 | 18 | c.259 others(37): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61375246 | G | GTGTGCGC others(11): Show |
intron_variant | MODIFIER | HG02922.hp2 HG02965.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0015 a0002c0003t0001g0016 |
2 | 52 | 0.0385 | 18 | c.259 others(37): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |