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 | 159346617 | AAGTGGAG others(3): Show |
A | intron_variant | MODIFIER | NA18980.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0062 | 1 | 214 | 0.0047 | -10 | c.545 others(27): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 31/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159368858 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG00673.hp1 NA18985.hp2 NA18986.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0175 a0001c0001t0002g0198 a0001c0001t0002g0199 others(1): Show |
4 | 71 | 0.0563 | -10 | c.421 others(29): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 27/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159428862 | GCTTTTAC others(3): Show |
G | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 214 | 0.0047 | -10 | c.225 others(27): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 11/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159574142 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011 | 1 | 58 | 0.0172 | -10 | c.-45 others(29): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 1/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159590187 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp1 HG01106.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0161 a0001c0001t0002g0190 a0001c0001t0002g0191 others(1): Show |
4 | 60 | 0.0667 | -10 | c.-46 others(29): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 1/36 | chr2 | TogoVar | |||||||
BBOF1_chr14_74014349_74071092 | 74037274 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG02486.hp1 others(9): Show |
a0003a0004 | a0003c0003a0004c0006 | a0003c0003t0003a0004c0006t0001a0004c0006t0006 | a0003c0003t0003g0184 a0004c0006t0001g0130 a0004c0006t0001g0131 others(9): Show |
12 | 247 | 0.0486 | -10 | c.495 others(27): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BBOF1_chr14_74014349_74071092 | 74062051 | GAAAAAAA others(3): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0298 a0001c0001t0002g0300 |
2 | 160 | 0.0125 | -10 | c.157 others(29): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BBOX1_chr11_27035815_27132809 | 27085555 | ATCTCTCT others(3): Show |
A | intron_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0144 | 1 | 90 | 0.0111 | -10 | c.335 others(27): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BBOX1_chr11_27035815_27132809 | 27128344 | CTCGTCTA others(3): Show |
C | downstream_gene_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0142 | 1 | 316 | 0.0032 | -10 | c.*89 others(19): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 536 | chr11 | TogoVar | |||||||
BBS10_chr12_76339474_76353415 | 76353322 | GTCCTGGG others(3): Show |
G | upstream_gene_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 414 | 0.0024 | -10 | c.-49 others(21): Show |
BBS10 | ENSG00000179941.9 | transcript | ENST00000650064.2 | protein_coding | 4908 | chr12 | TogoVar | |||||||
BBS12_chr4_122727704_122749939 | 122733376 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG02735.hp1 HG02965.hp1 others(1): Show |
a0002a0004a0014 | a0002c0002a0004c0004a0014c0017 | a0002c0002t0002a0004c0004t0001a0014c0017t0001 | a0002c0002t0002g0048 a0004c0004t0001g0055 a0014c0017t0001g0050 |
4 | 71 | 0.0563 | -10 | c.-11 others(25): Show |
BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BBS1_chr11_66505635_66538598 | 66512020 | GTGTATAT others(3): Show |
G | intron_variant | MODIFIER | NA19067.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0239 a0001c0001t0002g0240 |
2 | 378 | 0.0053 | -10 | c.159 others(25): Show |
BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BBS2_chr16_56479385_56525024 | 56486748 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0042 | 1 | 351 | 0.0028 | -10 | c.191 others(29): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | TogoVar | |||||||
BBS2_chr16_56479385_56525024 | 56495766 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG02717.hp2 others(8): Show |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0037 a0003c0003t0003g0038 a0003c0003t0003g0271 others(6): Show |
11 | 109 | 0.1009 | -10 | c.191 others(29): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | TogoVar | |||||||
BBS4_chr15_72681207_72743473 | 72704882 | AAAAACAA others(3): Show |
A | intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0177 | 1 | 391 | 0.0026 | -10 | c.77- others(25): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72729161 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG03710.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0233 | 1 | 127 | 0.0079 | -10 | c.643 others(25): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS5_chr2_169474494_169511655 | 169489851 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG03579.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0008 | a0001c0001t0002g0092 a0001c0001t0002g0102 a0001c0002t0008g0213 others(3): Show |
6 | 18 | 0.3333 | -10 | c.386 others(27): Show |
BBS5 | ENSG00000163093.12 | transcript | ENST00000295240.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BBS7_chr4_121819329_121875474 | 121819939 | CTTTTTTT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0237 | 1 | 353 | 0.0028 | -10 | c.*59 others(21): Show |
BBS7 | ENSG00000138686.10 | transcript | ENST00000264499.9 | protein_coding | 4389 | chr4 | TogoVar | |||||||
BBS7_chr4_121819329_121875474 | 121868684 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01243.hp2 HG02015.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0099 others(4): Show |
8 | 46 | 0.1739 | -10 | c.37- others(23): Show |
BBS7 | ENSG00000138686.10 | transcript | ENST00000264499.9 | protein_coding | 1/18 | chr4 | TogoVar | |||||||
BBS9_chr7_33124564_33611069 | 33184097 | CAGAGAGA others(3): Show |
C | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0171 | 1 | 142 | 0.0070 | -10 | c.442 others(27): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33294343 | ATCTATCT others(3): Show |
A | intron_variant | MODIFIER | NA19010.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0060 | 1 | 248 | 0.0040 | -10 | c.101 others(31): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33368577 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 133 | 0.0075 | -10 | c.178 others(27): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33392700 | CCTTCAAT others(3): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp1 HG02809.hp1 others(6): Show |
a0001a0004 | a0001c0010a0001c0023a0004c0004others(1): Show | a0001c0010t0001a0001c0023t0001a0004c0004t0001others(1): Show | a0001c0010t0001g0079 a0001c0010t0001g0167 a0001c0023t0001g0168 others(6): Show |
9 | 266 | 0.0338 | -10 | c.211 others(29): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 19/22 | chr7 | TogoVar | |||||||
BBS9_chr7_33124564_33611069 | 33492811 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02723.hp2 HG03579.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0108 a0002c0002t0001g0137 a0002c0002t0001g0196 others(1): Show |
4 | 42 | 0.0952 | -10 | c.211 others(31): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33542699 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(131): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0009a0001c0010others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0055 others(131): Show |
134 | 225 | 0.5956 | -10 | c.252 others(29): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33542790 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00741.hp1 HG01109.hp2 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(3): Show | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0090 others(18): Show |
21 | 73 | 0.2877 | -10 | c.252 others(29): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33565781 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG02683.hp1 HG02738.hp2 others(1): Show |
a0001a0003a0012 | a0001c0001a0001c0025a0003c0003others(1): Show | a0001c0001t0001a0001c0025t0003a0003c0003t0001others(1): Show | a0001c0001t0001g0104 a0001c0025t0003g0030 a0003c0003t0001g0060 others(1): Show |
4 | 59 | 0.0678 | -10 | c.252 others(31): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33582523 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG01261.hp2 HG02602.hp2 HG03669.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0003 | a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0162 others(5): Show |
8 | 248 | 0.0323 | -10 | c.252 others(31): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33596290 | ACACACAC others(3): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp2 HG02622.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0013a0002c0002 | a0001c0001t0001a0001c0001t0010a0001c0001t0018others(3): Show | a0001c0001t0001g0131 a0001c0001t0010g0117 a0001c0001t0010g0170 others(4): Show |
7 | 257 | 0.0272 | -10 | c.252 others(29): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | chr7 | TogoVar | |||||||
BBS9_chr7_33124564_33611069 | 33597069 | TCACACAC others(3): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01496.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0106 a0001c0001t0001g0155 a0001c0001t0001g0157 others(1): Show |
4 | 81 | 0.0494 | -10 | c.252 others(29): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107530384 | CCAAAACA others(3): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01070.hp1 HG01256.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0002g0006 others(13): Show |
16 | 180 | 0.0889 | -10 | c.-84 others(27): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107602947 | TTTTTGTT others(3): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG03540.hp2 HG03579.hp1 |
a0003a0007 | a0003c0003a0007c0006 | a0003c0003t0030a0003c0003t0031a0007c0006t0046 | a0003c0003t0030g0016 a0003c0003t0031g0005 a0007c0006t0046g0004 |
3 | 177 | 0.0169 | -10 | c.-83 others(29): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107613941 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01081.hp2 HG01884.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0010others(8): Show | a0001c0001t0002g0205 a0001c0001t0002g0214 a0001c0001t0002g0216 others(14): Show |
17 | 154 | 0.1104 | -10 | c.-83 others(29): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107616005 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG02615.hp2 HG03579.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0016a0003c0003t0030 | a0001c0001t0001g0158 a0001c0001t0016g0210 a0003c0003t0030g0016 |
3 | 28 | 0.1071 | -10 | c.-83 others(29): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107638780 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG00738.hp2 HG01109.hp1 others(51): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 others(51): Show |
54 | 76 | 0.7105 | -10 | c.-83 others(27): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107713967 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01081.hp2 HG02809.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0051others(1): Show | a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0006g0046 others(4): Show |
7 | 106 | 0.0660 | -10 | c.163 others(27): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107779018 | TATACACA others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp2 HG00735.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0042 | a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0083 others(3): Show |
6 | 220 | 0.0273 | -10 | c.220 others(27): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BCAN_chr1_156637117_156664528 | 156643631 | CACACAGA others(3): Show |
C | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0290 | 1 | 393 | 0.0025 | -10 | c.-9+ others(25): Show |
BCAN | ENSG00000132692.19 | transcript | ENST00000329117.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BCAN_chr1_156637117_156664528 | 156661555 | CGTGTGTG others(3): Show |
C | downstream_gene_variant | MODIFIER | HG03098.hp2 HG03225.hp2 |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0002c0006t0001 | a0001c0001t0001g0060 a0002c0006t0001g0062 |
2 | 110 | 0.0182 | -10 | c.*24 others(21): Show |
BCAN | ENSG00000132692.19 | transcript | ENST00000329117.10 | protein_coding | 2028 | chr1 | TogoVar | |||||||
BCAP29_chr7_107575246_107625478 | 107598894 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp1 HG02155.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0059 a0001c0001t0001g0234 a0001c0001t0001g0235 others(4): Show |
7 | 32 | 0.2188 | -10 | c.481 others(27): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BCAP29_chr7_107575246_107625478 | 107612391 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02300.hp2 HG02809.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0130 others(2): Show |
5 | 113 | 0.0442 | -10 | c.590 others(25): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BCAR1_chr16_75223181_75256624 | 75234160 | GACAGACA others(3): Show |
G | intron_variant | MODIFIER | HG03225.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0175 | 1 | 263 | 0.0038 | -10 | c.201 others(27): Show |
BCAR1 | ENSG00000050820.17 | transcript | ENST00000162330.10 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
BCAR1_chr16_75223181_75256624 | 75245964 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0178 | 1 | 20 | 0.0500 | -10 | c.13- others(25): Show |
BCAR1 | ENSG00000050820.17 | transcript | ENST00000162330.10 | protein_coding | 1/6 | chr16 | TogoVar | |||||||
BCAR3_chr1_93556741_93686837 | 93675925 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 79 | 0.0127 | -10 | c.-11 others(25): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 53954294 | GGAGAGAG others(3): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(55): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0003others(7): Show | a0001c0001t0004a0001c0001t0012a0001c0001t0014others(28): Show | a0001c0001t0004g0336 a0001c0001t0012g0026 a0001c0001t0014g0332 others(52): Show |
58 | 84 | 0.6905 | -10 | c.155 others(27): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 11/12 | chr20 | TogoVar | |||||||
BCAS2_chr1_114562557_114586615 | 114576222 | CCTCTCTC others(3): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01074.hp1 HG01167.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 a0001c0001t0001g0163 a0001c0001t0001g0164 |
4 | 377 | 0.0106 | -10 | c.257 others(25): Show |
BCAS2 | ENSG00000116752.6 | transcript | ENST00000369541.4 | protein_coding | 3/6 | chr1 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 60683830 | TCAAAACA others(3): Show |
T | intron_variant | MODIFIER | HG02809.hp1 HG02965.hp2 HG03579.hp1 |
a0003 | a0003c0001a0003c0010 | a0003c0001t0001a0003c0001t0002a0003c0010t0002 | a0003c0001t0001g0028 a0003c0001t0002g0022 a0003c0010t0002g0023 |
3 | 74 | 0.0405 | -10 | c.84- others(23): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60770400 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02615.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0059 a0001c0002t0001g0071 |
2 | 6 | 0.3333 | -10 | c.403 others(29): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60974989 | TTGCTTTT others(3): Show |
T | intron_variant | MODIFIER | HG02922.hp2 HG03195.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0016 a0002c0003t0001g0017 |
2 | 70 | 0.0286 | -10 | c.122 others(31): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60985141 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0002 | 1 | 10 | 0.1000 | -10 | c.122 others(29): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |