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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BAZ2A_chr12_56590596_56635326 | 56597637 | G | GACACACA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG02109.hp1 HG02895.hp2 others(5): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0002t0012a0001c0002t0022others(2): Show | a0001c0002t0003g0093 a0001c0002t0003g0186 a0001c0002t0003g0192 others(5): Show |
8 | 102 | 0.0784 | 8 | c.*97 others(17): Show |
BAZ2A | ENSG00000076108.12 | transcript | ENST00000549884.6 | protein_coding | 29/29 | 980 | chr12 | TogoVar | ||||||
BAZ2A_chr12_56590596_56635326 | 56609023 | A | ACCACCAC others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02145.hp2 HG02280.hp1 others(17): Show |
a0001a0010 | a0001c0003a0010c0015 | a0001c0003t0002a0001c0003t0007a0001c0003t0009others(4): Show | a0001c0003t0002g0025 a0001c0003t0002g0183 a0001c0003t0002g0197 others(13): Show |
20 | 314 | 0.0637 | 8 | c.209 others(25): Show |
BAZ2A | ENSG00000076108.12 | transcript | ENST00000549884.6 | protein_coding | 10/28 | chr12 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159389093 | A | ACAACCAA others(1): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01257.hp1 HG01258.hp2 others(7): Show |
a0001a0012 | a0001c0001a0012c0012 | a0001c0001t0001a0001c0001t0002a0012c0012t0001 | a0001c0001t0001g0029 a0001c0001t0001g0095 a0001c0001t0001g0096 others(7): Show |
10 | 115 | 0.0870 | 8 | c.321 others(25): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 21/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159415444 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02965.hp1 NA18946.hp1 others(7): Show |
a0001a0006a0018others(1): Show | a0001c0001a0006c0006a0018c0026others(1): Show | a0001c0001t0001a0001c0001t0002a0006c0006t0002others(2): Show | a0001c0001t0001g0082 a0001c0001t0001g0118 a0001c0001t0002g0164 others(7): Show |
10 | 28 | 0.3571 | 8 | c.246 others(27): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 13/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159604932 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(58): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0008a0001c0020others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0002others(11): Show | a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0095 others(58): Show |
61 | 176 | 0.3466 | 8 | c.-46 others(27): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 1/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159604951 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 NA20129.hp2 |
a0001a0011 | a0001c0001a0011c0024 | a0001c0001t0001a0011c0024t0001 | a0001c0001t0001g0032 a0011c0024t0001g0088 |
2 | 116 | 0.0172 | 8 | c.-46 others(27): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 1/36 | chr2 | TogoVar | |||||||
BBC3_chr19_47215824_47236199 | 47217194 | C | CTTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG00741.hp2 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0051 others(39): Show |
50 | 83 | 0.6024 | 8 | c.*46 others(19): Show |
BBC3 | ENSG00000105327.18 | transcript | ENST00000439096.3 | protein_coding | 3629 | chr19 | TogoVar | |||||||
BBLN_chr9_128155265_128168924 | 128155573 | G | GCCCCCCC others(1): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG00738.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(6): Show |
27 | 196 | 0.1378 | 8 | c.-48 others(19): Show |
BBLN | ENSG00000171159.5 | transcript | ENST00000372994.2 | protein_coding | 4691 | chr9 | TogoVar | |||||||
BBOF1_chr14_74014349_74071092 | 74038021 | A | ACCACTTA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(283): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0008others(12): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(23): Show | a0001c0001t0002g0004 a0001c0001t0002g0021 a0001c0001t0002g0022 others(263): Show |
286 | 384 | 0.7448 | 8 | c.496 others(25): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BBOF1_chr14_74014349_74071092 | 74042879 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01168.hp2 HG01169.hp1 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0002 a0001c0004t0004g0114 a0001c0004t0004g0125 others(3): Show |
6 | 105 | 0.0571 | 8 | c.576 others(25): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BBOF1_chr14_74014349_74071092 | 74047407 | C | CTTTATTT others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01175.hp1 HG01243.hp1 others(26): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0003a0002c0002t0001a0002c0002t0010others(4): Show | a0001c0001t0003g0340 a0002c0002t0001g0017 a0002c0002t0001g0193 others(25): Show |
29 | 245 | 0.1184 | 8 | c.648 others(23): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BBOX1_chr11_27035815_27132809 | 27038522 | T | TACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(45): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(6): Show | a0001c0001t0001g0008 a0001c0001t0001g0026 a0001c0001t0001g0027 others(40): Show |
48 | 109 | 0.4404 | 8 | c.-28 others(19): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 2292 | chr11 | TogoVar | |||||||
BBOX1_chr11_27035815_27132809 | 27057063 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01496.hp1 HG02723.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0018 a0001c0002t0001g0004 a0001c0002t0001g0062 others(1): Show |
6 | 201 | 0.0299 | 8 | c.220 others(23): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 3/8 | chr11 | TogoVar | |||||||
BBOX1_chr11_27035815_27132809 | 27085555 | A | ATCTCTCT others(1): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01123.hp2 HG01169.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0121 a0001c0001t0001g0192 a0001c0001t0001g0214 others(4): Show |
7 | 96 | 0.0729 | 8 | c.335 others(25): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BBS12_chr4_122727704_122749939 | 122733376 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01106.hp2 HG02109.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0002a0003c0003t0003 | a0001c0001t0001g0037 a0002c0002t0002g0046 a0002c0002t0002g0097 others(3): Show |
8 | 75 | 0.1067 | 8 | c.-11 others(23): Show |
BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BBS2_chr16_56479385_56525024 | 56523702 | C | CTTTTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG02135.hp1 others(5): Show |
a0001a0004 | a0001c0008a0004c0004 | a0001c0008t0003a0004c0004t0002a0004c0004t0005 | a0001c0008t0003g0278 a0004c0004t0002g0039 a0004c0004t0002g0040 others(5): Show |
8 | 339 | 0.0236 | 8 | c.-38 others(19): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 3679 | chr16 | TogoVar | |||||||
BBS2_chr16_56479385_56525024 | 56524666 | T | TTTTGTTT others(1): Show |
upstream_gene_variant | MODIFIER | NA18941.hp2 NA18962.hp1 NA19065.hp1 others(1): Show |
a0002 | a0002c0002a0002c0012 | a0002c0002t0004a0002c0012t0004 | a0002c0002t0004g0027 a0002c0002t0004g0122 a0002c0012t0004g0121 |
4 | 358 | 0.0112 | 8 | c.-48 others(19): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 4643 | chr16 | TogoVar | |||||||
BBS4_chr15_72681207_72743473 | 72689780 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01099.hp2 HG01358.hp2 others(19): Show |
a0001a0002a0010 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(3): Show | a0001c0001t0001g0311 a0001c0001t0001g0330 a0001c0001t0001g0331 others(19): Show |
22 | 256 | 0.0859 | 8 | c.24+ others(23): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72713314 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00642.hp1 HG00741.hp1 others(53): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0172 others(53): Show |
56 | 229 | 0.2445 | 8 | c.220 others(25): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72713347 | A | ACACACAC others(1): Show |
intron_variant | MODIFIER | NA18941.hp1 NA18954.hp1 NA19000.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0203 a0002c0002t0001g0238 a0002c0002t0001g0241 others(1): Show |
4 | 392 | 0.0102 | 8 | c.220 others(25): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS7_chr4_121819329_121875474 | 121832009 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00738.hp2 others(32): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(27): Show |
35 | 162 | 0.2160 | 8 | c.167 others(27): Show |
BBS7 | ENSG00000138686.10 | transcript | ENST00000264499.9 | protein_coding | 15/18 | chr4 | TogoVar | |||||||
BBS9_chr7_33124564_33611069 | 33147934 | G | GCCTGGAT others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG00642.hp2 others(36): Show |
a0001a0002a0015 | a0001c0001a0001c0025a0002c0002others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0013others(7): Show | a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0019 others(36): Show |
39 | 266 | 0.1466 | 8 | c.112 others(25): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33184097 | C | CAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02155.hp1 HG02293.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 others(6): Show |
9 | 150 | 0.0600 | 8 | c.442 others(25): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33188080 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02723.hp2 HG02976.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0002a0002c0002t0007others(1): Show | a0001c0001t0003g0038 a0002c0002t0002g0123 a0002c0002t0007g0166 others(1): Show |
4 | 81 | 0.0494 | 8 | 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 | 33328993 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00738.hp2 HG01106.hp1 others(31): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0010a0004c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0075 a0001c0001t0001g0132 a0001c0001t0001g0133 others(31): Show |
34 | 122 | 0.2787 | 8 | c.101 others(27): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33329025 | A | ATTTATTT others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG02056.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0158 others(1): Show |
4 | 264 | 0.0152 | 8 | c.101 others(27): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33368577 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03492.hp2 NA19030.hp2 |
a0001a0004 | a0001c0001a0001c0010a0004c0004 | a0001c0001t0003a0001c0010t0001a0004c0004t0001 | a0001c0001t0003g0020 a0001c0010t0001g0079 a0004c0004t0001g0186 |
3 | 135 | 0.0222 | 8 | c.178 others(25): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33384715 | T | TGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02109.hp2 HG02258.hp2 others(1): Show |
a0005 | a0005c0005 | a0005c0005t0001a0005c0005t0007 | a0005c0005t0001g0139 a0005c0005t0001g0180 a0005c0005t0007g0128 others(1): Show |
4 | 221 | 0.0181 | 8 | c.196 others(25): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33384715 | T | TGTGAGAG others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01168.hp1 HG01496.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0163 a0001c0001t0003g0038 a0001c0001t0004g0013 others(2): Show |
5 | 222 | 0.0225 | 8 | c.196 others(25): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33386455 | C | CATTTATT others(1): Show |
intron_variant | MODIFIER | HG01496.hp2 NA18944.hp1 NA18946.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008 | a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0062 others(3): Show |
6 | 66 | 0.0909 | 8 | c.196 others(27): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33492811 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01175.hp2 HG02965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0002g0080 others(1): Show |
4 | 42 | 0.0952 | 8 | c.211 others(29): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33574684 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01517.hp1 HG02155.hp2 NA18946.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0002c0002t0004 | a0001c0001t0001g0097 a0001c0001t0006g0054 a0002c0002t0004g0007 |
3 | 170 | 0.0176 | 8 | 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 | 33596299 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02572.hp1 HG02615.hp2 others(8): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0013a0002c0002t0001others(2): Show | a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0114 others(8): Show |
11 | 142 | 0.0775 | 8 | c.252 others(27): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | chr7 | TogoVar | |||||||
BBS9_chr7_33124564_33611069 | 33596359 | T | TTATCTAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00558.hp2 others(71): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0010a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0045 a0001c0001t0001g0065 a0001c0001t0001g0075 others(71): Show |
74 | 102 | 0.7255 | 8 | c.252 others(27): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33596391 | C | CTATCTAT others(1): Show |
intron_variant | MODIFIER | HG02559.hp2 HG06807.hp1 NA18522.hp2 |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0012 | a0001c0001t0003a0002c0002t0007a0006c0012t0007 | a0001c0001t0003g0036 a0002c0002t0007g0165 a0006c0012t0007g0235 |
3 | 247 | 0.0121 | 8 | c.252 others(27): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107565443 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00733.hp2 others(67): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0093 others(67): Show |
70 | 96 | 0.7292 | 8 | 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 | 107592360 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02723.hp1 HG02895.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0008a0001c0001t0011a0003c0003t0008 | a0001c0001t0008g0043 a0001c0001t0008g0111 a0001c0001t0011g0190 others(2): Show |
5 | 25 | 0.2000 | 8 | 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 | 107692170 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01192.hp2 HG01243.hp2 others(16): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0009 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(10): Show | a0001c0001t0002g0205 a0001c0001t0004g0072 a0001c0001t0004g0218 others(16): Show |
19 | 169 | 0.1124 | 8 | c.-9- others(25): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107737884 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01070.hp2 HG02055.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0002g0181 a0001c0001t0002g0215 a0001c0001t0005g0027 others(6): Show |
9 | 39 | 0.2308 | 8 | c.669 others(25): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107769227 | T | TAGATAGA others(1): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0024 a0001c0001t0002g0181 |
2 | 135 | 0.0148 | 8 | c.907 others(25): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107769231 | C | CAGACAGA others(1): Show |
intron_variant | MODIFIER | HG01099.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0194 a0001c0001t0006g0179 |
2 | 115 | 0.0174 | 8 | c.907 others(25): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107778994 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01257.hp1 HG01517.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0148 a0001c0001t0002g0216 a0001c0001t0003g0069 others(8): Show |
11 | 99 | 0.1111 | 8 | c.220 others(25): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BCAM_chr19_44804103_44826421 | 44804794 | G | GTCACCTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00558.hp1 HG00639.hp1 others(61): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0112 a0001c0001t0001g0118 others(37): Show |
64 | 408 | 0.1569 | 8 | c.-43 others(19): Show |
BCAM | ENSG00000187244.12 | transcript | ENST00000270233.12 | protein_coding | 4308 | chr19 | TogoVar | |||||||
BCAN_chr1_156637117_156664528 | 156643633 | C | CAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(103): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0010 a0001c0001t0001g0102 a0001c0001t0001g0105 others(52): Show |
106 | 163 | 0.6503 | 8 | c.-9+ others(23): Show |
BCAN | ENSG00000132692.19 | transcript | ENST00000329117.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BCAN_chr1_156637117_156664528 | 156643635 | C | CAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG03669.hp2 NA18952.hp2 NA18966.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0006 a0001c0001t0002g0159 a0002c0002t0001g0067 |
8 | 18 | 0.4444 | 8 | c.-9+ others(23): Show |
BCAN | ENSG00000132692.19 | transcript | ENST00000329117.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BCAN_chr1_156637117_156664528 | 156661555 | C | CGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG01109.hp2 HG01884.hp1 others(30): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0003others(5): Show | a0001c0001t0001a0002c0002t0001a0002c0003t0001others(6): Show | a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0056 others(25): Show |
33 | 141 | 0.2340 | 8 | c.*24 others(19): Show |
BCAN | ENSG00000132692.19 | transcript | ENST00000329117.10 | protein_coding | 2028 | chr1 | TogoVar | |||||||
BCAP29_chr7_107575246_107625478 | 107594489 | T | TTTTGTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(275): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(246): Show |
278 | 370 | 0.7514 | 8 | c.344 others(23): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BCAP29_chr7_107575246_107625478 | 107612391 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG01346.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0252 a0001c0001t0002g0259 a0001c0001t0002g0277 others(8): Show |
11 | 119 | 0.0924 | 8 | c.590 others(23): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BCAP29_chr7_107575246_107625478 | 107612433 | A | ATATTTAT others(1): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03516.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0241 |
3 | 183 | 0.0164 | 8 | c.590 others(23): 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(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00621.hp1 HG00733.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0341 a0001c0001t0002g0256 a0001c0001t0003g0017 others(5): Show |
9 | 114 | 0.0789 | 8 | c.590 others(23): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |