regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BBS12_chr4_122727704_122749939 | 122733376 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0064 | 1 | 364 | 0.0028 | 14 | c.-11 others(29): Show |
BBS12 | ENSG00000181004.10 | transcript | ENST00000314218.8 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BBS2_chr16_56479385_56525024 | 56480352 | C | CAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083a0001c0001t0001g0144 | 2 | 398 | 0.0050 | 14 | c.*44 others(25): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 4032 | chr16 | TogoVar | ||||||
BBS2_chr16_56479385_56525024 | 56480352 | C | CACAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 398 | 0.0025 | 14 | c.*44 others(25): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 4032 | chr16 | TogoVar | ||||||
BBS2_chr16_56479385_56525024 | 56480355 | A | AAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0069a0001c0001t0001g0077others(10): Show | 21 | 398 | 0.0528 | 14 | c.*44 others(25): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 4029 | chr16 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72687124 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp2 others(113): Show |
a0001a0005a0006others(2): Show | a0001c0001a0001c0007a0005c0011others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0028a0001c0001t0001g0029others(112): Show | 116 | 398 | 0.2915 | 14 | c.24+ others(27): 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(7): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0370 | 1 | 398 | 0.0025 | 14 | c.220 others(31): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBS4_chr15_72681207_72743473 | 72725719 | C | CCTTCCCC others(7): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0021 | 1 | 398 | 0.0025 | 14 | c.587 others(31): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBS4_chr15_72681207_72743473 | 72725794 | T | TCTTCCCC others(7): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0361 | 1 | 398 | 0.0025 | 14 | c.587 others(31): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBS4_chr15_72681207_72743473 | 72725798 | C | CCCCCATC others(7): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01358.hp1 HG01516.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0033a0001c0001t0001g0084a0001c0001t0001g0090others(13): Show | 16 | 398 | 0.0402 | 14 | c.587 others(31): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBS4_chr15_72681207_72743473 | 72725812 | C | CCCCCATC others(7): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0008 | 1 | 398 | 0.0025 | 14 | c.587 others(31): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBS4_chr15_72681207_72743473 | 72725917 | C | CCCCCTTC others(7): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03540.hp1 |
a0001a0003 | a0001c0007a0003c0005 | a0001c0007t0001a0003c0005t0003 | a0001c0007t0001g0052a0003c0005t0003g0350 | 2 | 398 | 0.0050 | 14 | c.587 others(31): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBS7_chr4_121819329_121875474 | 121832009 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03041.hp1 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0151a0001c0001t0001g0179 | 4 | 374 | 0.0107 | 14 | c.167 others(33): Show |
BBS7 | ENSG00000138686.10 | transcript | ENST00000264499.9 | protein_coding | 15/18 | chr4 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33188080 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00609.hp1 HG01175.hp1 others(18): Show |
a0001a0002a0013 | a0001c0001a0001c0013a0001c0021others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0126a0001c0001t0001g0242a0001c0001t0001g0245others(18): Show | 21 | 268 | 0.0784 | 14 | c.442 others(33): 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(7): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0251 | 1 | 268 | 0.0037 | 14 | c.443 others(33): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33411011 | G | GTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 268 | 0.0037 | 14 | c.211 others(35): 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(7): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 | 1 | 268 | 0.0037 | 14 | c.252 others(35): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33590453 | T | TTTTTTGT others(7): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00609.hp2 others(10): Show |
a0001a0002a0004 | a0001c0001a0001c0025a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0089a0001c0001t0001g0099a0001c0001t0001g0200others(10): Show | 13 | 268 | 0.0485 | 14 | c.252 others(35): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107580618 | C | CTCATTTT others(7): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03041.hp2 NA18522.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0048a0001c0001t0006g0046a0001c0001t0006g0049others(1): Show | 4 | 222 | 0.0180 | 14 | c.-84 others(33): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107778994 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01256.hp2 HG01346.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0003g0084a0001c0001t0003g0127a0001c0001t0004g0017others(7): Show | 10 | 222 | 0.0451 | 14 | c.220 others(31): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BBX_chr3_107517962_107816339 | 107797337 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 222 | 0.0045 | 14 | c.235 others(33): 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(7): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0203 | 1 | 222 | 0.0045 | 14 | c.235 others(33): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 15/17 | chr3 | TogoVar | ||||||
BCAN_chr1_156637117_156664528 | 156643631 | C | CAGAGAGA others(7): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0155 | 1 | 420 | 0.0024 | 14 | c.-9+ others(29): 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(7): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00738.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0002a0001c0007t0001a0002c0002t0001others(2): Show | a0001c0001t0002g0127a0001c0001t0002g0131a0001c0001t0002g0251others(6): Show | 9 | 420 | 0.0214 | 14 | c.-9+ others(29): 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(7): Show |
intron_variant | MODIFIER | HG02258.hp2 NA19068.hp2 NA19070.hp1 |
a0001a0003 | a0001c0001a0003c0016 | a0001c0001t0002a0003c0016t0001 | a0001c0001t0002g0071a0001c0001t0002g0072a0003c0016t0001g0070 | 3 | 420 | 0.0071 | 14 | c.-9+ others(29): Show |
BCAN | ENSG00000132692.19 | transcript | ENST00000329117.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BCAN_chr1_156637117_156664528 | 156646650 | A | ACCCTGGC others(7): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0117 | 1 | 420 | 0.0024 | 14 | c.92- others(27): Show |
BCAN | ENSG00000132692.19 | transcript | ENST00000329117.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
BCAP29_chr7_107575246_107625478 | 107599052 | A | AATATATT others(7): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03098.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0347a0001c0001t0002g0348a0001c0001t0002g0349 | 3 | 398 | 0.0075 | 14 | c.481 others(31): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BCAP29_chr7_107575246_107625478 | 107612391 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0284 | 1 | 398 | 0.0025 | 14 | c.590 others(29): 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(7): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0210 | 1 | 398 | 0.0025 | 14 | c.590 others(29): 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(7): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02132.hp1 HG03139.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046a0001c0001t0001g0178a0001c0001t0001g0181others(3): Show | 6 | 398 | 0.0151 | 14 | c.590 others(29): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BCAR1_chr16_75223181_75256624 | 75223691 | C | CGTTTGGC others(7): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG00621.hp2 HG00673.hp1 others(77): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0018others(15): Show | a0001c0001t0008a0001c0003t0003a0001c0018t0001others(19): Show | a0001c0001t0008g0135a0001c0001t0008g0151a0001c0001t0008g0170others(64): Show | 80 | 392 | 0.2041 | 14 | c.*58 others(25): Show |
BCAR1 | ENSG00000050820.17 | transcript | ENST00000162330.10 | protein_coding | 4489 | chr16 | TogoVar | ||||||
BCAR1_chr16_75223181_75256624 | 75245964 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0092 | 1 | 392 | 0.0026 | 14 | c.13- others(29): Show |
BCAR1 | ENSG00000050820.17 | transcript | ENST00000162330.10 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
BCAR3_chr1_93556741_93686837 | 93675925 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02886.hp1 HG03540.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0002a0004c0005t0002 | a0001c0001t0002g0195a0001c0001t0002g0196a0001c0001t0002g0197others(1): Show | 4 | 202 | 0.0198 | 14 | c.-11 others(29): Show |
BCAR3 | ENSG00000137936.18 | transcript | ENST00000260502.11 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 53941409 | T | TGTTTGTG others(7): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG02683.hp1 HG04184.hp1 others(4): Show |
a0006a0015a0029 | a0006c0006a0015c0015a0029c0041 | a0006c0006t0018a0006c0006t0025a0006c0006t0026others(3): Show | a0006c0006t0018g0302a0006c0006t0025g0173a0006c0006t0026g0064others(4): Show | 7 | 364 | 0.0192 | 14 | c.*35 others(25): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 2131 | chr20 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 53941411 | T | TGTGTGCG others(7): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 NA18968.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0064a0003c0003t0005 | a0002c0002t0064g0139a0003c0003t0005g0044 | 2 | 364 | 0.0055 | 14 | c.*35 others(25): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 2129 | chr20 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 53941411 | T | TTTGTGTG others(7): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00741.hp1 others(83): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0007a0002c0002others(21): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(41): Show | a0001c0001t0001g0224a0001c0001t0001g0225a0001c0001t0003g0165others(83): Show | 86 | 364 | 0.2363 | 14 | c.*35 others(25): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 2129 | chr20 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 53941419 | C | CGCGCGCG others(7): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(89): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0007a0002c0002others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(32): Show | a0001c0001t0001g0245a0001c0001t0004g0346a0001c0001t0005g0019others(86): Show | 92 | 364 | 0.2528 | 14 | c.*35 others(25): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 2121 | chr20 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 53954294 | G | GGAGAGAG others(7): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00673.hp2 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0015a0002c0002t0003a0002c0002t0006others(5): Show | a0001c0001t0015g0345a0002c0002t0003g0290a0002c0002t0006g0094others(7): Show | 10 | 364 | 0.0275 | 14 | c.155 others(31): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 11/12 | chr20 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 53994888 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00673.hp2 HG01934.hp2 others(9): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0017a0002c0002others(4): Show | a0001c0001t0015a0001c0017t0012a0002c0002t0001others(6): Show | a0001c0001t0015g0343a0001c0017t0012g0207a0002c0002t0001g0101others(9): Show | 12 | 364 | 0.0330 | 14 | c.927 others(29): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 6/12 | chr20 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 54005178 | A | ACATTGTC others(7): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG01069.hp1 others(64): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0007a0001c0034others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(25): Show | a0001c0001t0001g0224a0001c0001t0001g0225a0001c0001t0001g0256others(62): Show | 67 | 364 | 0.1841 | 14 | c.724 others(31): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 4/12 | chr20 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 54041908 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02809.hp2 NA19082.hp2 |
a0001a0010 | a0001c0001a0010c0011 | a0001c0001t0007a0010c0011t0002 | a0001c0001t0007g0030a0010c0011t0002g0209 | 2 | 364 | 0.0055 | 14 | c.143 others(33): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 3/12 | chr20 | TogoVar | ||||||
BCAS2_chr1_114562557_114586615 | 114583493 | A | AACACACA others(7): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 HG02723.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0024a0001c0001t0003g0100a0001c0001t0003g0101 | 4 | 414 | 0.0097 | 14 | c.-19 others(25): Show |
BCAS2 | ENSG00000116752.6 | transcript | ENST00000369541.4 | protein_coding | 1879 | chr1 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60701817 | A | AAAAAGAA others(7): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01952.hp2 HG02486.hp2 others(6): Show |
a0001a0004 | a0001c0002a0001c0004a0004c0009 | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(2): Show | a0001c0002t0001g0042a0001c0002t0001g0056a0001c0002t0002g0053others(6): Show | 9 | 74 | 0.1216 | 14 | c.215 others(31): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60786547 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02809.hp1 HG03579.hp1 others(1): Show |
a0001a0003 | a0001c0002a0001c0004a0003c0001 | a0001c0002t0001a0001c0004t0001a0003c0001t0001others(1): Show | a0001c0002t0001g0042a0001c0004t0001g0043a0003c0001t0001g0028others(1): Show | 4 | 74 | 0.0541 | 14 | c.404 others(33): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60799520 | G | GTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0068 | 1 | 74 | 0.0135 | 14 | c.404 others(31): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60814302 | T | TGCGCGCG others(7): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0028 | 1 | 74 | 0.0135 | 14 | c.476 others(31): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60814306 | T | TGTGTGCG others(7): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02922.hp1 |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0002c0005t0001 | a0001c0002t0001g0056a0002c0005t0001g0073 | 2 | 74 | 0.0270 | 14 | c.476 others(31): 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(7): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02818.hp2 others(6): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0002a0002c0003t0001 | a0001c0002t0001g0059a0001c0002t0001g0061a0001c0002t0001g0063others(6): Show | 9 | 74 | 0.1216 | 14 | c.122 others(33): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 60992189 | T | TCCACACA others(7): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0004 | 1 | 74 | 0.0135 | 14 | c.148 others(33): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 15/23 | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61045823 | T | TTCTCTCT others(7): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03098.hp2 HG03195.hp2 others(2): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0003others(1): Show | a0001c0002t0001a0001c0004t0002a0002c0003t0001others(1): Show | a0001c0002t0001g0060a0001c0004t0002g0072a0002c0003t0001g0016others(2): Show | 5 | 74 | 0.0676 | 14 | c.202 others(33): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61059063 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0026 | 1 | 74 | 0.0135 | 14 | c.203 others(35): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |