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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BATF3_chr1_212681417_212704840 | 212687992 | AAAGAAAG others(21): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG00738.hp2 HG00741.hp2 others(22): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0001 | a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0030 others(8): Show |
25 | 459 | 0.0545 | -28 | c.196 others(45): Show |
BATF3 | ENSG00000123685.9 | transcript | ENST00000243440.2 | protein_coding | 2/2 | chr1 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159324625 | TACACACA others(21): Show |
T | intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0098 | 1 | 79 | 0.0127 | -28 | c.635 others(45): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 36/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159590187 | CAAAAAAA others(21): Show |
C | intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0128 | 1 | 57 | 0.0175 | -28 | c.-46 others(47): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 1/36 | chr2 | TogoVar | |||||||
BBS4_chr15_72681207_72743473 | 72725812 | CCCCCATC others(21): Show |
C | intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 251 | 0.0040 | -28 | c.587 others(45): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33565781 | GTATATAT others(21): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG01884.hp2 HG02055.hp1 others(42): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0026a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0057 others(42): Show |
45 | 100 | 0.4500 | -28 | c.252 others(49): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BCAR1_chr16_75223181_75256624 | 75234073 | GCACACAC others(21): Show |
G | intron_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0166 | 1 | 390 | 0.0026 | -28 | c.201 others(45): Show |
BCAR1 | ENSG00000050820.17 | transcript | ENST00000162330.10 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 60754680 | TACACACA others(21): Show |
T | intron_variant | MODIFIER | HG02897.hp2 HG03098.hp1 HG03209.hp2 others(1): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0002a0002c0003t0002 | a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0002g0068 others(1): Show |
4 | 26 | 0.1538 | -28 | c.403 others(45): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60507355 | AAGGGAAG others(21): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG03540.hp1 NA20905.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(1): Show | a0001c0001t0001g0030 a0001c0001t0003g0191 a0001c0001t0014g0007 others(1): Show |
4 | 211 | 0.0190 | -28 | c.386 others(47): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
BCL11B_chr14_99164287_99277197 | 99199677 | TGTGTGTG others(21): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0184 a0001c0001t0001g0221 a0001c0001t0001g0279 others(26): Show |
30 | 329 | 0.0912 | -28 | c.641 others(47): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3/3 | chr14 | TogoVar | |||||||
BCL2L13_chr22_17633757_17735855 | 17715122 | TTATATAT others(21): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01255.hp2 HG01361.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(7): Show | a0001c0001t0004g0118 a0001c0001t0004g0119 a0001c0001t0004g0191 others(12): Show |
15 | 279 | 0.0538 | -28 | c.601 others(47): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17715144 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG01516.hp1 HG02071.hp2 HG02559.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0004g0124 a0001c0001t0004g0177 a0001c0001t0005g0169 others(5): Show |
8 | 290 | 0.0276 | -28 | c.601 others(47): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17715146 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG02622.hp2 HG02895.hp1 others(5): Show |
a0001a0005 | a0001c0001a0001c0012a0005c0008 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(4): Show | a0001c0001t0002g0123 a0001c0001t0005g0012 a0001c0001t0007g0112 others(5): Show |
8 | 266 | 0.0301 | -28 | c.601 others(47): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17715148 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG03017.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0170 a0001c0001t0007g0121 |
2 | 277 | 0.0072 | -28 | c.601 others(47): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17715150 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG01175.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0038 | a0001c0001t0002g0209 a0001c0001t0038g0229 |
2 | 256 | 0.0078 | -28 | c.601 others(47): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2_chr18_63118346_63324769 | 63281666 | CAGAAAGA others(21): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01515.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0051a0001c0002t0009others(1): Show | a0001c0001t0001g0177 a0001c0001t0051g0172 a0001c0002t0009g0087 others(1): Show |
4 | 35 | 0.1143 | -28 | c.585 others(47): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | |||||||
BCL7A_chr12_122016884_122067044 | 122034190 | CATATATA others(21): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01106.hp2 HG01515.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0115 a0001c0001t0002g0057 a0001c0001t0002g0060 others(6): Show |
9 | 18 | 0.5000 | -28 | c.175 others(45): Show |
BCL7A | ENSG00000110987.9 | transcript | ENST00000261822.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BCO1_chr16_81233689_81296142 | 81235173 | TATATATA others(21): Show |
T | upstream_gene_variant | MODIFIER | HG02451.hp1 HG04115.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0256 a0001c0005t0001g0032 |
2 | 396 | 0.0051 | -28 | c.-37 others(39): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 3515 | chr16 | TogoVar | |||||||
BCORL1_chrX_129977635_130063071 | 130043758 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01358.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0045 a0002c0004t0001g0152 a0002c0004t0001g0186 |
3 | 199 | 0.0151 | -28 | c.484 others(47): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40046522 | TTATATAT others(21): Show |
T | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02109.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0123 a0001c0001t0002g0046 |
2 | 182 | 0.0110 | -28 | c.*55 others(39): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4728 | chrX | TogoVar | |||||||
BEAN1_chr16_66422295_66487833 | 66474577 | GGAGAGAG others(21): Show |
G | intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 287 | 0.0035 | -28 | c.290 others(45): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BECN2_chr1_241952767_241964062 | 241957039 | CTGTGTGT others(21): Show |
C | upstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 228 | 0.0044 | -28 | c.-72 others(37): Show |
BECN2 | ENSG00000196289.7 | transcript | ENST00000419583.2 | protein_coding | 727 | chr1 | TogoVar | |||||||
BEND2_chrX_18157931_18225886 | 18224006 | CATATATA others(21): Show |
C | upstream_gene_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 27 | 0.0370 | -28 | c.-32 others(39): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 3121 | chrX | TogoVar | |||||||
BEND3_chr6_107060182_107120515 | 107073197 | GTATGTAT others(21): Show |
G | intron_variant | MODIFIER | HG02572.hp1 HG02622.hp2 HG02976.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0001t0004a0001c0001t0030others(1): Show | a0001c0001t0003g0095 a0001c0001t0004g0047 a0001c0001t0030g0212 others(1): Show |
4 | 172 | 0.0233 | -28 | c.241 others(45): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
BEND3_chr6_107060182_107120515 | 107073201 | GTATATAT others(21): Show |
G | intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0239 | 1 | 223 | 0.0045 | -28 | c.241 others(45): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
BEST3_chr12_69648609_69704303 | 69700936 | CTTCCTTC others(21): Show |
C | upstream_gene_variant | MODIFIER | HG02559.hp1 HG02647.hp1 HG03041.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 others(1): Show |
4 | 258 | 0.0155 | -28 | c.-17 others(39): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 1634 | chr12 | TogoVar | |||||||
BEST4_chr1_44778585_44793170 | 44792948 | TGGGTGAC others(21): Show |
T | upstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 388 | 0.0026 | -28 | c.-52 others(39): Show |
BEST4 | ENSG00000142959.5 | transcript | ENST00000372207.4 | protein_coding | 4779 | chr1 | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103060000 | CTCTCTCT others(21): Show |
C | downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 335 | 0.0030 | -28 | c.*28 others(39): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2650 | chrX | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103060006 | CTCTCTCT others(21): Show |
C | downstream_gene_variant | MODIFIER | HG01257.hp1 HG01884.hp1 HG02132.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0003 others(1): Show |
5 | 310 | 0.0161 | -28 | c.*28 others(39): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2644 | chrX | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103060008 | CTCTCTCT others(21): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG01069.hp1 HG01071.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0002g0003 |
4 | 290 | 0.0138 | -28 | c.*28 others(39): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2642 | chrX | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103060010 | CTCTCTCT others(21): Show |
C | downstream_gene_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 277 | 0.0036 | -28 | c.*28 others(39): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2640 | chrX | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103060012 | CTCTCTAT others(21): Show |
C | downstream_gene_variant | MODIFIER | NA18954.hp1 NA18963.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 285 | 0.0070 | -28 | c.*28 others(39): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2638 | chrX | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103060016 | CTATATAT others(21): Show |
C | downstream_gene_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 240 | 0.0042 | -28 | c.*28 others(39): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2634 | chrX | TogoVar | |||||||
BEX2_chrX_103304346_103315990 | 103309250 | GTGTATAT others(21): Show |
G | downstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 206 | 0.0049 | -28 | c.*31 others(37): Show |
BEX2 | ENSG00000133134.12 | transcript | ENST00000372677.8 | protein_coding | 95 | chrX | TogoVar | |||||||
BFSP2_chr3_133395056_133480208 | 133425800 | GAAGAAGG others(21): Show |
G | intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 274 | 0.0036 | -28 | c.490 others(47): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
BFSP2_chr3_133395056_133480208 | 133446570 | TTATATAT others(21): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG03017.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0107 a0001c0001t0001g0147 a0001c0001t0001g0173 others(1): Show |
4 | 33 | 0.1212 | -28 | c.490 others(43): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58732371 | GTGTGTAT others(21): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG01167.hp1 HG01515.hp2 others(11): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0010 | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(10): Show | a0001c0001t0002g0024 a0001c0001t0003g0006 a0001c0001t0003g0007 others(11): Show |
14 | 32 | 0.4375 | -28 | c.307 others(47): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32116464 | CTCTCTCT others(21): Show |
C | intron_variant | MODIFIER | HG03688.hp2 HG03710.hp2 NA18944.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0011a0001c0002t0002others(1): Show | a0001c0001t0003g0177 a0001c0001t0003g0226 a0001c0001t0011g0269 others(2): Show |
5 | 277 | 0.0181 | -28 | c.213 others(45): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32116484 | CTCTCTCT others(21): Show |
C | intron_variant | MODIFIER | HG02132.hp1 HG02735.hp1 NA18975.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0020a0001c0001t0048 | a0001c0001t0003g0225 a0001c0001t0020g0230 a0001c0001t0048g0232 |
3 | 276 | 0.0109 | -28 | c.213 others(45): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32116486 | CTCTCTTT others(21): Show |
C | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0161 | 1 | 287 | 0.0035 | -28 | c.213 others(45): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32230419 | TAAATAAA others(21): Show |
T | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0158 | 1 | 288 | 0.0035 | -28 | c.426 others(47): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32346588 | ATATATAT others(21): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0060 | a0001c0001t0009g0288 a0001c0001t0060g0244 |
2 | 282 | 0.0071 | -28 | c.276 others(47): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32346610 | ATACGTGT others(21): Show |
A | intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0145 | 1 | 280 | 0.0036 | -28 | c.276 others(47): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32348723 | AATATATA others(21): Show |
A | intron_variant | MODIFIER | HG03516.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0038a0001c0001t0049 | a0001c0001t0038g0096 a0001c0001t0049g0242 |
2 | 7 | 0.2857 | -28 | c.276 others(47): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42845195 | GTTTTTTT others(21): Show |
G | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 7 | 0.1429 | -28 | c.184 others(47): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BIN2_chr12_51276038_51329174 | 51295577 | AATATATA others(21): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG01243.hp2 HG01261.hp2 others(1): Show |
a0001a0006 | a0001c0004a0006c0013 | a0001c0004t0001a0006c0013t0001 | a0001c0004t0001g0276 a0001c0004t0001g0295 a0001c0004t0001g0303 others(1): Show |
4 | 211 | 0.0190 | -28 | c.761 others(43): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 9/12 | chr12 | TogoVar | |||||||
BIRC2_chr11_102342214_102383670 | 102342344 | GTATATAT others(21): Show |
G | upstream_gene_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 62 | 0.0161 | -28 | c.-62 others(39): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 4869 | chr11 | TogoVar | |||||||
BIRC3_chr11_102312484_102344403 | 102342344 | GTATATAT others(21): Show |
G | downstream_gene_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 68 | 0.0147 | -28 | c.*52 others(39): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2942 | chr11 | TogoVar | |||||||
BIRC6_chr2_32352023_32623878 | 32473723 | GTGTGTGT others(21): Show |
G | intron_variant | MODIFIER | HG02559.hp2 NA18522.hp2 |
a0001 | a0001c0007a0001c0030 | a0001c0007t0002a0001c0030t0002 | a0001c0007t0002g0017 a0001c0030t0002g0018 |
2 | 272 | 0.0074 | -28 | c.672 others(45): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 33/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BLK_chr8_11489387_11569599 | 11560167 | GTGGATGG others(21): Show |
G | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0012 | a0001c0012t0017 | a0001c0012t0017g0295 | 1 | 164 | 0.0061 | -28 | c.103 others(47): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BLOC1S1_chr12_55711046_55724703 | 55714720 | ATATACAT others(21): Show |
A | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00609.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 9 | 374 | 0.0241 | -28 | c.-13 others(39): Show |
BLOC1S1 | ENSG00000135441.8 | transcript | ENST00000548925.6 | protein_coding | 1325 | chr12 | TogoVar |