| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BCL2L13_chr22_17633757_17735855 | 17680518 | AAAAAAAA others(17): Show |
A | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0023 | 1 | 306 | 0.0033 | -24 | c.122 others(41): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| BCL2L13_chr22_17633757_17735855 | 17715122 | TTATATAT others(17): Show |
T | intron_variant | MODIFIER | HG02258.hp1 NA19240.hp2 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0035a0001c0007t0044 | a0001c0002t0035g0301a0001c0007t0044g0052 | 2 | 306 | 0.0065 | -24 | c.601 others(43): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| BCL2L13_chr22_17633757_17735855 | 17715148 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG01981.hp1 HG02572.hp2 NA18906.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0030a0001c0001t0003g0031a0001c0001t0003g0045others(1): Show | 4 | 306 | 0.0131 | -24 | c.601 others(43): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| BCL2L13_chr22_17633757_17735855 | 17715150 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG01496.hp2 others(17): Show |
a0001a0003a0008 | a0001c0001a0003c0004a0008c0011 | a0001c0001t0003a0001c0001t0007a0001c0001t0009others(4): Show | a0001c0001t0003g0029a0001c0001t0003g0034a0001c0001t0003g0037others(17): Show | 20 | 306 | 0.0654 | -24 | c.601 others(43): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| BCL2L13_chr22_17633757_17735855 | 17715152 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG04199.hp1 NA18967.hp2 NA18986.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022a0001c0001t0003g0046a0001c0001t0003g0104 | 3 | 306 | 0.0098 | -24 | c.601 others(43): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| BCL2L13_chr22_17633757_17735855 | 17715154 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0006 | 1 | 306 | 0.0033 | -24 | c.601 others(43): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| BCL2_chr18_63118346_63324769 | 63281666 | CAGAAAGA others(17): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG01070.hp2 HG01192.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0102a0001c0001t0001g0118a0001c0001t0001g0164others(12): Show | 15 | 264 | 0.0568 | -24 | c.585 others(43): Show |
BCL2 | ENSG00000171791.14 | transcript | ENST00000333681.5 | protein_coding | 2/2 | chr18 | TogoVar | ||||||
| BCL6_chr3_187716381_187750468 | 187737347 | CAGAGAGA others(17): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02559.hp1 HG02559.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0236a0001c0002t0001g0238a0001c0002t0001g0239others(3): Show | 6 | 404 | 0.0149 | -24 | c.-49 others(41): Show |
BCL6 | ENSG00000113916.18 | transcript | ENST00000406870.7 | protein_coding | 1/9 | chr3 | TogoVar | ||||||
| BCL7A_chr12_122016884_122067044 | 122034190 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0004 | a0001c0004t0033 | a0001c0004t0033g0333 | 1 | 362 | 0.0028 | -24 | c.175 others(41): Show |
BCL7A | ENSG00000110987.9 | transcript | ENST00000261822.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BCLAF3_chrX_19907860_19996061 | 19990922 | CCCGCCGC others(17): Show |
C | 5_prime_UTR_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0198 | 1 | 207 | 0.0048 | -24 | c.-73 others(31): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 1/12 | 20659 | chrX | TogoVar | |||||
| BCLAF3_chrX_19907860_19996061 | 19995592 | TGAAAGAA others(17): Show |
T | upstream_gene_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 207 | 0.0048 | -24 | c.-47 others(35): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 4532 | chrX | TogoVar | ||||||
| BCLAF3_chrX_19907860_19996061 | 19995656 | AGAAAGAA others(17): Show |
A | upstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0002 | 1 | 207 | 0.0048 | -24 | c.-48 others(35): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 4596 | chrX | TogoVar | ||||||
| BCO1_chr16_81233689_81296142 | 81235177 | TATATATA others(17): Show |
T | upstream_gene_variant | MODIFIER | HG02630.hp2 HG03017.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260a0001c0001t0001g0273 | 2 | 402 | 0.0050 | -24 | c.-37 others(35): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 3511 | chr16 | TogoVar | ||||||
| BCORL1_chrX_129977635_130063071 | 130043766 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0081 | 2 | 203 | 0.0099 | -24 | c.484 others(43): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| BCOR_chrX_40046251_40102958 | 40080965 | ACGCACAC others(17): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02818.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0128others(1): Show | 4 | 257 | 0.0156 | -24 | c.-40 others(41): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 1/14 | chrX | TogoVar | ||||||
| BCR_chr22_23175509_23323037 | 23236847 | AAGCGTGA others(17): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01261.hp2 HG01516.hp1 others(19): Show |
a0001a0002a0008 | a0001c0001a0001c0004a0002c0007others(3): Show | a0001c0001t0124a0001c0004t0015a0001c0004t0035others(16): Show | a0001c0001t0124g0099a0001c0004t0015g0074a0001c0004t0015g0075others(18): Show | 22 | 296 | 0.0743 | -24 | c.128 others(45): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| BDKRB2_chr14_96199839_96249164 | 96248021 | GATGAGGT others(17): Show |
G | downstream_gene_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0236 | 1 | 436 | 0.0023 | -24 | c.*65 others(35): Show |
BDKRB2 | ENSG00000168398.7 | transcript | ENST00000554311.2 | protein_coding | 3858 | chr14 | TogoVar | ||||||
| BDP1_chr5_71450651_71572820 | 71451104 | TACACACA others(17): Show |
T | upstream_gene_variant | MODIFIER | HG04204.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0271 | 1 | 325 | 0.0031 | -24 | c.-47 others(35): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 4546 | chr5 | TogoVar | ||||||
| BECN2_chr1_241952767_241964062 | 241957039 | CTGTGTGT others(17): Show |
C | upstream_gene_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0002 | a0002c0002t0000 | a0002c0002t0000g0000 | 1 | 444 | 0.0023 | -24 | c.-72 others(33): Show |
BECN2 | ENSG00000196289.7 | transcript | ENST00000419583.2 | protein_coding | 727 | chr1 | TogoVar | ||||||
| BEGAIN_chr14_100532147_100592417 | 100585415 | CCCATCCA others(17): Show |
C | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0005 | a0001c0005t0010 | a0001c0005t0010g0289 | 1 | 326 | 0.0031 | -24 | c.42+ others(39): Show |
BEGAIN | ENSG00000183092.18 | transcript | ENST00000554140.3 | protein_coding | 1/6 | chr14 | TogoVar | ||||||
| BEND2_chrX_18157931_18225886 | 18224006 | CATATATA others(17): Show |
C | upstream_gene_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0158 | 1 | 295 | 0.0034 | -24 | c.-32 others(35): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 3121 | chrX | TogoVar | ||||||
| BEND3_chr6_107060182_107120515 | 107073197 | GTATGTAT others(17): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG01891.hp2 others(5): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0015others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0022others(4): Show | a0001c0001t0003g0101a0001c0001t0004g0211a0001c0001t0022g0163others(5): Show | 8 | 368 | 0.0217 | -24 | c.241 others(41): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
| BEND3_chr6_107060182_107120515 | 107073241 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0010 | a0001c0001t0008g0095a0001c0001t0010g0216 | 2 | 368 | 0.0054 | -24 | c.241 others(41): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
| BEST1_chr11_61945351_61969461 | 61958883 | CACACACA others(17): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0125 | 1 | 410 | 0.0024 | -24 | c.868 others(39): Show |
BEST1 | ENSG00000167995.17 | transcript | ENST00000378043.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| BEST3_chr12_69648609_69704303 | 69700940 | CTTCCTTC others(17): Show |
C | upstream_gene_variant | MODIFIER | HG02809.hp1 HG02965.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0005a0001c0001t0001g0101a0001c0001t0007g0236 | 3 | 366 | 0.0082 | -24 | c.-17 others(35): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 1638 | chr12 | TogoVar | ||||||
| BEST4_chr1_44778585_44793170 | 44792971 | CTAAACAA others(17): Show |
C | upstream_gene_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 390 | 0.0026 | -24 | c.-52 others(35): Show |
BEST4 | ENSG00000142959.5 | transcript | ENST00000372207.4 | protein_coding | 4802 | chr1 | TogoVar | ||||||
| BEX5_chrX_102148712_102160977 | 102153606 | CATATATA others(17): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 324 | 0.0031 | -24 | c.*30 others(33): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 105 | chrX | TogoVar | ||||||
| BEX5_chrX_102148712_102160977 | 102158132 | CTTCTTCT others(17): Show |
C | upstream_gene_variant | MODIFIER | NA18968.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0003 | 2 | 324 | 0.0062 | -24 | c.-24 others(35): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2156 | chrX | TogoVar | ||||||
| BEX5_chrX_102148712_102160977 | 102158135 | CTTCTTCT others(17): Show |
C | upstream_gene_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 324 | 0.0031 | -24 | c.-24 others(35): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2159 | chrX | TogoVar | ||||||
| BEX5_chrX_102148712_102160977 | 102158138 | CTTCTTCT others(17): Show |
C | upstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 324 | 0.0062 | -24 | c.-24 others(35): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2162 | chrX | TogoVar | ||||||
| BEX5_chrX_102148712_102160977 | 102158141 | CTTCTTCT others(17): Show |
C | upstream_gene_variant | MODIFIER | HG02109.hp1 HG03139.hp1 HG03195.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003 | 6 | 324 | 0.0185 | -24 | c.-24 others(35): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2165 | chrX | TogoVar | ||||||
| BEX5_chrX_102148712_102160977 | 102158144 | CTTCTTCT others(17): Show |
C | upstream_gene_variant | MODIFIER | HG02559.hp1 HG02886.hp1 NA18522.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0002g0008 | 5 | 324 | 0.0154 | -24 | c.-24 others(35): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2168 | chrX | TogoVar | ||||||
| BEX5_chrX_102148712_102160977 | 102158150 | CTTCTTAT others(17): Show |
C | upstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 324 | 0.0031 | -24 | c.-24 others(35): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2174 | chrX | TogoVar | ||||||
| BEX5_chrX_102148712_102160977 | 102158153 | CTTATTAT others(17): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01257.hp2 HG01261.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0012 | 4 | 324 | 0.0124 | -24 | c.-24 others(35): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2177 | chrX | TogoVar | ||||||
| BFSP2_chr3_133395056_133480208 | 133414863 | ACCTGCCC others(17): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02717.hp2 HG02818.hp1 others(9): Show |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0001a0006c0009t0001 | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(9): Show | 12 | 276 | 0.0435 | -24 | c.489 others(43): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| BFSP2_chr3_133395056_133480208 | 133414958 | CCCTCTAC others(17): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG03471.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140a0001c0001t0001g0141a0001c0001t0001g0142 | 3 | 276 | 0.0109 | -24 | c.489 others(43): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| BFSP2_chr3_133395056_133480208 | 133415549 | CCTCTACT others(17): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG00738.hp1 HG01167.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0055a0001c0001t0001g0069a0001c0001t0001g0083others(17): Show | 20 | 276 | 0.0725 | -24 | c.489 others(43): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| BFSP2_chr3_133395056_133480208 | 133416161 | CCTCTCCC others(17): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0019 | 2 | 276 | 0.0073 | -24 | c.489 others(43): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| BFSP2_chr3_133395056_133480208 | 133416249 | TCCCCTGT others(17): Show |
T | intron_variant | MODIFIER | HG02615.hp2 HG03225.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0026a0002c0003t0001g0145 | 2 | 276 | 0.0073 | -24 | c.489 others(43): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| BFSP2_chr3_133395056_133480208 | 133416580 | TCCATCTC others(17): Show |
T | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0121 | 1 | 276 | 0.0036 | -24 | c.489 others(43): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| BFSP2_chr3_133395056_133480208 | 133417206 | CGCCTCTC others(17): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02723.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0242a0001c0002t0001g0166 | 2 | 276 | 0.0073 | -24 | c.489 others(43): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | chr3 | TogoVar | ||||||
| BFSP2_chr3_133395056_133480208 | 133417279 | CCCTCTCC others(17): Show |
C | intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 276 | 0.0036 | -24 | c.489 others(43): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| BFSP2_chr3_133395056_133480208 | 133417843 | CGTCCTCT others(17): Show |
C | intron_variant | MODIFIER | HG00738.hp2 NA20905.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0150a0001c0002t0001g0151 | 2 | 276 | 0.0073 | -24 | c.489 others(43): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| BFSP2_chr3_133395056_133480208 | 133418022 | GTCCTCTC others(17): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG00738.hp1 HG01175.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0055a0001c0001t0001g0069a0001c0001t0001g0083others(17): Show | 20 | 276 | 0.0725 | -24 | c.489 others(43): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| BFSP2_chr3_133395056_133480208 | 133446570 | TTATATAT others(17): Show |
T | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 276 | 0.0036 | -24 | c.490 others(39): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| BICC1_chr10_58507872_58836435 | 58642666 | TTTATTAT others(17): Show |
T | intron_variant | MODIFIER | HG02922.hp2 HG06807.hp2 |
a0002 | a0002c0003 | a0002c0003t0016 | a0002c0003t0016g0061a0002c0003t0016g0062 | 2 | 132 | 0.0152 | -24 | c.237 others(43): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| BICC1_chr10_58507872_58836435 | 58732371 | GTGTGTAT others(17): Show |
G | intron_variant | MODIFIER | HG01515.hp1 HG02280.hp2 HG02683.hp1 others(2): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0011a0002c0002t0005a0002c0002t0018others(2): Show | a0001c0001t0011g0070a0002c0002t0005g0028a0002c0002t0018g0124others(2): Show | 5 | 132 | 0.0379 | -24 | c.307 others(43): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| BICD1_chr12_32101847_32388633 | 32116468 | CTCTCTCT others(17): Show |
C | intron_variant | MODIFIER | HG03130.hp1 HG03225.hp1 HG06807.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0017a0001c0001t0023a0001c0001t0035others(1): Show | a0001c0001t0017g0094a0001c0001t0023g0096a0001c0001t0035g0097others(1): Show | 4 | 290 | 0.0138 | -24 | c.213 others(41): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BICD1_chr12_32101847_32388633 | 32116488 | CTCTTTCT others(17): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02922.hp1 HG03516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0023a0001c0001t0038others(1): Show | a0001c0001t0022g0101a0001c0001t0023g0099a0001c0001t0038g0098others(1): Show | 4 | 290 | 0.0138 | -24 | c.213 others(41): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| BICD1_chr12_32101847_32388633 | 32116490 | CTTTCTCT others(17): Show |
C | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0102 | 1 | 290 | 0.0035 | -24 | c.213 others(41): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |