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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCAS3_chr17_60672851_61397831 | 60676637 | TTATGTAT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG02897.hp1 HG02970.hp2 NA19240.hp2 others(1): Show |
a0001a0002 | a0001c0002a0001c0008a0002c0006 | a0001c0002t0001a0001c0008t0002a0002c0006t0002 | a0001c0002t0001g0060 a0001c0002t0001g0067 a0001c0008t0002g0062 others(1): Show |
4 | 45 | 0.0889 | -12 | c.-12 others(23): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 1213 | chr17 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 60676673 | GTATGTAT others(5): Show |
G | upstream_gene_variant | MODIFIER | HG01952.hp2 HG02145.hp2 HG02809.hp2 others(2): Show |
a0001a0003 | a0001c0002a0003c0001 | a0001c0002t0001a0001c0002t0002a0003c0001t0001 | a0001c0002t0001g0059 a0001c0002t0002g0057 a0001c0002t0002g0069 others(2): Show |
5 | 74 | 0.0676 | -12 | c.-12 others(23): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 1177 | chr17 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 60676677 | GTATGTAT others(5): Show |
G | upstream_gene_variant | MODIFIER | HG02809.hp1 HG02886.hp2 |
a0001a0003 | a0001c0002a0003c0001 | a0001c0002t0002a0003c0001t0002 | a0001c0002t0002g0053 a0003c0001t0002g0022 |
2 | 64 | 0.0313 | -12 | c.-12 others(23): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 1173 | chr17 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 60676681 | GTATCTAT others(5): Show |
G | upstream_gene_variant | MODIFIER | HG02083.hp2 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0011 | 1 | 56 | 0.0179 | -12 | c.-12 others(23): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 1169 | chr17 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 60683505 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG03041.hp2 NA19240.hp1 |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0018 a0002c0005t0001g0019 |
2 | 11 | 0.1818 | -12 | c.84- others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60736912 | CCCTTCCT others(5): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01891.hp1 HG01952.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0002c0003others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(6): Show | a0001c0002t0001g0056 a0001c0002t0002g0053 a0001c0002t0002g0054 others(13): Show |
16 | 74 | 0.2162 | -12 | c.322 others(31): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60754680 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02970.hp1 NA19030.hp2 others(1): Show |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0001a0002c0003t0001 | a0001c0004t0001g0043 a0001c0004t0001g0047 a0001c0004t0001g0049 others(1): Show |
4 | 26 | 0.1538 | -12 | 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 | 60757394 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0061 | 1 | 24 | 0.0417 | -12 | c.403 others(31): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60770400 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02897.hp1 HG03130.hp2 others(1): Show |
a0001a0002 | a0001c0008a0002c0003a0002c0005 | a0001c0008t0002a0002c0003t0001a0002c0005t0001 | a0001c0008t0002g0062 a0002c0003t0001g0038 a0002c0005t0001g0019 others(1): Show |
4 | 8 | 0.5000 | -12 | c.403 others(31): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60770834 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG01099.hp1 HG01891.hp1 HG01891.hp2 others(1): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0007others(1): Show | a0001c0002t0002a0001c0004t0001a0002c0007t0001others(1): Show | a0001c0002t0002g0054 a0001c0004t0001g0047 a0002c0007t0001g0004 others(1): Show |
4 | 11 | 0.3636 | -12 | c.403 others(31): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60847189 | TATTTTGT others(5): Show |
T | intron_variant | MODIFIER | HG01256.hp2 HG01891.hp1 HG01952.hp1 others(27): Show |
a0001a0002a0003 | a0001c0004a0002c0003a0003c0001 | a0001c0004t0001a0001c0004t0002a0002c0003t0001others(4): Show | a0001c0004t0001g0034 a0001c0004t0001g0043 a0001c0004t0001g0045 others(27): Show |
30 | 74 | 0.4054 | -12 | c.477 others(31): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 7/23 | chr17 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 60920870 | AAACAACA others(5): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02897.hp1 others(4): Show |
a0001a0002 | a0001c0002a0001c0008a0002c0003 | a0001c0002t0001a0001c0008t0002a0002c0003t0002 | a0001c0002t0001g0059 a0001c0002t0001g0063 a0001c0002t0001g0065 others(4): Show |
7 | 10 | 0.7000 | -12 | c.994 others(29): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60921612 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02970.hp1 HG03041.hp1 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002 | a0001c0004t0001g0043 a0001c0004t0001g0045 a0001c0004t0001g0047 others(2): Show |
5 | 60 | 0.0833 | -12 | c.994 others(29): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61059063 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0059 | 1 | 6 | 0.1667 | -12 | c.203 others(33): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61089509 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01256.hp2 HG01952.hp1 HG02486.hp1 others(7): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0003others(1): Show | a0001c0002t0001a0001c0004t0002a0002c0003t0001others(4): Show | a0001c0002t0001g0060 a0001c0004t0002g0035 a0001c0004t0002g0050 others(7): Show |
10 | 15 | 0.6667 | -12 | c.242 others(31): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61166387 | CTCTCTTT others(5): Show |
C | intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0074 | 1 | 37 | 0.0270 | -12 | c.242 others(33): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61271589 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02615.hp1 HG02818.hp2 others(5): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0003others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(3): Show | a0001c0002t0001g0056 a0001c0002t0001g0066 a0001c0002t0002g0070 others(5): Show |
8 | 18 | 0.4444 | -12 | c.242 others(33): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61287727 | AAAAACAA others(5): Show |
A | intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0017 | 1 | 74 | 0.0135 | -12 | c.242 others(33): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61367798 | AATTTATT others(5): Show |
A | intron_variant | MODIFIER | HG02615.hp2 NA18906.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0071 a0001c0004t0001g0046 |
2 | 73 | 0.0274 | -12 | c.242 others(29): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61388959 | ATCATTCA others(5): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02922.hp1 HG03225.hp1 others(4): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0003others(2): Show | a0001c0002t0001a0001c0004t0001a0002c0003t0001others(2): Show | a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0004t0001g0046 others(4): Show |
7 | 14 | 0.5000 | -12 | c.259 others(31): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS4_chr20_50790061_50882177 | 50796485 | ATATTTTT others(5): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0015 | 1 | 159 | 0.0063 | -12 | c.90+ others(27): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BCAS4_chr20_50790061_50882177 | 50872232 | CCAGCCTG others(5): Show |
C | intron_variant | MODIFIER | NA18963.hp1 NA18965.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0027 a0002c0002t0001g0034 |
2 | 268 | 0.0075 | -12 | c.400 others(29): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24823218 | ATTTGTTT others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(167): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(59): Show | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 others(167): Show |
170 | 272 | 0.6250 | -12 | c.112 others(31): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 10/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24829019 | GTAAATAA others(5): Show |
G | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01099.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0039a0001c0001t0096 | a0001c0001t0017g0026 a0001c0001t0017g0027 a0001c0001t0017g0028 others(3): Show |
6 | 84 | 0.0714 | -12 | c.111 others(29): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 10/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24835551 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG01993.hp1 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0053a0001c0001t0109 | a0001c0001t0053g0174 a0001c0001t0109g0114 |
2 | 193 | 0.0104 | -12 | c.903 others(27): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 8/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24836896 | AGAAAAGA others(5): Show |
A | intron_variant | MODIFIER | HG02602.hp2 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0093a0001c0001t0112 | a0001c0001t0093g0073 a0001c0001t0112g0152 |
2 | 320 | 0.0063 | -12 | c.818 others(27): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 7/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24836908 | GAGAAAGA others(5): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0091 | a0001c0001t0013g0084 a0001c0001t0091g0124 |
2 | 195 | 0.0103 | -12 | c.818 others(27): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 7/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24836949 | AGAAAGAA others(5): Show |
A | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0280 | 1 | 320 | 0.0031 | -12 | c.818 others(27): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 7/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24910378 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(144): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0047 others(144): Show |
147 | 244 | 0.6025 | -12 | c.7-8 others(25): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24917195 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 96 | 0.0104 | -12 | c.7-1 others(27): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24928704 | TTTGTTGT others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00558.hp2 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0007 a0001c0001t0001g0115 a0001c0001t0001g0210 others(37): Show |
40 | 162 | 0.2469 | -12 | c.6+2 others(27): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24947167 | CCACACAC others(5): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG02572.hp1 HG02602.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(7): Show | a0001c0001t0001g0060 a0001c0001t0003g0048 a0001c0001t0003g0052 others(10): Show |
13 | 75 | 0.1733 | -12 | c.6+1 others(25): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
BCAT2_chr19_48790064_48816029 | 48809066 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 80 | 0.0125 | -12 | c.24+ others(27): Show |
BCAT2 | ENSG00000105552.15 | transcript | ENST00000316273.11 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
BCCIP_chr10_125818546_125841551 | 125832800 | ATCTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG00642.hp2 others(39): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0003c0003t0001 | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0019 others(11): Show |
42 | 444 | 0.0946 | -12 | c.600 others(27): Show |
BCCIP | ENSG00000107949.17 | transcript | ENST00000278100.11 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BCDIN3D_chr12_49831043_49848106 | 49837270 | GTTGTTTT others(5): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02132.hp1 HG02486.hp2 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0020 | a0001c0001t0019g0047 a0001c0001t0020g0024 |
2 | 418 | 0.0048 | -12 | c.*10 others(23): Show |
BCDIN3D | ENSG00000186666.6 | transcript | ENST00000333924.6 | protein_coding | 2/2 | 1089 | chr12 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80101811 | TAAATAAA others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0152 | 1 | 292 | 0.0034 | -12 | c.-48 others(23): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 4859 | chr6 | TogoVar | |||||||
BCKDHB_chr6_80101671_80351270 | 80128872 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0003 | a0001c0001t0003g0188 a0001c0003t0003g0096 |
2 | 50 | 0.0400 | -12 | c.275 others(27): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80230026 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0142 a0001c0001t0014g0143 a0001c0001t0014g0144 |
3 | 55 | 0.0545 | -12 | c.951 others(31): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80322889 | CTTTTTTC others(5): Show |
C | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0093 | 1 | 292 | 0.0034 | -12 | c.103 others(33): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BCKDK_chr16_31103386_31117791 | 31103564 | ACTCTCCC others(5): Show |
A | upstream_gene_variant | MODIFIER | HG02129.hp1 HG02135.hp1 HG02165.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005 | 3 | 254 | 0.0118 | -12 | c.-50 others(23): Show |
BCKDK | ENSG00000103507.14 | transcript | ENST00000219794.11 | protein_coding | 4821 | chr16 | TogoVar | |||||||
BCKDK_chr16_31103386_31117791 | 31103595 | CTCTCCGT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG02647.hp1 |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0001 | a0001c0001t0001g0002 a0005c0006t0001g0004 |
2 | 137 | 0.0146 | -12 | c.-50 others(23): Show |
BCKDK | ENSG00000103507.14 | transcript | ENST00000219794.11 | protein_coding | 4790 | chr16 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467239 | GATGGTGG others(5): Show |
G | intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0082 | 1 | 260 | 0.0038 | -12 | c.487 others(29): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467390 | GTGGTGAT others(5): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG01167.hp2 HG01169.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0022 a0001c0001t0001g0044 a0001c0001t0001g0047 others(24): Show |
27 | 255 | 0.1059 | -12 | c.487 others(29): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467648 | GTGATGAT others(5): Show |
G | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0212 | 1 | 259 | 0.0039 | -12 | c.487 others(29): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467692 | GGTGGTGA others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0056 | 1 | 260 | 0.0038 | -12 | c.487 others(29): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467839 | GGTGGTGA others(5): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG02970.hp2 HG03139.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0011a0001c0001t0015others(3): Show | a0001c0001t0010g0016 a0001c0001t0011g0187 a0001c0001t0015g0192 others(3): Show |
6 | 258 | 0.0233 | -12 | c.487 others(27): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60483965 | TTGTTAGA others(5): Show |
T | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0212 | 1 | 260 | 0.0038 | -12 | c.386 others(31): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60519539 | TTGCCTGC others(5): Show |
T | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024 | 1 | 106 | 0.0094 | -12 | c.385 others(31): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60538735 | CTCTCTGT others(5): Show |
C | intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0198 | 1 | 251 | 0.0040 | -12 | c.385 others(29): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60538737 | CTCTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0008 | a0002c0008t0003 | a0002c0008t0003g0153 | 1 | 133 | 0.0075 | -12 | c.385 others(29): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar |