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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCAT1_chr12_24805024_24954101 | 24844894 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0130 | a0001c0001t0130g0317 | 1 | 322 | 0.0031 | 12 | c.675 others(29): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24887061 | T | TAAAAATA others(5): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0097 | 1 | 322 | 0.0031 | 12 | c.280 others(29): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24887080 | A | AAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG04204.hp2 NA18972.hp2 NA19083.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0022a0001c0001t0027 | a0001c0001t0001g0138 a0001c0001t0022g0112 a0001c0001t0027g0196 |
3 | 322 | 0.0093 | 12 | c.280 others(29): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24887080 | A | AAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01106.hp2 HG02723.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0002g0004 a0001c0001t0003g0074 a0001c0001t0003g0134 others(5): Show |
8 | 322 | 0.0248 | 12 | c.280 others(29): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24887080 | A | AAAAAAAA others(5): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0065 | 1 | 322 | 0.0031 | 12 | c.280 others(29): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24898520 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG00639.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(22): Show | a0001c0001t0001g0210 a0001c0001t0001g0236 a0001c0001t0002g0131 others(29): Show |
32 | 322 | 0.0994 | 12 | c.78+ others(27): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 2/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24951590 | C | CAAAAAAA others(5): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0091 | a0001c0001t0091g0290 | 1 | 322 | 0.0031 | 12 | c.-26 others(23): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 2490 | chr12 | TogoVar | |||||||
BCAT2_chr19_48790064_48816029 | 48811494 | C | CAAAAAAA others(5): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01346.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0044 others(10): Show |
15 | 408 | 0.0368 | 12 | c.-48 others(21): Show |
BCAT2 | ENSG00000105552.15 | transcript | ENST00000316273.11 | protein_coding | 466 | chr19 | TogoVar | |||||||
BCCIP_chr10_125818546_125841551 | 125826996 | T | TAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(241): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(87): Show |
244 | 446 | 0.5471 | 12 | c.240 others(27): Show |
BCCIP | ENSG00000107949.17 | transcript | ENST00000278100.11 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BCDIN3D_chr12_49831043_49848106 | 49833895 | G | GTGTTAGG others(5): Show |
downstream_gene_variant | MODIFIER | NA19086.hp2 | a0010 | a0010c0010 | a0010c0010t0023 | a0010c0010t0023g0050 | 1 | 420 | 0.0024 | 12 | c.*44 others(23): Show |
BCDIN3D | ENSG00000186666.6 | transcript | ENST00000333924.6 | protein_coding | 2147 | chr12 | TogoVar | |||||||
BCKDHA_chr19_41392818_41430002 | 41412380 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02630.hp2 HG02965.hp1 |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0257 a0001c0009t0001g0258 a0001c0009t0001g0259 |
3 | 374 | 0.0080 | 12 | c.375 others(29): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BCKDHA_chr19_41392818_41430002 | 41425549 | A | AGGCCAGG others(5): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 374 | 0.0027 | 12 | c.*94 others(21): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 548 | chr19 | TogoVar | |||||||
BCKDHA_chr19_41392818_41430002 | 41425549 | A | AGGCCAGG others(5): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0102 | 1 | 374 | 0.0027 | 12 | c.*94 others(21): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 548 | chr19 | TogoVar | |||||||
BCKDHA_chr19_41392818_41430002 | 41425549 | A | AGGCCAGG others(5): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(235): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(14): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(183): Show |
238 | 374 | 0.6364 | 12 | c.*94 others(21): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 548 | chr19 | TogoVar | |||||||
BCKDHA_chr19_41392818_41430002 | 41425551 | G | GCCAGGGC others(5): Show |
downstream_gene_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 374 | 0.0027 | 12 | c.*94 others(21): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 550 | chr19 | TogoVar | |||||||
BCKDHA_chr19_41392818_41430002 | 41427477 | A | AGGAGAGA others(5): Show |
downstream_gene_variant | MODIFIER | HG02818.hp2 NA19030.hp2 |
a0001 | a0001c0008a0001c0015 | a0001c0008t0001a0001c0015t0001 | a0001c0008t0001g0261 a0001c0015t0001g0260 |
2 | 374 | 0.0054 | 12 | c.*28 others(23): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 2476 | chr19 | TogoVar | |||||||
BCKDHB_chr6_80101671_80351270 | 80101783 | A | AAAATAAA others(5): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG01069.hp2 HG01071.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0002g0280 a0001c0001t0004g0142 a0001c0001t0005g0193 others(6): Show |
9 | 294 | 0.0306 | 12 | c.-49 others(23): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 4887 | chr6 | TogoVar | |||||||
BCKDHB_chr6_80101671_80351270 | 80101819 | T | TAAATAAA others(5): Show |
upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0210 | 1 | 294 | 0.0034 | 12 | c.-48 others(23): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 4851 | chr6 | TogoVar | |||||||
BCKDHB_chr6_80101671_80351270 | 80107516 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01074.hp2 HG01081.hp1 others(31): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0164 others(31): Show |
34 | 294 | 0.1157 | 12 | c.196 others(27): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80107518 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(81): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(81): Show |
84 | 294 | 0.2857 | 12 | c.196 others(27): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80107518 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | NA18940.hp2 NA19080.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0086 a0001c0001t0006g0085 |
2 | 294 | 0.0068 | 12 | c.196 others(27): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80134743 | T | TTTTATTT others(5): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02258.hp2 HG02630.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0034others(1): Show | a0001c0001t0004g0178 a0001c0001t0005g0206 a0001c0001t0005g0207 others(5): Show |
8 | 294 | 0.0272 | 12 | c.343 others(29): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80168791 | A | AAGGAAGG others(5): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0003 | a0001c0003t0022 | a0001c0003t0022g0106 | 1 | 294 | 0.0034 | 12 | c.478 others(25): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80168791 | A | AAGGGAGG others(5): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0015 | a0001c0001t0003g0214 a0001c0001t0015g0215 |
2 | 294 | 0.0068 | 12 | c.478 others(25): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80197934 | T | TCATCCAT others(5): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02886.hp1 NA18942.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0187 a0001c0001t0004g0211 a0001c0001t0004g0212 |
3 | 294 | 0.0102 | 12 | c.743 others(29): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80205791 | G | GGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02630.hp1 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0019others(1): Show | a0001c0001t0001g0072 a0001c0001t0003g0110 a0001c0001t0019g0107 others(1): Show |
4 | 294 | 0.0136 | 12 | c.951 others(29): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80342556 | G | GAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0081 | 1 | 294 | 0.0034 | 12 | c.103 others(31): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80345763 | G | GTGGCCAC others(5): Show |
3_prime_UTR_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0113 | 1 | 294 | 0.0034 | 12 | c.*19 others(23): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 10/10 | 1973 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCKDK_chr16_31103386_31117791 | 31103564 | A | ACTCTCCC others(5): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0004g0001 |
15 | 300 | 0.0500 | 12 | c.-50 others(23): Show |
BCKDK | ENSG00000103507.14 | transcript | ENST00000219794.11 | protein_coding | 4821 | chr16 | TogoVar | |||||||
BCKDK_chr16_31103386_31117791 | 31103577 | C | CTCTCCGT others(5): Show |
upstream_gene_variant | MODIFIER | HG03579.hp2 NA19030.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0002t0001g0006 |
2 | 300 | 0.0067 | 12 | c.-50 others(23): Show |
BCKDK | ENSG00000103507.14 | transcript | ENST00000219794.11 | protein_coding | 4808 | chr16 | TogoVar | |||||||
BCKDK_chr16_31103386_31117791 | 31103583 | C | CTCTCCGT others(5): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00639.hp2 others(24): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0008 others(1): Show |
27 | 300 | 0.0900 | 12 | c.-50 others(23): Show |
BCKDK | ENSG00000103507.14 | transcript | ENST00000219794.11 | protein_coding | 4802 | chr16 | TogoVar | |||||||
BCKDK_chr16_31103386_31117791 | 31103595 | C | CTCTCCGT others(5): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0007 |
2 | 300 | 0.0067 | 12 | c.-50 others(23): Show |
BCKDK | ENSG00000103507.14 | transcript | ENST00000219794.11 | protein_coding | 4790 | chr16 | TogoVar | |||||||
BCKDK_chr16_31103386_31117791 | 31117369 | A | AAAATAAA others(5): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG00741.hp2 others(18): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0002c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(3): Show |
21 | 300 | 0.0700 | 12 | c.*51 others(23): Show |
BCKDK | ENSG00000103507.14 | transcript | ENST00000219794.11 | protein_coding | 4579 | chr16 | TogoVar | |||||||
BCKDK_chr16_31103386_31117791 | 31117398 | A | AAATAAAT others(5): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG01123.hp2 HG02300.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 300 | 0.0167 | 12 | c.*51 others(23): Show |
BCKDK | ENSG00000103507.14 | transcript | ENST00000219794.11 | protein_coding | 4608 | chr16 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467138 | T | TTGGTGGT others(5): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0068 | 1 | 262 | 0.0038 | 12 | c.487 others(29): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467149 | G | GATGGTGG others(5): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0079 | 1 | 262 | 0.0038 | 12 | c.487 others(29): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467294 | G | GTGATGAT others(5): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0234 | 1 | 262 | 0.0038 | 12 | c.487 others(29): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467399 | G | GTACTGGT others(5): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01934.hp1 HG02004.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0090 a0001c0001t0003g0171 a0001c0001t0004g0067 others(5): Show |
8 | 262 | 0.0305 | 12 | c.487 others(29): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467449 | A | ACTGCTGG others(5): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0022 | 1 | 262 | 0.0038 | 12 | c.487 others(29): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467490 | T | TGATGGTG others(5): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01361.hp1 HG03139.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0004a0001c0001t0013a0001c0008t0002 | a0001c0001t0004g0078 a0001c0001t0013g0253 a0001c0008t0002g0096 |
3 | 262 | 0.0115 | 12 | c.487 others(29): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467495 | G | GTGGTGGT others(5): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0047 | 1 | 262 | 0.0038 | 12 | c.487 others(29): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467597 | G | GTACTGGT others(5): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02300.hp2 NA18994.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012a0001c0001t0020 | a0001c0001t0003g0153 a0001c0001t0012g0215 a0001c0001t0020g0047 |
3 | 262 | 0.0115 | 12 | c.487 others(29): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60467824 | G | GGTGGTGG others(5): Show |
intron_variant | MODIFIER | HG02129.hp1 NA19065.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0173 a0001c0001t0003g0177 |
2 | 262 | 0.0076 | 12 | c.487 others(27): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60477600 | T | TAAAGAAA others(5): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00642.hp2 HG00733.hp2 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0054 others(24): Show |
28 | 262 | 0.1069 | 12 | c.386 others(29): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60519539 | T | TTGCCTGC others(5): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01943.hp1 HG01952.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0025a0001c0001t0036others(1): Show | a0001c0001t0004g0084 a0001c0001t0004g0087 a0001c0001t0025g0003 others(2): Show |
5 | 262 | 0.0191 | 12 | c.385 others(31): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60540946 | T | TTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01978.hp2 NA19006.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0009a0001c0001t0020a0001c0003t0002 | a0001c0001t0009g0195 a0001c0001t0020g0041 a0001c0003t0002g0107 |
3 | 262 | 0.0115 | 12 | c.385 others(29): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60553511 | A | AAAAAAAA others(5): Show |
5_prime_UTR_variant | MODIFIER | HG01361.hp2 HG01975.hp2 HG03098.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0016a0001c0002t0016 | a0001c0001t0016g0254 a0001c0001t0016g0256 a0001c0001t0016g0257 others(1): Show |
4 | 262 | 0.0153 | 12 | c.-24 others(21): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 1/4 | 242 | chr2 | TogoVar | ||||||
BCL11B_chr14_99164287_99277197 | 99188537 | C | CCTGGGGC others(5): Show |
intron_variant | MODIFIER | HG02451.hp2 NA19010.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0180 a0001c0002t0003g0194 |
2 | 350 | 0.0057 | 12 | c.641 others(31): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3/3 | chr14 | TogoVar | |||||||
BCL11B_chr14_99164287_99277197 | 99199681 | T | TGCGCGCG others(5): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0333 | 1 | 350 | 0.0029 | 12 | c.641 others(31): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3/3 | chr14 | TogoVar | |||||||
BCL11B_chr14_99164287_99277197 | 99199683 | T | TGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0248 | 1 | 350 | 0.0029 | 12 | c.641 others(31): Show |
BCL11B | ENSG00000127152.18 | transcript | ENST00000357195.8 | protein_coding | 3/3 | chr14 | TogoVar |