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 | 60973585 | T | TTATATAT others(3): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03540.hp1 |
a0002 | a0002c0005 | a0002c0005t0001a0002c0005t0002 | a0002c0005t0001g0073 a0002c0005t0002g0074 |
2 | 74 | 0.0270 | 10 | c.122 others(31): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 14/23 | chr17 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 60973585 | T | TTTTATAT others(3): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0042 | 1 | 74 | 0.0135 | 10 | c.122 others(31): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 14/23 | chr17 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 60992189 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG01952.hp1 NA19043.hp2 |
a0002a0003 | a0002c0003a0003c0001 | a0002c0003t0001a0003c0001t0002 | a0002c0003t0001g0037 a0003c0001t0002g0032 |
2 | 74 | 0.0270 | 10 | c.148 others(29): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60992189 | T | TCCACACA others(3): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02809.hp1 HG03041.hp2 others(1): Show |
a0001a0002a0003 | a0001c0002a0002c0005a0003c0001 | a0001c0002t0002a0002c0005t0001a0003c0001t0001others(1): Show | a0001c0002t0002g0057 a0002c0005t0001g0018 a0003c0001t0001g0028 others(1): Show |
4 | 74 | 0.0541 | 10 | c.148 others(29): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 15/23 | chr17 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 61002475 | C | CAACTTTT others(3): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01099.hp1 HG01891.hp2 others(43): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0001c0008others(7): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(12): Show | a0001c0002t0001g0042 a0001c0002t0001g0056 a0001c0002t0001g0059 others(43): Show |
46 | 74 | 0.6216 | 10 | c.148 others(31): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61038670 | T | TTTTGTTT others(3): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01099.hp1 HG01891.hp2 others(38): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0001c0008others(7): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(11): Show | a0001c0002t0001g0042 a0001c0002t0001g0056 a0001c0002t0001g0059 others(38): Show |
41 | 74 | 0.5541 | 10 | c.192 others(27): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61042891 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0014 | 1 | 74 | 0.0135 | 10 | c.202 others(29): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61045823 | T | TTCTCTCT others(3): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0039 | 1 | 74 | 0.0135 | 10 | c.202 others(29): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61045954 | A | ATATATAT others(3): Show |
intron_variant | MODIFIER | HG03130.hp2 NA19240.hp1 |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0019 a0002c0005t0001g0020 |
2 | 74 | 0.0270 | 10 | c.202 others(29): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | chr17 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 61045966 | A | ATATATAT others(3): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0003 | a0003c0001 | a0003c0001t0002 | a0003c0001t0002g0022 | 1 | 74 | 0.0135 | 10 | c.202 others(29): 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(3): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0033 | 1 | 74 | 0.0135 | 10 | c.203 others(31): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61067271 | G | GTATGTAT others(3): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0044 | 1 | 74 | 0.0135 | 10 | c.203 others(29): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61067273 | G | GTATATAT others(3): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03098.hp2 |
a0001a0003 | a0001c0004a0003c0001 | a0001c0004t0001a0003c0001t0001 | a0001c0004t0001g0049 a0003c0001t0001g0026 |
2 | 74 | 0.0270 | 10 | c.203 others(29): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61070366 | A | AATATATA others(3): Show |
intron_variant | MODIFIER | HG01891.hp1 HG01952.hp1 HG02145.hp1 others(5): Show |
a0001a0003 | a0001c0004a0001c0008a0003c0001 | a0001c0004t0001a0001c0004t0002a0001c0008t0002others(2): Show | a0001c0004t0001g0047 a0001c0004t0002g0035 a0001c0008t0002g0062 others(5): Show |
8 | 74 | 0.1081 | 10 | c.203 others(29): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61095844 | T | TACACACA others(3): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02970.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0067 a0001c0002t0002g0070 |
2 | 74 | 0.0270 | 10 | 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 | 61109283 | T | TTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0062 | 1 | 74 | 0.0135 | 10 | 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 | 61191780 | A | AAAAAGAA others(3): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01952.hp2 HG02486.hp2 others(3): Show |
a0001a0002a0004 | a0001c0002a0002c0005a0004c0009 | a0001c0002t0001a0001c0002t0002a0002c0005t0001others(1): Show | a0001c0002t0001g0042 a0001c0002t0001g0056 a0001c0002t0002g0054 others(3): Show |
6 | 74 | 0.0811 | 10 | 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 | 61192246 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG03209.hp2 NA21309.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0068 a0001c0002t0002g0069 |
2 | 74 | 0.0270 | 10 | 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 | 61216516 | G | GTTTATTT others(3): Show |
intron_variant | MODIFIER | HG01891.hp2 HG01952.hp2 HG02145.hp1 others(21): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0001c0008others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(8): Show | a0001c0002t0001g0042 a0001c0002t0001g0056 a0001c0002t0001g0060 others(21): Show |
24 | 74 | 0.3243 | 10 | 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 | 61246792 | A | AGTGTGTG others(3): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03579.hp1 NA19030.hp1 |
a0002a0003 | a0002c0003a0003c0001 | a0002c0003t0002a0003c0001t0001 | a0002c0003t0002g0036 a0003c0001t0001g0025 a0003c0001t0001g0028 |
3 | 74 | 0.0405 | 10 | 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 | 61254777 | G | GAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0028 | 1 | 74 | 0.0135 | 10 | 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 | 61271424 | A | ATTTTTTT others(3): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0057 | 1 | 74 | 0.0135 | 10 | 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 | 61277616 | T | TAGAATAT others(3): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02083.hp1 HG02145.hp2 others(24): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0001c0008others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(10): Show | a0001c0002t0001g0059 a0001c0002t0001g0063 a0001c0002t0001g0071 others(24): Show |
27 | 74 | 0.3649 | 10 | 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 | 61285231 | T | TTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03195.hp1 HG03540.hp1 others(2): Show |
a0002a0003 | a0002c0003a0002c0005a0002c0006others(1): Show | a0002c0003t0002a0002c0005t0001a0002c0005t0002others(2): Show | a0002c0003t0002g0036 a0002c0005t0001g0019 a0002c0005t0002g0074 others(2): Show |
5 | 74 | 0.0676 | 10 | 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 | 61322856 | C | CAGAGAGA others(3): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0047 | 1 | 74 | 0.0135 | 10 | 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 | 61375218 | T | TTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02615.hp1 |
a0001a0003 | a0001c0002a0001c0004a0003c0001 | a0001c0002t0001a0001c0004t0001a0003c0001t0001 | a0001c0002t0001g0056 a0001c0004t0001g0047 a0003c0001t0001g0002 |
3 | 74 | 0.0405 | 10 | c.259 others(29): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24836908 | G | GAAAGAAA others(3): Show |
intron_variant | MODIFIER | HG02135.hp1 HG02717.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0218 a0001c0001t0002g0265 a0001c0001t0009g0159 |
3 | 322 | 0.0093 | 10 | c.818 others(25): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 7/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24844894 | C | CAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00642.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0032others(2): Show | a0001c0001t0003g0215 a0001c0001t0005g0222 a0001c0001t0005g0228 others(4): Show |
7 | 322 | 0.0217 | 10 | c.675 others(27): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24874856 | G | GGTGTCTA others(3): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0005 | a0005c0005 | a0005c0005t0003 | a0005c0005t0003g0080 | 1 | 322 | 0.0031 | 10 | c.510 others(27): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 5/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24887061 | T | TAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00741.hp1 others(23): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0010 a0001c0001t0001g0125 a0001c0001t0001g0135 others(23): Show |
26 | 322 | 0.0808 | 10 | c.280 others(27): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24887061 | T | TAAAAATA others(3): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00609.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0064 a0001c0001t0001g0094 a0001c0001t0003g0034 others(17): Show |
20 | 322 | 0.0621 | 10 | c.280 others(27): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24887080 | A | AAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01123.hp1 HG01255.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0167 a0001c0001t0001g0188 a0001c0001t0001g0235 others(13): Show |
16 | 322 | 0.0497 | 10 | c.280 others(27): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24887080 | A | AAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG02683.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0052a0001c0001t0088 | a0001c0001t0052g0199 a0001c0001t0088g0099 |
2 | 322 | 0.0062 | 10 | c.280 others(27): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24892059 | T | TTTTTGTT others(3): Show |
intron_variant | MODIFIER | HG03017.hp2 HG03831.hp1 NA18747.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0041a0001c0001t0084 | a0001c0001t0001g0037 a0001c0001t0001g0246 a0001c0001t0041g0008 others(1): Show |
4 | 322 | 0.0124 | 10 | c.279 others(27): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24892093 | T | TGTTTTGT others(3): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0224 | 1 | 322 | 0.0031 | 10 | c.279 others(27): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24898520 | C | CTTTTTTT others(3): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00639.hp2 others(30): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0009 a0001c0001t0001g0067 a0001c0001t0001g0092 others(30): Show |
33 | 322 | 0.1025 | 10 | c.78+ others(25): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 2/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24951590 | C | CAAAAAAA others(3): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0035 | a0001c0001t0021g0105 a0001c0001t0035g0104 |
2 | 322 | 0.0062 | 10 | c.-26 others(21): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 2490 | chr12 | TogoVar | |||||||
BCAT2_chr19_48790064_48816029 | 48811494 | C | CAAAAAAA others(3): Show |
upstream_gene_variant | MODIFIER | HG01433.hp1 HG02145.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0002g0063 |
3 | 408 | 0.0074 | 10 | c.-48 others(19): Show |
BCAT2 | ENSG00000105552.15 | transcript | ENST00000316273.11 | protein_coding | 466 | chr19 | TogoVar | |||||||
BCCIP_chr10_125818546_125841551 | 125826996 | T | TAAAAAAA others(3): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 446 | 0.0022 | 10 | c.240 others(25): Show |
BCCIP | ENSG00000107949.17 | transcript | ENST00000278100.11 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BCHE_chr3_165767904_165842423 | 165791948 | A | AAAAATAA others(3): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00673.hp2 HG02080.hp1 others(16): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0004 | a0001c0001t0001a0001c0001t0002a0002c0002t0008others(1): Show | a0001c0001t0001g0048 a0001c0001t0001g0160 a0001c0001t0001g0187 others(13): Show |
19 | 304 | 0.0625 | 10 | c.151 others(29): Show |
BCHE | ENSG00000114200.10 | transcript | ENST00000264381.8 | protein_coding | 2/3 | chr3 | TogoVar | |||||||
BCKDHA_chr19_41392818_41430002 | 41429825 | G | GTTTCTTT others(3): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 374 | 0.0027 | 10 | c.*52 others(21): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4824 | chr19 | TogoVar | |||||||
BCKDHB_chr6_80101671_80351270 | 80107516 | T | TATATATA others(3): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0003 | a0001c0003t0022 | a0001c0003t0022g0106 | 1 | 294 | 0.0034 | 10 | c.196 others(25): 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(3): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00609.hp1 others(50): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0205 others(50): Show |
53 | 294 | 0.1803 | 10 | c.196 others(25): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80107520 | T | TATATATG others(3): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 294 | 0.0034 | 10 | c.196 others(25): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80205791 | G | GGTGTGTG others(3): Show |
intron_variant | MODIFIER | NA19003.hp2 NA19081.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0053 |
2 | 294 | 0.0068 | 10 | c.951 others(27): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60507301 | G | GGGGAAGG others(3): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0258 | 1 | 262 | 0.0038 | 10 | c.386 others(29): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60507316 | G | GGGGAAGG others(3): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02630.hp1 HG03041.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0023others(1): Show | a0001c0001t0005g0227 a0001c0001t0007g0098 a0001c0001t0023g0203 others(1): Show |
4 | 262 | 0.0153 | 10 | c.386 others(29): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60521067 | G | GCACACAC others(3): Show |
intron_variant | MODIFIER | HG01884.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0029 a0001c0001t0004g0074 |
2 | 262 | 0.0076 | 10 | c.385 others(29): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60540946 | T | TTGTGTGT others(3): Show |
intron_variant | MODIFIER | HG03927.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0045 a0001c0001t0003g0152 |
2 | 262 | 0.0076 | 10 | c.385 others(27): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60553511 | A | AAAAAAAG others(3): Show |
5_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00738.hp1 HG01123.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0006a0001c0001t0024a0001c0001t0063others(2): Show | a0001c0001t0006g0236 a0001c0001t0006g0239 a0001c0001t0006g0240 others(10): Show |
13 | 262 | 0.0496 | 10 | c.-24 others(19): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 1/4 | 242 | chr2 | TogoVar |