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 | 60814300 | T | TGTGCGC | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02818.hp2 others(7): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0002t0002a0001c0008t0002 | a0001c0002t0001g0059 a0001c0002t0001g0063 a0001c0002t0001g0065 others(7): Show |
10 | 69 | 0.1449 | 6 | c.476 others(23): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60911123 | C | CTTTTTT | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02615.hp2 others(14): Show |
a0001a0002 | a0001c0002a0001c0008a0002c0003others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0008t0002others(2): Show | a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 others(14): Show |
17 | 41 | 0.4146 | 6 | c.993 others(21): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60967949 | T | TTTGTTG | intron_variant | MODIFIER | HG00639.hp1 HG02922.hp2 HG02965.hp1 others(3): Show |
a0002a0003 | a0002c0003a0002c0006a0003c0010 | a0002c0003t0001a0002c0006t0002a0003c0010t0002 | a0002c0003t0001g0015 a0002c0003t0001g0016 a0002c0003t0001g0017 others(3): Show |
6 | 38 | 0.1579 | 6 | c.122 others(27): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60973585 | T | TTATATA | intron_variant | MODIFIER | HG01891.hp2 HG03041.hp2 HG03130.hp2 others(1): Show |
a0002 | a0002c0005a0002c0007 | a0002c0005t0001a0002c0007t0001 | a0002c0005t0001g0018 a0002c0005t0001g0019 a0002c0005t0001g0020 others(1): Show |
4 | 60 | 0.0667 | 6 | c.122 others(27): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 14/23 | chr17 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 60976020 | C | CTTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG01099.hp2 HG01256.hp1 others(38): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0001c0008others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(6): Show | a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0063 others(38): Show |
41 | 47 | 0.8723 | 6 | c.122 others(27): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60988186 | T | TAAATGA | 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 | 6 | c.122 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 14/23 | chr17 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 60991825 | G | GTTAAAT | 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 | 6 | c.148 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60992189 | T | TACACAC | intron_variant | MODIFIER | HG01256.hp2 HG02486.hp1 HG02559.hp2 others(5): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0003others(1): Show | a0001c0002t0001a0001c0004t0001a0001c0004t0002others(4): Show | a0001c0002t0001g0060 a0001c0004t0001g0034 a0001c0004t0002g0050 others(5): Show |
8 | 31 | 0.2581 | 6 | c.148 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60992189 | T | TCCACAC | intron_variant | MODIFIER | HG02615.hp1 HG02886.hp2 HG03225.hp2 |
a0001a0004 | a0001c0002a0004c0009 | a0001c0002t0001a0001c0002t0002a0004c0009t0001 | a0001c0002t0001g0056 a0001c0002t0002g0053 a0004c0009t0001g0055 |
3 | 26 | 0.1154 | 6 | c.148 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 15/23 | chr17 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 61042891 | C | CAAAAAA | intron_variant | MODIFIER | HG02083.hp2 HG02559.hp1 HG02897.hp2 others(9): Show |
a0001a0002a0003 | a0001c0004a0002c0003a0002c0005others(2): Show | a0001c0004t0001a0001c0004t0002a0002c0003t0001others(4): Show | a0001c0004t0001g0045 a0001c0004t0001g0046 a0001c0004t0002g0044 others(9): Show |
12 | 24 | 0.5000 | 6 | c.202 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61045823 | T | TTCTCTC | intron_variant | MODIFIER | HG02145.hp2 HG02615.hp2 HG02818.hp2 others(8): Show |
a0001a0002a0003 | a0001c0002a0002c0005a0003c0010 | a0001c0002t0001a0001c0002t0002a0002c0005t0001others(1): Show | a0001c0002t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0065 others(8): Show |
11 | 51 | 0.2157 | 6 | c.202 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61067273 | G | GTATATA | intron_variant | MODIFIER | HG02083.hp1 HG03453.hp2 NA20129.hp2 |
a0001a0003 | a0001c0004a0003c0001 | a0001c0004t0001a0003c0001t0001 | a0001c0004t0001g0034 a0001c0004t0001g0043 a0003c0001t0001g0009 |
3 | 21 | 0.1429 | 6 | c.203 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61070366 | A | AATATAT | intron_variant | MODIFIER | HG01099.hp2 HG02486.hp1 |
a0002a0003 | a0002c0003a0003c0001 | a0002c0003t0002a0003c0001t0001 | a0002c0003t0002g0039 a0003c0001t0001g0008 |
2 | 3 | 0.6667 | 6 | c.203 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61095844 | T | TACACAC | intron_variant | MODIFIER | HG00639.hp1 HG02615.hp2 HG02965.hp2 others(3): Show |
a0001a0002a0003 | a0001c0002a0002c0005a0002c0006others(1): Show | a0001c0002t0001a0001c0002t0002a0002c0005t0001others(2): Show | a0001c0002t0001g0061 a0001c0002t0001g0071 a0001c0002t0002g0064 others(3): Show |
6 | 54 | 0.1111 | 6 | c.242 others(27): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61109283 | T | TTGTGTG | intron_variant | MODIFIER | HG01952.hp1 HG02486.hp1 HG02818.hp1 others(7): Show |
a0001a0002a0003 | a0001c0004a0002c0003a0003c0001 | a0001c0004t0001a0001c0004t0002a0002c0003t0001others(3): Show | a0001c0004t0001g0034 a0001c0004t0002g0035 a0001c0004t0002g0072 others(7): Show |
10 | 51 | 0.1961 | 6 | c.242 others(27): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61199721 | A | ATCATAG | intron_variant | MODIFIER | HG02083.hp2 NA18951.hp2 |
a0002a0003 | a0002c0003a0003c0001 | a0002c0003t0001a0003c0001t0001 | a0002c0003t0001g0040 a0003c0001t0001g0011 |
2 | 74 | 0.0270 | 6 | c.242 others(29): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | chr17 | TogoVar | |||||||
BCAS3_chr17_60672851_61397831 | 61230142 | T | TACACAC | intron_variant | MODIFIER | HG02809.hp2 HG02818.hp1 HG02818.hp2 others(3): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0003others(1): Show | a0001c0002t0002a0001c0004t0002a0002c0003t0001others(1): Show | a0001c0002t0002g0070 a0001c0004t0002g0035 a0002c0003t0001g0033 others(3): Show |
6 | 13 | 0.4615 | 6 | 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 | 61246792 | A | AGTGTGT | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp2 HG02818.hp1 others(5): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0003others(2): Show | a0001c0002t0001a0001c0004t0002a0002c0003t0001others(3): Show | a0001c0002t0001g0063 a0001c0004t0002g0035 a0001c0004t0002g0050 others(5): Show |
8 | 24 | 0.3333 | 6 | 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 | 61285231 | T | TTGTGTG | intron_variant | MODIFIER | HG02559.hp2 HG02615.hp2 HG02886.hp2 others(7): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0001c0008others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(4): Show | a0001c0002t0001g0071 a0001c0002t0002g0053 a0001c0004t0001g0045 others(7): Show |
10 | 45 | 0.2222 | 6 | c.242 others(27): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61372901 | G | GATATAA | intron_variant | MODIFIER | HG02970.hp2 HG03098.hp1 HG03471.hp2 |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0002c0005t0001 | a0001c0002t0001g0061 a0001c0002t0001g0067 a0002c0005t0001g0051 |
3 | 74 | 0.0405 | 6 | c.259 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61375218 | T | TTGTGTG | intron_variant | MODIFIER | HG01099.hp2 HG01256.hp1 HG02083.hp2 others(6): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0003others(1): Show | a0001c0002t0001a0001c0004t0001a0002c0003t0001others(1): Show | a0001c0002t0001g0063 a0001c0004t0001g0043 a0002c0003t0001g0040 others(6): Show |
9 | 36 | 0.2500 | 6 | c.259 others(25): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BCAS4_chr20_50790061_50882177 | 50796452 | C | CATATAT | intron_variant | MODIFIER | HG01255.hp1 HG01361.hp1 HG02083.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 others(2): Show |
5 | 205 | 0.0244 | 6 | c.90+ others(21): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BCAS4_chr20_50790061_50882177 | 50816791 | A | ATTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG01943.hp2 HG01975.hp2 others(15): Show |
a0002a0003 | a0002c0002a0003c0005 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(3): Show | a0002c0002t0001g0019 a0002c0002t0001g0023 a0002c0002t0001g0024 others(15): Show |
18 | 107 | 0.1682 | 6 | c.91- others(21): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BCAS4_chr20_50790061_50882177 | 50855576 | T | TGGAAGG | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02257.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0005 | a0001c0001t0002a0001c0004t0002a0001c0004t0005others(1): Show | a0001c0001t0002g0074 a0001c0001t0002g0175 a0001c0001t0002g0195 others(5): Show |
8 | 268 | 0.0299 | 6 | c.399 others(25): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BCAS4_chr20_50790061_50882177 | 50858925 | C | CTATTAT | intron_variant | MODIFIER | HG00423.hp2 HG01106.hp2 HG01256.hp1 others(46): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0079 a0001c0001t0001g0128 a0001c0001t0001g0129 others(46): Show |
49 | 193 | 0.2539 | 6 | c.399 others(25): Show |
BCAS4 | ENSG00000124243.19 | transcript | ENST00000371608.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24833818 | C | CTTTTTT | intron_variant | MODIFIER | HG02630.hp2 HG02738.hp1 HG04204.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0036a0001c0001t0121others(1): Show | a0001c0001t0003g0134 a0001c0001t0003g0212 a0001c0001t0036g0107 others(2): Show |
5 | 270 | 0.0185 | 6 | c.904 others(21): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 8/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24836908 | G | GAAAGAA | intron_variant | MODIFIER | HG00673.hp1 HG02976.hp2 NA18964.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0035others(2): Show | a0001c0001t0001g0115 a0001c0001t0011g0322 a0001c0001t0035g0104 others(2): Show |
5 | 198 | 0.0253 | 6 | c.818 others(21): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 7/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24852422 | G | GCTATCA | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00609.hp1 others(71): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(36): Show | a0001c0001t0001g0064 a0001c0001t0001g0094 a0001c0001t0001g0291 others(71): Show |
74 | 320 | 0.2313 | 6 | c.511 others(23): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 5/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24887060 | C | CTAAAAA | intron_variant | MODIFIER | HG01243.hp2 HG03471.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0073a0001c0001t0082 | a0001c0001t0002g0259 a0001c0001t0073g0156 a0001c0001t0082g0023 |
3 | 320 | 0.0094 | 6 | c.280 others(23): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24887061 | T | TAAAAAA | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01099.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0017others(1): Show | a0001c0001t0001g0068 a0001c0001t0001g0210 a0001c0001t0004g0232 others(4): Show |
7 | 169 | 0.0414 | 6 | c.280 others(23): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24898520 | C | CTTTTTT | intron_variant | MODIFIER | HG01517.hp1 HG02523.hp1 HG02717.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(4): Show | a0001c0001t0001g0090 a0001c0001t0010g0149 a0001c0001t0013g0200 others(5): Show |
8 | 30 | 0.2667 | 6 | c.78+ others(21): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 2/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24928704 | T | TTTGTTG | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02630.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0021a0001c0001t0029others(2): Show | a0001c0001t0018g0296 a0001c0001t0021g0293 a0001c0001t0021g0294 others(3): Show |
6 | 128 | 0.0469 | 6 | c.6+2 others(21): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24936712 | A | ATCTCTC | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp1 HG00609.hp2 others(88): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0047 a0001c0001t0001g0067 a0001c0001t0001g0068 others(88): Show |
91 | 213 | 0.4272 | 6 | c.6+1 others(21): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24943493 | G | GAAAAAA | intron_variant | MODIFIER | HG00621.hp1 HG01106.hp2 HG02132.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0218 a0001c0001t0001g0248 a0001c0001t0003g0025 others(6): Show |
9 | 36 | 0.2500 | 6 | c.6+5 others(19): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24947167 | C | CCACACA | intron_variant | MODIFIER | HG01169.hp1 HG01884.hp1 HG02738.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0003g0212 others(4): Show |
7 | 69 | 0.1014 | 6 | c.6+1 others(19): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24951590 | C | CAAAAAA | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00735.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(9): Show | a0001c0001t0001g0037 a0001c0001t0003g0048 a0001c0001t0008g0058 others(10): Show |
13 | 14 | 0.9286 | 6 | c.-26 others(17): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 2490 | chr12 | TogoVar | |||||||
BCAT1_chr12_24805024_24954101 | 24953405 | G | GACACAC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(258): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(102): Show | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 others(258): Show |
261 | 319 | 0.8182 | 6 | c.-44 others(17): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 4305 | chr12 | TogoVar | |||||||
BCAT2_chr19_48790064_48816029 | 48793976 | C | CTGTGTG | downstream_gene_variant | MODIFIER | HG02451.hp1 HG02572.hp1 HG03486.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0062 a0001c0001t0001g0086 others(2): Show |
5 | 128 | 0.0391 | 6 | c.*14 others(17): Show |
BCAT2 | ENSG00000105552.15 | transcript | ENST00000316273.11 | protein_coding | 1087 | chr19 | TogoVar | |||||||
BCAT2_chr19_48790064_48816029 | 48809066 | C | CAAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG00642.hp1 HG01069.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0033 a0001c0001t0001g0055 others(8): Show |
20 | 99 | 0.2020 | 6 | c.24+ others(21): Show |
BCAT2 | ENSG00000105552.15 | transcript | ENST00000316273.11 | protein_coding | 1/10 | chr19 | TogoVar | |||||||
BCAT2_chr19_48790064_48816029 | 48811494 | C | CAAAAAA | upstream_gene_variant | MODIFIER | HG00733.hp1 HG01074.hp2 HG01099.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0016 others(9): Show |
21 | 124 | 0.1694 | 6 | c.-48 others(15): Show |
BCAT2 | ENSG00000105552.15 | transcript | ENST00000316273.11 | protein_coding | 466 | chr19 | TogoVar | |||||||
BCHE_chr3_165767904_165842423 | 165797240 | C | CTTCCTT | intron_variant | MODIFIER | HG01433.hp2 HG02895.hp1 HG02897.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0221 a0001c0001t0006g0222 a0001c0001t0006g0223 others(2): Show |
5 | 302 | 0.0166 | 6 | c.151 others(27): Show |
BCHE | ENSG00000114200.10 | transcript | ENST00000264381.8 | protein_coding | 2/3 | chr3 | TogoVar | |||||||
BCKDHB_chr6_80101671_80351270 | 80107423 | A | ATGTGTG | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG00673.hp1 others(51): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0157 others(50): Show |
54 | 233 | 0.2318 | 6 | c.196 others(21): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80205791 | G | GGTGTGT | intron_variant | MODIFIER | HG00609.hp2 HG00738.hp2 HG02257.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0023 others(10): Show |
13 | 106 | 0.1226 | 6 | c.951 others(23): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80206541 | T | TTGTGTG | intron_variant | MODIFIER | HG02257.hp1 HG02257.hp2 HG02559.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0018others(1): Show | a0001c0001t0003g0094 a0001c0001t0011g0093 a0001c0001t0011g0137 others(3): Show |
6 | 210 | 0.0286 | 6 | c.951 others(23): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80288332 | A | ATTTCAT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(206): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(206): Show |
209 | 291 | 0.7182 | 6 | c.103 others(27): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BCKDHB_chr6_80101671_80351270 | 80335231 | G | GGAAAAA | intron_variant | MODIFIER | HG02129.hp1 NA18962.hp2 NA18968.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 others(6): Show |
9 | 283 | 0.0318 | 6 | c.103 others(25): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 9/9 | chr6 | TogoVar | |||||||
BCKDHB_chr6_80101671_80351270 | 80335245 | A | AAAAAAG | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00558.hp2 others(53): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(5): Show | a0001c0001t0002g0025 a0001c0001t0002g0057 a0001c0001t0002g0063 others(53): Show |
56 | 237 | 0.2363 | 6 | c.103 others(25): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BCKDK_chr16_31103386_31117791 | 31103564 | A | ACTCTCC | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG00738.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 |
18 | 269 | 0.0669 | 6 | c.-50 others(17): Show |
BCKDK | ENSG00000103507.14 | transcript | ENST00000219794.11 | protein_coding | 4821 | chr16 | TogoVar | |||||||
BCKDK_chr16_31103386_31117791 | 31103577 | C | CTCTCCG | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02056.hp2 HG02258.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0002t0001g0001 |
11 | 294 | 0.0374 | 6 | c.-50 others(17): Show |
BCKDK | ENSG00000103507.14 | transcript | ENST00000219794.11 | protein_coding | 4808 | chr16 | TogoVar | |||||||
BCKDK_chr16_31103386_31117791 | 31103583 | C | CTCTCCG | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00609.hp2 others(43): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 a0001c0002t0001g0008 a0001c0002t0001g0009 |
46 | 233 | 0.1974 | 6 | c.-50 others(17): Show |
BCKDK | ENSG00000103507.14 | transcript | ENST00000219794.11 | protein_coding | 4802 | chr16 | TogoVar |