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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BBOX1_chr11_27035815_27132809 | 27057063 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG01071.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0010a0001c0001t0012others(2): Show | a0001c0001t0001g0015a0001c0001t0001g0117a0001c0001t0001g0190others(13): Show | 18 | 318 | 0.0566 | 19 | c.220 others(34): Show |
BBOX1 | ENSG00000129151.9 | transcript | ENST00000263182.8 | protein_coding | 3/8 | chr11 | TogoVar | ||||||
BBS2_chr16_56479385_56525024 | 56480352 | C | CACAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG02559.hp1 HG02698.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0013others(2): Show | 5 | 398 | 0.0126 | 19 | c.*44 others(30): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 4032 | chr16 | TogoVar | ||||||
BBS2_chr16_56479385_56525024 | 56480352 | C | CACACAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG03942.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0154 | 2 | 398 | 0.0050 | 19 | c.*44 others(30): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 4032 | chr16 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72687124 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00733.hp2 HG00738.hp1 others(58): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0292a0001c0001t0001g0293a0001c0001t0001g0294others(57): Show | 61 | 398 | 0.1533 | 19 | c.24+ others(32): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBS4_chr15_72681207_72743473 | 72688411 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG00735.hp1 others(14): Show |
a0001a0005a0008 | a0001c0001a0005c0011a0008c0012 | a0001c0001t0001a0001c0001t0007a0005c0011t0001others(1): Show | a0001c0001t0001g0022a0001c0001t0001g0028a0001c0001t0001g0033others(14): Show | 17 | 398 | 0.0427 | 19 | c.24+ others(34): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBS4_chr15_72681207_72743473 | 72702802 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG01361.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0024a0001c0001t0001g0028others(15): Show | 18 | 398 | 0.0452 | 19 | c.77- others(34): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33231428 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG01261.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0242a0001c0001t0001g0256a0001c0001t0001g0262others(5): Show | 8 | 268 | 0.0299 | 19 | c.443 others(38): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33435527 | C | CTCTATTG others(12): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(181): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0009a0001c0010others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0045others(181): Show | 184 | 268 | 0.6866 | 19 | c.211 others(40): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33536676 | G | GGCCTTCC others(12): Show |
intron_variant | MODIFIER | HG02602.hp2 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0246a0001c0001t0002g0255 | 2 | 268 | 0.0075 | 19 | c.252 others(38): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33536681 | T | TCCCCCCG others(12): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0194 | 1 | 268 | 0.0037 | 19 | c.252 others(38): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BBS9_chr7_33124564_33611069 | 33565843 | C | CCATATAT others(12): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0171 | 1 | 268 | 0.0037 | 19 | c.252 others(40): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 21/22 | chr7 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107779021 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 | 1 | 222 | 0.0045 | 19 | c.220 others(36): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 13/17 | chr3 | TogoVar | ||||||
BCAS1_chr20_53938541_54075594 | 54041908 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02055.hp1 NA20905.hp2 |
a0001a0013a0030 | a0001c0017a0013c0013a0030c0046 | a0001c0017t0012a0013c0013t0002a0030c0046t0001 | a0001c0017t0012g0207a0013c0013t0002g0155a0030c0046t0001g0286 | 3 | 364 | 0.0082 | 19 | c.143 others(38): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 3/12 | chr20 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 60955386 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01952.hp2 HG03130.hp2 NA20129.hp1 |
a0001a0002 | a0001c0002a0002c0005a0002c0006 | a0001c0002t0002a0002c0005t0001a0002c0006t0002 | a0001c0002t0002g0057a0002c0005t0001g0020a0002c0006t0002g0030 | 3 | 74 | 0.0405 | 19 | c.122 others(38): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61044465 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03209.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001a0001c0002t0002g0068 | 2 | 74 | 0.0270 | 19 | c.202 others(38): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61044465 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02615.hp2 others(3): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0008t0002 | a0001c0002t0001g0059a0001c0002t0001g0063a0001c0002t0001g0065others(3): Show | 6 | 74 | 0.0811 | 19 | c.202 others(38): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61044465 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0064 | 1 | 74 | 0.0135 | 19 | c.202 others(38): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61046014 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG03041.hp1 NA20300.hp1 |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0002 | a0001c0004t0001g0045a0001c0004t0002g0044 | 2 | 74 | 0.0270 | 19 | c.202 others(38): 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(12): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0034 | 1 | 74 | 0.0135 | 19 | c.203 others(40): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61089509 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0065 | 1 | 74 | 0.0135 | 19 | c.242 others(38): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAS3_chr17_60672851_61397831 | 61308152 | T | TGGCCAAG others(12): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02615.hp1 others(14): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0003others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(6): Show | a0001c0002t0001g0056a0001c0002t0001g0059a0001c0002t0001g0061others(14): Show | 17 | 74 | 0.2297 | 19 | c.242 others(40): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCAT1_chr12_24805024_24954101 | 24887061 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0254 | 1 | 322 | 0.0031 | 19 | c.280 others(36): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 3/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24887080 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0115 | a0001c0001t0115g0102 | 1 | 322 | 0.0031 | 19 | c.280 others(36): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 3/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24887080 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0033 | a0001c0001t0011g0271a0001c0001t0033g0272 | 2 | 322 | 0.0062 | 19 | c.280 others(36): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 3/10 | chr12 | TogoVar | ||||||
BCAT1_chr12_24805024_24954101 | 24951590 | C | CAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0287 | 1 | 322 | 0.0031 | 19 | c.-26 others(30): Show |
BCAT1 | ENSG00000060982.15 | transcript | ENST00000261192.12 | protein_coding | 2490 | chr12 | TogoVar | ||||||
BCAT2_chr19_48790064_48816029 | 48811494 | C | CAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 HG03209.hp2 NA18944.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0014a0001c0001t0001g0017others(1): Show | 4 | 408 | 0.0098 | 19 | c.-48 others(28): Show |
BCAT2 | ENSG00000105552.15 | transcript | ENST00000316273.11 | protein_coding | 466 | chr19 | TogoVar | ||||||
BCHE_chr3_165767904_165842423 | 165840290 | A | AGATAGAT others(12): Show |
upstream_gene_variant | MODIFIER | HG01517.hp2 HG01934.hp2 HG02735.hp1 others(1): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0004a0004c0004t0004 | a0002c0002t0004g0002a0002c0002t0004g0003a0002c0002t0004g0034others(1): Show | 4 | 304 | 0.0132 | 19 | c.-29 others(30): Show |
BCHE | ENSG00000114200.10 | transcript | ENST00000264381.8 | protein_coding | 2868 | chr3 | TogoVar | ||||||
BCKDHA_chr19_41392818_41430002 | 41412380 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(60): Show |
a0001a0002a0003 | a0001c0001a0001c0007a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0007t0001others(4): Show | a0001c0001t0001g0007a0001c0001t0001g0023a0001c0001t0001g0024others(49): Show | 63 | 374 | 0.1685 | 19 | c.375 others(36): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BCKDK_chr16_31103386_31117791 | 31117401 | T | TAAATAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 300 | 0.0033 | 19 | c.*51 others(30): Show |
BCKDK | ENSG00000103507.14 | transcript | ENST00000219794.11 | protein_coding | 4611 | chr16 | TogoVar | ||||||
BCL2L10_chr15_52104263_52117775 | 52117102 | A | ATATATAT others(12): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 NA20752.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0076a0002c0002t0003g0086 | 2 | 458 | 0.0044 | 19 | c.-43 others(30): Show |
BCL2L10 | ENSG00000137875.4 | transcript | ENST00000260442.3 | protein_coding | 4328 | chr15 | TogoVar | ||||||
BCL2L11_chr2_111115914_111173444 | 111170699 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 NA18940.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0019 | a0001c0001t0002g0290a0001c0001t0019g0037 | 2 | 398 | 0.0050 | 19 | c.*64 others(30): Show |
BCL2L11 | ENSG00000153094.25 | transcript | ENST00000393256.8 | protein_coding | 2256 | chr2 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17715170 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG00408.hp2 HG03834.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0069 | a0001c0002t0001g0290a0001c0002t0069g0294 | 2 | 306 | 0.0065 | 19 | c.601 others(38): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17715170 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0002 | a0002c0003 | a0002c0003t0058 | a0002c0003t0058g0275 | 1 | 306 | 0.0033 | 19 | c.601 others(38): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17715171 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0265 | 1 | 306 | 0.0033 | 19 | c.601 others(38): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | chr22 | TogoVar | ||||||
BCL2L1_chr20_31659458_31727868 | 31697892 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 186 | 0.0054 | 19 | c.564 others(38): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 2/2 | chr20 | TogoVar | ||||||
BCL6_chr3_187716381_187750468 | 187724874 | G | GCTCCACC others(12): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00741.hp2 HG01106.hp1 others(44): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0001 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0012others(36): Show | 47 | 404 | 0.1163 | 19 | c.197 others(34): Show |
BCL6 | ENSG00000113916.18 | transcript | ENST00000406870.7 | protein_coding | 9/9 | chr3 | TogoVar | ||||||
BCL7B_chr7_73531356_73562690 | 73540829 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 284 | 0.0035 | 19 | c.266 others(34): Show |
BCL7B | ENSG00000106635.8 | transcript | ENST00000223368.7 | protein_coding | 3/5 | chr7 | TogoVar | ||||||
BCL9_chr1_147536501_147631216 | 147540231 | T | TCTCTCTC others(12): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 | a0006 | a0006c0009 | a0006c0009t0005 | a0006c0009t0005g0031 | 1 | 316 | 0.0032 | 19 | c.-19 others(30): Show |
BCL9 | ENSG00000116128.12 | transcript | ENST00000234739.8 | protein_coding | 1269 | chr1 | TogoVar | ||||||
BCO1_chr16_81233689_81296142 | 81246850 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0058 | 1 | 402 | 0.0025 | 19 | c.193 others(36): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 130043784 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0020 | a0001c0020t0001 | a0001c0020t0001g0125 | 1 | 203 | 0.0049 | 19 | c.484 others(38): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BCORL1_chrX_129977635_130063071 | 130043785 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | NA19005.hp1 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0096a0001c0001t0012g0121 | 2 | 203 | 0.0099 | 19 | c.484 others(38): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 11/13 | chrX | TogoVar | ||||||
BCORL1_chrX_129977635_130063071 | 130058089 | G | GTCTCCCG others(12): Show |
downstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 203 | 0.0049 | 19 | c.*19 others(30): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 19 | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40056281 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0145 | 1 | 257 | 0.0039 | 19 | c.459 others(36): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 11/14 | chrX | TogoVar | ||||||
BDH1_chr3_197504783_197560968 | 197510599 | G | GGGTGTGT others(12): Show |
3_prime_UTR_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0084 | a0001c0001t0084g0110 | 1 | 319 | 0.0031 | 19 | c.*12 others(30): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1295 | chr3 | TogoVar | |||||
BDH1_chr3_197504783_197560968 | 197510684 | G | GTGTGTGT others(12): Show |
3_prime_UTR_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0017 | 1 | 319 | 0.0031 | 19 | c.*12 others(30): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1210 | chr3 | TogoVar | |||||
BDKRB2_chr14_96199839_96249164 | 96211697 | G | GCCAGGCA others(12): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 436 | 0.0023 | 19 | c.-40 others(36): Show |
BDKRB2 | ENSG00000168398.7 | transcript | ENST00000554311.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BDKRB2_chr14_96199839_96249164 | 96216733 | A | AAGGAGGA others(12): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02809.hp1 HG02818.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0018others(2): Show | a0001c0001t0001g0078a0001c0001t0004g0076a0001c0001t0018g0017others(3): Show | 7 | 436 | 0.0161 | 19 | c.-40 others(38): Show |
BDKRB2 | ENSG00000168398.7 | transcript | ENST00000554311.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
BDNF_chr11_27649893_27705455 | 27685823 | G | GGAAGTAA others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp1 others(148): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0015others(119): Show | 151 | 360 | 0.4194 | 19 | c.-22 others(38): Show |
BDNF | ENSG00000176697.20 | transcript | ENST00000356660.9 | protein_coding | 1/1 | chr11 | TogoVar | ||||||
BEST3_chr12_69648609_69704303 | 69680310 | C | CTTCTTTT others(12): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG01496.hp2 others(19): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0235a0001c0001t0001g0274a0001c0001t0001g0285others(18): Show | 22 | 366 | 0.0601 | 19 | c.482 others(36): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4/9 | chr12 | TogoVar | ||||||
BEST4_chr1_44778585_44793170 | 44784115 | G | GGAAAAGC others(12): Show |
3_prime_UTR_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0025 | 1 | 390 | 0.0026 | 19 | c.*76 others(26): Show |
BEST4 | ENSG00000142959.5 | transcript | ENST00000372207.4 | protein_coding | 9/9 | 94 | chr1 | TogoVar |