| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BCL9_chr1_147536501_147631216 | 147541177 | AGTGTGT | A | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01433.hp1 HG01884.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0002g0221a0001c0001t0002g0256a0001c0001t0002g0269others(7): Show | 10 | 316 | 0.0317 | -6 | c.-97 others(15): Show |
BCL9 | ENSG00000116128.12 | transcript | ENST00000234739.8 | protein_coding | 323 | chr1 | TogoVar | ||||||
| BCL9_chr1_147536501_147631216 | 147572244 | AAAAAAC | A | intron_variant | MODIFIER | HG00609.hp1 HG01099.hp1 HG01109.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0010a0001c0001t0024others(1): Show | a0001c0001t0002g0002a0001c0001t0002g0021a0001c0001t0002g0268others(4): Show | 12 | 316 | 0.0380 | -6 | c.-47 others(27): Show |
BCL9 | ENSG00000116128.12 | transcript | ENST00000234739.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| BCL9_chr1_147536501_147631216 | 147587756 | CTGTGTG | C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp2 others(94): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0062a0001c0001t0002g0176a0001c0001t0002g0179others(85): Show | 97 | 316 | 0.3070 | -6 | c.-47 others(27): Show |
BCL9 | ENSG00000116128.12 | transcript | ENST00000234739.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| BCLAF1_chr6_136251627_136294846 | 136258381 | GAAAAAC | G | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(276): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(226): Show | 279 | 310 | 0.9000 | -6 | c.*27 others(17): Show |
BCLAF1 | ENSG00000029363.17 | transcript | ENST00000531224.6 | protein_coding | 13/13 | 2723 | chr6 | TogoVar | |||||
| BCLAF1_chr6_136251627_136294846 | 136284130 | GTATATA | G | intron_variant | MODIFIER | HG00558.hp1 HG03831.hp1 NA18964.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0145a0001c0001t0001g0146a0001c0001t0003g0036others(1): Show | 4 | 310 | 0.0129 | -6 | c.-11 others(25): Show |
BCLAF1 | ENSG00000029363.17 | transcript | ENST00000531224.6 | protein_coding | 1/12 | chr6 | TogoVar | ||||||
| BCLAF3_chrX_19907860_19996061 | 19982549 | TCACACA | T | intron_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG01071.hp2 others(62): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(26): Show | a0001c0001t0002g0001a0001c0001t0002g0023a0001c0001t0002g0024others(60): Show | 65 | 207 | 0.3140 | -6 | c.-35 others(23): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 1/11 | chrX | TogoVar | ||||||
| BCLAF3_chrX_19907860_19996061 | 19990402 | CTCGACG | C | intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0089 | 1 | 207 | 0.0048 | -6 | c.-35 others(21): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 1/11 | chrX | TogoVar | ||||||
| BCLAF3_chrX_19907860_19996061 | 19990922 | CCCGCCG | C | 5_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(87): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0001t0011a0001c0001t0019others(12): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0102others(85): Show | 90 | 207 | 0.4348 | -6 | c.-55 others(13): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 1/12 | 20659 | chrX | TogoVar | |||||
| BCLAF3_chrX_19907860_19996061 | 19990968 | CCGCCGG | C | 5_prime_UTR_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0201 | 1 | 207 | 0.0048 | -6 | c.-10 others(14): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 1/12 | 20705 | chrX | TogoVar | |||||
| BCLAF3_chrX_19907860_19996061 | 19994734 | GTATATA | G | upstream_gene_variant | MODIFIER | HG01106.hp1 HG02055.hp1 HG02630.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0020a0001c0001t0021others(1): Show | a0001c0001t0005g0064a0001c0001t0005g0065a0001c0001t0005g0066others(5): Show | 8 | 207 | 0.0387 | -6 | c.-38 others(17): Show |
BCLAF3 | ENSG00000173681.17 | transcript | ENST00000379682.9 | protein_coding | 3674 | chrX | TogoVar | ||||||
| BCO1_chr16_81233689_81296142 | 81235195 | TATATAA | T | upstream_gene_variant | MODIFIER | HG00323.hp2 HG02523.hp1 NA19068.hp2 |
a0001a0003a0011 | a0001c0001a0003c0003a0011c0023 | a0001c0001t0001a0003c0003t0001a0011c0023t0001 | a0001c0001t0001g0209a0003c0003t0001g0202a0011c0023t0001g0174 | 3 | 402 | 0.0075 | -6 | c.-37 others(17): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 3493 | chr16 | TogoVar | ||||||
| BCO1_chr16_81233689_81296142 | 81245849 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(119): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0005a0001c0011others(7): Show | a0001c0002t0001a0001c0002t0002a0001c0005t0001others(8): Show | a0001c0002t0001g0003a0001c0002t0001g0036a0001c0002t0001g0037others(117): Show | 122 | 402 | 0.3035 | -6 | c.193 others(21): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| BCO1_chr16_81233689_81296142 | 81280269 | CAAAAAA | C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01109.hp2 others(15): Show |
a0001a0003a0005 | a0001c0001a0001c0005a0001c0007others(3): Show | a0001c0001t0001a0001c0005t0001a0001c0007t0001others(3): Show | a0001c0001t0001g0263a0001c0005t0001g0131a0001c0007t0001g0201others(13): Show | 18 | 402 | 0.0448 | -6 | c.110 others(23): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| BCO1_chr16_81233689_81296142 | 81292235 | TTTTTTC | T | downstream_gene_variant | MODIFIER | HG02257.hp1 HG02486.hp1 HG02572.hp1 others(8): Show |
a0001a0002a0012 | a0001c0001a0001c0005a0002c0004others(1): Show | a0001c0001t0001a0001c0005t0001a0002c0004t0001others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0040a0001c0001t0001g0041others(7): Show | 11 | 402 | 0.0274 | -6 | c.*16 others(17): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 1094 | chr16 | TogoVar | ||||||
| BCO1_chr16_81233689_81296142 | 81295404 | AAAAAAG | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00558.hp1 others(84): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0157others(82): Show | 87 | 402 | 0.2164 | -6 | c.*48 others(17): Show |
BCO1 | ENSG00000135697.10 | transcript | ENST00000258168.7 | protein_coding | 4263 | chr16 | TogoVar | ||||||
| BCO2_chr11_112170512_112223946 | 112196812 | TTCCTCC | T | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG00597.hp1 others(53): Show |
a0001a0006 | a0001c0001a0001c0008a0006c0012 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(2): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0011others(49): Show | 56 | 380 | 0.1474 | -6 | c.736 others(23): Show |
BCO2 | ENSG00000197580.13 | transcript | ENST00000357685.11 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| BCO2_chr11_112170512_112223946 | 112210756 | GCACACA | G | intron_variant | MODIFIER | HG01884.hp1 HG03516.hp2 HG03579.hp1 |
a0001a0009a0017 | a0001c0001a0009c0010a0017c0021 | a0001c0001t0009a0009c0010t0001a0017c0021t0002 | a0001c0001t0009g0097a0009c0010t0001g0121a0017c0021t0002g0120 | 3 | 380 | 0.0079 | -6 | c.119 others(25): Show |
BCO2 | ENSG00000197580.13 | transcript | ENST00000357685.11 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| BCORL1_chrX_129977635_130063071 | 129982020 | TCCGCTG | T | upstream_gene_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 203 | 0.0049 | -6 | c.-78 others(15): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 614 | chrX | TogoVar | ||||||
| BCORL1_chrX_129977635_130063071 | 130022236 | CTTTTTT | C | intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 203 | 0.0049 | -6 | c.360 others(23): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| BCORL1_chrX_129977635_130063071 | 130043782 | ATATTTT | A | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 203 | 0.0049 | -6 | c.484 others(25): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| BCOR_chrX_40046251_40102958 | 40046594 | ATATATG | A | downstream_gene_variant | MODIFIER | HG00642.hp1 HG03209.hp1 HG03516.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0105a0001c0001t0002g0015a0001c0001t0002g0022others(1): Show | 4 | 257 | 0.0156 | -6 | c.*55 others(17): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4656 | chrX | TogoVar | ||||||
| BCOR_chrX_40046251_40102958 | 40046975 | ATTTTAT | A | downstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 257 | 0.0039 | -6 | c.*51 others(17): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4275 | chrX | TogoVar | ||||||
| BCOR_chrX_40046251_40102958 | 40080815 | CGTGTGT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(76): Show |
a0001a0003a0008others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(10): Show | a0001c0001t0001g0007a0001c0001t0001g0119a0001c0001t0001g0140others(73): Show | 79 | 257 | 0.3074 | -6 | c.-40 others(23): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 1/14 | chrX | TogoVar | ||||||
| BCR_chr22_23175509_23323037 | 23226305 | TGAGAGA | T | intron_variant | MODIFIER | HG00280.hp1 HG01109.hp1 HG02027.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0010others(2): Show | a0001c0001t0062a0001c0001t0063a0001c0004t0174others(4): Show | a0001c0001t0062g0142a0001c0001t0063g0141a0001c0004t0174g0015others(4): Show | 7 | 296 | 0.0237 | -6 | c.128 others(27): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| BCR_chr22_23175509_23323037 | 23226325 | AGAGTGT | A | intron_variant | MODIFIER | HG02257.hp2 HG02723.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0004a0001c0005a0001c0009 | a0001c0004t0109a0001c0005t0026a0001c0005t0107others(1): Show | a0001c0004t0109g0273a0001c0005t0026g0278a0001c0005t0107g0274others(1): Show | 4 | 296 | 0.0135 | -6 | c.128 others(27): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| BCR_chr22_23175509_23323037 | 23240302 | CGTGTGT | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(73): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(20): Show | a0001c0001t0011a0001c0001t0023a0001c0001t0059others(61): Show | a0001c0001t0011g0223a0001c0001t0023g0235a0001c0001t0059g0166others(70): Show | 76 | 296 | 0.2568 | -6 | c.128 others(27): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| BCR_chr22_23175509_23323037 | 23297204 | GTTGTTT | G | intron_variant | MODIFIER | HG03098.hp2 NA19090.hp2 NA20129.hp1 |
a0001 | a0001c0004a0001c0018 | a0001c0004t0210a0001c0018t0044a0001c0018t0048 | a0001c0004t0210g0018a0001c0018t0044g0266a0001c0018t0048g0268 | 3 | 296 | 0.0101 | -6 | c.301 others(25): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| BDH1_chr3_197504783_197560968 | 197510668 | GTGTACA | G | 3_prime_UTR_variant | MODIFIER | HG00738.hp2 HG03688.hp2 NA18980.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0002t0050 | a0001c0001t0014g0245a0001c0001t0014g0266a0001c0001t0014g0267others(1): Show | 4 | 319 | 0.0125 | -6 | c.*12 others(17): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1221 | chr3 | TogoVar | |||||
| BDH1_chr3_197504783_197560968 | 197510684 | GGTGTGT | G | 3_prime_UTR_variant | MODIFIER | HG00642.hp2 HG01243.hp1 HG01256.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0225a0001c0001t0226a0001c0001t0227others(3): Show | a0001c0001t0225g0166a0001c0001t0226g0128a0001c0001t0227g0288others(3): Show | 6 | 319 | 0.0188 | -6 | c.*12 others(17): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1205 | chr3 | TogoVar | |||||
| BDH1_chr3_197504783_197560968 | 197528299 | AGTGAGT | A | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG03669.hp2 |
a0001 | a0001c0002 | a0001c0002t0072a0001c0002t0073a0001c0002t0074 | a0001c0002t0072g0298a0001c0002t0073g0299a0001c0002t0074g0300 | 3 | 319 | 0.0094 | -6 | c.267 others(23): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 5/7 | chr3 | TogoVar | ||||||
| BDKRB2_chr14_96199839_96249164 | 96209997 | AAATAAT | A | intron_variant | MODIFIER | HG00609.hp2 HG02109.hp2 HG03654.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0009 | a0001c0001t0001a0001c0001t0019a0001c0002t0002others(1): Show | a0001c0001t0001g0316a0001c0001t0001g0317a0001c0001t0001g0349others(5): Show | 8 | 436 | 0.0184 | -6 | c.-40 others(23): Show |
BDKRB2 | ENSG00000168398.7 | transcript | ENST00000554311.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| BDKRB2_chr14_96199839_96249164 | 96210016 | AATCATC | A | intron_variant | MODIFIER | HG01346.hp2 HG02071.hp2 HG02486.hp1 others(21): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0001g0232a0001c0001t0005g0023a0001c0001t0005g0081others(20): Show | 24 | 436 | 0.0551 | -6 | c.-40 others(23): Show |
BDKRB2 | ENSG00000168398.7 | transcript | ENST00000554311.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| BDKRB2_chr14_96199839_96249164 | 96213495 | AACACAC | A | intron_variant | MODIFIER | HG00323.hp1 HG02109.hp1 HG02257.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(5): Show | a0001c0001t0003g0369a0001c0001t0004g0341a0001c0001t0007g0106others(5): Show | 8 | 436 | 0.0184 | -6 | c.-40 others(23): Show |
BDKRB2 | ENSG00000168398.7 | transcript | ENST00000554311.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| BDKRB2_chr14_96199839_96249164 | 96216808 | AAGGAGG | A | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00597.hp2 others(47): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0004a0001c0001t0001g0120a0001c0001t0001g0248others(38): Show | 50 | 436 | 0.1147 | -6 | c.-40 others(25): Show |
BDKRB2 | ENSG00000168398.7 | transcript | ENST00000554311.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| BDKRB2_chr14_96199839_96249164 | 96245881 | TTGATGA | T | downstream_gene_variant | MODIFIER | NA18944.hp2 NA19064.hp2 NA19083.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0002t0002 | a0001c0001t0014g0131a0001c0001t0014g0176a0001c0002t0002g0292 | 3 | 436 | 0.0069 | -6 | c.*43 others(17): Show |
BDKRB2 | ENSG00000168398.7 | transcript | ENST00000554311.2 | protein_coding | 1718 | chr14 | TogoVar | ||||||
| BDNF_chr11_27649893_27705455 | 27697160 | CACACAG | C | intron_variant | MODIFIER | HG00408.hp1 HG00735.hp1 HG00741.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0018a0001c0001t0027 | a0001c0001t0005g0004a0001c0001t0005g0012a0001c0001t0005g0047others(14): Show | 27 | 360 | 0.0750 | -6 | c.-22 others(23): Show |
BDNF | ENSG00000176697.20 | transcript | ENST00000356660.9 | protein_coding | 1/1 | chr11 | TogoVar | ||||||
| BDNF_chr11_27649893_27705455 | 27698226 | CAAAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG01123.hp1 HG01175.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(1): Show | a0001c0001t0003g0249a0001c0001t0005g0266a0001c0001t0005g0267others(3): Show | 8 | 360 | 0.0222 | -6 | c.-22 others(23): Show |
BDNF | ENSG00000176697.20 | transcript | ENST00000356660.9 | protein_coding | 1/1 | chr11 | TogoVar | ||||||
| BDP1_chr5_71450651_71572820 | 71451104 | TACACAC | T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00741.hp1 others(49): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0002a0002c0039others(12): Show | a0001c0001t0002a0001c0001t0020a0002c0002t0001others(15): Show | a0001c0001t0002g0035a0001c0001t0002g0037a0001c0001t0002g0039others(49): Show | 52 | 325 | 0.1600 | -6 | c.-47 others(17): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 4546 | chr5 | TogoVar | ||||||
| BDP1_chr5_71450651_71572820 | 71473262 | ATTTTTT | A | intron_variant | MODIFIER | HG01243.hp2 HG01257.hp2 HG02257.hp2 others(6): Show |
a0001a0002a0009others(2): Show | a0001c0001a0002c0002a0009c0008others(2): Show | a0001c0001t0002a0002c0002t0001a0009c0008t0002others(2): Show | a0001c0001t0002g0050a0001c0001t0002g0051a0001c0001t0002g0086others(6): Show | 9 | 325 | 0.0277 | -6 | c.101 others(25): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 7/38 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| BDP1_chr5_71450651_71572820 | 71552834 | GGGGAGA | G | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG02486.hp1 others(2): Show |
a0010 | a0010c0012 | a0010c0012t0003 | a0010c0012t0003g0148a0010c0012t0003g0165a0010c0012t0003g0166others(2): Show | 5 | 325 | 0.0154 | -6 | c.699 others(23): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 34/38 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| BEAN1_chr16_66422295_66487833 | 66453342 | TACACAC | T | intron_variant | MODIFIER | HG02630.hp2 HG02818.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260a0001c0001t0001g0261a0001c0001t0001g0262 | 3 | 298 | 0.0101 | -6 | c.25+ others(23): Show |
BEAN1 | ENSG00000166546.15 | transcript | ENST00000536005.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| BECN2_chr1_241952767_241964062 | 241957045 | GTGTGTA | G | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01099.hp1 others(14): Show |
a0002a0003a0009 | a0002c0002a0003c0003a0009c0007 | a0002c0002t0000a0003c0003t0000a0009c0007t0000 | a0002c0002t0000g0000a0003c0003t0000g0000a0009c0007t0000g0000 | 17 | 444 | 0.0383 | -6 | c.-72 others(15): Show |
BECN2 | ENSG00000196289.7 | transcript | ENST00000419583.2 | protein_coding | 721 | chr1 | TogoVar | ||||||
| BECN2_chr1_241952767_241964062 | 241957051 | ATGTGTG | A | upstream_gene_variant | MODIFIER | HG01261.hp1 HG02040.hp2 HG02083.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 14 | 444 | 0.0315 | -6 | c.-71 others(15): Show |
BECN2 | ENSG00000196289.7 | transcript | ENST00000419583.2 | protein_coding | 715 | chr1 | TogoVar | ||||||
| BEGAIN_chr14_100532147_100592417 | 100546778 | GCGCACA | G | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00558.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0055a0001c0001t0001g0099others(13): Show | 21 | 326 | 0.0644 | -6 | c.72- others(19): Show |
BEGAIN | ENSG00000183092.18 | transcript | ENST00000554140.3 | protein_coding | 2/6 | chr14 | TogoVar | ||||||
| BEGAIN_chr14_100532147_100592417 | 100546780 | GCACACA | G | intron_variant | MODIFIER | HG00099.hp1 HG02135.hp2 NA19010.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0013 | a0001c0001t0001a0001c0002t0001a0001c0013t0001 | a0001c0001t0001g0120a0001c0002t0001g0219a0001c0002t0001g0232others(1): Show | 4 | 326 | 0.0123 | -6 | c.72- others(19): Show |
BEGAIN | ENSG00000183092.18 | transcript | ENST00000554140.3 | protein_coding | 2/6 | chr14 | TogoVar | ||||||
| BEND2_chrX_18157931_18225886 | 18166895 | ATAAAAG | A | intron_variant | MODIFIER | NA18978.hp2 | a0008 | a0008c0008 | a0008c0008t0009 | a0008c0008t0009g0287 | 1 | 295 | 0.0034 | -6 | c.218 others(25): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 13/13 | chrX | TogoVar | ||||||
| BEND2_chrX_18157931_18225886 | 18185533 | AAATAAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(44): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(5): Show | a0001c0001t0001g0075a0001c0001t0001g0076a0001c0001t0001g0123others(44): Show | 47 | 295 | 0.1593 | -6 | c.128 others(25): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 8/13 | chrX | TogoVar | ||||||
| BEND2_chrX_18157931_18225886 | 18190764 | TCTCACA | T | intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0252 | 1 | 295 | 0.0034 | -6 | c.128 others(23): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 8/13 | chrX | TogoVar | ||||||
| BEND2_chrX_18157931_18225886 | 18194972 | AACACAC | A | intron_variant | MODIFIER | HG03098.hp1 HG03516.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0003g0206 | 3 | 295 | 0.0102 | -6 | c.118 others(23): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 7/13 | chrX | TogoVar | ||||||
| BEND2_chrX_18157931_18225886 | 18201412 | AAAAAAC | A | intron_variant | MODIFIER | HG01884.hp2 HG02293.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0014 | 2 | 295 | 0.0068 | -6 | c.103 others(23): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 6/13 | chrX | TogoVar |