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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCO2_chr11_112170512_112223946 | 112182842 | T | TAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(77): Show |
a0001a0010a0016 | a0001c0001a0010c0023a0016c0014 | a0001c0001t0001a0001c0001t0006a0010c0023t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0023 others(75): Show |
80 | 378 | 0.2116 | 5 | c.293 others(22): Show |
BCO2 | ENSG00000197580.13 | transcript | ENST00000357685.11 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BCO2_chr11_112170512_112223946 | 112196915 | T | TCCTTC | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00639.hp2 others(51): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0003a0004c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0009 others(48): Show |
54 | 203 | 0.2660 | 5 | c.736 others(22): Show |
BCO2 | ENSG00000197580.13 | transcript | ENST00000357685.11 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BCORL1_chrX_129977635_130063071 | 130003374 | C | CTTCTT | intron_variant | MODIFIER | HG01081.hp1 HG01496.hp2 HG02257.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006 | a0001c0002t0002g0030 a0001c0002t0002g0052 a0001c0002t0002g0097 others(6): Show |
9 | 177 | 0.0508 | 5 | c.-44 others(22): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
BCORL1_chrX_129977635_130063071 | 130004241 | G | GTTTTT | intron_variant | MODIFIER | HG01081.hp1 HG01496.hp2 HG02257.hp1 others(4): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0002t0006a0001c0005t0006 | a0001c0002t0002g0052 a0001c0002t0002g0097 a0001c0002t0002g0138 others(4): Show |
7 | 166 | 0.0422 | 5 | c.-44 others(20): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
BCORL1_chrX_129977635_130063071 | 130043785 | T | TATATA | intron_variant | MODIFIER | HG03098.hp1 HG03492.hp1 HG03579.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0024 a0001c0001t0001g0075 a0001c0001t0001g0140 others(4): Show |
7 | 152 | 0.0461 | 5 | c.484 others(24): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 11/13 | chrX | TogoVar | |||||||
BCOR_chrX_40046251_40102958 | 40090553 | G | GCTCCA | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 3 | 255 | 0.0118 | 5 | c.-41 others(22): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 1/14 | chrX | TogoVar | |||||||
BCR_chr22_23175509_23323037 | 23211655 | T | TTTTTG | intron_variant | MODIFIER | HG00673.hp1 HG01167.hp2 HG01169.hp2 others(14): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0122a0001c0001t0177a0001c0001t0198others(11): Show | a0001c0001t0122g0124 a0001c0001t0177g0276 a0001c0001t0198g0259 others(14): Show |
17 | 290 | 0.0586 | 5 | c.127 others(26): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCR_chr22_23175509_23323037 | 23231506 | C | CATAAA | intron_variant | MODIFIER | HG00438.hp2 HG00738.hp2 HG00741.hp1 others(36): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(13): Show | a0001c0001t0008a0001c0001t0012a0001c0001t0026others(31): Show | a0001c0001t0008g0125 a0001c0001t0012g0108 a0001c0001t0012g0118 others(35): Show |
39 | 82 | 0.4756 | 5 | c.128 others(26): Show |
BCR | ENSG00000186716.21 | transcript | ENST00000305877.13 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BDH1_chr3_197504783_197560968 | 197510684 | G | GTGTGT | 3_prime_UTR_variant | MODIFIER | HG01975.hp2 HG01993.hp1 HG02080.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015a0001c0001t0022others(2): Show | a0001c0001t0002g0050 a0001c0001t0002g0166 a0001c0001t0015g0103 others(4): Show |
7 | 192 | 0.0365 | 5 | c.*12 others(16): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1210 | chr3 | TogoVar | ||||||
BDH2_chr4_103072592_103104834 | 103102346 | T | TATATA | upstream_gene_variant | MODIFIER | HG01099.hp2 HG02293.hp2 HG03669.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0005 | a0002c0002t0003g0012 a0002c0002t0003g0076 a0002c0002t0003g0087 others(2): Show |
6 | 347 | 0.0173 | 5 | c.-25 others(16): Show |
BDH2 | ENSG00000164039.15 | transcript | ENST00000296424.9 | protein_coding | 2513 | chr4 | TogoVar | |||||||
BDH2_chr4_103072592_103104834 | 103104007 | G | GTTTTT | upstream_gene_variant | MODIFIER | HG01175.hp1 HG01243.hp2 HG02258.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0009t0018others(1): Show | a0001c0001t0001g0106 a0001c0001t0002g0013 a0001c0009t0018g0105 others(1): Show |
7 | 201 | 0.0348 | 5 | c.-42 others(16): Show |
BDH2 | ENSG00000164039.15 | transcript | ENST00000296424.9 | protein_coding | 4174 | chr4 | TogoVar | |||||||
BDKRB1_chr14_96251210_96269763 | 96265206 | G | GTTTGC | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00639.hp1 others(46): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 others(17): Show |
49 | 438 | 0.1119 | 5 | c.*46 others(14): Show |
BDKRB1 | ENSG00000100739.11 | transcript | ENST00000216629.11 | protein_coding | 444 | chr14 | TogoVar | |||||||
BDP1_chr5_71450651_71572820 | 71496438 | A | ATTTTT | intron_variant | MODIFIER | HG00621.hp2 HG01109.hp2 HG01261.hp2 others(9): Show |
a0001a0006a0007 | a0001c0001a0006c0007a0007c0006 | a0001c0001t0002a0001c0001t0019a0006c0007t0002others(1): Show | a0001c0001t0002g0015 a0001c0001t0002g0053 a0001c0001t0002g0085 others(9): Show |
12 | 87 | 0.1379 | 5 | c.180 others(22): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 12/38 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BDP1_chr5_71450651_71572820 | 71544904 | A | AAAAAG | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG00735.hp2 others(22): Show |
a0001a0007a0008 | a0001c0001a0007c0006a0008c0009 | a0001c0001t0002a0001c0001t0011a0001c0001t0019others(3): Show | a0001c0001t0002g0024 a0001c0001t0002g0035 a0001c0001t0002g0040 others(22): Show |
25 | 213 | 0.1174 | 5 | c.656 others(22): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 31/38 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BDP1_chr5_71450651_71572820 | 71557375 | A | ATTTTT | intron_variant | MODIFIER | HG02258.hp1 HG02896.hp2 HG02965.hp2 others(5): Show |
a0006a0027a0040 | a0006c0007a0006c0024a0006c0028others(2): Show | a0006c0007t0002a0006c0024t0002a0006c0028t0021others(2): Show | a0006c0007t0002g0108 a0006c0007t0002g0110 a0006c0007t0002g0111 others(5): Show |
8 | 64 | 0.1250 | 5 | c.724 others(22): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 36/38 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BEND2_chrX_18157931_18225886 | 18193329 | A | AAAAAG | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00639.hp1 others(60): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0022 others(57): Show |
63 | 191 | 0.3298 | 5 | c.118 others(24): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 7/13 | chrX | TogoVar | |||||||
BEND2_chrX_18157931_18225886 | 18219905 | G | GAAAAC | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(84): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0008a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0008t0001others(10): Show | a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0202 others(82): Show |
87 | 287 | 0.3031 | 5 | c.25+ others(18): Show |
BEND2 | ENSG00000177324.14 | transcript | ENST00000380033.9 | protein_coding | 1/13 | chrX | TogoVar | |||||||
BEND3_chr6_107060182_107120515 | 107109442 | C | CAAAAA | intron_variant | MODIFIER | HG02056.hp2 NA18962.hp1 NA18974.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006a0001c0002t0014others(1): Show | a0001c0002t0001g0071 a0001c0002t0006g0075 a0001c0002t0006g0111 others(3): Show |
6 | 30 | 0.2000 | 5 | c.-12 others(22): Show |
BEND3 | ENSG00000178409.14 | transcript | ENST00000369042.6 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
BEND4_chr4_42105853_42157655 | 42123694 | G | GAAAAA | intron_variant | MODIFIER | HG02886.hp1 HG03041.hp2 HG03471.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0015 | a0001c0001t0007g0014 a0001c0001t0007g0047 a0001c0001t0015g0094 others(1): Show |
5 | 181 | 0.0276 | 5 | c.114 others(24): Show |
BEND4 | ENSG00000188848.17 | transcript | ENST00000502486.6 | protein_coding | 4/5 | chr4 | TogoVar | |||||||
BEND5_chr1_48722519_48781891 | 48769570 | C | CACACA | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG01884.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0033 a0001c0002t0001g0035 a0001c0002t0001g0036 others(5): Show |
8 | 297 | 0.0269 | 5 | c.226 others(22): Show |
BEND5 | ENSG00000162373.13 | transcript | ENST00000371833.4 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
BEND6_chr6_56950107_57032346 | 56975286 | A | ATCACT | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00597.hp1 others(64): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0014 others(53): Show |
67 | 202 | 0.3317 | 5 | c.-10 others(24): Show |
BEND6 | ENSG00000151917.18 | transcript | ENST00000370746.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BEND6_chr6_56950107_57032346 | 56978280 | C | CTAAAA | intron_variant | MODIFIER | HG02451.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 a0001c0001t0001g0121 |
2 | 202 | 0.0099 | 5 | c.-10 others(24): Show |
BEND6 | ENSG00000151917.18 | transcript | ENST00000370746.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BEND6_chr6_56950107_57032346 | 57028705 | A | AAAAAG | downstream_gene_variant | MODIFIER | HG02132.hp1 HG02723.hp2 HG02818.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 others(11): Show |
15 | 17 | 0.8824 | 5 | c.*26 others(16): Show |
BEND6 | ENSG00000151917.18 | transcript | ENST00000370746.8 | protein_coding | 1360 | chr6 | TogoVar | |||||||
BEND7_chr10_13436088_13534014 | 13447148 | T | TGCAGA | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG00741.hp2 others(73): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(66): Show |
76 | 298 | 0.2550 | 5 | c.123 others(22): Show |
BEND7 | ENSG00000165626.19 | transcript | ENST00000466271.3 | protein_coding | 8/8 | chr10 | TogoVar | |||||||
BEND7_chr10_13436088_13534014 | 13499724 | T | TAAAAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(172): Show |
a0001a0004a0005 | a0001c0001a0001c0004a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(157): Show |
175 | 298 | 0.5872 | 5 | c.448 others(18): Show |
BEND7 | ENSG00000165626.19 | transcript | ENST00000466271.3 | protein_coding | 3/8 | chr10 | TogoVar | |||||||
BEST3_chr12_69648609_69704303 | 69670764 | T | TTTTTG | intron_variant | MODIFIER | HG00639.hp1 HG02486.hp1 HG02559.hp1 others(12): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0001a0001c0004t0001a0001c0006t0006 | a0001c0001t0001g0005 a0001c0001t0001g0097 a0001c0001t0001g0098 others(9): Show |
15 | 364 | 0.0412 | 5 | c.110 others(22): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 9/9 | chr12 | TogoVar | |||||||
BEST3_chr12_69648609_69704303 | 69680310 | C | CTTCTT | intron_variant | MODIFIER | HG01884.hp2 HG02559.hp2 HG02630.hp2 others(4): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0002g0280 a0001c0001t0003g0187 a0001c0001t0007g0236 others(4): Show |
7 | 137 | 0.0511 | 5 | c.482 others(22): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4/9 | chr12 | TogoVar | |||||||
BEST3_chr12_69648609_69704303 | 69680311 | T | TTCTTC | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp2 others(112): Show |
a0001a0006a0008 | a0001c0001a0001c0010a0006c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(92): Show |
115 | 363 | 0.3168 | 5 | c.482 others(22): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4/9 | chr12 | TogoVar | |||||||
BEST3_chr12_69648609_69704303 | 69682081 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(120): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0011 a0001c0001t0001g0032 a0001c0001t0001g0198 others(108): Show |
123 | 188 | 0.6543 | 5 | c.482 others(22): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4/9 | chr12 | TogoVar | |||||||
BEST3_chr12_69648609_69704303 | 69684981 | G | GTTCTA | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00438.hp1 others(69): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0010a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 others(62): Show |
72 | 214 | 0.3364 | 5 | c.482 others(22): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4/9 | chr12 | TogoVar | |||||||
BEST3_chr12_69648609_69704303 | 69686185 | G | GAAAAA | intron_variant | MODIFIER | HG01081.hp1 HG01109.hp2 HG01978.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0031 a0001c0001t0003g0185 a0001c0001t0003g0186 others(7): Show |
11 | 244 | 0.0451 | 5 | c.482 others(22): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4/9 | chr12 | TogoVar | |||||||
BFSP1_chr20_17488905_17536379 | 17509146 | A | AGGTGG | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp1 others(114): Show |
a0001a0002a0004others(3): Show | a0001c0002a0001c0003a0001c0004others(7): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(9): Show | a0001c0002t0001g0032 a0001c0002t0001g0061 a0001c0002t0001g0062 others(109): Show |
117 | 394 | 0.2970 | 5 | c.628 others(20): Show |
BFSP1 | ENSG00000125864.14 | transcript | ENST00000377873.8 | protein_coding | 4/7 | chr20 | TogoVar | |||||||
BFSP2_chr3_133395056_133480208 | 133422105 | C | CAAAAA | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02280.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(20): Show |
23 | 50 | 0.4600 | 5 | c.489 others(24): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133424222 | T | TGTGTG | intron_variant | MODIFIER | HG04184.hp2 NA18964.hp2 NA18995.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0228 a0001c0002t0001g0120 a0001c0002t0001g0223 |
3 | 84 | 0.0357 | 5 | c.490 others(24): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
BFSP2_chr3_133395056_133480208 | 133436325 | C | CAAAAA | intron_variant | MODIFIER | HG01123.hp2 HG02145.hp1 HG02559.hp2 others(6): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0009 | a0001c0001t0001a0001c0002t0001a0006c0009t0001 | a0001c0001t0001g0032 a0001c0001t0001g0163 a0001c0001t0001g0164 others(6): Show |
9 | 158 | 0.0570 | 5 | c.490 others(24): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BHLHE40_chr3_4974437_4990323 | 4988355 | T | TGCGGG | downstream_gene_variant | MODIFIER | HG00423.hp1 HG01074.hp2 HG01168.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(12): Show |
35 | 256 | 0.1367 | 5 | c.*46 others(16): Show |
BHLHE40 | ENSG00000134107.5 | transcript | ENST00000256495.4 | protein_coding | 3033 | chr3 | TogoVar | |||||||
BHLHE41_chr12_26115030_26130037 | 26121063 | T | TTTTTG | 3_prime_UTR_variant | MODIFIER | HG00544.hp2 NA18999.hp2 NA19002.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0008a0002c0002t0001 | a0001c0001t0001g0003 a0001c0001t0008g0017 a0002c0002t0001g0001 |
5 | 420 | 0.0119 | 5 | c.*99 others(15): Show |
BHLHE41 | ENSG00000123095.6 | transcript | ENST00000242728.5 | protein_coding | 5/5 | 1002 | chr12 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79128528 | T | TAAAAA | intron_variant | MODIFIER | HG02572.hp1 HG04115.hp1 NA18945.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 a0001c0001t0001g0201 a0001c0001t0001g0202 others(3): Show |
6 | 156 | 0.0385 | 5 | c.103 others(22): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | chr5 | TogoVar | |||||||
BICC1_chr10_58507872_58836435 | 58542169 | A | ACAAAC | intron_variant | MODIFIER | HG00735.hp1 HG02109.hp2 HG02258.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0039a0001c0001t0041a0002c0002t0013others(5): Show | a0001c0001t0039g0126 a0001c0001t0041g0130 a0002c0002t0013g0127 others(8): Show |
11 | 129 | 0.0853 | 5 | c.190 others(24): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | chr10 | TogoVar | |||||||
BICC1_chr10_58507872_58836435 | 58555306 | A | ATTTTT | intron_variant | MODIFIER | HG01358.hp1 HG01515.hp2 HG01517.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0003 a0001c0001t0003g0006 a0001c0001t0003g0007 others(2): Show |
5 | 46 | 0.1087 | 5 | c.190 others(24): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58621903 | T | TTAGAA | intron_variant | MODIFIER | HG01167.hp1 HG02040.hp2 HG02155.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0007a0001c0001t0011a0001c0001t0027others(5): Show | a0001c0001t0007g0080 a0001c0001t0011g0077 a0001c0001t0027g0038 others(5): Show |
8 | 109 | 0.0734 | 5 | c.237 others(22): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58708002 | A | ATTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01081.hp2 others(6): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0003a0001c0001t0007a0001c0001t0012others(5): Show | a0001c0001t0003g0049 a0001c0001t0003g0059 a0001c0001t0007g0095 others(6): Show |
9 | 11 | 0.8182 | 5 | c.307 others(22): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32105400 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG00741.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(11): Show | a0001c0001t0001g0255 a0001c0001t0004g0019 a0001c0001t0004g0032 others(20): Show |
23 | 72 | 0.3194 | 5 | c.-19 others(16): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1446 | chr12 | TogoVar | |||||||
BICD1_chr12_32101847_32388633 | 32115386 | G | GTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG01106.hp2 HG01243.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0001g0194 a0001c0001t0001g0206 a0001c0001t0003g0237 others(23): Show |
26 | 230 | 0.1130 | 5 | c.213 others(22): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
BICD1_chr12_32101847_32388633 | 32118060 | A | ATATTT | intron_variant | MODIFIER | HG01358.hp2 HG02723.hp1 HG03139.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0032a0001c0001t0047others(2): Show | a0001c0001t0003g0246 a0001c0001t0032g0033 a0001c0001t0047g0247 others(2): Show |
5 | 129 | 0.0388 | 5 | c.213 others(24): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32119869 | T | TCAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(179): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0174 a0001c0001t0001g0181 a0001c0001t0001g0182 others(179): Show |
182 | 288 | 0.6319 | 5 | c.213 others(24): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32149263 | T | TGAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(236): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(68): Show | a0001c0001t0001g0058 a0001c0001t0001g0174 a0001c0001t0001g0181 others(236): Show |
239 | 288 | 0.8299 | 5 | c.213 others(24): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32157205 | A | ATTATT | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01192.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0255 a0001c0001t0004g0151 a0001c0001t0004g0287 others(13): Show |
16 | 288 | 0.0556 | 5 | c.213 others(24): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32165513 | C | CACAAA | intron_variant | MODIFIER | HG03195.hp2 HG03453.hp1 HG06807.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0015a0001c0001t0016a0001c0002t0005others(1): Show | a0001c0001t0015g0042 a0001c0001t0016g0041 a0001c0002t0005g0290 others(1): Show |
4 | 288 | 0.0139 | 5 | c.214 others(24): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32215953 | C | CAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG01109.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0038 a0001c0001t0001g0194 a0001c0001t0001g0263 others(22): Show |
25 | 133 | 0.1880 | 5 | c.214 others(20): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |