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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VTI1A_chr10_112442215_112823744 | 112696094 | T | TTATATAT others(5): Show |
intron_variant | MODIFIER | HG02155.hp1 HG02523.hp1 NA18612.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0091 others(5): Show |
8 | 84 | 0.0952 | 12 | c.560 others(31): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112697865 | C | CGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0087 |
2 | 135 | 0.0148 | 12 | c.560 others(31): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 7/7 | chr10 | TogoVar | |||||||
VTI1A_chr10_112442215_112823744 | 112712474 | T | TCACACAC others(5): Show |
intron_variant | MODIFIER | NA18945.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0082 a0001c0001t0016g0074 |
2 | 45 | 0.0444 | 12 | c.560 others(31): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112736107 | G | GTATATAT others(5): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 133 | 0.0075 | 12 | c.560 others(31): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112736109 | G | GTATATAT others(5): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02965.hp1 HG03225.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012 a0001c0001t0001g0111 a0001c0001t0001g0145 others(3): Show |
6 | 103 | 0.0583 | 12 | c.560 others(31): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112736111 | G | GTATATAT others(5): Show |
intron_variant | MODIFIER | HG00621.hp2 HG03130.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0009 a0001c0001t0001g0160 a0001c0001t0003g0029 others(1): Show |
4 | 59 | 0.0678 | 12 | c.560 others(31): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112736111 | G | GTGTATAT others(5): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03516.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0014 a0001c0001t0001g0078 a0001c0001t0011g0127 |
3 | 58 | 0.0517 | 12 | c.560 others(31): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112757351 | A | ATTTTTTT others(5): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0120 a0001c0001t0011g0127 |
2 | 22 | 0.0909 | 12 | c.561 others(31): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112780273 | A | AAAATAAA others(5): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0156 | 1 | 28 | 0.0357 | 12 | c.561 others(31): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112811712 | A | AAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03098.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0017 | a0001c0001t0004g0006 a0001c0001t0004g0109 a0001c0001t0006g0132 others(1): Show |
4 | 29 | 0.1379 | 12 | c.561 others(29): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 7/7 | chr10 | TogoVar | |||||||
VTI1A_chr10_112442215_112823744 | 112815139 | G | GCACACAC others(5): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03486.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0128 a0001c0001t0007g0052 a0001c0001t0007g0124 |
3 | 34 | 0.0882 | 12 | c.561 others(27): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112815139 | G | GCGCACAC others(5): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03209.hp1 HG03209.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0016 | a0001c0001t0001g0086 a0001c0001t0001g0102 a0001c0001t0001g0107 others(5): Show |
8 | 39 | 0.2051 | 12 | c.561 others(27): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1B_chr14_67642085_67679632 | 67642793 | C | CTTTTTTT others(5): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 HG02976.hp2 HG03139.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0007a0001c0007t0007 | a0001c0001t0007g0038 a0001c0007t0007g0111 |
3 | 35 | 0.0857 | 12 | c.*85 others(23): Show |
VTI1B | ENSG00000100568.11 | transcript | ENST00000554659.6 | protein_coding | 4291 | chr14 | TogoVar | |||||||
VWA1_chr1_1430690_1447882 | 1435945 | C | CCGGGCGG others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(139): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(33): Show |
142 | 274 | 0.5182 | 12 | c.73+ others(25): Show |
VWA1 | ENSG00000179403.12 | transcript | ENST00000476993.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VWA2_chr10_114234254_114299489 | 114271606 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0003 | a0003c0016 | a0003c0016t0003 | a0003c0016t0003g0060 | 1 | 244 | 0.0041 | 12 | c.372 others(29): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VWA2_chr10_114234254_114299489 | 114282017 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02559.hp1 HG02615.hp2 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0007others(2): Show | a0001c0001t0003a0001c0001t0031a0002c0002t0001others(3): Show | a0001c0001t0003g0149 a0001c0001t0031g0144 a0002c0002t0001g0094 others(5): Show |
8 | 74 | 0.1081 | 12 | c.834 others(27): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VWA3A_chr16_22087541_22161964 | 22113363 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02615.hp1 NA18970.hp1 NA18980.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0217 a0002c0002t0001g0209 a0002c0002t0001g0212 others(1): Show |
4 | 71 | 0.0563 | 12 | c.690 others(29): Show |
VWA3A | ENSG00000175267.15 | transcript | ENST00000389398.10 | protein_coding | 8/33 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VWA3A_chr16_22087541_22161964 | 22115832 | G | GGGAAGGA others(5): Show |
intron_variant | MODIFIER | HG01952.hp1 NA19074.hp1 |
a0004a0006 | a0004c0004a0006c0006 | a0004c0004t0001a0006c0006t0001 | a0004c0004t0001g0146 a0006c0006t0001g0030 |
2 | 236 | 0.0085 | 12 | c.815 others(27): Show |
VWA3A | ENSG00000175267.15 | transcript | ENST00000389398.10 | protein_coding | 9/33 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VWA3A_chr16_22087541_22161964 | 22122119 | T | TGATGGAT others(5): Show |
intron_variant | MODIFIER | HG02055.hp1 NA18522.hp2 NA18962.hp2 |
a0001a0017 | a0001c0001a0017c0031 | a0001c0001t0001a0017c0031t0001 | a0001c0001t0001g0104 a0001c0001t0001g0224 a0017c0031t0001g0225 |
3 | 177 | 0.0169 | 12 | c.135 others(29): Show |
VWA3A | ENSG00000175267.15 | transcript | ENST00000389398.10 | protein_coding | 14/33 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VWA3A_chr16_22087541_22161964 | 22134658 | G | GTGTTTGT others(5): Show |
intron_variant | MODIFIER | HG03098.hp1 NA18747.hp1 NA19030.hp1 |
a0002a0011 | a0002c0002a0011c0009 | a0002c0002t0001a0011c0009t0002 | a0002c0002t0001g0202 a0011c0009t0002g0289 a0011c0009t0002g0290 |
3 | 207 | 0.0145 | 12 | c.213 others(29): Show |
VWA3A | ENSG00000175267.15 | transcript | ENST00000389398.10 | protein_coding | 21/33 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VWA3A_chr16_22087541_22161964 | 22154960 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02293.hp1 HG03239.hp2 HG03486.hp1 |
a0002a0008a0021 | a0002c0002a0008c0008a0021c0022 | a0002c0002t0001a0008c0008t0001a0021c0022t0001 | a0002c0002t0001g0087 a0008c0008t0001g0100 a0021c0022t0001g0227 |
3 | 28 | 0.1071 | 12 | c.340 others(29): Show |
VWA3A | ENSG00000175267.15 | transcript | ENST00000389398.10 | protein_coding | 31/33 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VWA3B_chr2_98082167_98318299 | 98092816 | G | GTATATAT others(5): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0225 | 1 | 57 | 0.0175 | 12 | c.-32 others(27): Show |
VWA3B | ENSG00000168658.20 | transcript | ENST00000477737.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWA3B_chr2_98082167_98318299 | 98129224 | A | AGAGAGTG others(5): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01168.hp2 HG01175.hp1 others(11): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(5): Show | a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0132 others(11): Show |
14 | 124 | 0.1129 | 12 | c.872 others(27): Show |
VWA3B | ENSG00000168658.20 | transcript | ENST00000477737.6 | protein_coding | 6/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWA3B_chr2_98082167_98318299 | 98129224 | A | AGTGTGTG others(5): Show |
intron_variant | MODIFIER | NA18939.hp1 NA18962.hp2 NA18977.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0115 a0001c0001t0001g0208 a0002c0002t0002g0105 others(3): Show |
6 | 116 | 0.0517 | 12 | c.872 others(27): Show |
VWA3B | ENSG00000168658.20 | transcript | ENST00000477737.6 | protein_coding | 6/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWA3B_chr2_98082167_98318299 | 98166799 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(61): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(16): Show | a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0101 others(61): Show |
64 | 78 | 0.8205 | 12 | c.111 others(31): Show |
VWA3B | ENSG00000168658.20 | transcript | ENST00000477737.6 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWA3B_chr2_98082167_98318299 | 98179786 | T | TTTTCTTT others(5): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0212 | 1 | 96 | 0.0104 | 12 | c.111 others(31): Show |
VWA3B | ENSG00000168658.20 | transcript | ENST00000477737.6 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWA3B_chr2_98082167_98318299 | 98187658 | C | CTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0003 | 1 | 236 | 0.0042 | 12 | c.131 others(29): Show |
VWA3B | ENSG00000168658.20 | transcript | ENST00000477737.6 | protein_coding | 9/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWA3B_chr2_98082167_98318299 | 98187664 | C | CTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0019 | a0002c0019t0011 | a0002c0019t0011g0228 | 1 | 11 | 0.0909 | 12 | c.131 others(29): Show |
VWA3B | ENSG00000168658.20 | transcript | ENST00000477737.6 | protein_coding | 9/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWA3B_chr2_98082167_98318299 | 98303421 | G | GGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0019 | a0002c0019t0011 | a0002c0019t0011g0228 | 1 | 125 | 0.0080 | 12 | c.342 others(29): Show |
VWA3B | ENSG00000168658.20 | transcript | ENST00000477737.6 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWA5A_chr11_124110450_124152721 | 124114501 | G | GTATATAT others(5): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG02258.hp2 |
a0007 | a0007c0017 | a0007c0017t0008 | a0007c0017t0008g0137 a0007c0017t0008g0138 |
2 | 290 | 0.0069 | 12 | c.-11 others(23): Show |
VWA5A | ENSG00000110002.16 | transcript | ENST00000456829.7 | protein_coding | 948 | chr11 | TogoVar | |||||||
VWA5A_chr11_124110450_124152721 | 124114503 | G | GTATATAT others(5): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG01943.hp2 HG02080.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0039 others(6): Show |
10 | 89 | 0.1124 | 12 | c.-11 others(23): Show |
VWA5A | ENSG00000110002.16 | transcript | ENST00000456829.7 | protein_coding | 946 | chr11 | TogoVar | |||||||
VWA5A_chr11_124110450_124152721 | 124136691 | C | CCCTTCCT others(5): Show |
intron_variant | MODIFIER | HG02602.hp1 NA18982.hp1 NA18995.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0002c0003t0007 | a0001c0002t0002g0170 a0001c0002t0002g0171 a0002c0003t0007g0215 |
3 | 301 | 0.0100 | 12 | c.162 others(27): Show |
VWA5A | ENSG00000110002.16 | transcript | ENST00000456829.7 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
VWA5A_chr11_124110450_124152721 | 124136750 | T | TTCATTCC others(5): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02723.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0010 | a0001c0001t0017a0001c0001t0033a0002c0003t0011others(1): Show | a0001c0001t0017g0028 a0001c0001t0033g0250 a0002c0003t0011g0042 others(3): Show |
6 | 215 | 0.0279 | 12 | c.162 others(27): Show |
VWA5A | ENSG00000110002.16 | transcript | ENST00000456829.7 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
VWA5A_chr11_124110450_124152721 | 124136750 | T | TTCCTTCA others(5): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0242 a0001c0001t0003g0243 |
2 | 211 | 0.0095 | 12 | c.162 others(27): Show |
VWA5A | ENSG00000110002.16 | transcript | ENST00000456829.7 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
VWA5A_chr11_124110450_124152721 | 124139225 | T | TTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02258.hp2 HG02698.hp1 others(1): Show |
a0001a0007 | a0001c0001a0007c0017 | a0001c0001t0003a0007c0017t0008 | a0001c0001t0003g0188 a0001c0001t0003g0239 a0007c0017t0008g0137 others(1): Show |
4 | 136 | 0.0294 | 12 | c.187 others(31): Show |
VWA5A | ENSG00000110002.16 | transcript | ENST00000456829.7 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
VWA5B1_chr1_20285875_20364518 | 20291165 | A | AGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG02129.hp2 NA18906.hp2 NA18943.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0003a0002c0002t0001a0002c0002t0030others(2): Show | a0001c0001t0003g0316 a0002c0002t0001g0310 a0002c0002t0001g0312 others(4): Show |
7 | 137 | 0.0511 | 12 | c.-27 others(25): Show |
VWA5B1 | ENSG00000158816.16 | transcript | ENST00000289815.13 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VWA5B1_chr1_20285875_20364518 | 20291259 | G | GGGGAGGA others(5): Show |
intron_variant | MODIFIER | HG03834.hp1 NA20752.hp1 |
a0003 | a0003c0003 | a0003c0003t0018 | a0003c0003t0018g0256 a0003c0003t0018g0308 |
2 | 326 | 0.0061 | 12 | c.-27 others(27): Show |
VWA5B1 | ENSG00000158816.16 | transcript | ENST00000289815.13 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VWA5B1_chr1_20285875_20364518 | 20291339 | C | CTCTTTCT others(5): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 |
a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0129 a0004c0004t0006g0130 |
2 | 316 | 0.0063 | 12 | c.-27 others(27): Show |
VWA5B1 | ENSG00000158816.16 | transcript | ENST00000289815.13 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VWA5B1_chr1_20285875_20364518 | 20291355 | T | TTCTCTCT others(5): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0003 | a0003c0003 | a0003c0003t0018 | a0003c0003t0018g0308 | 1 | 316 | 0.0032 | 12 | c.-27 others(27): Show |
VWA5B1 | ENSG00000158816.16 | transcript | ENST00000289815.13 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VWA5B1_chr1_20285875_20364518 | 20291359 | T | TTCTCTCT others(5): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00738.hp2 HG01168.hp1 others(21): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0006others(4): Show | a0001c0001t0051a0002c0002t0001a0002c0002t0012others(8): Show | a0001c0001t0051g0023 a0002c0002t0001g0198 a0002c0002t0001g0267 others(21): Show |
24 | 81 | 0.2963 | 12 | c.-27 others(27): Show |
VWA5B1 | ENSG00000158816.16 | transcript | ENST00000289815.13 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VWA5B1_chr1_20285875_20364518 | 20306538 | T | TGAGTACT others(5): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0293 | 1 | 326 | 0.0031 | 12 | c.-26 others(29): Show |
VWA5B1 | ENSG00000158816.16 | transcript | ENST00000289815.13 | protein_coding | 1/21 | chr1 | TogoVar | |||||||
VWA5B1_chr1_20285875_20364518 | 20349371 | T | TTTTATTT others(5): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp1 others(103): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0022a0002c0002others(10): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0009others(22): Show | a0001c0001t0003g0001 a0001c0001t0003g0092 a0001c0001t0003g0093 others(101): Show |
106 | 220 | 0.4818 | 12 | c.287 others(29): Show |
VWA5B1 | ENSG00000158816.16 | transcript | ENST00000289815.13 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VWA5B2_chr3_184224585_184247329 | 184224680 | C | CTTTTTTT others(5): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 HG02109.hp2 HG02717.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0002c0002t0002a0003c0004t0003others(1): Show | a0001c0001t0001g0009 a0002c0002t0002g0006 a0003c0004t0003g0003 others(3): Show |
6 | 188 | 0.0319 | 12 | c.-51 others(23): Show |
VWA5B2 | ENSG00000145198.15 | transcript | ENST00000691901.1 | protein_coding | 4904 | chr3 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41571310 | C | CTCCCGTC others(5): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02129.hp2 HG02135.hp2 others(10): Show |
a0001a0008a0016others(1): Show | a0001c0001a0008c0008a0016c0014others(1): Show | a0001c0001t0001a0008c0008t0001a0016c0014t0001others(1): Show | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0060 others(10): Show |
13 | 241 | 0.0539 | 12 | c.537 others(29): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 43/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41571328 | G | GTCTCCCT others(5): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03486.hp1 |
a0001a0009 | a0001c0001a0009c0025 | a0001c0001t0002a0009c0025t0002 | a0001c0001t0002g0100 a0009c0025t0002g0008 |
2 | 235 | 0.0085 | 12 | c.537 others(29): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 43/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41573484 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0017 | a0017c0020 | a0017c0020t0001 | a0017c0020t0001g0221 | 1 | 217 | 0.0046 | 12 | c.537 others(31): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 43/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41573486 | A | AATAAATA others(5): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02280.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 a0001c0001t0002g0191 a0001c0001t0002g0194 |
3 | 134 | 0.0224 | 12 | c.537 others(31): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 43/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41573486 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | NA18992.hp2 NA18993.hp1 |
a0001a0016 | a0001c0001a0016c0014 | a0001c0001t0001a0016c0014t0001 | a0001c0001t0001g0222 a0016c0014t0001g0040 |
2 | 133 | 0.0150 | 12 | c.537 others(31): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 43/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41617888 | A | ATTGATGG others(5): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01192.hp2 HG01496.hp2 others(12): Show |
a0001a0003a0008 | a0001c0001a0003c0003a0008c0008 | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(2): Show | a0001c0001t0001g0170 a0001c0001t0002g0005 a0001c0001t0002g0006 others(12): Show |
15 | 248 | 0.0605 | 12 | c.461 others(31): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 37/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41758369 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG02109.hp2 HG04228.hp2 |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0006c0007t0001 | a0001c0001t0001g0069 a0006c0007t0001g0138 |
2 | 127 | 0.0157 | 12 | c.242 others(31): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 21/44 | chr13 | TogoVar |