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 | 112618524 | T | TATAGAGA others(13): Show |
intron_variant | MODIFIER | HG03139.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0013 | a0001c0001t0005g0085 a0001c0001t0013g0106 |
2 | 3 | 0.6667 | 20 | c.428 others(39): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112618524 | T | TATATAGA others(13): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0161 | 1 | 2 | 0.5000 | 20 | c.428 others(39): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112618524 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0147 | 1 | 2 | 0.5000 | 20 | c.428 others(39): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112618524 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 2 | 0.5000 | 20 | c.428 others(39): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112733725 | A | ATTATTTT others(13): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0078 a0001c0001t0002g0156 |
2 | 114 | 0.0175 | 20 | c.560 others(39): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VTI1A_chr10_112442215_112823744 | 112733773 | A | ATTTTATT others(13): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02897.hp2 HG02965.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0088 a0001c0001t0001g0102 a0001c0001t0001g0110 others(3): Show |
6 | 114 | 0.0526 | 20 | c.560 others(39): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 7/7 | chr10 | TogoVar | |||||||
VTI1A_chr10_112442215_112823744 | 112736109 | G | GTATGTAT others(13): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0010 | 1 | 98 | 0.0102 | 20 | c.560 others(39): 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(13): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 56 | 0.0179 | 20 | c.560 others(39): 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(13): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 56 | 0.0179 | 20 | c.560 others(39): 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(13): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0010 | 1 | 26 | 0.0385 | 20 | c.561 others(37): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 7/7 | chr10 | TogoVar | |||||||
VWA2_chr10_114234254_114299489 | 114271608 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0006 | a0006c0006 | a0006c0006t0015 | a0006c0006t0015g0049 | 1 | 166 | 0.0060 | 20 | c.372 others(37): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VWA3A_chr16_22087541_22161964 | 22115832 | G | GGGAAGGA others(13): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG02293.hp2 others(9): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0194 a0002c0002t0001g0065 a0003c0003t0001g0045 others(9): Show |
12 | 246 | 0.0488 | 20 | c.815 others(35): Show |
VWA3A | ENSG00000175267.15 | transcript | ENST00000389398.10 | protein_coding | 9/33 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VWA3B_chr2_98082167_98318299 | 98129224 | A | AGAGAGTG others(13): Show |
intron_variant | MODIFIER | HG01168.hp1 HG04184.hp1 NA18942.hp2 others(4): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0005 | a0001c0001t0001a0003c0003t0003a0004c0005t0002 | a0001c0001t0001g0133 a0001c0001t0001g0197 a0003c0003t0003g0076 others(4): Show |
7 | 117 | 0.0598 | 20 | c.872 others(35): 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(13): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02056.hp1 HG02165.hp2 others(4): Show |
a0001a0003a0017others(1): Show | a0001c0001a0003c0003a0003c0017others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(4): Show | a0001c0001t0001g0151 a0001c0001t0003g0236 a0001c0001t0013g0028 others(4): Show |
7 | 21 | 0.3333 | 20 | c.111 others(39): Show |
VWA3B | ENSG00000168658.20 | transcript | ENST00000477737.6 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWA3B_chr2_98082167_98318299 | 98298373 | G | GATTCTAT others(13): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02080.hp1 HG02572.hp1 |
a0002a0003 | a0002c0002a0003c0003a0003c0017 | a0002c0002t0001a0003c0003t0003a0003c0017t0005 | a0002c0002t0001g0089 a0003c0003t0003g0074 a0003c0017t0005g0055 |
3 | 62 | 0.0484 | 20 | c.328 others(37): Show |
VWA3B | ENSG00000168658.20 | transcript | ENST00000477737.6 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWA5B1_chr1_20285875_20364518 | 20291359 | T | TTCTCTCT others(13): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0257 | 1 | 58 | 0.0172 | 20 | c.-27 others(35): Show |
VWA5B1 | ENSG00000158816.16 | transcript | ENST00000289815.13 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VWA5B1_chr1_20285875_20364518 | 20291359 | T | TTCTTTCT others(13): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03453.hp1 HG04204.hp1 others(2): Show |
a0001a0004a0023 | a0001c0001a0004c0004a0023c0031 | a0001c0001t0002a0001c0001t0038a0004c0004t0006others(1): Show | a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0038g0120 others(2): Show |
5 | 62 | 0.0806 | 20 | c.-27 others(35): Show |
VWA5B1 | ENSG00000158816.16 | transcript | ENST00000289815.13 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VWA5B1_chr1_20285875_20364518 | 20291359 | T | TTCTTTCT others(13): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG03453.hp2 others(1): Show |
a0010a0027 | a0010c0010a0027c0028 | a0010c0010t0011a0027c0028t0004 | a0010c0010t0011g0133 a0010c0010t0011g0134 a0010c0010t0011g0136 others(1): Show |
4 | 61 | 0.0656 | 20 | c.-27 others(35): Show |
VWA5B1 | ENSG00000158816.16 | transcript | ENST00000289815.13 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VWA5B1_chr1_20285875_20364518 | 20332479 | C | CAAAATAA others(13): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01928.hp2 HG01978.hp1 others(4): Show |
a0001a0019 | a0001c0001a0001c0017a0019c0033 | a0001c0001t0002a0001c0001t0003a0001c0001t0016others(2): Show | a0001c0001t0002g0165 a0001c0001t0002g0241 a0001c0001t0002g0244 others(4): Show |
7 | 48 | 0.1458 | 20 | c.157 others(37): Show |
VWA5B1 | ENSG00000158816.16 | transcript | ENST00000289815.13 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VWA5B1_chr1_20285875_20364518 | 20349371 | T | TTTTATTT others(13): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0017 | a0001c0017t0005 | a0001c0017t0005g0205 | 1 | 115 | 0.0087 | 20 | c.287 others(37): Show |
VWA5B1 | ENSG00000158816.16 | transcript | ENST00000289815.13 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VWA8_chr13_41561835_41966109 | 41573610 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00438.hp1 others(48): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0018a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(10): Show | a0001c0001t0001g0010 a0001c0001t0001g0061 a0001c0001t0001g0064 others(48): Show |
51 | 180 | 0.2833 | 20 | c.537 others(39): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 43/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41784701 | T | TACATATA others(13): Show |
intron_variant | MODIFIER | NA18952.hp2 NA18960.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 a0001c0001t0001g0215 |
2 | 236 | 0.0085 | 20 | c.217 others(37): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 18/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41784727 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0020 | 1 | 150 | 0.0067 | 20 | c.217 others(37): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 18/44 | chr13 | TogoVar | |||||||
VWA8_chr13_41561835_41966109 | 41784743 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 243 | 0.0041 | 20 | c.217 others(37): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 18/44 | chr13 | TogoVar | |||||||
VWC2L_chr2_214406054_214583976 | 214421885 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG03490.hp2 NA18977.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 a0001c0001t0001g0125 |
2 | 112 | 0.0179 | 20 | c.390 others(37): Show |
VWC2L | ENSG00000174453.10 | transcript | ENST00000312504.10 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWC2L_chr2_214406054_214583976 | 214433159 | G | GATATATA others(13): Show |
intron_variant | MODIFIER | HG01255.hp2 HG03239.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0019 | a0001c0001t0001g0095 a0001c0001t0002g0096 a0001c0001t0019g0118 |
3 | 80 | 0.0375 | 20 | c.391 others(37): Show |
VWC2L | ENSG00000174453.10 | transcript | ENST00000312504.10 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWC2L_chr2_214406054_214583976 | 214467361 | C | CACCAGTA others(13): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02109.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0088 a0001c0001t0001g0139 others(21): Show |
24 | 280 | 0.0857 | 20 | c.520 others(39): Show |
VWC2L | ENSG00000174453.10 | transcript | ENST00000312504.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWC2L_chr2_214406054_214583976 | 214561784 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02486.hp2 HG03130.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0004 | a0001c0001t0001g0176 a0001c0001t0002g0012 a0001c0002t0004g0141 |
3 | 83 | 0.0361 | 20 | c.521 others(39): Show |
VWC2L | ENSG00000174453.10 | transcript | ENST00000312504.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWC2L_chr2_214406054_214583976 | 214561809 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 | 1 | 201 | 0.0050 | 20 | c.521 others(39): Show |
VWC2L | ENSG00000174453.10 | transcript | ENST00000312504.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWC2L_chr2_214406054_214583976 | 214561809 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG01070.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(1): Show | a0001c0001t0002g0143 a0001c0001t0002g0189 a0001c0001t0002g0190 others(6): Show |
9 | 209 | 0.0431 | 20 | c.521 others(39): Show |
VWC2L | ENSG00000174453.10 | transcript | ENST00000312504.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWC2L_chr2_214406054_214583976 | 214563546 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092 | 1 | 3 | 0.3333 | 20 | c.521 others(39): Show |
VWC2L | ENSG00000174453.10 | transcript | ENST00000312504.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWC2_chr7_49768638_49926950 | 49770797 | A | AGGAAGGG others(13): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(141): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0002 a0001c0001t0001g0115 a0001c0001t0001g0121 others(140): Show |
144 | 253 | 0.5692 | 20 | c.-34 others(31): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 2840 | chr7 | TogoVar | |||||||
VWC2_chr7_49768638_49926950 | 49770810 | A | AGGGGAGG others(13): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0180 | 1 | 254 | 0.0039 | 20 | c.-34 others(31): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 2827 | chr7 | TogoVar | |||||||
VWC2_chr7_49768638_49926950 | 49911923 | G | GCACACAC others(13): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01496.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0011 a0002c0002t0003g0023 |
2 | 43 | 0.0465 | 20 | c.827 others(34): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VWF_chr12_5943877_6129670 | 5983401 | G | GGATAGAT others(13): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG01346.hp1 others(6): Show |
a0002a0003a0004others(5): Show | a0002c0001a0003c0003a0004c0004others(6): Show | a0002c0001t0001a0003c0003t0001a0004c0004t0001others(6): Show | a0002c0001t0001g0235 a0003c0003t0001g0169 a0004c0004t0001g0182 others(6): Show |
9 | 46 | 0.1957 | 20 | c.697 others(37): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 40/51 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 5983521 | T | TTAGATAG others(13): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01175.hp1 HG02132.hp1 others(11): Show |
a0002a0004a0005others(7): Show | a0002c0001a0004c0021a0004c0103others(8): Show | a0002c0001t0001a0004c0021t0001a0004c0103t0001others(8): Show | a0002c0001t0001g0261 a0004c0021t0001g0237 a0004c0103t0001g0132 others(11): Show |
14 | 223 | 0.0628 | 20 | c.697 others(37): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 40/51 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 5983794 | G | GAGATAGA others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00544.hp2 others(45): Show |
a0001a0002a0003others(23): Show | a0001c0010a0001c0175a0001c0184others(32): Show | a0001c0010t0001a0001c0175t0001a0001c0184t0001others(32): Show | a0001c0010t0001g0059 a0001c0010t0001g0097 a0001c0175t0001g0223 others(45): Show |
48 | 99 | 0.4848 | 20 | c.697 others(37): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 40/51 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 5983974 | G | GGATAGAT others(13): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0070 | a0070c0074 | a0070c0074t0001 | a0070c0074t0001g0117 | 1 | 182 | 0.0055 | 20 | c.697 others(37): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 40/51 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 6038529 | G | GCGTTCAC others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(209): Show |
a0001a0002a0003others(81): Show | a0001c0006a0001c0007a0001c0010others(133): Show | a0001c0006t0001a0001c0007t0001a0001c0010t0001others(133): Show | a0001c0006t0001g0028 a0001c0006t0001g0113 a0001c0006t0001g0127 others(209): Show |
212 | 255 | 0.8314 | 20 | c.244 others(39): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 18/51 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 6038529 | G | GCGTTCAT others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00642.hp1 others(28): Show |
a0007a0012a0013others(16): Show | a0007c0014a0007c0028a0007c0132others(20): Show | a0007c0014t0001a0007c0028t0001a0007c0132t0001others(20): Show | a0007c0014t0001g0099 a0007c0014t0001g0101 a0007c0014t0001g0218 others(28): Show |
31 | 74 | 0.4189 | 20 | c.244 others(39): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 18/51 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 6055761 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG02129.hp1 NA18942.hp1 |
a0001 | a0001c0010a0001c0174 | a0001c0010t0001a0001c0174t0001 | a0001c0010t0001g0249 a0001c0174t0001g0124 |
2 | 20 | 0.1000 | 20 | c.194 others(39): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 15/51 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 6092614 | T | TGAGTGAG others(13): Show |
intron_variant | MODIFIER | HG02683.hp2 HG03098.hp2 |
a0002a0028 | a0002c0012a0028c0038 | a0002c0012t0001a0028c0038t0001 | a0002c0012t0001g0212 a0028c0038t0001g0079 |
2 | 167 | 0.0120 | 20 | c.657 others(37): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 6/51 | chr12 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 6092618 | A | AGAGTGTG others(13): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0010 | a0010c0037 | a0010c0037t0001 | a0010c0037t0001g0119 | 1 | 189 | 0.0053 | 20 | c.657 others(37): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 6/51 | chr12 | TogoVar | |||||||
WAC_chr10_28528118_28628112 | 28559136 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01257.hp2 HG01261.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0067 a0001c0001t0001g0110 a0001c0001t0001g0170 others(3): Show |
6 | 38 | 0.1579 | 20 | c.274 others(39): Show |
WAC | ENSG00000095787.26 | transcript | ENST00000354911.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
WAPL_chr10_86430256_86526792 | 86505300 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0320 | 1 | 155 | 0.0065 | 20 | c.500 others(37): Show |
WAPL | ENSG00000062650.20 | transcript | ENST00000298767.10 | protein_coding | 2/18 | chr10 | TogoVar | |||||||
WARS1_chr14_100328790_100380347 | 100371447 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 116 | 0.0086 | 20 | c.-73 others(37): Show |
WARS1 | ENSG00000140105.18 | transcript | ENST00000392882.7 | protein_coding | 1/10 | chr14 | TogoVar | |||||||
WARS2_chr1_119026216_119145653 | 119088435 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | NA18939.hp2 NA18978.hp1 NA18992.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0120 a0002c0002t0002g0131 a0002c0002t0002g0135 others(1): Show |
4 | 75 | 0.0533 | 20 | c.91- others(37): Show |
WARS2 | ENSG00000116874.12 | transcript | ENST00000235521.5 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
WARS2_chr1_119026216_119145653 | 119093474 | A | ATACTAGA others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp1 others(299): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(283): Show |
302 | 352 | 0.8580 | 20 | c.91- others(37): Show |
WARS2 | ENSG00000116874.12 | transcript | ENST00000235521.5 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
WARS2_chr1_119026216_119145653 | 119135747 | T | TAGATAGA others(13): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0195 | 1 | 322 | 0.0031 | 20 | c.90+ others(35): Show |
WARS2 | ENSG00000116874.12 | transcript | ENST00000235521.5 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
WASF1_chr6_110094819_110184670 | 110124274 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0178 | 1 | 103 | 0.0097 | 20 | c.133 others(37): Show |
WASF1 | ENSG00000112290.13 | transcript | ENST00000392589.6 | protein_coding | 4/10 | chr6 | TogoVar |