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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VEPH1_chr3_157254742_157508416 | 157369180 | G | GAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03471.hp1 NA18970.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0001c0001t0002a0004c0007t0001 | a0001c0001t0001g0243a0001c0001t0002g0209a0004c0007t0001g0284others(2): Show | 5 | 304 | 0.0165 | 23 | c.112 others(42): Show |
VEPH1 | ENSG00000197415.12 | transcript | ENST00000362010.7 | protein_coding | 7/13 | chr3 | TogoVar | ||||||
VGLL2_chr6_117260558_117278565 | 117273683 | T | TTAGATAG others(16): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG01243.hp1 HG01256.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0012a0001c0002t0002 | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0021others(5): Show | 17 | 432 | 0.0394 | 23 | c.*11 others(34): Show |
VGLL2 | ENSG00000170162.14 | transcript | ENST00000326274.6 | protein_coding | 119 | chr6 | TogoVar | ||||||
VHLL_chr1_156293624_156304307 | 156296579 | A | AAATATAT others(16): Show |
downstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 388 | 0.0026 | 23 | c.*21 others(34): Show |
VHLL | ENSG00000189030.10 | transcript | ENST00000339922.5 | protein_coding | 2044 | chr1 | TogoVar | ||||||
VIPR1_chr3_42497643_42542568 | 42522101 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0046 | 1 | 412 | 0.0024 | 23 | c.292 others(40): Show |
VIPR1 | ENSG00000114812.13 | transcript | ENST00000325123.5 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
VMAC_chr19_5899872_5915853 | 5907610 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00609.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0054a0001c0001t0001g0068others(8): Show | 41 | 386 | 0.1062 | 23 | c.192 others(40): Show |
VMAC | ENSG00000187650.4 | transcript | ENST00000339485.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
VMP1_chr17_59702654_59847255 | 59772950 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02896.hp2 NA18987.hp1 NA19080.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0122a0001c0001t0003g0142a0001c0001t0003g0259others(1): Show | 4 | 286 | 0.0140 | 23 | c.583 others(38): Show |
VMP1 | ENSG00000062716.13 | transcript | ENST00000262291.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
VN1R1_chr19_57449790_57462140 | 57457969 | T | TGTGTGTG others(16): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 NA20905.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0000a0002c0002t0001g0000 | 2 | 430 | 0.0047 | 23 | c.-14 others(34): Show |
VN1R1 | ENSG00000178201.5 | transcript | ENST00000321039.5 | protein_coding | 830 | chr19 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77411660 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0240 | 1 | 348 | 0.0029 | 23 | c.947 others(42): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 71/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
VPS13B_chr8_99008274_99882580 | 99035093 | C | CTGAGGTG others(16): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00741.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0002g0073a0001c0001t0002g0074a0001c0002t0001g0047others(2): Show | 5 | 134 | 0.0373 | 23 | c.148 others(40): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 2/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
VPS13B_chr8_99008274_99882580 | 99326452 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0010 | a0001c0010t0005 | a0001c0010t0005g0051 | 1 | 134 | 0.0075 | 23 | c.282 others(44): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
VPS13B_chr8_99008274_99882580 | 99640049 | G | GAAGAAGA others(16): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0132 | 1 | 134 | 0.0075 | 23 | c.522 others(42): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 33/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
VPS13B_chr8_99008274_99882580 | 99832341 | A | ATTTTTTT others(16): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG01515.hp2 HG03195.hp1 NA18992.hp1 |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0008 | a0002c0003t0003g0062a0002c0003t0003g0107a0002c0003t0008g0036 | 3 | 134 | 0.0224 | 23 | c.933 others(37): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 51/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
VPS13C_chr15_61847389_62065447 | 61923861 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02258.hp2 NA20300.hp2 |
a0010 | a0010c0011 | a0010c0011t0014a0010c0011t0028 | a0010c0011t0014g0189a0010c0011t0028g0344 | 2 | 352 | 0.0057 | 23 | c.661 others(42): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 53/84 | chr15 | TogoVar | ||||||
VPS16_chr20_2835745_2871732 | 2836440 | G | GCCCTCTA others(16): Show |
upstream_gene_variant | MODIFIER | NA18945.hp1 NA18984.hp1 NA19011.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171a0001c0001t0001g0172a0001c0001t0001g0173others(1): Show | 4 | 408 | 0.0098 | 23 | c.-43 others(34): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 4304 | chr20 | TogoVar | ||||||
VPS26A_chr10_69119178_69179412 | 69151282 | A | AAAAACAA others(16): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02630.hp2 HG02970.hp2 |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0027 | a0001c0002t0008g0029a0001c0002t0008g0031a0001c0002t0027g0026 | 3 | 336 | 0.0089 | 23 | c.154 others(40): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
VPS26C_chr21_37218422_37272334 | 37255851 | A | ATTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0256 | 1 | 396 | 0.0025 | 23 | c.57+ others(40): Show |
VPS26C | ENSG00000157538.14 | transcript | ENST00000309117.11 | protein_coding | 1/7 | chr21 | TogoVar | ||||||
VPS33B_chr15_90993673_91027594 | 91026979 | C | CTTTTTTT others(16): Show |
upstream_gene_variant | MODIFIER | HG01496.hp1 HG02055.hp1 HG02818.hp1 others(5): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0027a0001c0001t0001g0050a0001c0001t0001g0092others(5): Show | 8 | 374 | 0.0214 | 23 | c.-47 others(34): Show |
VPS33B | ENSG00000184056.15 | transcript | ENST00000333371.8 | protein_coding | 4386 | chr15 | TogoVar | ||||||
VPS35_chr16_46651132_46694178 | 46663862 | A | ATTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0032 | 1 | 220 | 0.0046 | 23 | c.164 others(40): Show |
VPS35 | ENSG00000069329.19 | transcript | ENST00000299138.12 | protein_coding | 13/16 | chr16 | TogoVar | ||||||
VPS37A_chr8_17241958_17303024 | 17243703 | A | AGAATTGC others(16): Show |
upstream_gene_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0056 | 1 | 384 | 0.0026 | 23 | c.-35 others(34): Show |
VPS37A | ENSG00000155975.10 | transcript | ENST00000324849.9 | protein_coding | 3254 | chr8 | TogoVar | ||||||
VPS41_chr7_38717974_38914191 | 38723723 | C | CAAAAAAA others(16): Show |
3_prime_UTR_variant | MODIFIER | HG02622.hp2 HG03490.hp2 |
a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0152a0001c0001t0030g0207 | 2 | 278 | 0.0072 | 23 | c.*25 others(34): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 29/29 | 2522 | chr7 | TogoVar | |||||
VPS41_chr7_38717974_38914191 | 38744776 | G | GAGCACCC others(16): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0254 | 1 | 278 | 0.0036 | 23 | c.198 others(40): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 23/28 | chr7 | TogoVar | ||||||
VPS4A_chr16_69306350_69331939 | 69310070 | G | GTTTTTTT others(16): Show |
upstream_gene_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 366 | 0.0027 | 23 | c.-14 others(34): Show |
VPS4A | ENSG00000132612.16 | transcript | ENST00000254950.13 | protein_coding | 1279 | chr16 | TogoVar | ||||||
VPS4A_chr16_69306350_69331939 | 69311944 | T | TCACTTCG others(16): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 366 | 0.0027 | 23 | c.21+ others(36): Show |
VPS4A | ENSG00000132612.16 | transcript | ENST00000254950.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
VPS53_chr17_503668_719839 | 547636 | C | CTAAAAAT others(16): Show |
intron_variant | MODIFIER | NA18950.hp1 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0094 | a0001c0001t0015g0131a0001c0001t0094g0129 | 2 | 232 | 0.0086 | 23 | c.186 others(42): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 17/21 | chr17 | TogoVar | ||||||
VPS53_chr17_503668_719839 | 571523 | T | TCTCCCTA others(16): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(39): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(21): Show | a0001c0002t0001g0045a0001c0002t0001g0056a0001c0002t0001g0066others(39): Show | 42 | 232 | 0.1810 | 23 | c.131 others(42): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 13/21 | chr17 | TogoVar | ||||||
VPS53_chr17_503668_719839 | 669592 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0005 | a0001c0005t0046 | a0001c0005t0046g0011 | 1 | 232 | 0.0043 | 23 | c.286 others(40): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 4/21 | chr17 | TogoVar | ||||||
VPS54_chr2_63887150_64024428 | 63938059 | G | GGTGTGTG others(16): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0183 | 1 | 304 | 0.0033 | 23 | c.139 others(42): Show |
VPS54 | ENSG00000143952.20 | transcript | ENST00000272322.9 | protein_coding | 11/22 | chr2 | TogoVar | ||||||
VPS54_chr2_63887150_64024428 | 63967718 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01952.hp2 HG02055.hp2 others(4): Show |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0001a0002c0002t0001 | a0001c0004t0001g0020a0001c0004t0001g0024a0001c0004t0001g0049others(4): Show | 7 | 304 | 0.0230 | 23 | c.492 others(40): Show |
VPS54 | ENSG00000143952.20 | transcript | ENST00000272322.9 | protein_coding | 5/22 | chr2 | TogoVar | ||||||
VPS8_chr3_184807166_185057604 | 184842186 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0167 | 1 | 274 | 0.0037 | 23 | c.536 others(40): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
VRTN_chr14_74343471_74365008 | 74344246 | C | CAAAAAAA others(16): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 HG03490.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0028 | 2 | 428 | 0.0047 | 23 | c.-44 others(34): Show |
VRTN | ENSG00000133980.5 | transcript | ENST00000256362.5 | protein_coding | 4224 | chr14 | TogoVar | ||||||
VSIG4_chrX_66016738_66045080 | 66037757 | C | CGTATATA others(16): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01081.hp2 HG01358.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0157others(1): Show | 4 | 218 | 0.0184 | 23 | c.55+ others(38): Show |
VSIG4 | ENSG00000155659.15 | transcript | ENST00000374737.9 | protein_coding | 1/7 | chrX | TogoVar | ||||||
VSNL1_chr2_17535696_17662018 | 17642309 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01257.hp2 HG01496.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0013a0001c0001t0041 | a0001c0001t0005g0025a0001c0001t0013g0095a0001c0001t0041g0096 | 3 | 232 | 0.0129 | 23 | c.163 others(40): Show |
VSNL1 | ENSG00000163032.12 | transcript | ENST00000295156.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
VSTM5_chr11_93813232_93855618 | 93837011 | G | GACACACA others(16): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0072 | 1 | 360 | 0.0028 | 23 | c.91+ others(40): Show |
VSTM5 | ENSG00000214376.6 | transcript | ENST00000409977.2 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
VSX1_chr20_25070463_25087141 | 25086999 | C | CTGCCCGA others(16): Show |
upstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 368 | 0.0027 | 23 | c.-49 others(34): Show |
VSX1 | ENSG00000100987.15 | transcript | ENST00000376709.9 | protein_coding | 4859 | chr20 | TogoVar | ||||||
VSX2_chr14_74234449_74267738 | 74254784 | A | ATTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00597.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0019 | a0001c0001t0001g0020a0001c0001t0001g0031a0001c0001t0001g0043others(20): Show | 26 | 422 | 0.0616 | 23 | c.580 others(40): Show |
VSX2 | ENSG00000119614.3 | transcript | ENST00000261980.3 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
VTA1_chr6_142142263_142229685 | 142181094 | A | AAAAATAT others(16): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0153 | 1 | 334 | 0.0030 | 23 | c.412 others(40): Show |
VTA1 | ENSG00000009844.16 | transcript | ENST00000367630.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
VTA1_chr6_142142263_142229685 | 142181094 | A | AAATATAT others(16): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 | 1 | 334 | 0.0030 | 23 | c.412 others(40): Show |
VTA1 | ENSG00000009844.16 | transcript | ENST00000367630.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
VTI1A_chr10_112442215_112823744 | 112455169 | T | TCCTCTCT others(16): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01081.hp1 HG01109.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0014others(24): Show | 27 | 168 | 0.1607 | 23 | c.95- others(38): Show |
VTI1A | ENSG00000151532.15 | transcript | ENST00000393077.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
VWA2_chr10_114234254_114299489 | 114246505 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03225.hp2 HG03453.hp2 others(1): Show |
a0003a0006 | a0003c0003a0003c0007a0006c0006 | a0003c0003t0010a0003c0003t0025a0003c0007t0014others(1): Show | a0003c0003t0010g0050a0003c0003t0025g0051a0003c0007t0014g0007others(1): Show | 4 | 246 | 0.0163 | 23 | c.-10 others(40): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
VWA3A_chr16_22087541_22161964 | 22115923 | A | AAGGAAGG others(16): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0016 | a0016c0028 | a0016c0028t0001 | a0016c0028t0001g0026 | 1 | 294 | 0.0034 | 23 | c.815 others(38): Show |
VWA3A | ENSG00000175267.15 | transcript | ENST00000389398.10 | protein_coding | 9/33 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
VWA8_chr13_41561835_41966109 | 41882797 | A | AGAGAGGG others(16): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG02074.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0091a0003c0003t0001g0092a0003c0003t0001g0151 | 3 | 250 | 0.0120 | 23 | c.108 others(40): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 9/44 | chr13 | TogoVar | ||||||
VWC2L_chr2_214406054_214583976 | 214421885 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03098.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0011 | a0001c0001t0003g0004a0001c0001t0006g0128a0001c0001t0011g0003 | 3 | 282 | 0.0106 | 23 | c.390 others(40): Show |
VWC2L | ENSG00000174453.10 | transcript | ENST00000312504.10 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
VWC2_chr7_49768638_49926950 | 49877481 | A | AAAAAAAT others(16): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0003 | a0003c0003 | a0003c0003t0011 | a0003c0003t0011g0241 | 1 | 256 | 0.0039 | 23 | c.827 others(42): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
VWC2_chr7_49768638_49926950 | 49877481 | A | AAAAATAT others(16): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0046 | a0002c0002t0046g0051 | 1 | 256 | 0.0039 | 23 | c.827 others(42): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
VWC2_chr7_49768638_49926950 | 49877481 | A | AAAAATAT others(16): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01981.hp2 HG03139.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0001c0001t0009a0001c0001t0044others(3): Show | a0001c0001t0002g0191a0001c0001t0009g0175a0001c0001t0044g0138others(3): Show | 6 | 256 | 0.0234 | 23 | c.827 others(42): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
VWF_chr12_5943877_6129670 | 5983521 | T | TAGATAGA others(16): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0175 | a0001c0175t0001 | a0001c0175t0001g0223 | 1 | 288 | 0.0035 | 23 | c.697 others(40): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 40/51 | chr12 | TogoVar | ||||||
VWF_chr12_5943877_6129670 | 6126490 | A | AGAGTGGA others(16): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 | a0004 | a0004c0021 | a0004c0021t0001 | a0004c0021t0001g0236 | 1 | 288 | 0.0035 | 23 | c.-20 others(34): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 1821 | chr12 | TogoVar | ||||||
WARS1_chr14_100328790_100380347 | 100371447 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03834.hp2 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165a0001c0001t0001g0273 | 2 | 338 | 0.0059 | 23 | c.-73 others(40): Show |
WARS1 | ENSG00000140105.18 | transcript | ENST00000392882.7 | protein_coding | 1/10 | chr14 | TogoVar | ||||||
WASF1_chr6_110094819_110184670 | 110124235 | C | CCTCTCTC others(16): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 262 | 0.0038 | 23 | c.133 others(40): Show |
WASF1 | ENSG00000112290.13 | transcript | ENST00000392589.6 | protein_coding | 4/10 | chr6 | TogoVar | ||||||
WASF1_chr6_110094819_110184670 | 110142952 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02132.hp1 NA18955.hp2 NA18989.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0156a0001c0001t0004g0173a0001c0001t0004g0175 | 3 | 262 | 0.0115 | 23 | c.-28 others(42): Show |
WASF1 | ENSG00000112290.13 | transcript | ENST00000392589.6 | protein_coding | 3/10 | chr6 | TogoVar |