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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VEZT_chr12_95212807_95307799 | 95218679 | A | AAAAATGA others(4): Show |
intron_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 424 | 0.0024 | 11 | c.36+ others(24): Show |
VEZT | ENSG00000028203.19 | transcript | ENST00000436874.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
VEZT_chr12_95212807_95307799 | 95289089 | A | AAAAAAAT others(4): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0356 | 1 | 221 | 0.0045 | 11 | c.152 others(30): Show |
VEZT | ENSG00000028203.19 | transcript | ENST00000436874.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
VGLL3_chr3_86932973_86996149 | 86992740 | C | CTTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 NA19003.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010 | a0001c0001t0006g0066 a0001c0001t0010g0075 |
2 | 126 | 0.0159 | 11 | c.-19 others(22): Show |
VGLL3 | ENSG00000206538.9 | transcript | ENST00000398399.7 | protein_coding | 1592 | chr3 | TogoVar | |||||||
VGLL4_chr3_11551069_11648915 | 11645603 | C | CAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 HG01081.hp1 HG01243.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0033 a0001c0001t0001g0044 a0001c0001t0001g0053 others(14): Show |
17 | 192 | 0.0885 | 11 | c.-20 others(22): Show |
VGLL4 | ENSG00000144560.16 | transcript | ENST00000430365.7 | protein_coding | 1689 | chr3 | TogoVar | |||||||
VGLL4_chr3_11551069_11648915 | 11647742 | C | CAGTCTGG others(4): Show |
upstream_gene_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 175 | 0.0057 | 11 | c.-42 others(22): Show |
VGLL4 | ENSG00000144560.16 | transcript | ENST00000430365.7 | protein_coding | 3828 | chr3 | TogoVar | |||||||
VHLL_chr1_156293624_156304307 | 156296577 | A | ATATATAT others(4): Show |
downstream_gene_variant | MODIFIER | HG03492.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 325 | 0.0062 | 11 | c.*21 others(22): Show |
VHLL | ENSG00000189030.10 | transcript | ENST00000339922.5 | protein_coding | 2046 | chr1 | TogoVar | |||||||
VHLL_chr1_156293624_156304307 | 156296579 | A | AAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 194 | 0.0052 | 11 | c.*21 others(22): Show |
VHLL | ENSG00000189030.10 | transcript | ENST00000339922.5 | protein_coding | 2044 | chr1 | TogoVar | |||||||
VHLL_chr1_156293624_156304307 | 156296579 | A | AAAAAAAT others(4): Show |
downstream_gene_variant | MODIFIER | HG02155.hp2 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 195 | 0.0103 | 11 | c.*21 others(22): Show |
VHLL | ENSG00000189030.10 | transcript | ENST00000339922.5 | protein_coding | 2044 | chr1 | TogoVar | |||||||
VHLL_chr1_156293624_156304307 | 156296579 | A | AAAAATAT others(4): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 194 | 0.0052 | 11 | c.*21 others(22): Show |
VHLL | ENSG00000189030.10 | transcript | ENST00000339922.5 | protein_coding | 2044 | chr1 | TogoVar | |||||||
VHLL_chr1_156293624_156304307 | 156296579 | A | AAATATAT others(4): Show |
downstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 194 | 0.0052 | 11 | c.*21 others(22): Show |
VHLL | ENSG00000189030.10 | transcript | ENST00000339922.5 | protein_coding | 2044 | chr1 | TogoVar | |||||||
VHLL_chr1_156293624_156304307 | 156296642 | A | AGAGAGAG others(4): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 375 | 0.0053 | 11 | c.*21 others(22): Show |
VHLL | ENSG00000189030.10 | transcript | ENST00000339922.5 | protein_coding | 1981 | chr1 | TogoVar | |||||||
VIL1_chr2_218414123_218458295 | 218434197 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(53): Show |
a0001a0003 | a0001c0001a0001c0012a0001c0013others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0002g0035 a0001c0001t0003g0002 a0001c0001t0003g0006 others(34): Show |
56 | 275 | 0.2036 | 11 | c.150 others(28): Show |
VIL1 | ENSG00000127831.11 | transcript | ENST00000248444.10 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VIPR1_chr3_42497643_42542568 | 42507956 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0009 | a0001c0009t0003 | a0001c0009t0003g0063 | 1 | 31 | 0.0323 | 11 | c.78+ others(26): Show |
VIPR1 | ENSG00000114812.13 | transcript | ENST00000325123.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VIPR1_chr3_42497643_42542568 | 42522102 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01361.hp1 HG01516.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0006 a0001c0001t0002g0026 a0001c0001t0002g0147 others(1): Show |
5 | 342 | 0.0146 | 11 | c.292 others(28): Show |
VIPR1 | ENSG00000114812.13 | transcript | ENST00000325123.5 | protein_coding | 3/12 | chr3 | TogoVar | |||||||
VIPR2_chr7_159023175_159149867 | 159135004 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0008 | a0001c0008t0016 | a0001c0008t0016g0321 | 1 | 228 | 0.0044 | 11 | c.151 others(28): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 2/12 | chr7 | TogoVar | |||||||
VIT_chr2_36691707_36819794 | 36728812 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01255.hp2 HG01361.hp2 others(4): Show |
a0001a0004 | a0001c0001a0001c0009a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0166 a0001c0001t0001g0179 a0001c0001t0001g0234 others(4): Show |
7 | 196 | 0.0357 | 11 | c.53- others(24): Show |
VIT | ENSG00000205221.13 | transcript | ENST00000379242.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VIT_chr2_36691707_36819794 | 36728834 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0193 a0001c0001t0002g0284 |
2 | 326 | 0.0061 | 11 | c.53- others(24): Show |
VIT | ENSG00000205221.13 | transcript | ENST00000379242.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VKORC1L1_chr7_65868074_65964558 | 65879651 | G | GTCTTCCT others(4): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02132.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 a0001c0001t0001g0246 |
2 | 348 | 0.0057 | 11 | c.194 others(28): Show |
VKORC1L1 | ENSG00000196715.7 | transcript | ENST00000360768.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VMAC_chr19_5899872_5915853 | 5907610 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01928.hp2 HG02809.hp2 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0046 a0001c0001t0008g0072 |
3 | 57 | 0.0526 | 11 | c.192 others(28): 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(4): Show |
intron_variant | MODIFIER | HG03471.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0095 a0001c0001t0003g0112 |
2 | 18 | 0.1111 | 11 | c.583 others(26): Show |
VMP1 | ENSG00000062716.13 | transcript | ENST00000262291.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
VMP1_chr17_59702654_59847255 | 59809484 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0275 | 1 | 27 | 0.0370 | 11 | c.795 others(26): Show |
VMP1 | ENSG00000062716.13 | transcript | ENST00000262291.9 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
VN1R1_chr19_57449790_57462140 | 57454464 | T | TTTCTTTC others(4): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00733.hp2 others(77): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0008 | a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0001t0008g0000 |
80 | 412 | 0.1942 | 11 | c.*96 others(20): Show |
VN1R1 | ENSG00000178201.5 | transcript | ENST00000321039.5 | protein_coding | 325 | chr19 | TogoVar | |||||||
VN1R1_chr19_57449790_57462140 | 57457969 | T | TGTGTGTG others(4): Show |
upstream_gene_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 412 | 0.0024 | 11 | c.-14 others(22): Show |
VN1R1 | ENSG00000178201.5 | transcript | ENST00000321039.5 | protein_coding | 830 | chr19 | TogoVar | |||||||
VNN2_chr6_132738870_132762904 | 132758040 | T | TTCTTCTT others(4): Show |
upstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0104 | 1 | 418 | 0.0024 | 11 | c.-15 others(20): Show |
VNN2 | ENSG00000112303.14 | transcript | ENST00000326499.11 | protein_coding | 137 | chr6 | TogoVar | |||||||
VOPP1_chr7_55465613_55577502 | 55516932 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0288 | 1 | 183 | 0.0055 | 11 | c.113 others(28): Show |
VOPP1 | ENSG00000154978.13 | transcript | ENST00000285279.10 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
VOPP1_chr7_55465613_55577502 | 55516933 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0222 | 1 | 311 | 0.0032 | 11 | c.113 others(28): Show |
VOPP1 | ENSG00000154978.13 | transcript | ENST00000285279.10 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
VPS13A_chr9_77172534_77426537 | 77341691 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01515.hp1 HG02257.hp1 others(4): Show |
a0001a0007 | a0001c0005a0001c0006a0001c0016others(2): Show | a0001c0005t0005a0001c0006t0005a0001c0016t0004others(2): Show | a0001c0005t0005g0016 a0001c0005t0005g0017 a0001c0006t0005g0022 others(4): Show |
7 | 63 | 0.1111 | 11 | c.702 others(30): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 50/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77377686 | A | ACTTCTTC others(4): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02809.hp2 |
a0001 | a0001c0001a0001c0028 | a0001c0001t0016a0001c0028t0050 | a0001c0001t0016g0164 a0001c0028t0050g0148 |
2 | 346 | 0.0058 | 11 | c.907 others(30): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 67/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77400223 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02630.hp2 HG02723.hp2 others(3): Show |
a0001a0004a0006 | a0001c0001a0004c0009a0006c0019 | a0001c0001t0013a0001c0001t0030a0004c0009t0011others(1): Show | a0001c0001t0013g0208 a0001c0001t0013g0210 a0001c0001t0030g0209 others(3): Show |
6 | 129 | 0.0465 | 11 | c.919 others(30): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 68/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99270131 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00642.hp2 others(11): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0003c0005others(2): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0002t0001g0008 others(11): Show |
14 | 29 | 0.4828 | 11 | c.251 others(30): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 17/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99325745 | G | GAAGAAAC others(4): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(82): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0010others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(31): Show | a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0073 others(82): Show |
85 | 132 | 0.6439 | 11 | c.282 others(32): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99326452 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01934.hp1 HG01981.hp2 NA19004.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0004a0003c0006 | a0001c0001t0002a0003c0004t0001a0003c0006t0004 | a0001c0001t0002g0070 a0001c0001t0002g0098 a0003c0004t0001g0065 others(1): Show |
4 | 37 | 0.1081 | 11 | c.282 others(32): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99474183 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0010 | a0010c0025 | a0010c0025t0010 | a0010c0025t0010g0108 | 1 | 59 | 0.0169 | 11 | c.366 others(30): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 24/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99624008 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01261.hp2 HG02922.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0021others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0021t0001others(2): Show | a0001c0001t0002g0032 a0001c0002t0001g0016 a0001c0002t0001g0034 others(3): Show |
6 | 110 | 0.0545 | 11 | c.522 others(32): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 33/61 | chr8 | TogoVar | |||||||
VPS13B_chr8_99008274_99882580 | 99763135 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03041.hp2 |
a0003a0005 | a0003c0004a0005c0009 | a0003c0004t0001a0005c0009t0004 | a0003c0004t0001g0066 a0005c0009t0004g0120 |
2 | 64 | 0.0313 | 11 | c.705 others(30): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 39/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99831076 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02895.hp1 NA19058.hp2 |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0001a0003c0005t0004 | a0001c0002t0001g0009 a0003c0005t0004g0130 |
2 | 62 | 0.0323 | 11 | c.933 others(30): 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(4): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0005 | a0005c0005 | a0005c0005t0004 | a0005c0005t0004g0023 | 1 | 100 | 0.0100 | 11 | c.661 others(30): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 53/84 | chr15 | TogoVar | |||||||
VPS13C_chr15_61847389_62065447 | 62005552 | C | CTACAATA others(4): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0026 | a0026c0042 | a0026c0042t0009 | a0026c0042t0009g0344 | 1 | 350 | 0.0029 | 11 | c.129 others(30): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 15/84 | chr15 | TogoVar | |||||||
VPS13D_chr1_12225030_12517047 | 12352965 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0047 | 1 | 19 | 0.0526 | 11 | c.943 others(28): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12373095 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02004.hp1 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0012a0001c0014t0012 | a0001c0001t0012g0121 a0001c0014t0012g0075 |
2 | 47 | 0.0426 | 11 | c.108 others(30): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 54/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS16_chr20_2835745_2871732 | 2854265 | A | ACACACAC others(4): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02071.hp1 HG03942.hp2 |
a0001a0007 | a0001c0001a0007c0006 | a0001c0001t0001a0007c0006t0001 | a0001c0001t0001g0131 a0001c0001t0001g0145 a0007c0006t0001g0163 |
3 | 403 | 0.0074 | 11 | c.54- others(26): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | chr20 | TogoVar | |||||||
VPS16_chr20_2835745_2871732 | 2868310 | C | CTTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG01123.hp1 HG01243.hp2 others(5): Show |
a0001a0002 | a0001c0003a0002c0005 | a0001c0003t0002a0002c0005t0004 | a0001c0003t0002g0004 a0001c0003t0002g0114 a0001c0003t0002g0181 others(4): Show |
8 | 250 | 0.0320 | 11 | c.*17 others(22): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1579 | chr20 | TogoVar | |||||||
VPS18_chr15_40889450_40908975 | 40905237 | C | CTTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 HG02074.hp2 HG03669.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0002 | a0001c0002t0002g0002 a0001c0003t0002g0039 a0001c0003t0002g0090 |
4 | 257 | 0.0156 | 11 | c.*18 others(22): Show |
VPS18 | ENSG00000104142.11 | transcript | ENST00000220509.10 | protein_coding | 1263 | chr15 | TogoVar | |||||||
VPS25_chr17_42768449_42784599 | 42769936 | C | CTTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG02486.hp2 HG02630.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0009 a0001c0002t0001g0029 a0001c0002t0002g0018 |
7 | 252 | 0.0278 | 11 | c.-35 others(22): Show |
VPS25 | ENSG00000131475.7 | transcript | ENST00000253794.7 | protein_coding | 3512 | chr17 | TogoVar | |||||||
VPS26A_chr10_69119178_69179412 | 69151278 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0174 | 1 | 309 | 0.0032 | 11 | c.154 others(28): 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(4): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02145.hp2 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0019 | a0001c0001t0001g0191 a0001c0001t0001g0281 a0001c0001t0002g0085 others(1): Show |
4 | 49 | 0.0816 | 11 | c.57+ others(28): Show |
VPS26C | ENSG00000157538.14 | transcript | ENST00000309117.11 | protein_coding | 1/7 | chr21 | TogoVar | |||||||
VPS33A_chr12_122224564_122271494 | 122239749 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02735.hp2 HG03704.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0186 a0001c0001t0002g0192 a0001c0001t0002g0225 others(1): Show |
4 | 50 | 0.0800 | 11 | c.116 others(28): Show |
VPS33A | ENSG00000139719.11 | transcript | ENST00000267199.9 | protein_coding | 9/12 | chr12 | TogoVar | |||||||
VPS33B_chr15_90993673_91027594 | 91017365 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0002 | 1 | 317 | 0.0032 | 11 | c.178 others(26): Show |
VPS33B | ENSG00000184056.15 | transcript | ENST00000333371.8 | protein_coding | 2/22 | chr15 | TogoVar | |||||||
VPS35L_chr16_19550703_19706163 | 19622140 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0114 | 1 | 63 | 0.0159 | 11 | c.122 others(30): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 14/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19666927 | T | TCTTTCTT others(4): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 52 | 0.0192 | 11 | c.222 others(30): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 26/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |