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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VMP1_chr17_59702654_59847255 | 59777812 | T | TCAAAA | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG00639.hp2 others(58): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0186 others(58): Show |
61 | 195 | 0.3128 | 5 | c.714 others(22): Show |
VMP1 | ENSG00000062716.13 | transcript | ENST00000262291.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
VMP1_chr17_59702654_59847255 | 59789835 | C | CTTTTT | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02258.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 others(11): Show |
14 | 29 | 0.4828 | 5 | c.714 others(24): Show |
VMP1 | ENSG00000062716.13 | transcript | ENST00000262291.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
VMP1_chr17_59702654_59847255 | 59817342 | C | CTTTTA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(104): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(4): Show | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0100 others(104): Show |
107 | 284 | 0.3768 | 5 | c.913 others(20): Show |
VMP1 | ENSG00000062716.13 | transcript | ENST00000262291.9 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
VMP1_chr17_59702654_59847255 | 59832573 | A | ATTTGT | intron_variant | MODIFIER | HG02615.hp1 HG02622.hp1 HG02895.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0003g0108 others(3): Show |
6 | 115 | 0.0522 | 5 | c.975 others(22): Show |
VMP1 | ENSG00000062716.13 | transcript | ENST00000262291.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
VN1R1_chr19_57449790_57462140 | 57453198 | C | CTTCTT | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG00735.hp2 others(88): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(3): Show |
91 | 428 | 0.2126 | 5 | c.*22 others(16): Show |
VN1R1 | ENSG00000178201.5 | transcript | ENST00000321039.5 | protein_coding | 1591 | chr19 | TogoVar | |||||||
VN1R1_chr19_57449790_57462140 | 57459209 | C | CCCAGT | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00423.hp1 others(279): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(7): Show |
282 | 428 | 0.6589 | 5 | c.-27 others(16): Show |
VN1R1 | ENSG00000178201.5 | transcript | ENST00000321039.5 | protein_coding | 2070 | chr19 | TogoVar | |||||||
VNN1_chr6_132675849_132719055 | 132676682 | C | CATTTT | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00609.hp1 HG01109.hp2 others(43): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0002 a0001c0001t0003g0146 a0001c0001t0004g0203 others(28): Show |
46 | 278 | 0.1655 | 5 | c.*64 others(16): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 4166 | chr6 | TogoVar | |||||||
VNN2_chr6_132738870_132762904 | 132740146 | A | AGTTTT | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00673.hp1 others(34): Show |
a0001a0010 | a0001c0001a0001c0006a0010c0011 | a0001c0001t0002a0001c0001t0006a0001c0006t0002others(1): Show | a0001c0001t0002g0002 a0001c0001t0002g0022 a0001c0001t0002g0042 others(6): Show |
37 | 434 | 0.0853 | 5 | c.*41 others(16): Show |
VNN2 | ENSG00000112303.14 | transcript | ENST00000326499.11 | protein_coding | 3723 | chr6 | TogoVar | |||||||
VPREB3_chr22_23747743_23759425 | 23749348 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02559.hp1 HG02647.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0007 |
7 | 95 | 0.0737 | 5 | c.*35 others(16): Show |
VPREB3 | ENSG00000128218.8 | transcript | ENST00000248948.4 | protein_coding | 3394 | chr22 | TogoVar | |||||||
VPREB3_chr22_23747743_23759425 | 23749527 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG02257.hp1 HG02280.hp1 HG02723.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0004 a0002c0002t0001g0006 |
11 | 131 | 0.0840 | 5 | c.*33 others(16): Show |
VPREB3 | ENSG00000128218.8 | transcript | ENST00000248948.4 | protein_coding | 3215 | chr22 | TogoVar | |||||||
VPS11_chr11_119062818_119086972 | 119068996 | A | ACCCCC | intron_variant | MODIFIER | HG01099.hp2 HG01167.hp2 HG02257.hp2 others(14): Show |
a0001 | a0001c0001a0001c0003a0001c0010 | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(1): Show | a0001c0001t0001g0024 a0001c0001t0001g0135 a0001c0001t0001g0145 others(9): Show |
17 | 166 | 0.1024 | 5 | c.188 others(20): Show |
VPS11 | ENSG00000160695.16 | transcript | ENST00000621676.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
VPS11_chr11_119062818_119086972 | 119070942 | T | TTTTTC | intron_variant | MODIFIER | HG01168.hp2 HG02015.hp2 HG02280.hp1 others(18): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0048 a0001c0004t0001g0016 a0001c0004t0001g0053 others(14): Show |
21 | 229 | 0.0917 | 5 | c.636 others(20): Show |
VPS11 | ENSG00000160695.16 | transcript | ENST00000621676.5 | protein_coding | 4/15 | chr11 | TogoVar | |||||||
VPS11_chr11_119062818_119086972 | 119085172 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01106.hp2 HG01255.hp1 others(11): Show |
a0001a0009a0011 | a0001c0001a0001c0004a0009c0031others(1): Show | a0001c0001t0001a0001c0004t0001a0009c0031t0001others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0140 others(8): Show |
14 | 50 | 0.2800 | 5 | c.*35 others(16): Show |
VPS11 | ENSG00000160695.16 | transcript | ENST00000621676.5 | protein_coding | 3201 | chr11 | TogoVar | |||||||
VPS11_chr11_119062818_119086972 | 119086665 | G | GAAAAA | downstream_gene_variant | MODIFIER | HG00741.hp2 HG02258.hp1 HG02486.hp2 others(7): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0137 a0001c0005t0001g0011 a0001c0005t0001g0107 others(3): Show |
10 | 238 | 0.0420 | 5 | c.*50 others(16): Show |
VPS11 | ENSG00000160695.16 | transcript | ENST00000621676.5 | protein_coding | 4694 | chr11 | TogoVar | |||||||
VPS13A_chr9_77172534_77426537 | 77174355 | G | GAAAAA | upstream_gene_variant | MODIFIER | HG03579.hp2 HG03710.hp1 NA18966.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001a0001c0003t0003others(2): Show | a0001c0001t0002g0116 a0001c0003t0001g0235 a0001c0003t0003g0222 others(7): Show |
10 | 107 | 0.0935 | 5 | c.-33 others(16): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 3178 | chr9 | TogoVar | |||||||
VPS13A_chr9_77172534_77426537 | 77179775 | A | AACCAC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00544.hp2 others(83): Show |
a0001a0003a0005others(4): Show | a0001c0001a0001c0002a0001c0011others(8): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0029others(17): Show | a0001c0001t0003g0257 a0001c0001t0003g0267 a0001c0001t0003g0279 others(83): Show |
86 | 346 | 0.2486 | 5 | c.100 others(22): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 1/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77210219 | T | TCTCCC | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00642.hp2 others(41): Show |
a0001a0006a0007 | a0001c0005a0001c0006a0001c0007others(8): Show | a0001c0005t0005a0001c0005t0031a0001c0006t0005others(11): Show | a0001c0005t0005g0016 a0001c0005t0005g0017 a0001c0005t0005g0025 others(40): Show |
44 | 330 | 0.1333 | 5 | c.496 others(20): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 6/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77377212 | T | TTTTTG | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG01081.hp2 others(6): Show |
a0001 | a0001c0007a0001c0016a0001c0039 | a0001c0007t0009a0001c0007t0021a0001c0016t0004others(1): Show | a0001c0007t0009g0340 a0001c0007t0009g0341 a0001c0007t0009g0343 others(5): Show |
9 | 346 | 0.0260 | 5 | c.907 others(24): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 67/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77400223 | A | ATTTTT | intron_variant | MODIFIER | HG01109.hp2 HG02027.hp1 HG02071.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0036 | a0001c0001t0018a0001c0003t0003a0001c0003t0004others(2): Show | a0001c0001t0018g0044 a0001c0003t0003g0217 a0001c0003t0003g0222 others(7): Show |
10 | 133 | 0.0752 | 5 | c.919 others(24): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 68/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77411660 | C | CAAAAA | intron_variant | MODIFIER | HG01943.hp2 HG02015.hp1 HG02258.hp1 others(11): Show |
a0001 | a0001c0001a0001c0028a0001c0037 | a0001c0001t0013a0001c0001t0016a0001c0001t0025others(6): Show | a0001c0001t0013g0205 a0001c0001t0013g0208 a0001c0001t0013g0210 others(11): Show |
14 | 100 | 0.1400 | 5 | c.947 others(24): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 71/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99014110 | C | CTTTTT | intron_variant | MODIFIER | HG00597.hp1 HG01981.hp2 HG02080.hp1 others(2): Show |
a0001a0003a0021 | a0001c0001a0001c0002a0003c0006others(1): Show | a0001c0001t0002a0001c0002t0001a0003c0006t0004others(1): Show | a0001c0001t0002g0041 a0001c0002t0001g0042 a0003c0006t0004g0127 others(2): Show |
5 | 65 | 0.0769 | 5 | c.147 others(20): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 2/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99303258 | C | CAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG00738.hp1 HG01243.hp2 others(10): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0010a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0010t0005others(7): Show | a0001c0001t0001g0114 a0001c0001t0002g0043 a0001c0001t0002g0051 others(10): Show |
13 | 59 | 0.2203 | 5 | c.282 others(26): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99365516 | C | CTTCTT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(54): Show |
a0001a0002a0007others(6): Show | a0001c0001a0001c0002a0001c0010others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0073 others(54): Show |
57 | 109 | 0.5229 | 5 | c.282 others(26): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99378134 | G | GCCCCC | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00609.hp2 others(21): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0008others(8): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(11): Show | a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0026 others(21): Show |
24 | 41 | 0.5854 | 5 | c.282 others(24): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99624008 | T | TATATA | intron_variant | MODIFIER | HG01891.hp2 HG02895.hp2 HG02897.hp1 others(1): Show |
a0001a0003a0012others(1): Show | a0001c0001a0003c0033a0012c0028others(1): Show | a0001c0001t0002a0003c0033t0006a0012c0028t0002others(1): Show | a0001c0001t0002g0069 a0003c0033t0006g0134 a0012c0028t0002g0078 others(1): Show |
4 | 108 | 0.0370 | 5 | c.522 others(26): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 33/61 | chr8 | TogoVar | |||||||
VPS13B_chr8_99008274_99882580 | 99737106 | C | CTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG01243.hp2 HG01884.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0003others(2): Show | a0001c0001t0001g0114 a0001c0002t0001g0047 a0002c0003t0003g0101 others(3): Show |
6 | 22 | 0.2727 | 5 | c.705 others(26): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 39/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13C_chr15_61847389_62065447 | 61923861 | C | CTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG01106.hp1 HG01175.hp1 others(37): Show |
a0001a0002a0006others(4): Show | a0001c0001a0002c0002a0006c0006others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(10): Show | a0001c0001t0002g0003 a0001c0001t0002g0234 a0001c0001t0002g0237 others(36): Show |
40 | 139 | 0.2878 | 5 | c.661 others(24): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 53/84 | chr15 | TogoVar | |||||||
VPS13D_chr1_12225030_12517047 | 12285288 | A | ATTTAT | intron_variant | MODIFIER | HG03579.hp1 HG06807.hp1 |
a0001 | a0001c0009 | a0001c0009t0004a0001c0009t0008 | a0001c0009t0004g0018 a0001c0009t0008g0017 |
2 | 152 | 0.0132 | 5 | c.563 others(24): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12285929 | C | CTTCCT | intron_variant | MODIFIER | HG01255.hp2 HG02698.hp2 HG03017.hp2 others(4): Show |
a0001a0014 | a0001c0001a0001c0006a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0003others(2): Show | a0001c0001t0001g0091 a0001c0001t0001g0146 a0001c0001t0001g0147 others(4): Show |
7 | 94 | 0.0745 | 5 | c.563 others(24): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12285990 | T | TTCCTC | intron_variant | MODIFIER | HG01071.hp2 HG01243.hp2 HG01255.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0012others(1): Show | a0001c0001t0004a0001c0001t0019a0001c0002t0001others(4): Show | a0001c0001t0004g0126 a0001c0001t0019g0102 a0001c0002t0001g0099 others(5): Show |
8 | 100 | 0.0800 | 5 | c.563 others(24): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12352965 | C | CAAAAA | intron_variant | MODIFIER | HG02071.hp2 HG02572.hp2 HG02895.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(4): Show | a0001c0001t0001g0037 a0001c0001t0001g0097 a0001c0001t0002g0064 others(5): Show |
8 | 26 | 0.3077 | 5 | c.943 others(22): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12361391 | A | ATTTAT | intron_variant | MODIFIER | HG03017.hp1 HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0042 a0001c0002t0002g0040 a0001c0002t0002g0041 |
3 | 152 | 0.0197 | 5 | c.101 others(26): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 50/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12361395 | A | ATTTAT | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG01884.hp1 others(10): Show |
a0001a0003a0007others(1): Show | a0001c0002a0001c0011a0001c0012others(4): Show | a0001c0002t0007a0001c0011t0011a0001c0011t0018others(6): Show | a0001c0002t0007g0066 a0001c0011t0011g0016 a0001c0011t0018g0015 others(10): Show |
13 | 146 | 0.0890 | 5 | c.101 others(26): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 50/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12381912 | C | CTTTCT | intron_variant | MODIFIER | HG01071.hp2 HG01255.hp1 HG01255.hp2 others(12): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0019others(6): Show | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0101 others(12): Show |
15 | 152 | 0.0987 | 5 | c.111 others(26): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS16_chr20_2835745_2871732 | 2854960 | A | ATTTTT | intron_variant | MODIFIER | HG00423.hp2 HG00735.hp1 HG00741.hp1 others(40): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0002 | a0001c0001t0001g0010 a0001c0001t0001g0036 a0001c0001t0001g0116 others(26): Show |
43 | 101 | 0.4257 | 5 | c.54- others(20): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
VPS26A_chr10_69119178_69179412 | 69127093 | A | ATTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00735.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(1): Show | a0001c0001t0001g0254 a0001c0001t0004g0002 a0001c0001t0004g0250 others(15): Show |
20 | 127 | 0.1575 | 5 | c.3+2 others(18): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VPS26A_chr10_69119178_69179412 | 69151264 | C | CAAAAA | intron_variant | MODIFIER | HG01891.hp1 HG02630.hp1 HG02895.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0002a0001c0003t0007a0001c0005t0007 | a0001c0001t0002g0066 a0001c0003t0007g0003 a0001c0003t0007g0267 others(1): Show |
6 | 263 | 0.0228 | 5 | c.154 others(22): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VPS26A_chr10_69119178_69179412 | 69151278 | A | AAAAAC | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp2 others(21): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0014 | a0001c0002t0006g0004 a0001c0002t0006g0023 a0001c0002t0006g0276 others(17): Show |
24 | 332 | 0.0723 | 5 | c.154 others(22): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VPS26A_chr10_69119178_69179412 | 69174624 | A | AAAAAC | downstream_gene_variant | MODIFIER | HG01891.hp1 NA18949.hp2 NA18982.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0007 | a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0198 others(6): Show |
11 | 334 | 0.0329 | 5 | c.*33 others(16): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 213 | chr10 | TogoVar | |||||||
VPS26A_chr10_69119178_69179412 | 69174629 | A | AAAAAC | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(181): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0013 others(157): Show |
184 | 279 | 0.6595 | 5 | c.*33 others(16): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 218 | chr10 | TogoVar | |||||||
VPS33A_chr12_122224564_122271494 | 122237741 | A | AGGCGT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(203): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(183): Show |
206 | 344 | 0.5988 | 5 | c.130 others(22): Show |
VPS33A | ENSG00000139719.11 | transcript | ENST00000267199.9 | protein_coding | 10/12 | chr12 | TogoVar | |||||||
VPS33A_chr12_122224564_122271494 | 122255707 | C | CAAAAA | intron_variant | MODIFIER | HG01106.hp1 HG01123.hp2 HG02145.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0010 | a0001c0001t0001g0237 a0001c0001t0001g0275 a0001c0001t0001g0277 others(4): Show |
7 | 161 | 0.0435 | 5 | c.484 others(22): Show |
VPS33A | ENSG00000139719.11 | transcript | ENST00000267199.9 | protein_coding | 4/12 | chr12 | TogoVar | |||||||
VPS33A_chr12_122224564_122271494 | 122267207 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02258.hp1 HG02622.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0012a0001c0003t0005others(1): Show | a0001c0001t0001g0226 a0001c0001t0012g0154 a0001c0001t0012g0155 others(3): Show |
7 | 11 | 0.6364 | 5 | c.-80 others(14): Show |
VPS33A | ENSG00000139719.11 | transcript | ENST00000267199.9 | protein_coding | 714 | chr12 | TogoVar | |||||||
VPS33B_chr15_90993673_91027594 | 91011990 | A | AAAAAC | intron_variant | MODIFIER | HG00099.hp1 HG00673.hp2 HG01106.hp2 others(20): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0002others(3): Show | a0001c0001t0001g0079 a0001c0001t0001g0104 a0001c0001t0001g0114 others(19): Show |
23 | 261 | 0.0881 | 5 | c.357 others(22): Show |
VPS33B | ENSG00000184056.15 | transcript | ENST00000333371.8 | protein_coding | 5/22 | chr15 | TogoVar | |||||||
VPS36_chr13_52407606_52455634 | 52429513 | G | GAGAAC | intron_variant | MODIFIER | HG06807.hp2 NA18522.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0028 | a0001c0001t0009g0030 a0001c0001t0028g0261 |
3 | 336 | 0.0089 | 5 | c.529 others(22): Show |
VPS36 | ENSG00000136100.14 | transcript | ENST00000378060.9 | protein_coding | 6/13 | chr13 | TogoVar | |||||||
VPS36_chr13_52407606_52455634 | 52436644 | G | GATTAA | intron_variant | MODIFIER | HG06807.hp2 NA18522.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0028 | a0001c0001t0009g0030 a0001c0001t0028g0261 |
3 | 335 | 0.0090 | 5 | c.237 others(20): Show |
VPS36 | ENSG00000136100.14 | transcript | ENST00000378060.9 | protein_coding | 3/13 | chr13 | TogoVar | |||||||
VPS36_chr13_52407606_52455634 | 52445923 | G | GAGAAA | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG06807.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0028 | a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0009g0030 others(1): Show |
5 | 336 | 0.0149 | 5 | c.97- others(20): Show |
VPS36 | ENSG00000136100.14 | transcript | ENST00000378060.9 | protein_coding | 1/13 | chr13 | TogoVar | |||||||
VPS37A_chr8_17241958_17303024 | 17302703 | A | ACCCCC | downstream_gene_variant | MODIFIER | HG01074.hp1 HG01106.hp2 HG01123.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0003g0112 a0001c0001t0004g0171 a0001c0001t0004g0184 others(12): Show |
16 | 84 | 0.1905 | 5 | c.*77 others(16): Show |
VPS37A | ENSG00000155975.10 | transcript | ENST00000324849.9 | protein_coding | 4680 | chr8 | TogoVar | |||||||
VPS37C_chr11_61125257_61166426 | 61163273 | G | GCAGTC | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(178): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(150): Show |
181 | 210 | 0.8619 | 5 | c.-18 others(16): Show |
VPS37C | ENSG00000167987.11 | transcript | ENST00000301765.10 | protein_coding | 1848 | chr11 | TogoVar | |||||||
VPS37D_chr7_73662831_73677110 | 73667893 | G | GGAGCC | 5_prime_UTR_variant | MODIFIER | HG00733.hp2 HG02055.hp1 HG02809.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 a0001c0001t0003g0012 |
6 | 378 | 0.0159 | 5 | c.-64 others(12): Show |
VPS37D | ENSG00000176428.6 | transcript | ENST00000324941.5 | protein_coding | 1/4 | 59 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |