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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VPS16_chr20_2835745_2871732 | 2868310 | C | CTTTTTTT others(5): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG02602.hp1 NA18953.hp2 others(3): Show |
a0001a0002 | a0001c0003a0002c0005 | a0001c0003t0002a0002c0005t0004 | a0001c0003t0002g0004 a0002c0005t0004g0040 a0002c0005t0004g0041 others(3): Show |
6 | 248 | 0.0242 | 12 | c.*17 others(23): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1579 | chr20 | TogoVar | |||||||
VPS18_chr15_40889450_40908975 | 40905237 | C | CTTTTTTT others(5): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 HG01081.hp1 HG01106.hp2 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(3): Show | a0001c0001t0001g0009 a0001c0001t0001g0077 a0001c0001t0002g0050 others(11): Show |
43 | 296 | 0.1453 | 12 | c.*18 others(23): Show |
VPS18 | ENSG00000104142.11 | transcript | ENST00000220509.10 | protein_coding | 1263 | chr15 | TogoVar | |||||||
VPS25_chr17_42768449_42784599 | 42769936 | C | CTTTTTTT others(5): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02809.hp2 HG02895.hp1 others(8): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0001c0002t0002a0002c0004t0001 | a0001c0002t0001g0014 a0001c0002t0002g0008 a0001c0002t0002g0017 others(1): Show |
11 | 256 | 0.0430 | 12 | c.-35 others(23): Show |
VPS25 | ENSG00000131475.7 | transcript | ENST00000253794.7 | protein_coding | 3512 | chr17 | TogoVar | |||||||
VPS26A_chr10_69119178_69179412 | 69136782 | G | GTTATTTA others(5): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02572.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0026 | a0001c0002t0008g0026 a0001c0002t0008g0027 a0001c0002t0008g0028 others(8): Show |
11 | 332 | 0.0331 | 12 | c.153 others(29): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VPS26A_chr10_69119178_69179412 | 69137862 | G | GATATATA others(5): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0028 | 1 | 313 | 0.0032 | 12 | c.153 others(29): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VPS26B_chr11_134219671_134252788 | 134240794 | C | CGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG02109.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005 | a0001c0001t0002g0172 a0001c0001t0003g0051 a0001c0001t0003g0141 others(6): Show |
16 | 173 | 0.0925 | 12 | c.545 others(27): Show |
VPS26B | ENSG00000151502.11 | transcript | ENST00000281187.10 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
VPS29_chr12_110486083_110507111 | 110492599 | T | TTTTATTT others(5): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00741.hp2 HG01192.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0023 a0001c0001t0002g0044 a0001c0001t0002g0065 others(2): Show |
6 | 39 | 0.1538 | 12 | c.431 others(27): Show |
VPS29 | ENSG00000111237.19 | transcript | ENST00000549578.6 | protein_coding | 3/3 | chr12 | TogoVar | |||||||
VPS29_chr12_110486083_110507111 | 110500344 | T | TACAACTA others(5): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 308 | 0.0032 | 12 | c.3+1 others(25): Show |
VPS29 | ENSG00000111237.19 | transcript | ENST00000549578.6 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
VPS33A_chr12_122224564_122271494 | 122238770 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG02602.hp2 HG02630.hp2 HG03017.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 a0001c0001t0001g0276 a0001c0001t0001g0277 others(2): Show |
5 | 115 | 0.0435 | 12 | c.116 others(27): Show |
VPS33A | ENSG00000139719.11 | transcript | ENST00000267199.9 | protein_coding | 9/12 | chr12 | TogoVar | |||||||
VPS33A_chr12_122224564_122271494 | 122239749 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01496.hp2 HG01993.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0020 | a0001c0001t0002g0015 a0001c0001t0002g0138 a0001c0001t0002g0139 others(12): Show |
16 | 62 | 0.2581 | 12 | c.116 others(29): Show |
VPS33A | ENSG00000139719.11 | transcript | ENST00000267199.9 | protein_coding | 9/12 | chr12 | TogoVar | |||||||
VPS33A_chr12_122224564_122271494 | 122246290 | T | TTTTATTT others(5): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01106.hp1 HG01123.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0271 a0001c0001t0001g0272 others(10): Show |
14 | 317 | 0.0442 | 12 | c.776 others(29): Show |
VPS33A | ENSG00000139719.11 | transcript | ENST00000267199.9 | protein_coding | 6/12 | chr12 | TogoVar | |||||||
VPS33A_chr12_122224564_122271494 | 122248060 | C | CTGTATGT others(5): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02145.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0003t0010 | a0001c0001t0001g0021 a0001c0001t0001g0276 a0001c0001t0001g0284 others(5): Show |
9 | 144 | 0.0625 | 12 | c.775 others(29): Show |
VPS33A | ENSG00000139719.11 | transcript | ENST00000267199.9 | protein_coding | 6/12 | chr12 | TogoVar | |||||||
VPS33A_chr12_122224564_122271494 | 122248060 | C | CTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00673.hp2 HG02257.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0226 a0001c0001t0002g0146 a0001c0001t0002g0148 others(13): Show |
16 | 151 | 0.1060 | 12 | c.775 others(29): Show |
VPS33A | ENSG00000139719.11 | transcript | ENST00000267199.9 | protein_coding | 6/12 | chr12 | TogoVar | |||||||
VPS33B_chr15_90993673_91027594 | 91017365 | T | TAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0215 | 1 | 317 | 0.0032 | 12 | c.178 others(27): Show |
VPS33B | ENSG00000184056.15 | transcript | ENST00000333371.8 | protein_coding | 2/22 | chr15 | TogoVar | |||||||
VPS33B_chr15_90993673_91027594 | 91026979 | C | CTTTTTTT others(5): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 HG02559.hp1 HG02622.hp1 others(3): Show |
a0001a0006 | a0001c0001a0001c0007a0006c0014 | a0001c0001t0001a0001c0007t0001a0006c0014t0001 | a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0007t0001g0012 others(2): Show |
6 | 153 | 0.0392 | 12 | c.-47 others(23): Show |
VPS33B | ENSG00000184056.15 | transcript | ENST00000333371.8 | protein_coding | 4386 | chr15 | TogoVar | |||||||
VPS35L_chr16_19550703_19706163 | 19570834 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG01099.hp1 HG03491.hp1 HG03492.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0153 a0001c0001t0001g0206 a0001c0001t0001g0222 others(1): Show |
4 | 22 | 0.1818 | 12 | c.285 others(29): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19588158 | A | AGTATGTA others(5): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG00738.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0001g0110 a0001c0001t0001g0136 a0001c0001t0001g0195 others(9): Show |
12 | 142 | 0.0845 | 12 | c.640 others(29): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 7/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19615968 | A | AAATAATA others(5): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG01884.hp2 others(19): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0050 a0001c0001t0002g0004 others(19): Show |
22 | 89 | 0.2472 | 12 | c.102 others(29): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 12/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19666927 | T | TCTTCCTT others(5): Show |
intron_variant | MODIFIER | HG03831.hp1 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 a0001c0001t0001g0272 |
2 | 53 | 0.0377 | 12 | c.222 others(31): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 26/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19666927 | T | TCTTTCTT others(5): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00735.hp1 HG02040.hp2 others(3): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0007 | a0001c0001t0001g0051 a0001c0001t0001g0097 a0001c0001t0001g0108 others(3): Show |
6 | 57 | 0.1053 | 12 | c.222 others(31): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 26/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19668591 | A | AGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG01069.hp2 others(52): Show |
a0001 | a0001c0002a0001c0004a0001c0005others(2): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0005others(5): Show | a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0095 others(52): Show |
55 | 183 | 0.3005 | 12 | c.222 others(29): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 26/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35_chr16_46651132_46694178 | 46663862 | A | ATTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02970.hp2 NA18951.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0016a0001c0003t0010 | a0001c0001t0016g0046 a0001c0003t0010g0168 |
2 | 6 | 0.3333 | 12 | c.164 others(29): Show |
VPS35 | ENSG00000069329.19 | transcript | ENST00000299138.12 | protein_coding | 13/16 | chr16 | TogoVar | |||||||
VPS35_chr16_46651132_46694178 | 46691958 | A | ACACACTC others(5): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0139 | 1 | 8 | 0.1250 | 12 | c.-28 others(23): Show |
VPS35 | ENSG00000069329.19 | transcript | ENST00000299138.12 | protein_coding | 2781 | chr16 | TogoVar | |||||||
VPS36_chr13_52407606_52455634 | 52436218 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01256.hp1 HG01433.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 a0001c0001t0001g0082 a0001c0001t0001g0257 others(1): Show |
5 | 126 | 0.0397 | 12 | c.351 others(25): Show |
VPS36 | ENSG00000136100.14 | transcript | ENST00000378060.9 | protein_coding | 4/13 | chr13 | TogoVar | |||||||
VPS36_chr13_52407606_52455634 | 52452963 | C | CTTTTTTT others(5): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(137): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(99): Show |
140 | 295 | 0.4746 | 12 | c.-23 others(23): Show |
VPS36 | ENSG00000136100.14 | transcript | ENST00000378060.9 | protein_coding | 2330 | chr13 | TogoVar | |||||||
VPS37A_chr8_17241958_17303024 | 17256630 | T | TTTTATTT others(5): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02523.hp1 HG02735.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0013others(1): Show | a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0005g0136 others(3): Show |
6 | 101 | 0.0594 | 12 | c.126 others(29): Show |
VPS37A | ENSG00000155975.10 | transcript | ENST00000324849.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS37B_chr12_122860330_122901124 | 122899094 | C | CACACACA others(5): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 258 | 0.0039 | 12 | c.-30 others(23): Show |
VPS37B | ENSG00000139722.7 | transcript | ENST00000267202.7 | protein_coding | 2971 | chr12 | TogoVar | |||||||
VPS37C_chr11_61125257_61166426 | 61127363 | A | AACACATC others(5): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(124): Show |
a0001a0005a0007others(1): Show | a0001c0001a0005c0005a0007c0009others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(100): Show |
127 | 210 | 0.6048 | 12 | c.*44 others(23): Show |
VPS37C | ENSG00000167987.11 | transcript | ENST00000301765.10 | protein_coding | 2893 | chr11 | TogoVar | |||||||
VPS37C_chr11_61125257_61166426 | 61163479 | A | ATTTTTTT others(5): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG02258.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0029 a0001c0001t0001g0084 |
3 | 32 | 0.0938 | 12 | c.-20 others(23): Show |
VPS37C | ENSG00000167987.11 | transcript | ENST00000301765.10 | protein_coding | 2054 | chr11 | TogoVar | |||||||
VPS41_chr7_38717974_38914191 | 38720526 | A | ATGTATGT others(5): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0252 | 1 | 253 | 0.0040 | 12 | c.*57 others(23): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 2447 | chr7 | TogoVar | |||||||
VPS41_chr7_38717974_38914191 | 38720548 | G | GTATATGT others(5): Show |
downstream_gene_variant | MODIFIER | NA18983.hp1 NA19010.hp2 NA19012.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0025a0001c0001t0026 | a0001c0001t0007g0229 a0001c0001t0007g0230 a0001c0001t0025g0228 others(1): Show |
4 | 246 | 0.0163 | 12 | c.*56 others(23): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 2425 | chr7 | TogoVar | |||||||
VPS41_chr7_38717974_38914191 | 38720548 | G | GTATGTAT others(5): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG03688.hp1 NA19001.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0018a0001c0001t0043 | a0001c0001t0003g0091 a0001c0001t0018g0227 a0001c0001t0043g0199 |
3 | 245 | 0.0122 | 12 | c.*56 others(23): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 2425 | chr7 | TogoVar | |||||||
VPS41_chr7_38717974_38914191 | 38720562 | G | GTATATAT others(5): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG02293.hp1 HG03225.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0039a0001c0002t0008 | a0001c0001t0007g0065 a0001c0001t0039g0221 a0001c0002t0008g0004 others(1): Show |
4 | 175 | 0.0229 | 12 | c.*56 others(23): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 2411 | chr7 | TogoVar | |||||||
VPS41_chr7_38717974_38914191 | 38720562 | G | GTGTATAT others(5): Show |
downstream_gene_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0101 | 1 | 172 | 0.0058 | 12 | c.*56 others(23): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 2411 | chr7 | TogoVar | |||||||
VPS41_chr7_38717974_38914191 | 38723723 | C | CAAAAAAA others(5): Show |
3_prime_UTR_variant | MODIFIER | HG01255.hp2 HG01517.hp1 HG02109.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0039a0001c0001t0044others(1): Show | a0001c0001t0007g0055 a0001c0001t0007g0065 a0001c0001t0007g0078 others(8): Show |
11 | 82 | 0.1341 | 12 | c.*25 others(23): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 29/29 | 2522 | chr7 | TogoVar | ||||||
VPS41_chr7_38717974_38914191 | 38724604 | C | CTTTTTTT others(5): Show |
3_prime_UTR_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00735.hp1 others(72): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(18): Show | a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 others(72): Show |
75 | 252 | 0.2976 | 12 | c.*16 others(23): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 29/29 | 1641 | chr7 | TogoVar | ||||||
VPS41_chr7_38717974_38914191 | 38756213 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02922.hp1 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0005t0031 | a0001c0003t0001g0069 a0001c0005t0031g0098 |
2 | 73 | 0.0274 | 12 | c.169 others(29): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 19/28 | chr7 | TogoVar | |||||||
VPS41_chr7_38717974_38914191 | 38860697 | T | TTGTGTGT others(5): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0009 | a0001c0009t0010 | a0001c0009t0010g0178 | 1 | 18 | 0.0556 | 12 | c.246 others(29): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 4/28 | chr7 | TogoVar | |||||||
VPS45_chr1_150062776_150150329 | 150088434 | A | AATAAATA others(5): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03098.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 others(1): Show |
4 | 95 | 0.0421 | 12 | c.110 others(31): Show |
VPS45 | ENSG00000136631.16 | transcript | ENST00000644510.2 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS45_chr1_150062776_150150329 | 150132874 | A | ATGATTAA others(5): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 174 | 0.0057 | 12 | c.162 others(33): Show |
VPS45 | ENSG00000136631.16 | transcript | ENST00000644510.2 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS45_chr1_150062776_150150329 | 150140386 | G | GGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01975.hp1 HG02055.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0027 a0001c0001t0001g0105 a0001c0001t0001g0115 others(4): Show |
7 | 54 | 0.1296 | 12 | c.162 others(31): Show |
VPS45 | ENSG00000136631.16 | transcript | ENST00000644510.2 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS45_chr1_150062776_150150329 | 150145590 | T | TTGTGTGT others(5): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 HG03098.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 others(1): Show |
4 | 26 | 0.1538 | 12 | c.*79 others(21): Show |
VPS45 | ENSG00000136631.16 | transcript | ENST00000644510.2 | protein_coding | 262 | chr1 | TogoVar | |||||||
VPS4A_chr16_69306350_69331939 | 69310070 | G | GTTTTTTT others(5): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG01081.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 35 | 0.0571 | 12 | c.-14 others(23): Show |
VPS4A | ENSG00000132612.16 | transcript | ENST00000254950.13 | protein_coding | 1279 | chr16 | TogoVar | |||||||
VPS4A_chr16_69306350_69331939 | 69323943 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0097 | 1 | 276 | 0.0036 | 12 | c.121 others(29): Show |
VPS4A | ENSG00000132612.16 | transcript | ENST00000254950.13 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
VPS4B_chr18_63384190_63427476 | 63387112 | A | ACACACAC others(5): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 HG01168.hp1 HG01884.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0120 others(3): Show |
12 | 271 | 0.0443 | 12 | c.*38 others(23): Show |
VPS4B | ENSG00000119541.10 | transcript | ENST00000238497.10 | protein_coding | 2077 | chr18 | TogoVar | |||||||
VPS4B_chr18_63384190_63427476 | 63387112 | A | ACACACAC others(5): Show |
downstream_gene_variant | MODIFIER | HG03490.hp2 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0015 |
2 | 261 | 0.0077 | 12 | c.*38 others(23): Show |
VPS4B | ENSG00000119541.10 | transcript | ENST00000238497.10 | protein_coding | 2077 | chr18 | TogoVar | |||||||
VPS50_chr7_93227366_93366123 | 93228864 | G | GGTGTGTG others(5): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0245 | 1 | 143 | 0.0070 | 12 | c.-36 others(23): Show |
VPS50 | ENSG00000004766.17 | transcript | ENST00000305866.10 | protein_coding | 3501 | chr7 | TogoVar | |||||||
VPS50_chr7_93227366_93366123 | 93364410 | T | TCACACAC others(5): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00621.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0034 a0001c0001t0002g0103 a0001c0001t0002g0115 others(14): Show |
17 | 185 | 0.0919 | 12 | c.*59 others(23): Show |
VPS50 | ENSG00000004766.17 | transcript | ENST00000305866.10 | protein_coding | 3288 | chr7 | TogoVar | |||||||
VPS50_chr7_93227366_93366123 | 93364437 | C | CACACACA others(5): Show |
downstream_gene_variant | MODIFIER | HG03516.hp1 NA18906.hp1 NA18975.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0002a0001c0001t0005a0003c0007t0002 | a0001c0001t0002g0295 a0001c0001t0005g0005 a0003c0007t0002g0305 |
4 | 296 | 0.0135 | 12 | c.*60 others(23): Show |
VPS50 | ENSG00000004766.17 | transcript | ENST00000305866.10 | protein_coding | 3315 | chr7 | TogoVar | |||||||
VPS52_chr6_33245278_33276876 | 33256463 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062 | 1 | 43 | 0.0233 | 12 | c.179 others(31): Show |
VPS52 | ENSG00000223501.9 | transcript | ENST00000445902.3 | protein_coding | 17/19 | chr6 | TogoVar |