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 | 59801112 | A | ATATATGT others(1): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03516.hp1 NA18942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0233 |
3 | 251 | 0.0120 | 8 | c.715 others(25): Show |
VMP1 | ENSG00000062716.13 | transcript | ENST00000262291.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
VMP1_chr17_59702654_59847255 | 59813974 | A | ATGATTGA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(261): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(261): Show |
264 | 282 | 0.9362 | 8 | c.912 others(25): Show |
VMP1 | ENSG00000062716.13 | transcript | ENST00000262291.9 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
VN1R1_chr19_57449790_57462140 | 57454450 | A | ACTTTCTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00423.hp2 others(169): Show |
a0002a0003 | a0002c0002a0003c0005 | a0002c0002t0001a0002c0002t0003a0002c0002t0006others(1): Show | a0002c0002t0001g0000 a0002c0002t0003g0000 a0002c0002t0006g0000 others(1): Show |
172 | 426 | 0.4038 | 8 | c.*97 others(17): Show |
VN1R1 | ENSG00000178201.5 | transcript | ENST00000321039.5 | protein_coding | 339 | chr19 | TogoVar | |||||||
VN1R1_chr19_57449790_57462140 | 57457933 | A | AGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01070.hp2 others(20): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0000 a0001c0001t0002g0000 a0002c0002t0001g0000 |
23 | 105 | 0.2190 | 8 | c.-14 others(19): Show |
VN1R1 | ENSG00000178201.5 | transcript | ENST00000321039.5 | protein_coding | 794 | chr19 | TogoVar | |||||||
VN1R1_chr19_57449790_57462140 | 57458501 | C | CAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG00735.hp1 HG01081.hp1 others(42): Show |
a0002a0003 | a0002c0002a0003c0005 | a0002c0002t0001a0002c0002t0003a0003c0005t0001 | a0002c0002t0001g0000 a0002c0002t0003g0000 a0003c0005t0001g0000 |
45 | 192 | 0.2344 | 8 | c.-20 others(19): Show |
VN1R1 | ENSG00000178201.5 | transcript | ENST00000321039.5 | protein_coding | 1362 | chr19 | TogoVar | |||||||
VNN1_chr6_132675849_132719055 | 132689270 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02723.hp2 HG02818.hp2 others(8): Show |
a0005a0008a0015 | a0005c0005a0008c0007a0015c0018 | a0005c0005t0010a0005c0005t0014a0005c0005t0020others(4): Show | a0005c0005t0010g0039 a0005c0005t0010g0123 a0005c0005t0014g0121 others(7): Show |
11 | 374 | 0.0294 | 8 | c.118 others(27): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 5/6 | chr6 | TogoVar | |||||||
VNN1_chr6_132675849_132719055 | 132703365 | C | CATAGACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(82): Show |
a0003a0004 | a0003c0003a0003c0012a0004c0004 | a0003c0003t0002a0003c0003t0006a0003c0003t0012others(5): Show | a0003c0003t0002g0001 a0003c0003t0002g0012 a0003c0003t0002g0019 others(26): Show |
85 | 416 | 0.2043 | 8 | c.341 others(25): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 2/6 | chr6 | TogoVar | |||||||
VNN1_chr6_132675849_132719055 | 132717176 | A | AAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(177): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0002a0003c0003others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(38): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(105): Show |
180 | 353 | 0.5099 | 8 | c.-31 others(19): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 3122 | chr6 | TogoVar | |||||||
VOPP1_chr7_55465613_55577502 | 55539899 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG01358.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0004 | a0001c0001t0002g0097 a0001c0002t0001g0190 a0001c0002t0004g0231 others(1): Show |
4 | 44 | 0.0909 | 8 | c.55- others(25): Show |
VOPP1 | ENSG00000154978.13 | transcript | ENST00000285279.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
VOPP1_chr7_55465613_55577502 | 55540398 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00733.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(2): Show | a0001c0001t0001g0021 a0001c0001t0001g0129 a0001c0001t0001g0158 others(22): Show |
25 | 107 | 0.2336 | 8 | c.55- others(25): Show |
VOPP1 | ENSG00000154978.13 | transcript | ENST00000285279.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
VPREB3_chr22_23747743_23759425 | 23754752 | G | GCGCACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG01346.hp2 HG02809.hp1 HG02818.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 5 | 321 | 0.0156 | 8 | c.-39 others(17): Show |
VPREB3 | ENSG00000128218.8 | transcript | ENST00000248948.4 | protein_coding | 328 | chr22 | TogoVar | |||||||
VPREB3_chr22_23747743_23759425 | 23754752 | G | GCGCGCAC others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00609.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 |
23 | 339 | 0.0678 | 8 | c.-39 others(17): Show |
VPREB3 | ENSG00000128218.8 | transcript | ENST00000248948.4 | protein_coding | 328 | chr22 | TogoVar | |||||||
VPREB3_chr22_23747743_23759425 | 23754752 | G | GCGTGCAC others(1): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 HG02717.hp2 HG02895.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 6 | 322 | 0.0186 | 8 | c.-39 others(17): Show |
VPREB3 | ENSG00000128218.8 | transcript | ENST00000248948.4 | protein_coding | 328 | chr22 | TogoVar | |||||||
VPREB3_chr22_23747743_23759425 | 23757980 | C | CTTTTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(75): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0002c0002t0001a0004c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(4): Show |
78 | 240 | 0.3250 | 8 | c.-36 others(19): Show |
VPREB3 | ENSG00000128218.8 | transcript | ENST00000248948.4 | protein_coding | 3556 | chr22 | TogoVar | |||||||
VPS11_chr11_119062818_119086972 | 119069999 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 HG01099.hp1 others(12): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0028 a0001c0001t0001g0132 a0001c0001t0001g0133 others(6): Show |
15 | 68 | 0.2206 | 8 | c.473 others(23): Show |
VPS11 | ENSG00000160695.16 | transcript | ENST00000621676.5 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
VPS11_chr11_119062818_119086972 | 119085172 | C | CTTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG01069.hp1 HG01175.hp2 others(17): Show |
a0001a0004 | a0001c0001a0001c0010a0001c0015others(1): Show | a0001c0001t0001a0001c0010t0001a0001c0015t0001others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0024 others(17): Show |
20 | 56 | 0.3571 | 8 | c.*35 others(19): Show |
VPS11 | ENSG00000160695.16 | transcript | ENST00000621676.5 | protein_coding | 3201 | chr11 | TogoVar | |||||||
VPS13A_chr9_77172534_77426537 | 77206327 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00673.hp1 HG01978.hp1 others(13): Show |
a0001a0003a0010 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0034a0001c0002t0001a0001c0002t0015others(3): Show | a0001c0001t0034g0009 a0001c0002t0001g0254 a0001c0002t0001g0291 others(13): Show |
16 | 190 | 0.0842 | 8 | c.385 others(23): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 5/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77207213 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01106.hp2 HG01123.hp1 others(21): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(10): Show | a0001c0001t0001g0163 a0001c0001t0002g0042 a0001c0001t0002g0047 others(21): Show |
24 | 167 | 0.1437 | 8 | c.385 others(25): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 5/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77207252 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01175.hp2 HG03942.hp2 |
a0001 | a0001c0003a0001c0014 | a0001c0003t0004a0001c0014t0024 | a0001c0003t0004g0346 a0001c0014t0024g0003 a0001c0014t0024g0004 |
3 | 212 | 0.0142 | 8 | c.385 others(25): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 5/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77207252 | T | TATATATT others(1): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02896.hp2 HG02897.hp2 others(1): Show |
a0001 | a0001c0001a0001c0013a0001c0037 | a0001c0001t0013a0001c0013t0017a0001c0037t0035 | a0001c0001t0013g0208 a0001c0013t0017g0197 a0001c0013t0017g0199 others(1): Show |
4 | 213 | 0.0188 | 8 | c.385 others(25): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 5/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77306414 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00639.hp2 HG00673.hp1 others(60): Show |
a0001a0005a0007others(3): Show | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0003a0001c0001t0034a0001c0002t0001others(16): Show | a0001c0001t0003g0286 a0001c0001t0034g0009 a0001c0002t0001g0252 others(60): Show |
63 | 160 | 0.3938 | 8 | c.396 others(27): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 34/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77401329 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01884.hp1 HG02148.hp2 others(5): Show |
a0001 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0002a0001c0005t0005a0001c0005t0031others(2): Show | a0001c0001t0002g0071 a0001c0001t0002g0137 a0001c0005t0005g0035 others(5): Show |
8 | 64 | 0.1250 | 8 | c.919 others(27): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 68/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77411660 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01243.hp2 HG01346.hp2 others(5): Show |
a0001a0005a0016 | a0001c0001a0001c0002a0005c0012others(1): Show | a0001c0001t0007a0001c0002t0001a0005c0012t0019others(1): Show | a0001c0001t0007g0134 a0001c0001t0007g0141 a0001c0001t0007g0211 others(5): Show |
8 | 94 | 0.0851 | 8 | c.947 others(27): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 71/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99044853 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | NA18906.hp2 NA18984.hp2 |
a0001a0019 | a0001c0001a0019c0017 | a0001c0001t0001a0019c0017t0001 | a0001c0001t0001g0107 a0019c0017t0001g0012 |
2 | 13 | 0.1538 | 8 | c.291 others(25): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 3/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99145592 | C | CAAACTAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(44): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0002a0001c0008others(8): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(12): Show | a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0026 others(44): Show |
47 | 132 | 0.3561 | 8 | c.184 others(27): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 13/61 | chr8 | TogoVar | |||||||
VPS13B_chr8_99008274_99882580 | 99216489 | C | CATGAATG others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02523.hp2 |
a0001a0007 | a0001c0001a0007c0014 | a0001c0001t0002a0007c0014t0002 | a0001c0001t0002g0093 a0007c0014t0002g0097 |
2 | 130 | 0.0154 | 8 | c.251 others(29): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 17/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99284720 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02895.hp1 HG02922.hp1 others(1): Show |
a0003 | a0003c0005 | a0003c0005t0004a0003c0005t0006 | a0003c0005t0004g0130 a0003c0005t0004g0132 a0003c0005t0006g0129 others(1): Show |
4 | 129 | 0.0310 | 8 | c.282 others(27): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99284734 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(75): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0010others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0073 others(75): Show |
78 | 132 | 0.5909 | 8 | c.282 others(27): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99289032 | T | TATGAATG others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp2 others(43): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0010others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0084 others(43): Show |
46 | 96 | 0.4792 | 8 | c.282 others(29): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99289062 | T | TGAATGAA others(1): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01978.hp1 NA20129.hp2 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0057 a0002c0003t0003g0100 a0002c0003t0003g0101 |
3 | 132 | 0.0227 | 8 | c.282 others(29): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99303730 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00423.hp2 others(51): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0010others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0061 a0001c0001t0001g0073 a0001c0001t0001g0074 others(51): Show |
54 | 100 | 0.5400 | 8 | c.282 others(29): 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(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG01081.hp2 others(17): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0035a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0073 others(17): Show |
20 | 53 | 0.3774 | 8 | c.282 others(29): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99351431 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0003a0015 | a0003c0033a0015c0032 | a0003c0033t0006a0015c0032t0006 | a0003c0033t0006g0134 a0015c0032t0006g0133 |
2 | 117 | 0.0171 | 8 | c.282 others(29): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99351433 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02976.hp1 |
a0004a0016 | a0004c0022a0016c0024 | a0004c0022t0004a0016c0024t0005 | a0004c0022t0004g0122 a0016c0024t0005g0123 |
2 | 52 | 0.0385 | 8 | c.282 others(29): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99358002 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 NA18522.hp2 |
a0003 | a0003c0004a0003c0007 | a0003c0004t0001a0003c0007t0005 | a0003c0004t0001g0112 a0003c0007t0005g0049 |
2 | 52 | 0.0385 | 8 | c.282 others(29): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99418455 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01496.hp1 HG02165.hp2 others(1): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0003a0003c0007others(1): Show | a0001c0002t0001a0002c0003t0003a0003c0007t0005others(1): Show | a0001c0002t0001g0047 a0002c0003t0003g0100 a0003c0007t0005g0049 others(1): Show |
4 | 52 | 0.0769 | 8 | c.308 others(29): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 21/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99448121 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG02074.hp1 HG02451.hp2 HG03041.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0018others(1): Show | a0001c0001t0002a0001c0002t0001a0002c0018t0003others(1): Show | a0001c0001t0002g0051 a0001c0001t0002g0094 a0001c0002t0001g0079 others(2): Show |
5 | 53 | 0.0943 | 8 | c.344 others(27): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 23/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99501896 | G | GTCCCTCC others(1): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01884.hp1 HG01891.hp1 others(6): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0021a0003c0006others(4): Show | a0001c0001t0001a0001c0021t0001a0003c0006t0004others(4): Show | a0001c0001t0001g0107 a0001c0021t0001g0121 a0003c0006t0004g0109 others(6): Show |
9 | 77 | 0.1169 | 8 | c.404 others(23): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 26/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99580984 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01256.hp1 HG02895.hp1 |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0005 | a0001c0001t0002a0002c0003t0003a0003c0005t0004 | a0001c0001t0002g0052 a0002c0003t0003g0024 a0003c0005t0004g0130 |
3 | 20 | 0.1500 | 8 | c.522 others(27): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 33/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99633806 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01517.hp2 HG01981.hp2 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0002t0002a0002c0003t0003others(3): Show | a0001c0001t0001g0064 a0001c0002t0002g0046 a0002c0003t0003g0057 others(8): Show |
11 | 12 | 0.9167 | 8 | c.522 others(27): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 33/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99708849 | C | CTCTCTAT others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03834.hp2 NA19064.hp1 |
a0003a0004a0021 | a0003c0006a0004c0022a0021c0026 | a0003c0006t0004a0004c0022t0004a0021c0026t0003 | a0003c0006t0004g0128 a0004c0022t0004g0122 a0021c0026t0003g0126 |
3 | 26 | 0.1154 | 8 | c.645 others(27): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 36/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99708849 | C | CTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02976.hp1 |
a0003a0016 | a0003c0006a0016c0024 | a0003c0006t0004a0016c0024t0005 | a0003c0006t0004g0127 a0016c0024t0005g0123 |
2 | 25 | 0.0800 | 8 | c.645 others(27): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 36/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13C_chr15_61847389_62065447 | 61858317 | A | ACTATCTA others(1): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02976.hp1 HG03516.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0003a0004c0004t0008 | a0001c0001t0003g0172 a0001c0001t0003g0255 a0001c0001t0003g0336 others(2): Show |
5 | 109 | 0.0459 | 8 | c.109 others(29): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 82/84 | chr15 | TogoVar | |||||||
VPS13C_chr15_61847389_62065447 | 61914878 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02257.hp2 others(4): Show |
a0006a0007 | a0006c0006a0007c0007a0007c0020 | a0006c0006t0005a0007c0007t0001a0007c0020t0001 | a0006c0006t0005g0211 a0007c0007t0001g0177 a0007c0007t0001g0181 others(4): Show |
7 | 123 | 0.0569 | 8 | c.844 others(25): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 61/84 | chr15 | TogoVar | |||||||
VPS13C_chr15_61847389_62065447 | 61996990 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01256.hp2 others(5): Show |
a0004a0007a0032 | a0004c0004a0007c0007a0032c0051 | a0004c0004t0001a0007c0007t0001a0032c0051t0001 | a0004c0004t0001g0032 a0004c0004t0001g0034 a0004c0004t0001g0036 others(5): Show |
8 | 325 | 0.0246 | 8 | c.135 others(27): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 16/84 | chr15 | TogoVar | |||||||
VPS13C_chr15_61847389_62065447 | 61996998 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG02698.hp1 HG03834.hp2 HG03927.hp2 |
a0024a0028a0029 | a0024c0036a0028c0054a0029c0041 | a0024c0036t0001a0028c0054t0015a0029c0041t0015 | a0024c0036t0001g0230 a0028c0054t0015g0222 a0029c0041t0015g0223 |
3 | 267 | 0.0112 | 8 | c.135 others(27): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 16/84 | chr15 | TogoVar | |||||||
VPS13C_chr15_61847389_62065447 | 62012221 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02451.hp2 HG02622.hp1 others(2): Show |
a0004a0005a0039 | a0004c0009a0005c0005a0039c0053 | a0004c0009t0001a0005c0005t0004a0039c0053t0004 | a0004c0009t0001g0197 a0004c0009t0001g0198 a0004c0009t0001g0199 others(2): Show |
5 | 131 | 0.0382 | 8 | c.826 others(21): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 11/84 | chr15 | TogoVar | |||||||
VPS13D_chr1_12225030_12517047 | 12310857 | T | TTCCTTCC others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01071.hp2 HG01109.hp2 others(18): Show |
a0001a0008a0013 | a0001c0001a0001c0002a0008c0026others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0097 others(18): Show |
21 | 130 | 0.1615 | 8 | c.665 others(25): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12310912 | C | CCTCCCTC others(1): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01109.hp1 HG01243.hp2 others(13): Show |
a0001a0003a0006others(2): Show | a0001c0002a0001c0006a0001c0009others(6): Show | a0001c0002t0007a0001c0006t0003a0001c0009t0004others(8): Show | a0001c0002t0007g0066 a0001c0006t0003g0004 a0001c0006t0003g0013 others(13): Show |
16 | 87 | 0.1839 | 8 | c.665 others(25): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 27/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12367553 | A | AATTTATT others(1): Show |
intron_variant | MODIFIER | HG01256.hp1 HG02717.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0020a0001c0003t0005 | a0001c0001t0020g0078 a0001c0003t0005g0053 |
2 | 79 | 0.0253 | 8 | c.104 others(27): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |