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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VOPP1_chr7_55465613_55577502 | 55505651 | A | AAGGGAGG others(5): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02257.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0307 a0001c0002t0001g0308 |
2 | 20 | 0.1000 | 12 | c.114 others(29): Show |
VOPP1 | ENSG00000154978.13 | transcript | ENST00000285279.10 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
VOPP1_chr7_55465613_55577502 | 55505651 | A | AAGGGAGG others(5): Show |
intron_variant | MODIFIER | HG02965.hp2 NA18906.hp1 NA20129.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 a0001c0002t0001g0299 a0001c0002t0001g0301 |
3 | 21 | 0.1429 | 12 | c.114 others(29): Show |
VOPP1 | ENSG00000154978.13 | transcript | ENST00000285279.10 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
VOPP1_chr7_55465613_55577502 | 55539899 | G | GCACACAC others(5): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0250 | 1 | 41 | 0.0244 | 12 | c.55- others(29): Show |
VOPP1 | ENSG00000154978.13 | transcript | ENST00000285279.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
VOPP1_chr7_55465613_55577502 | 55540398 | A | AAAATAAA others(5): Show |
intron_variant | MODIFIER | HG01358.hp2 HG01891.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 a0001c0001t0003g0056 a0001c0001t0003g0059 |
3 | 85 | 0.0353 | 12 | c.55- others(29): Show |
VOPP1 | ENSG00000154978.13 | transcript | ENST00000285279.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
VOPP1_chr7_55465613_55577502 | 55564231 | C | CTCTCTGT others(5): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0009 | 1 | 316 | 0.0032 | 12 | c.54+ others(27): Show |
VOPP1 | ENSG00000154978.13 | transcript | ENST00000285279.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
VOPP1_chr7_55465613_55577502 | 55564243 | G | GTCTCTCT others(5): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01981.hp1 HG03710.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0260 a0001c0001t0002g0076 a0001c0001t0002g0077 others(6): Show |
9 | 51 | 0.1765 | 12 | c.54+ others(27): Show |
VOPP1 | ENSG00000154978.13 | transcript | ENST00000285279.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
VPREB3_chr22_23747743_23759425 | 23754752 | G | GCGCGCAC others(5): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG02056.hp2 NA18960.hp1 others(5): Show |
a0001a0006 | a0001c0001a0006c0004 | a0001c0001t0001a0006c0004t0001 | a0001c0001t0001g0002 a0006c0004t0001g0029 |
8 | 324 | 0.0247 | 12 | c.-39 others(21): Show |
VPREB3 | ENSG00000128218.8 | transcript | ENST00000248948.4 | protein_coding | 328 | chr22 | TogoVar | |||||||
VPREB3_chr22_23747743_23759425 | 23754752 | G | GCGCGCGC others(5): Show |
upstream_gene_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 317 | 0.0032 | 12 | c.-39 others(21): Show |
VPREB3 | ENSG00000128218.8 | transcript | ENST00000248948.4 | protein_coding | 328 | chr22 | TogoVar | |||||||
VPREB3_chr22_23747743_23759425 | 23754752 | G | GCGCGCGC others(5): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 317 | 0.0032 | 12 | c.-39 others(21): Show |
VPREB3 | ENSG00000128218.8 | transcript | ENST00000248948.4 | protein_coding | 328 | chr22 | TogoVar | |||||||
VPS11_chr11_119062818_119086972 | 119069999 | A | AAAATAAA others(5): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01256.hp2 HG01258.hp2 others(17): Show |
a0001a0010 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(3): Show | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0165 others(12): Show |
20 | 73 | 0.2740 | 12 | c.473 others(27): Show |
VPS11 | ENSG00000160695.16 | transcript | ENST00000621676.5 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77206327 | T | TTATATAT others(5): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0008 | a0008c0017 | a0008c0017t0001 | a0008c0017t0001g0329 | 1 | 175 | 0.0057 | 12 | c.385 others(27): 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(5): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(24): Show |
a0001 | a0001c0001a0001c0003a0001c0039 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(8): Show | a0001c0001t0002g0038 a0001c0001t0002g0050 a0001c0001t0002g0055 others(24): Show |
27 | 170 | 0.1588 | 12 | c.385 others(29): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 5/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77207213 | T | TTTTATAT others(5): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02809.hp2 |
a0001a0004 | a0001c0028a0004c0009 | a0001c0028t0050a0004c0009t0011 | a0001c0028t0050g0148 a0004c0009t0011g0180 |
2 | 145 | 0.0138 | 12 | c.385 others(29): 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(5): Show |
intron_variant | MODIFIER | HG02015.hp1 NA19240.hp2 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0013a0001c0013t0017 | a0001c0001t0013g0205 a0001c0013t0017g0198 |
2 | 211 | 0.0095 | 12 | c.385 others(29): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 5/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77306401 | A | AGAGAGAG others(5): Show |
intron_variant | MODIFIER | HG01255.hp2 HG03486.hp1 |
a0001 | a0001c0008 | a0001c0008t0010 | a0001c0008t0010g0191 a0001c0008t0010g0192 |
2 | 328 | 0.0061 | 12 | c.396 others(31): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 34/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77306414 | T | TTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG02300.hp1 HG02886.hp2 HG03927.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0162 a0001c0002t0001g0073 a0001c0002t0001g0289 others(2): Show |
5 | 102 | 0.0490 | 12 | c.396 others(31): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 34/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77341691 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02897.hp1 HG03486.hp1 |
a0001 | a0001c0008a0001c0016 | a0001c0008t0010a0001c0016t0004 | a0001c0008t0010g0191 a0001c0016t0004g0213 |
2 | 58 | 0.0345 | 12 | c.702 others(31): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 50/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77400223 | A | ATTTTTTT others(5): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01243.hp2 HG02015.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0013 | a0001c0001t0007g0097 a0001c0001t0007g0134 a0001c0001t0007g0140 others(3): Show |
6 | 129 | 0.0465 | 12 | c.919 others(31): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 68/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77401329 | T | TTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG01167.hp2 HG03579.hp2 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0004a0001c0005t0005 | a0001c0003t0004g0240 a0001c0005t0005g0032 |
2 | 58 | 0.0345 | 12 | c.919 others(31): 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(5): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02486.hp1 HG02717.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0005 | a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0006t0005g0013 |
3 | 89 | 0.0337 | 12 | c.947 others(31): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 71/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77414739 | T | TTAATAAT others(5): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01123.hp2 HG01175.hp1 others(20): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0044others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(6): Show | a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0002g0043 others(20): Show |
23 | 94 | 0.2447 | 12 | c.947 others(31): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 71/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99029781 | A | AAGAGGGA others(5): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0130 | 1 | 132 | 0.0076 | 12 | c.148 others(29): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 2/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99262769 | C | CTGTTGTT others(5): Show |
intron_variant | MODIFIER | HG00738.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0005 | a0001c0001t0001g0107 a0001c0010t0005g0048 |
2 | 103 | 0.0194 | 12 | c.251 others(33): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 17/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99270131 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01109.hp2 HG01517.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0011t0002others(2): Show | a0001c0001t0002g0027 a0001c0002t0001g0003 a0001c0002t0001g0020 others(8): Show |
11 | 26 | 0.4231 | 12 | c.251 others(31): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 17/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99289032 | T | TATGAATG others(5): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01099.hp2 HG02040.hp2 others(2): Show |
a0001a0002a0017 | a0001c0001a0002c0003a0017c0031 | a0001c0001t0002a0002c0003t0003a0017c0031t0006 | a0001c0001t0002g0076 a0001c0001t0002g0110 a0002c0003t0003g0080 others(2): Show |
5 | 55 | 0.0909 | 12 | c.282 others(33): 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(5): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02970.hp2 HG03130.hp1 others(1): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0003c0006others(1): Show | a0001c0001t0001a0001c0002t0001a0003c0006t0004others(1): Show | a0001c0001t0001g0116 a0001c0002t0001g0068 a0003c0006t0004g0109 others(1): Show |
4 | 37 | 0.1081 | 12 | c.282 others(33): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99354266 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 24 | 0.0417 | 12 | c.282 others(33): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99360120 | A | ATCTTTCT others(5): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0039 | 1 | 94 | 0.0106 | 12 | c.282 others(33): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99378134 | G | GCCCCCCC others(5): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0003 | a0003c0005 | a0003c0005t0006 | a0003c0005t0006g0131 | 1 | 18 | 0.0556 | 12 | c.282 others(31): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99501896 | G | GTCCCTCC others(5): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02970.hp2 HG03195.hp2 others(1): Show |
a0001a0005 | a0001c0008a0005c0009 | a0001c0008t0005a0005c0009t0004a0005c0009t0006 | a0001c0008t0005g0124 a0001c0008t0005g0125 a0005c0009t0004g0120 others(1): Show |
4 | 72 | 0.0556 | 12 | c.404 others(27): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 26/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99623994 | C | CATACATA others(5): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00597.hp1 others(15): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0008others(5): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(6): Show | a0001c0001t0002g0027 a0001c0001t0002g0040 a0001c0001t0002g0041 others(15): Show |
18 | 65 | 0.2769 | 12 | c.522 others(33): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 33/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99623994 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01891.hp1 HG02976.hp1 others(1): Show |
a0003a0004a0016others(1): Show | a0003c0006a0004c0022a0016c0024others(1): Show | a0003c0006t0004a0004c0022t0004a0016c0024t0005others(1): Show | a0003c0006t0004g0109 a0004c0022t0004g0122 a0016c0024t0005g0123 others(1): Show |
4 | 51 | 0.0784 | 12 | c.522 others(33): 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(5): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00738.hp2 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0002a0001c0002t0001a0002c0003t0007others(3): Show | a0001c0001t0002g0027 a0001c0002t0001g0005 a0001c0002t0001g0008 others(7): Show |
10 | 11 | 0.9091 | 12 | c.522 others(31): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 33/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99657470 | T | TTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG01934.hp1 HG01978.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0003 | a0001c0001t0002g0098 a0002c0003t0003g0101 |
2 | 44 | 0.0455 | 12 | c.590 others(31): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 34/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99763135 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0065 | 1 | 63 | 0.0159 | 12 | c.705 others(31): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 39/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99763163 | A | AAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03453.hp2 NA18522.hp2 |
a0003 | a0003c0004a0003c0007 | a0003c0004t0001a0003c0007t0005 | a0003c0004t0001g0090 a0003c0007t0005g0049 a0003c0007t0005g0060 |
3 | 131 | 0.0229 | 12 | c.705 others(31): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 39/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99831068 | G | GTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0008 | 1 | 132 | 0.0076 | 12 | c.933 others(31): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 51/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99831076 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(52): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0016a0002c0003others(9): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0009others(13): Show | a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 others(52): Show |
55 | 115 | 0.4783 | 12 | c.933 others(31): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 51/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13C_chr15_61847389_62065447 | 61873959 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01175.hp2 HG02572.hp2 others(8): Show |
a0005a0023 | a0005c0005a0023c0026 | a0005c0005t0004a0023c0026t0027 | a0005c0005t0004g0020 a0005c0005t0004g0021 a0005c0005t0004g0022 others(8): Show |
11 | 234 | 0.0470 | 12 | c.104 others(31): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 77/84 | chr15 | TogoVar | |||||||
VPS13C_chr15_61847389_62065447 | 61923861 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | NA18747.hp1 NA18968.hp2 NA18973.hp1 others(1): Show |
a0005 | a0005c0005 | a0005c0005t0004 | a0005c0005t0004g0200 a0005c0005t0004g0202 a0005c0005t0004g0205 others(1): Show |
4 | 103 | 0.0388 | 12 | c.661 others(31): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 53/84 | chr15 | TogoVar | |||||||
VPS13C_chr15_61847389_62065447 | 61996990 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02602.hp2 NA18988.hp2 others(3): Show |
a0004a0041 | a0004c0004a0041c0050 | a0004c0004t0001a0004c0004t0008a0041c0050t0001 | a0004c0004t0001g0029 a0004c0004t0001g0035 a0004c0004t0001g0037 others(3): Show |
6 | 323 | 0.0186 | 12 | c.135 others(31): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 16/84 | chr15 | TogoVar | |||||||
VPS13C_chr15_61847389_62065447 | 61996998 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG02027.hp1 HG04204.hp2 NA19000.hp2 others(5): Show |
a0001a0006 | a0001c0001a0006c0006a0006c0017 | a0001c0001t0003a0006c0006t0005a0006c0017t0005 | a0001c0001t0003g0210 a0006c0006t0005g0209 a0006c0006t0005g0211 others(5): Show |
8 | 272 | 0.0294 | 12 | c.135 others(31): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 16/84 | chr15 | TogoVar | |||||||
VPS13D_chr1_12225030_12517047 | 12367553 | A | AATTTATT others(5): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03579.hp1 HG06807.hp1 |
a0001a0003 | a0001c0009a0003c0007 | a0001c0009t0004a0001c0009t0008a0003c0007t0007 | a0001c0009t0004g0018 a0001c0009t0008g0017 a0003c0007t0007g0154 |
3 | 80 | 0.0375 | 12 | c.104 others(31): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 52/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12381922 | T | TTTTCTTT others(5): Show |
intron_variant | MODIFIER | HG03098.hp2 NA18971.hp2 NA19001.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0002a0001c0002t0004others(1): Show | a0001c0001t0002g0064 a0001c0002t0002g0024 a0001c0002t0004g0047 others(1): Show |
4 | 82 | 0.0488 | 12 | c.111 others(32): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12395996 | G | GATATATA others(5): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01993.hp2 HG02004.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0012 | a0001c0001t0006g0130 a0001c0001t0006g0131 a0001c0001t0012g0119 |
3 | 108 | 0.0278 | 12 | c.116 others(33): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12396029 | A | ATATATAT others(5): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0031 | 1 | 74 | 0.0135 | 12 | c.116 others(33): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | TogoVar | |||||||
VPS13D_chr1_12225030_12517047 | 12396029 | A | ATATATAT others(5): Show |
intron_variant | MODIFIER | HG03492.hp2 NA18947.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0010a0001c0006t0003 | a0001c0001t0010g0120 a0001c0006t0003g0009 |
2 | 75 | 0.0267 | 12 | c.116 others(33): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 60/69 | chr1 | TogoVar | |||||||
VPS13D_chr1_12225030_12517047 | 12400962 | G | GCACACAC others(5): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0006 | a0001c0006t0010 | a0001c0006t0010g0010 | 1 | 54 | 0.0185 | 12 | c.117 others(31): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12400962 | G | GCGCACGC others(5): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0009 | a0001c0009t0008 | a0001c0009t0008g0017 | 1 | 54 | 0.0185 | 12 | c.117 others(31): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 61/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS16_chr20_2835745_2871732 | 2854238 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01496.hp1 HG02486.hp2 others(12): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0134 others(10): Show |
15 | 144 | 0.1042 | 12 | c.54- others(27): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |