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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VPS13B_chr8_99008274_99882580 | 99262769 | C | CTGT | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG01891.hp2 others(9): Show |
a0001a0003a0010others(3): Show | a0001c0001a0003c0004a0003c0005others(5): Show | a0001c0001t0002a0003c0004t0001a0003c0005t0004others(5): Show | a0001c0001t0002g0069 a0003c0004t0001g0065 a0003c0004t0001g0066 others(9): Show |
12 | 113 | 0.1062 | 3 | c.251 others(24): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 17/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99271195 | A | AACT | intron_variant | MODIFIER | HG01106.hp2 HG01517.hp1 HG02300.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0021a0002c0003others(2): Show | a0001c0002t0001a0001c0021t0001a0002c0003t0003others(3): Show | a0001c0002t0001g0005 a0001c0002t0001g0013 a0001c0002t0001g0030 others(6): Show |
9 | 67 | 0.1343 | 3 | c.251 others(22): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 17/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99271247 | A | ACTG | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01099.hp2 others(4): Show |
a0001a0003a0009 | a0001c0001a0001c0016a0003c0004others(1): Show | a0001c0001t0002a0001c0016t0004a0003c0004t0001others(1): Show | a0001c0001t0002g0076 a0001c0001t0002g0110 a0001c0001t0002g0117 others(4): Show |
7 | 69 | 0.1014 | 3 | c.251 others(22): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 17/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99303258 | C | CAAA | intron_variant | MODIFIER | HG01515.hp1 HG02145.hp1 HG02895.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0002t0009a0003c0005t0004others(1): Show | a0001c0001t0001g0061 a0001c0002t0009g0045 a0003c0005t0004g0130 others(3): Show |
6 | 52 | 0.1154 | 3 | 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 | 99349332 | C | CAAA | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00597.hp2 others(46): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0010others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(12): Show | a0001c0001t0001g0061 a0001c0001t0001g0073 a0001c0001t0001g0074 others(46): Show |
49 | 95 | 0.5158 | 3 | 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 | 99501941 | T | TTCC | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0003a0015 | a0003c0033a0015c0032 | a0003c0033t0006a0015c0032t0006 | a0003c0033t0006g0134 a0015c0032t0006g0133 |
2 | 132 | 0.0152 | 3 | c.404 others(18): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 26/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99515361 | A | AGCT | intron_variant | MODIFIER | HG01515.hp2 HG01981.hp1 HG02074.hp2 others(2): Show |
a0001a0002a0013 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0002t0001a0002c0003t0003others(2): Show | a0001c0001t0002g0040 a0001c0002t0001g0025 a0002c0003t0003g0086 others(2): Show |
5 | 128 | 0.0391 | 3 | c.463 others(22): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 29/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99515400 | T | TTCC | intron_variant | MODIFIER | HG01106.hp1 HG01243.hp1 HG01884.hp1 others(9): Show |
a0001a0003a0004others(4): Show | a0001c0001a0003c0006a0003c0033others(6): Show | a0001c0001t0001a0001c0001t0004a0003c0006t0004others(7): Show | a0001c0001t0001g0107 a0001c0001t0004g0118 a0003c0006t0004g0109 others(9): Show |
12 | 132 | 0.0909 | 3 | c.463 others(22): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 29/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99558410 | T | TTTA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(59): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0008others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(23): Show | a0001c0001t0001g0107 a0001c0001t0002g0018 a0001c0001t0002g0021 others(59): Show |
62 | 132 | 0.4697 | 3 | c.494 others(22): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 31/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99568276 | C | CTAT | intron_variant | MODIFIER | HG02897.hp2 HG03453.hp1 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0001a0001c0016t0004 | a0001c0001t0001g0064 a0001c0016t0004g0089 |
2 | 88 | 0.0227 | 3 | c.495 others(22): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 31/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99581031 | A | ACAC | intron_variant | MODIFIER | HG01433.hp2 HG01934.hp2 HG01981.hp1 |
a0001a0013 | a0001c0002a0013c0029 | a0001c0002t0001a0013c0029t0003 | a0001c0002t0001g0002 a0001c0002t0001g0006 a0013c0029t0003g0088 |
3 | 131 | 0.0229 | 3 | c.522 others(22): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 33/61 | chr8 | TogoVar | |||||||
VPS13B_chr8_99008274_99882580 | 99619886 | G | GATA | intron_variant | MODIFIER | HG02922.hp2 HG02970.hp1 HG03579.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0008 | a0001c0001t0001g0073 a0001c0001t0001g0074 a0002c0003t0008g0067 |
3 | 77 | 0.0390 | 3 | c.522 others(24): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 33/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99624007 | A | ATAT | intron_variant | MODIFIER | HG00408.hp1 HG00642.hp1 HG01109.hp1 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0074 a0001c0001t0001g0114 a0001c0001t0002g0076 others(10): Show |
13 | 127 | 0.1024 | 3 | c.522 others(24): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 33/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99624008 | T | TATA | intron_variant | MODIFIER | HG01081.hp1 HG01099.hp1 HG01515.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0009others(1): Show | a0001c0001t0001g0107 a0001c0001t0002g0018 a0001c0001t0002g0062 others(2): Show |
5 | 109 | 0.0459 | 3 | c.522 others(24): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 33/61 | chr8 | TogoVar | |||||||
VPS13B_chr8_99008274_99882580 | 99640010 | T | TAAG | intron_variant | MODIFIER | HG00323.hp1 HG01515.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0007 | a0001c0002t0001g0047 a0002c0003t0007g0017 |
2 | 124 | 0.0161 | 3 | c.522 others(22): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 33/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99640013 | T | TAAG | intron_variant | MODIFIER | HG01099.hp1 HG01109.hp1 |
a0001a0009 | a0001c0002a0009c0015 | a0001c0002t0009a0009c0015t0004 | a0001c0002t0009g0015 a0009c0015t0004g0083 |
2 | 115 | 0.0174 | 3 | c.522 others(22): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 33/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99654018 | G | GGAT | intron_variant | MODIFIER | HG01106.hp1 HG01981.hp2 HG03834.hp2 |
a0003 | a0003c0006 | a0003c0006t0004 | a0003c0006t0004g0109 a0003c0006t0004g0127 a0003c0006t0004g0128 |
3 | 132 | 0.0227 | 3 | c.590 others(22): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 34/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99683396 | G | GATT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(53): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0008others(14): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(18): Show | a0001c0001t0002g0021 a0001c0001t0002g0026 a0001c0001t0002g0027 others(53): Show |
56 | 132 | 0.4242 | 3 | c.604 others(24): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 35/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99698745 | T | TTAA | intron_variant | MODIFIER | HG01106.hp1 HG01243.hp1 HG01884.hp1 others(11): Show |
a0003a0004a0010others(3): Show | a0003c0005a0003c0006a0003c0033others(6): Show | a0003c0005t0004a0003c0005t0006a0003c0006t0004others(7): Show | a0003c0005t0004g0130 a0003c0005t0004g0132 a0003c0005t0006g0129 others(11): Show |
14 | 132 | 0.1061 | 3 | c.604 others(20): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 35/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99706157 | A | AACC | intron_variant | MODIFIER | HG02145.hp1 HG02895.hp1 HG02922.hp1 others(1): Show |
a0003 | a0003c0005 | a0003c0005t0004a0003c0005t0006 | a0003c0005t0004g0130 a0003c0005t0004g0132 a0003c0005t0006g0129 others(1): Show |
4 | 132 | 0.0303 | 3 | c.645 others(22): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 36/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99737106 | C | CTTT | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG01109.hp2 others(11): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0011others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0002g0076 others(11): Show |
14 | 30 | 0.4667 | 3 | c.705 others(24): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 39/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99766066 | C | CTTT | intron_variant | MODIFIER | HG00408.hp1 HG01243.hp2 HG03041.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0061 a0001c0001t0001g0114 a0001c0001t0004g0118 others(2): Show |
5 | 53 | 0.0943 | 3 | c.705 others(20): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 39/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99767493 | C | CAAA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(34): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0011others(6): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(9): Show | a0001c0001t0002g0021 a0001c0001t0002g0032 a0001c0001t0002g0051 others(34): Show |
37 | 87 | 0.4253 | 3 | c.724 others(20): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99832341 | A | ATTT | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(25): Show |
a0001a0003a0006others(5): Show | a0001c0002a0003c0005a0003c0006others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0009others(8): Show | a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 others(25): Show |
28 | 78 | 0.3590 | 3 | c.933 others(16): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 51/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99875913 | C | CCAA | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG01496.hp1 HG01515.hp2 others(15): Show |
a0002a0013a0021 | a0002c0003a0002c0018a0013c0029others(1): Show | a0002c0003t0003a0002c0003t0007a0002c0003t0008others(3): Show | a0002c0003t0003g0024 a0002c0003t0003g0036 a0002c0003t0003g0057 others(15): Show |
18 | 132 | 0.1364 | 3 | c.*25 others(12): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 62/62 | 253 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
VPS13B_chr8_99008274_99882580 | 99877183 | A | ATGT | 3_prime_UTR_variant | MODIFIER | HG02965.hp1 HG03579.hp2 |
a0002 | a0002c0003 | a0002c0003t0008 | a0002c0003t0008g0067 a0002c0003t0008g0071 |
2 | 132 | 0.0152 | 3 | c.*15 others(14): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 62/62 | 1523 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
VPS13C_chr15_61847389_62065447 | 61914878 | T | TAAA | intron_variant | MODIFIER | HG00438.hp1 HG02004.hp2 HG02145.hp1 others(4): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0003a0002c0002t0001a0005c0005t0004others(1): Show | a0001c0001t0003g0226 a0001c0001t0003g0229 a0002c0002t0001g0066 others(4): Show |
7 | 123 | 0.0569 | 3 | c.844 others(20): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 61/84 | chr15 | TogoVar | |||||||
VPS13C_chr15_61847389_62065447 | 61968286 | A | AAAC | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG02486.hp2 others(1): Show |
a0013a0023 | a0013c0016a0023c0026 | a0013c0016t0010a0023c0026t0027 | a0013c0016t0010g0009 a0013c0016t0010g0010 a0013c0016t0010g0011 others(1): Show |
4 | 350 | 0.0114 | 3 | c.291 others(20): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 28/84 | chr15 | TogoVar | |||||||
VPS13C_chr15_61847389_62065447 | 62037252 | T | TATA | intron_variant | MODIFIER | HG01070.hp1 HG01175.hp2 HG04199.hp1 |
a0005 | a0005c0005 | a0005c0005t0004 | a0005c0005t0004g0021 a0005c0005t0004g0022 a0005c0005t0004g0023 |
3 | 344 | 0.0087 | 3 | c.188 others(20): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 3/84 | chr15 | TogoVar | |||||||
VPS13C_chr15_61847389_62065447 | 62045277 | C | CTTT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00438.hp1 others(156): Show |
a0002a0003a0004others(15): Show | a0002c0002a0002c0045a0002c0047others(20): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(30): Show | a0002c0002t0001g0002 a0002c0002t0001g0012 a0002c0002t0001g0048 others(153): Show |
159 | 350 | 0.4543 | 3 | c.101 others(20): Show |
VPS13C | ENSG00000129003.19 | transcript | ENST00000644861.2 | protein_coding | 1/84 | chr15 | TogoVar | |||||||
VPS13D_chr1_12225030_12517047 | 12248325 | G | GTTA | intron_variant | MODIFIER | HG03017.hp2 HG03130.hp2 HG03491.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 a0001c0001t0001g0146 a0001c0001t0001g0147 |
3 | 139 | 0.0216 | 3 | c.448 others(18): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 5/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12260015 | C | CTTT | intron_variant | MODIFIER | HG01361.hp1 HG01928.hp1 HG04115.hp1 others(2): Show |
a0001a0018 | a0001c0006a0001c0008a0018c0015 | a0001c0006t0003a0001c0008t0003a0018c0015t0024 | a0001c0006t0003g0009 a0001c0008t0003g0008 a0001c0008t0003g0012 others(2): Show |
5 | 20 | 0.2500 | 3 | c.111 others(20): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 10/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12352965 | C | CAAA | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(14): Show |
a0001a0011 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(9): Show | a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0145 others(14): Show |
17 | 35 | 0.4857 | 3 | c.943 others(20): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12353532 | C | CAAA | intron_variant | MODIFIER | HG01099.hp2 HG01243.hp1 HG01243.hp2 others(11): Show |
a0001a0006 | a0001c0006a0001c0008a0001c0009others(2): Show | a0001c0006t0003a0001c0006t0010a0001c0008t0003others(5): Show | a0001c0006t0003g0004 a0001c0006t0003g0007 a0001c0006t0003g0013 others(11): Show |
14 | 128 | 0.1094 | 3 | c.943 others(20): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12373095 | G | GTTT | intron_variant | MODIFIER | HG01928.hp2 HG01993.hp2 HG02004.hp2 others(15): Show |
a0001a0004a0008others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(12): Show | a0001c0001t0001g0106 a0001c0001t0004g0126 a0001c0001t0006g0130 others(15): Show |
18 | 63 | 0.2857 | 3 | c.108 others(22): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 54/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12381922 | T | TTTC | intron_variant | MODIFIER | HG01243.hp1 HG01361.hp1 HG01433.hp2 others(3): Show |
a0001a0006 | a0001c0006a0001c0008a0006c0025 | a0001c0006t0003a0001c0006t0010a0001c0008t0003others(1): Show | a0001c0006t0003g0009 a0001c0006t0010g0010 a0001c0008t0003g0008 others(3): Show |
6 | 84 | 0.0714 | 3 | c.111 others(24): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 57/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12427240 | A | ATAT | intron_variant | MODIFIER | HG01243.hp2 HG03225.hp1 NA18522.hp1 others(1): Show |
a0001 | a0001c0002a0001c0011a0001c0012 | a0001c0002t0009a0001c0011t0018a0001c0012t0002others(1): Show | a0001c0002t0009g0030 a0001c0011t0018g0015 a0001c0012t0002g0074 others(1): Show |
4 | 125 | 0.0320 | 3 | c.123 others(26): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12427242 | T | TTTA | intron_variant | MODIFIER | HG01099.hp2 HG01255.hp1 HG01361.hp1 others(14): Show |
a0001a0006a0008 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0001others(6): Show | a0001c0001t0001g0037 a0001c0001t0001g0091 a0001c0001t0001g0117 others(14): Show |
17 | 102 | 0.1667 | 3 | c.123 others(26): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 65/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS16_chr20_2835745_2871732 | 2849300 | C | CTTT | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp1 HG02280.hp2 others(12): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0116 a0001c0004t0001g0014 a0001c0004t0001g0032 others(9): Show |
15 | 237 | 0.0633 | 3 | c.53+ others(18): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
VPS26A_chr10_69119178_69179412 | 69127093 | A | ATTT | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG00621.hp2 others(56): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0013others(1): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(49): Show |
59 | 166 | 0.3554 | 3 | c.3+2 others(16): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VPS26A_chr10_69119178_69179412 | 69127727 | C | CTTT | intron_variant | MODIFIER | HG02572.hp2 HG02630.hp2 HG02717.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0026 | a0001c0002t0008g0029 a0001c0002t0008g0031 a0001c0002t0008g0032 others(5): Show |
8 | 101 | 0.0792 | 3 | c.3+3 others(16): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VPS26A_chr10_69119178_69179412 | 69128230 | A | ATTT | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0018a0001c0002t0026 | a0001c0002t0008g0026 a0001c0002t0008g0027 a0001c0002t0008g0028 others(8): Show |
11 | 191 | 0.0576 | 3 | c.3+3 others(16): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VPS26A_chr10_69119178_69179412 | 69149727 | G | GTTT | intron_variant | MODIFIER | HG00423.hp1 HG01891.hp2 HG02132.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097 a0001c0001t0002g0159 a0001c0001t0002g0164 others(2): Show |
5 | 188 | 0.0266 | 3 | c.154 others(20): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VPS26A_chr10_69119178_69179412 | 69153512 | A | ATTT | intron_variant | MODIFIER | HG00621.hp2 HG00673.hp2 HG01257.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0021 | a0001c0001t0005g0008 a0001c0001t0005g0039 a0001c0001t0005g0040 others(20): Show |
24 | 198 | 0.1212 | 3 | c.154 others(20): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VPS26A_chr10_69119178_69179412 | 69164223 | C | CTTT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp2 others(22): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0014 | a0001c0002t0006g0004 a0001c0002t0006g0023 a0001c0002t0006g0276 others(18): Show |
25 | 309 | 0.0809 | 3 | c.658 others(20): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VPS26A_chr10_69119178_69179412 | 69166426 | C | CCTG | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0018a0001c0002t0026 | a0001c0002t0008g0026 a0001c0002t0008g0027 a0001c0002t0008g0028 others(10): Show |
13 | 334 | 0.0389 | 3 | c.727 others(18): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VPS26A_chr10_69119178_69179412 | 69167126 | C | CAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(239): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 others(210): Show |
242 | 321 | 0.7539 | 3 | c.727 others(20): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VPS26A_chr10_69119178_69179412 | 69169243 | C | CATT | intron_variant | MODIFIER | HG01884.hp1 HG02015.hp1 HG02027.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0013a0001c0002t0008others(2): Show | a0001c0001t0001g0191 a0001c0001t0001g0201 a0001c0001t0001g0216 others(15): Show |
19 | 334 | 0.0569 | 3 | c.870 others(18): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VPS26A_chr10_69119178_69179412 | 69173902 | C | CAGG | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp2 others(47): Show |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0006a0001c0002t0008a0001c0002t0014others(5): Show | a0001c0002t0006g0004 a0001c0002t0006g0023 a0001c0002t0006g0276 others(41): Show |
50 | 334 | 0.1497 | 3 | c.*26 others(14): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 9/9 | 2636 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
VPS26A_chr10_69119178_69179412 | 69174630 | A | AAAC | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0018a0001c0002t0026 | a0001c0002t0008g0026 a0001c0002t0008g0027 a0001c0002t0008g0028 others(10): Show |
13 | 334 | 0.0389 | 3 | c.*33 others(14): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 219 | chr10 | TogoVar |