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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VPS26A_chr10_69119178_69179412 | 69176543 | T | TCTC | 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.*52 others(14): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 2132 | chr10 | TogoVar | |||||||
VPS28_chr8_144418617_144433548 | 144423475 | T | TGAG | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00609.hp1 HG00639.hp1 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(6): Show |
61 | 406 | 0.1502 | 3 | c.*32 others(12): Show |
VPS28 | ENSG00000160948.14 | transcript | ENST00000292510.6 | protein_coding | 141 | chr8 | TogoVar | |||||||
VPS33A_chr12_122224564_122271494 | 122262603 | C | CTTT | intron_variant | MODIFIER | HG00735.hp2 HG01106.hp1 HG01123.hp2 others(32): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(28): Show |
35 | 173 | 0.2023 | 3 | c.296 others(18): Show |
VPS33A | ENSG00000139719.11 | transcript | ENST00000267199.9 | protein_coding | 3/12 | chr12 | TogoVar | |||||||
VPS33A_chr12_122224564_122271494 | 122268695 | C | CTTT | upstream_gene_variant | MODIFIER | HG00621.hp2 NA18941.hp1 NA18974.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0303 a0001c0001t0006g0304 a0001c0001t0006g0305 others(4): Show |
7 | 158 | 0.0443 | 3 | c.-22 others(14): Show |
VPS33A | ENSG00000139719.11 | transcript | ENST00000267199.9 | protein_coding | 2202 | chr12 | TogoVar | |||||||
VPS33B_chr15_90993673_91027594 | 91004236 | A | AAAG | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(89): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0010a0001c0017others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(58): Show |
92 | 323 | 0.2848 | 3 | c.122 others(20): Show |
VPS33B | ENSG00000184056.15 | transcript | ENST00000333371.8 | protein_coding | 16/22 | chr15 | TogoVar | |||||||
VPS33B_chr15_90993673_91027594 | 91022836 | C | CAAA | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(57): Show |
a0001a0004a0006 | a0001c0001a0001c0005a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(39): Show |
60 | 112 | 0.5357 | 3 | c.-58 others(12): Show |
VPS33B | ENSG00000184056.15 | transcript | ENST00000333371.8 | protein_coding | 243 | chr15 | TogoVar | |||||||
VPS33B_chr15_90993673_91027594 | 91026979 | C | CTTT | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG02145.hp1 others(21): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(6): Show | a0001c0001t0001g0017 a0001c0001t0002g0246 a0001c0001t0008g0245 others(14): Show |
24 | 171 | 0.1404 | 3 | c.-47 others(14): Show |
VPS33B | ENSG00000184056.15 | transcript | ENST00000333371.8 | protein_coding | 4386 | chr15 | TogoVar | |||||||
VPS35L_chr16_19550703_19706163 | 19594644 | C | CAAA | intron_variant | MODIFIER | HG00738.hp1 HG01074.hp1 HG01081.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0216 a0001c0001t0001g0248 a0001c0001t0001g0260 others(10): Show |
13 | 141 | 0.0922 | 3 | c.724 others(20): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 8/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19606558 | A | AGTT | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG01891.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0003g0275 others(17): Show |
20 | 282 | 0.0709 | 3 | c.785 others(20): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 9/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19615968 | A | AAAT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(146): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0028 others(146): Show |
149 | 216 | 0.6898 | 3 | c.102 others(20): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 12/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19623765 | A | ATTT | intron_variant | MODIFIER | HG02572.hp1 HG03130.hp2 NA18906.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0182 a0001c0001t0002g0004 a0001c0001t0002g0188 others(1): Show |
4 | 281 | 0.0142 | 3 | c.122 others(22): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 14/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19623766 | T | TTTA | intron_variant | MODIFIER | HG00558.hp2 HG01358.hp1 HG02572.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(1): Show | a0001c0001t0001g0043 a0001c0001t0001g0136 a0001c0001t0001g0162 others(3): Show |
6 | 201 | 0.0299 | 3 | c.122 others(22): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 14/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19663669 | C | CTTT | intron_variant | MODIFIER | HG02135.hp2 HG02559.hp2 HG02622.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0008t0002others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0174 others(8): Show |
11 | 98 | 0.1122 | 3 | c.222 others(22): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 26/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19674184 | C | CTTT | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp2 HG00733.hp2 others(20): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0002t0005a0001c0007t0001others(1): Show | a0001c0002t0001g0008 a0001c0002t0001g0012 a0001c0002t0001g0019 others(20): Show |
23 | 172 | 0.1337 | 3 | c.236 others(22): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 27/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19674955 | C | CTTT | intron_variant | MODIFIER | HG01346.hp2 HG02145.hp2 HG02257.hp2 others(4): Show |
a0001a0002 | a0001c0002a0002c0014 | a0001c0002t0001a0001c0002t0002a0002c0014t0002 | a0001c0002t0001g0002 a0001c0002t0001g0016 a0001c0002t0001g0053 others(4): Show |
7 | 229 | 0.0306 | 3 | c.236 others(22): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 27/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35_chr16_46651132_46694178 | 46660189 | G | GTTT | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(93): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0010 others(80): Show |
96 | 123 | 0.7805 | 3 | c.*28 others(12): Show |
VPS35 | ENSG00000069329.19 | transcript | ENST00000299138.12 | protein_coding | 17/17 | 282 | chr16 | TogoVar | ||||||
VPS35_chr16_46651132_46694178 | 46676065 | C | CAAA | intron_variant | MODIFIER | HG01123.hp2 HG02055.hp2 HG02486.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0019 | a0001c0001t0001g0011 a0001c0001t0001g0137 a0001c0001t0001g0138 others(4): Show |
9 | 25 | 0.3600 | 3 | c.914 others(18): Show |
VPS35 | ENSG00000069329.19 | transcript | ENST00000299138.12 | protein_coding | 8/16 | chr16 | TogoVar | |||||||
VPS35_chr16_46651132_46694178 | 46693828 | T | TTTA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00733.hp1 others(35): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0001c0001t0005a0001c0001t0015others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0011 others(21): Show |
38 | 211 | 0.1801 | 3 | c.-46 others(14): Show |
VPS35 | ENSG00000069329.19 | transcript | ENST00000299138.12 | protein_coding | 4651 | chr16 | TogoVar | |||||||
VPS36_chr13_52407606_52455634 | 52445939 | C | CAAA | intron_variant | MODIFIER | HG00609.hp2 HG00741.hp2 HG01109.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 others(12): Show |
15 | 104 | 0.1442 | 3 | c.97- others(18): Show |
VPS36 | ENSG00000136100.14 | transcript | ENST00000378060.9 | protein_coding | 1/13 | chr13 | TogoVar | |||||||
VPS37A_chr8_17241958_17303024 | 17252333 | T | TTTG | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG03491.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0011 a0001c0001t0006g0064 a0001c0001t0006g0065 |
4 | 382 | 0.0105 | 3 | c.125 others(20): Show |
VPS37A | ENSG00000155975.10 | transcript | ENST00000324849.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS37A_chr8_17241958_17303024 | 17256290 | A | ATTT | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(49): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0311 others(48): Show |
52 | 130 | 0.4000 | 3 | c.125 others(20): Show |
VPS37A | ENSG00000155975.10 | transcript | ENST00000324849.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS37A_chr8_17241958_17303024 | 17273023 | C | CTTT | intron_variant | MODIFIER | HG00558.hp1 HG01109.hp2 HG01516.hp2 others(32): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(5): Show | a0001c0001t0002g0295 a0001c0001t0002g0297 a0001c0001t0002g0298 others(30): Show |
35 | 291 | 0.1203 | 3 | c.417 others(20): Show |
VPS37A | ENSG00000155975.10 | transcript | ENST00000324849.9 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS37A_chr8_17241958_17303024 | 17297464 | A | AATT | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00741.hp1 HG01069.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0007 a0001c0001t0006g0011 a0001c0001t0006g0012 others(7): Show |
14 | 382 | 0.0366 | 3 | c.*24 others(14): Show |
VPS37A | ENSG00000155975.10 | transcript | ENST00000324849.9 | protein_coding | 12/12 | 11041 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
VPS37A_chr8_17241958_17303024 | 17297556 | C | CTAT | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(204): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(29): Show | a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 others(183): Show |
207 | 382 | 0.5419 | 3 | c.*25 others(14): Show |
VPS37A | ENSG00000155975.10 | transcript | ENST00000324849.9 | protein_coding | 12/12 | 11134 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
VPS37A_chr8_17241958_17303024 | 17299770 | C | CCAT | downstream_gene_variant | MODIFIER | HG01099.hp1 HG02572.hp2 HG03453.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0019a0001c0001t0046a0001c0004t0019 | a0001c0001t0019g0157 a0001c0001t0046g0334 a0001c0004t0019g0158 |
3 | 382 | 0.0079 | 3 | c.*47 others(14): Show |
VPS37A | ENSG00000155975.10 | transcript | ENST00000324849.9 | protein_coding | 1747 | chr8 | TogoVar | |||||||
VPS37A_chr8_17241958_17303024 | 17302703 | A | ACCC | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00597.hp1 others(58): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(22): Show | a0001c0001t0003g0017 a0001c0001t0003g0077 a0001c0001t0003g0079 others(55): Show |
61 | 129 | 0.4729 | 3 | c.*77 others(14): Show |
VPS37A | ENSG00000155975.10 | transcript | ENST00000324849.9 | protein_coding | 4680 | chr8 | TogoVar | |||||||
VPS37B_chr12_122860330_122901124 | 122863893 | A | AGAT | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00438.hp1 others(61): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0006a0001c0001t0015others(3): Show | a0001c0001t0002g0012 a0001c0001t0002g0018 a0001c0001t0002g0020 others(54): Show |
64 | 264 | 0.2424 | 3 | c.*32 others(14): Show |
VPS37B | ENSG00000139722.7 | transcript | ENST00000267202.7 | protein_coding | 1436 | chr12 | TogoVar | |||||||
VPS37B_chr12_122860330_122901124 | 122869877 | G | GGAC | intron_variant | MODIFIER | HG02055.hp2 HG02451.hp2 HG02486.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 a0001c0001t0004g0145 a0001c0001t0004g0146 |
7 | 264 | 0.0265 | 3 | c.283 others(20): Show |
VPS37B | ENSG00000139722.7 | transcript | ENST00000267202.7 | protein_coding | 2/3 | chr12 | TogoVar | |||||||
VPS37B_chr12_122860330_122901124 | 122892005 | T | TGAA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(189): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(139): Show |
192 | 264 | 0.7273 | 3 | c.111 others(20): Show |
VPS37B | ENSG00000139722.7 | transcript | ENST00000267202.7 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
VPS37C_chr11_61125257_61166426 | 61139745 | T | TTTG | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(119): Show |
a0001a0005a0007others(2): Show | a0001c0001a0005c0005a0007c0009others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(95): Show |
122 | 210 | 0.5810 | 3 | c.-6- others(16): Show |
VPS37C | ENSG00000167987.11 | transcript | ENST00000301765.10 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
VPS39_chr15_42153701_42213304 | 42170741 | A | ATTT | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(62): Show |
a0001a0002 | a0001c0001a0001c0008a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0018others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0015 others(49): Show |
65 | 133 | 0.4887 | 3 | c.109 others(20): Show |
VPS39 | ENSG00000166887.16 | transcript | ENST00000318006.10 | protein_coding | 11/24 | chr15 | TogoVar | |||||||
VPS39_chr15_42153701_42213304 | 42184054 | C | CAAA | intron_variant | MODIFIER | HG00642.hp1 HG01168.hp2 HG01981.hp2 others(8): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0002t0019a0001c0003t0004 | a0001c0002t0003g0054 a0001c0002t0003g0070 a0001c0002t0003g0297 others(8): Show |
11 | 177 | 0.0621 | 3 | c.718 others(18): Show |
VPS39 | ENSG00000166887.16 | transcript | ENST00000318006.10 | protein_coding | 8/24 | chr15 | TogoVar | |||||||
VPS39_chr15_42153701_42213304 | 42189728 | C | CAAA | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp2 HG01978.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0014 a0001c0001t0001g0115 a0001c0001t0001g0154 others(16): Show |
20 | 146 | 0.1370 | 3 | c.248 others(18): Show |
VPS39 | ENSG00000166887.16 | transcript | ENST00000318006.10 | protein_coding | 4/24 | chr15 | TogoVar | |||||||
VPS39_chr15_42153701_42213304 | 42189794 | C | CTTT | intron_variant | MODIFIER | HG00621.hp2 HG01109.hp1 HG01175.hp2 others(19): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0004a0001c0003t0002others(2): Show | a0001c0002t0002g0004 a0001c0002t0002g0295 a0001c0002t0004g0100 others(16): Show |
22 | 234 | 0.0940 | 3 | c.248 others(18): Show |
VPS39 | ENSG00000166887.16 | transcript | ENST00000318006.10 | protein_coding | 4/24 | chr15 | TogoVar | |||||||
VPS39_chr15_42153701_42213304 | 42189819 | T | TTTC | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(122): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(102): Show |
125 | 286 | 0.4371 | 3 | c.248 others(18): Show |
VPS39 | ENSG00000166887.16 | transcript | ENST00000318006.10 | protein_coding | 4/24 | chr15 | TogoVar | |||||||
VPS41_chr7_38717974_38914191 | 38720480 | T | TTTA | downstream_gene_variant | MODIFIER | HG02074.hp1 HG03017.hp2 NA18943.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004a0001c0002t0008 | a0001c0002t0002g0104 a0001c0002t0002g0125 a0001c0002t0002g0145 others(3): Show |
6 | 276 | 0.0217 | 3 | c.*57 others(14): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 2493 | chr7 | TogoVar | |||||||
VPS41_chr7_38717974_38914191 | 38720486 | A | ATTT | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00735.hp1 HG00741.hp1 others(47): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(19): Show | a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 others(47): Show |
50 | 238 | 0.2101 | 3 | c.*57 others(14): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 2487 | chr7 | TogoVar | |||||||
VPS41_chr7_38717974_38914191 | 38749988 | G | GAGT | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG02145.hp2 others(12): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0011others(1): Show | a0001c0001t0016a0001c0001t0028a0001c0003t0003others(7): Show | a0001c0001t0016g0077 a0001c0001t0028g0070 a0001c0003t0003g0071 others(12): Show |
15 | 276 | 0.0543 | 3 | c.192 others(22): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 22/28 | chr7 | TogoVar | |||||||
VPS41_chr7_38717974_38914191 | 38790307 | A | ATCT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(271): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(79): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(264): Show |
274 | 276 | 0.9928 | 3 | c.718 others(18): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 9/28 | chr7 | TogoVar | |||||||
VPS41_chr7_38717974_38914191 | 38837180 | G | GTTA | intron_variant | MODIFIER | HG01106.hp2 HG02922.hp1 HG03471.hp1 others(2): Show |
a0001 | a0001c0005a0001c0008a0001c0009 | a0001c0005t0031a0001c0005t0034a0001c0005t0054others(2): Show | a0001c0005t0031g0098 a0001c0005t0034g0196 a0001c0005t0054g0195 others(2): Show |
5 | 276 | 0.0181 | 3 | c.247 others(20): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 4/28 | chr7 | TogoVar | |||||||
VPS41_chr7_38717974_38914191 | 38853418 | C | CAAA | intron_variant | MODIFIER | HG01884.hp1 HG02615.hp2 HG02818.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0006a0001c0002t0002a0001c0002t0004others(5): Show | a0001c0001t0006g0112 a0001c0002t0002g0101 a0001c0002t0002g0107 others(9): Show |
12 | 32 | 0.3750 | 3 | c.246 others(20): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 4/28 | chr7 | TogoVar | |||||||
VPS41_chr7_38717974_38914191 | 38895467 | C | CTAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(263): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(76): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(256): Show |
266 | 276 | 0.9638 | 3 | c.60+ others(18): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 2/28 | chr7 | TogoVar | |||||||
VPS41_chr7_38717974_38914191 | 38897194 | C | CAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(134): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(129): Show |
137 | 149 | 0.9195 | 3 | c.60+ others(16): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 2/28 | chr7 | TogoVar | |||||||
VPS45_chr1_150062776_150150329 | 150074955 | C | CTTT | intron_variant | MODIFIER | HG01175.hp2 HG01243.hp2 HG02257.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0087 others(5): Show |
8 | 22 | 0.3636 | 3 | c.290 others(20): Show |
VPS45 | ENSG00000136631.16 | transcript | ENST00000644510.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS45_chr1_150062776_150150329 | 150075138 | C | CTTT | intron_variant | MODIFIER | HG00738.hp2 HG01243.hp1 HG01891.hp1 others(27): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0004t0001others(1): Show | a0001c0001t0001g0035 a0001c0001t0001g0088 a0001c0001t0001g0105 others(27): Show |
30 | 40 | 0.7500 | 3 | c.290 others(20): Show |
VPS45 | ENSG00000136631.16 | transcript | ENST00000644510.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS45_chr1_150062776_150150329 | 150079112 | C | CAAA | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02145.hp1 others(10): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0002c0002t0004others(1): Show | a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0114 others(10): Show |
13 | 172 | 0.0756 | 3 | c.687 others(20): Show |
VPS45 | ENSG00000136631.16 | transcript | ENST00000644510.2 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS45_chr1_150062776_150150329 | 150082514 | C | CAAA | intron_variant | MODIFIER | HG01891.hp2 HG02630.hp2 HG02723.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0148 a0001c0001t0001g0163 a0002c0002t0001g0006 others(9): Show |
12 | 172 | 0.0698 | 3 | c.937 others(18): Show |
VPS45 | ENSG00000136631.16 | transcript | ENST00000644510.2 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS45_chr1_150062776_150150329 | 150086483 | G | GTTT | intron_variant | MODIFIER | HG01891.hp2 HG02630.hp2 HG02723.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(7): Show |
10 | 174 | 0.0575 | 3 | c.110 others(22): Show |
VPS45 | ENSG00000136631.16 | transcript | ENST00000644510.2 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS45_chr1_150062776_150150329 | 150086497 | G | GTTT | intron_variant | MODIFIER | HG01891.hp2 HG02630.hp2 HG02723.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 others(7): Show |
10 | 171 | 0.0585 | 3 | c.110 others(22): Show |
VPS45 | ENSG00000136631.16 | transcript | ENST00000644510.2 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS45_chr1_150062776_150150329 | 150086971 | C | CAAA | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01168.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0023 others(25): Show |
30 | 159 | 0.1887 | 3 | c.110 others(22): Show |
VPS45 | ENSG00000136631.16 | transcript | ENST00000644510.2 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |