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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VCX3B_chrX_8459830_8471510 | 8467308 | A | AGGGAGGA others(14): Show |
downstream_gene_variant | MODIFIER | NA19080.hp2 NA19087.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0007 | 2 | 247 | 0.0081 | 21 | c.*92 others(30): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 799 | chrX | TogoVar | |||||||
VCX3B_chrX_8459830_8471510 | 8467312 | A | AGGGGGGA others(14): Show |
downstream_gene_variant | MODIFIER | NA20752.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0013 | 1 | 249 | 0.0040 | 21 | c.*92 others(30): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 803 | chrX | TogoVar | |||||||
VDAC2_chr10_75205796_75236448 | 75232740 | C | CTTTTTTT others(14): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00544.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0088 others(2): Show |
9 | 83 | 0.1084 | 21 | c.*17 others(32): Show |
VDAC2 | ENSG00000165637.14 | transcript | ENST00000332211.11 | protein_coding | 1293 | chr10 | TogoVar | |||||||
VDR_chr12_47836537_47909994 | 47852963 | T | TACAGCTA others(14): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0307 | 1 | 356 | 0.0028 | 21 | c.755 others(38): Show |
VDR | ENSG00000111424.12 | transcript | ENST00000549336.6 | protein_coding | 7/9 | chr12 | TogoVar | |||||||
VDR_chr12_47836537_47909994 | 47871298 | C | CTTTCTTT others(14): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0034 | 1 | 354 | 0.0028 | 21 | c.147 others(38): Show |
VDR | ENSG00000111424.12 | transcript | ENST00000549336.6 | protein_coding | 3/9 | chr12 | TogoVar | |||||||
VEGFC_chr4_176678538_176797922 | 176768513 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | NA18612.hp1 NA18612.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0041 a0001c0001t0001g0067 a0001c0001t0002g0182 |
3 | 216 | 0.0139 | 21 | c.147 others(40): Show |
VEGFC | ENSG00000150630.4 | transcript | ENST00000618562.2 | protein_coding | 1/6 | chr4 | TogoVar | |||||||
VEPH1_chr3_157254742_157508416 | 157304019 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01243.hp1 HG02886.hp1 others(8): Show |
a0001a0017 | a0001c0001a0017c0019 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0040 a0001c0001t0001g0196 a0001c0001t0001g0220 others(8): Show |
11 | 266 | 0.0414 | 21 | c.201 others(40): Show |
VEPH1 | ENSG00000197415.12 | transcript | ENST00000362010.7 | protein_coding | 11/13 | chr3 | TogoVar | |||||||
VEPH1_chr3_157254742_157508416 | 157369180 | G | GAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03710.hp2 NA20129.hp2 |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0003c0002t0002 | a0001c0001t0001g0183 a0001c0001t0001g0201 a0003c0002t0002g0094 |
3 | 64 | 0.0469 | 21 | c.112 others(40): Show |
VEPH1 | ENSG00000197415.12 | transcript | ENST00000362010.7 | protein_coding | 7/13 | chr3 | TogoVar | |||||||
VEPH1_chr3_157254742_157508416 | 157369188 | A | AAAAAACA others(14): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0008 | a0008c0020 | a0008c0020t0002 | a0008c0020t0002g0212 | 1 | 302 | 0.0033 | 21 | c.112 others(40): Show |
VEPH1 | ENSG00000197415.12 | transcript | ENST00000362010.7 | protein_coding | 7/13 | chr3 | TogoVar | |||||||
VEPH1_chr3_157254742_157508416 | 157369192 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01978.hp2 NA19009.hp2 |
a0001a0003a0009 | a0001c0001a0003c0002a0009c0014 | a0001c0001t0002a0003c0002t0002a0009c0014t0002 | a0001c0001t0002g0179 a0003c0002t0002g0121 a0009c0014t0002g0215 |
3 | 298 | 0.0101 | 21 | c.112 others(40): Show |
VEPH1 | ENSG00000197415.12 | transcript | ENST00000362010.7 | protein_coding | 7/13 | chr3 | TogoVar | |||||||
VEPH1_chr3_157254742_157508416 | 157481466 | A | ACACACAC others(14): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG03209.hp2 |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0004a0003c0002t0001 | a0001c0001t0004g0026 a0001c0001t0004g0027 a0003c0002t0001g0025 |
3 | 228 | 0.0132 | 21 | c.139 others(40): Show |
VEPH1 | ENSG00000197415.12 | transcript | ENST00000362010.7 | protein_coding | 2/13 | chr3 | TogoVar | |||||||
VEZT_chr12_95212807_95307799 | 95240073 | G | GAAGGAAG others(14): Show |
intron_variant | MODIFIER | HG01106.hp1 NA20752.hp1 |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0360 a0001c0003t0006g0368 |
2 | 123 | 0.0163 | 21 | c.37- others(38): Show |
VEZT | ENSG00000028203.19 | transcript | ENST00000436874.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
VGLL1_chrX_136527215_136561799 | 136553364 | G | GCAATGGC others(14): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0045 | 1 | 257 | 0.0039 | 21 | c.688 others(38): Show |
VGLL1 | ENSG00000102243.13 | transcript | ENST00000370634.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
VGLL2_chr6_117260558_117278565 | 117271327 | A | AATAATAA others(14): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0049 | 1 | 366 | 0.0027 | 21 | c.913 others(36): Show |
VGLL2 | ENSG00000170162.14 | transcript | ENST00000326274.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
VGLL3_chr3_86932973_86996149 | 86992740 | C | CTTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | HG03831.hp1 NA18942.hp2 NA18974.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0031 | a0001c0001t0001g0125 a0001c0001t0002g0094 a0001c0001t0031g0263 |
3 | 127 | 0.0236 | 21 | c.-19 others(32): Show |
VGLL3 | ENSG00000206538.9 | transcript | ENST00000398399.7 | protein_coding | 1592 | chr3 | TogoVar | |||||||
VGLL4_chr3_11551069_11648915 | 11616344 | G | GCGTTATG others(14): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0213 | 1 | 386 | 0.0026 | 21 | c.83- others(38): Show |
VGLL4 | ENSG00000144560.16 | transcript | ENST00000430365.7 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
VHLL_chr1_156293624_156304307 | 156296579 | A | AAAAAAAT others(14): Show |
downstream_gene_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 194 | 0.0052 | 21 | c.*21 others(32): Show |
VHLL | ENSG00000189030.10 | transcript | ENST00000339922.5 | protein_coding | 2044 | chr1 | TogoVar | |||||||
VHLL_chr1_156293624_156304307 | 156296642 | A | AGAGAGAG others(14): Show |
downstream_gene_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 374 | 0.0027 | 21 | c.*21 others(32): Show |
VHLL | ENSG00000189030.10 | transcript | ENST00000339922.5 | protein_coding | 1981 | chr1 | TogoVar | |||||||
VILL_chr3_37985786_38012185 | 38007400 | G | GGACACAC others(14): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0013 | 1 | 22 | 0.0455 | 21 | c.*34 others(30): Show |
VILL | ENSG00000136059.16 | transcript | ENST00000383759.7 | protein_coding | 216 | chr3 | TogoVar | |||||||
VIPR1_chr3_42497643_42542568 | 42522101 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01167.hp2 HG01169.hp1 others(4): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0013 | a0001c0004t0001g0017 a0001c0004t0001g0055 a0001c0004t0001g0056 others(3): Show |
7 | 212 | 0.0330 | 21 | c.292 others(38): Show |
VIPR1 | ENSG00000114812.13 | transcript | ENST00000325123.5 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VIPR1_chr3_42497643_42542568 | 42522101 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0009 | a0001c0009t0020 | a0001c0009t0020g0095 | 1 | 206 | 0.0049 | 21 | c.292 others(38): Show |
VIPR1 | ENSG00000114812.13 | transcript | ENST00000325123.5 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VIPR1_chr3_42497643_42542568 | 42522102 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0008 | a0001c0008t0006 | a0001c0008t0006g0060 | 1 | 338 | 0.0030 | 21 | c.292 others(38): Show |
VIPR1 | ENSG00000114812.13 | transcript | ENST00000325123.5 | protein_coding | 3/12 | chr3 | TogoVar | |||||||
VIPR2_chr7_159023175_159149867 | 159045891 | A | ATATATAC others(14): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(280): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(67): Show | a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 others(275): Show |
283 | 332 | 0.8524 | 21 | c.456 others(38): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 5/12 | chr7 | TogoVar | |||||||
VIPR2_chr7_159023175_159149867 | 159102409 | C | CAAAGCTC others(14): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 334 | 0.0030 | 21 | c.357 others(38): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
VIPR2_chr7_159023175_159149867 | 159104527 | A | ACCCTCCC others(14): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01255.hp1 HG01361.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0021a0001c0002t0002others(1): Show | a0001c0001t0001g0101 a0001c0001t0001g0293 a0001c0001t0001g0294 others(4): Show |
7 | 334 | 0.0210 | 21 | c.260 others(36): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
VIPR2_chr7_159023175_159149867 | 159104547 | T | TGCCCTCC others(14): Show |
intron_variant | MODIFIER | HG01891.hp1 HG01934.hp1 HG01952.hp1 others(12): Show |
a0001 | a0001c0005a0001c0012a0001c0013 | a0001c0005t0006a0001c0005t0008a0001c0005t0013others(5): Show | a0001c0005t0006g0078 a0001c0005t0008g0008 a0001c0005t0008g0310 others(12): Show |
15 | 200 | 0.0750 | 21 | c.260 others(36): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
VIPR2_chr7_159023175_159149867 | 159106474 | A | AAGGGGCA others(14): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0121 | 1 | 330 | 0.0030 | 21 | c.260 others(38): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
VIPR2_chr7_159023175_159149867 | 159106493 | G | GGGAGGGG others(14): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0208 | 1 | 334 | 0.0030 | 21 | c.260 others(38): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
VIPR2_chr7_159023175_159149867 | 159106535 | A | AGGAGGGG others(14): Show |
intron_variant | MODIFIER | HG04115.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 a0001c0001t0001g0288 |
2 | 333 | 0.0060 | 21 | c.260 others(38): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
VIPR2_chr7_159023175_159149867 | 159135004 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0103 | 1 | 228 | 0.0044 | 21 | c.151 others(38): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 2/12 | chr7 | TogoVar | |||||||
VIRMA_chr8_94482689_94558469 | 94556361 | A | ATATATAT others(14): Show |
upstream_gene_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 318 | 0.0031 | 21 | c.-29 others(32): Show |
VIRMA | ENSG00000164944.12 | transcript | ENST00000297591.10 | protein_coding | 2893 | chr8 | TogoVar | |||||||
VKORC1L1_chr7_65868074_65964558 | 65872968 | C | CTCCCCAC others(14): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0206 | 1 | 346 | 0.0029 | 21 | c.-40 others(30): Show |
VKORC1L1 | ENSG00000196715.7 | transcript | ENST00000360768.5 | protein_coding | 105 | chr7 | TogoVar | |||||||
VMAC_chr19_5899872_5915853 | 5907610 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02004.hp2 HG03041.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0031 a0001c0001t0003g0048 a0001c0001t0005g0031 |
5 | 59 | 0.0847 | 21 | c.192 others(38): Show |
VMAC | ENSG00000187650.4 | transcript | ENST00000339485.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
VN1R2_chr19_53253292_53264602 | 53254971 | G | GGGGATGG others(14): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00558.hp2 others(77): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0019others(2): Show | a0001c0001t0003a0001c0004t0003a0001c0019t0003others(2): Show | a0001c0001t0003g0000 a0001c0004t0003g0000 a0001c0019t0003g0000 others(2): Show |
80 | 434 | 0.1843 | 21 | c.-34 others(32): Show |
VN1R2 | ENSG00000196131.6 | transcript | ENST00000341702.3 | protein_coding | 3320 | chr19 | TogoVar | |||||||
VN1R2_chr19_53253292_53264602 | 53255026 | G | GACAATGG others(14): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG01928.hp2 HG02083.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 9 | 456 | 0.0197 | 21 | c.-33 others(32): Show |
VN1R2 | ENSG00000196131.6 | transcript | ENST00000341702.3 | protein_coding | 3265 | chr19 | TogoVar | |||||||
VNN2_chr6_132738870_132762904 | 132758000 | T | TTTCTTCT others(14): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 a0001c0001t0001g0095 |
2 | 278 | 0.0072 | 21 | c.-13 others(30): Show |
VNN2 | ENSG00000112303.14 | transcript | ENST00000326499.11 | protein_coding | 97 | chr6 | TogoVar | |||||||
VPS13A_chr9_77172534_77426537 | 77400223 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0178 | 1 | 124 | 0.0081 | 21 | c.919 others(40): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 68/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99270131 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02040.hp2 NA18991.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0003 | a0001c0002t0001g0047 a0001c0002t0001g0085 a0002c0003t0003g0080 |
3 | 18 | 0.1667 | 21 | c.251 others(40): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 17/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99326452 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01981.hp1 HG03195.hp2 |
a0001a0013 | a0001c0001a0001c0008a0013c0029 | a0001c0001t0002a0001c0008t0005a0013c0029t0003 | a0001c0001t0002g0110 a0001c0008t0005g0124 a0013c0029t0003g0088 |
3 | 36 | 0.0833 | 21 | c.282 others(42): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99832341 | A | ATTTTTTT others(14): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG01496.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0100 | 1 | 51 | 0.0196 | 21 | c.933 others(35): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 51/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12352965 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140 | 1 | 19 | 0.0526 | 21 | c.943 others(38): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 46/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12482739 | C | CTAGTATA others(14): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01243.hp1 HG01346.hp2 others(16): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0006a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(8): Show | a0001c0001t0001g0116 a0001c0001t0002g0072 a0001c0001t0010g0120 others(16): Show |
19 | 127 | 0.1496 | 21 | c.126 others(44): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 67/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS26A_chr10_69119178_69179412 | 69151264 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02559.hp1 HG02809.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0009a0001c0004t0009 | a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0009g0005 others(4): Show |
8 | 265 | 0.0302 | 21 | c.154 others(38): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
VPS26A_chr10_69119178_69179412 | 69162386 | G | GATATGTT others(14): Show |
conservative_inframe_insertion | MODERATE | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0249 | 1 | 334 | 0.0030 | 21 | c.552 others(31): Show |
p.Tyr others(34): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 6/9 | 656/4227 | 556/984 | 186/327 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
VPS26C_chr21_37218422_37272334 | 37255851 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 a0001c0001t0002g0046 |
2 | 47 | 0.0426 | 21 | c.57+ others(38): Show |
VPS26C | ENSG00000157538.14 | transcript | ENST00000309117.11 | protein_coding | 1/7 | chr21 | TogoVar | |||||||
VPS33A_chr12_122224564_122271494 | 122239749 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02074.hp2 NA18955.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008 | a0001c0001t0006g0306 a0001c0001t0008g0196 |
2 | 48 | 0.0417 | 21 | c.116 others(38): Show |
VPS33A | ENSG00000139719.11 | transcript | ENST00000267199.9 | protein_coding | 9/12 | chr12 | TogoVar | |||||||
VPS33B_chr15_90993673_91027594 | 91026979 | C | CTTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 HG02615.hp1 HG02965.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0001a0001c0005t0001a0001c0006t0001 | a0001c0001t0001g0030 a0001c0001t0001g0112 a0001c0001t0001g0130 others(3): Show |
6 | 153 | 0.0392 | 21 | c.-47 others(32): Show |
VPS33B | ENSG00000184056.15 | transcript | ENST00000333371.8 | protein_coding | 4386 | chr15 | TogoVar | |||||||
VPS35L_chr16_19550703_19706163 | 19615968 | A | AAATAATA others(14): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0176 | 1 | 68 | 0.0147 | 21 | c.102 others(38): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 12/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19666996 | T | TCTTTCTT others(14): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03098.hp1 HG03579.hp2 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0059 a0001c0006t0001g0061 a0001c0006t0001g0069 |
3 | 167 | 0.0180 | 21 | c.222 others(40): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 26/30 | chr16 | TogoVar | |||||||
VPS35_chr16_46651132_46694178 | 46663862 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02040.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029 a0001c0001t0003g0038 |
2 | 6 | 0.3333 | 21 | c.164 others(38): Show |
VPS35 | ENSG00000069329.19 | transcript | ENST00000299138.12 | protein_coding | 13/16 | chr16 | TogoVar |