regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VAV3_chr1_107566161_107970180 | 107952468 | T | TATATATA others(22): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0098 | 1 | 210 | 0.0048 | 29 | c.204 others(48): Show |
VAV3 | ENSG00000134215.16 | transcript | ENST00000370056.9 | protein_coding | 1/26 | chr1 | TogoVar | ||||||
VCX2_chrX_8164944_8176267 | 8169117 | T | TCTCCCCA others(22): Show |
downstream_gene_variant | MODIFIER | NA19005.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002 | 1 | 115 | 0.0087 | 29 | c.*91 others(38): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 826 | chrX | TogoVar | ||||||
VCX2_chrX_8164944_8176267 | 8169207 | C | CCCTCCCT others(22): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 HG02293.hp2 HG02886.hp2 |
a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0009a0004c0004t0003g0058a0004c0004t0003g0060 | 3 | 115 | 0.0261 | 29 | c.*82 others(38): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 736 | chrX | TogoVar | ||||||
VCX2_chrX_8164944_8176267 | 8169296 | A | ACCTCTTC others(22): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0006 | 1 | 115 | 0.0087 | 29 | c.*73 others(38): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 647 | chrX | TogoVar | ||||||
VCX2_chrX_8164944_8176267 | 8169628 | C | CCCTCCCT others(22): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 | a0018 | a0018c0017 | a0018c0017t0002 | a0018c0017t0002g0042 | 1 | 115 | 0.0087 | 29 | c.*40 others(38): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 315 | chrX | TogoVar | ||||||
VCX2_chrX_8164944_8176267 | 8169722 | T | TCCCTCCC others(22): Show |
downstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 115 | 0.0087 | 29 | c.*30 others(38): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 221 | chrX | TogoVar | ||||||
VCX2_chrX_8164944_8176267 | 8169723 | C | CCCTCCCT others(22): Show |
downstream_gene_variant | MODIFIER | HG02300.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0018 | 1 | 115 | 0.0087 | 29 | c.*30 others(38): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 220 | chrX | TogoVar | ||||||
VCX2_chrX_8164944_8176267 | 8169895 | C | CCCCTCCC others(22): Show |
downstream_gene_variant | MODIFIER | NA18986.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0004 | 1 | 115 | 0.0087 | 29 | c.*13 others(38): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 48 | chrX | TogoVar | ||||||
VCX3A_chrX_6528618_6540118 | 6532792 | C | CCCTCCCT others(22): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0004 | 1 | 74 | 0.0135 | 29 | c.*95 others(38): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 825 | chrX | TogoVar | ||||||
VCX3A_chrX_6528618_6540118 | 6532851 | C | CCCTCCCT others(22): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 HG03516.hp2 |
a0007a0028 | a0007c0008a0028c0029 | a0007c0008t0001a0028c0029t0001 | a0007c0008t0001g0007a0028c0029t0001g0017 | 2 | 74 | 0.0270 | 29 | c.*89 others(38): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 766 | chrX | TogoVar | ||||||
VCX3A_chrX_6528618_6540118 | 6532869 | A | ACACTTCT others(22): Show |
downstream_gene_variant | MODIFIER | HG03579.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0004 | 1 | 74 | 0.0135 | 29 | c.*87 others(38): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 748 | chrX | TogoVar | ||||||
VCX3A_chrX_6528618_6540118 | 6532904 | A | ACCTCTTC others(22): Show |
downstream_gene_variant | MODIFIER | NA20752.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0049 | 1 | 74 | 0.0135 | 29 | c.*84 others(38): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 713 | chrX | TogoVar | ||||||
VCX3A_chrX_6528618_6540118 | 6533095 | C | CCCTCCCT others(22): Show |
downstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 74 | 0.0135 | 29 | c.*64 others(38): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 522 | chrX | TogoVar | ||||||
VCX3A_chrX_6528618_6540118 | 6533146 | A | ACACCTCT others(22): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0027 | a0027c0030 | a0027c0030t0001 | a0027c0030t0001g0020 | 1 | 74 | 0.0135 | 29 | c.*59 others(38): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 471 | chrX | TogoVar | ||||||
VCX3A_chrX_6528618_6540118 | 6533146 | A | ACACCTCT others(22): Show |
downstream_gene_variant | MODIFIER | NA19056.hp1 | a0025 | a0025c0019 | a0025c0019t0002 | a0025c0019t0002g0040 | 1 | 74 | 0.0135 | 29 | c.*59 others(38): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 471 | chrX | TogoVar | ||||||
VCX3A_chrX_6528618_6540118 | 6533158 | C | CCCTCCCT others(22): Show |
downstream_gene_variant | MODIFIER | NA18988.hp1 | a0006 | a0006c0007 | a0006c0007t0015 | a0006c0007t0015g0045 | 1 | 74 | 0.0135 | 29 | c.*58 others(38): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 459 | chrX | TogoVar | ||||||
VCX3A_chrX_6528618_6540118 | 6533254 | C | CCCTCCCT others(22): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 | a0010 | a0010c0014 | a0010c0014t0005 | a0010c0014t0005g0038 | 1 | 74 | 0.0135 | 29 | c.*49 others(38): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 363 | chrX | TogoVar | ||||||
VCX3A_chrX_6528618_6540118 | 6533272 | A | ACACCTCT others(22): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 NA19240.hp2 |
a0001a0028 | a0001c0001a0028c0029 | a0001c0001t0001a0028c0029t0001 | a0001c0001t0001g0014a0028c0029t0001g0017 | 2 | 74 | 0.0270 | 29 | c.*47 others(38): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 345 | chrX | TogoVar | ||||||
VCX3A_chrX_6528618_6540118 | 6533482 | T | TCCCCACA others(22): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1 |
a0004a0021 | a0004c0005a0021c0024 | a0004c0005t0002a0021c0024t0006 | a0004c0005t0002g0013a0004c0005t0002g0049a0021c0024t0006g0048 | 3 | 74 | 0.0405 | 29 | c.*26 others(38): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 135 | chrX | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8466638 | A | AGGGAGGG others(22): Show |
downstream_gene_variant | MODIFIER | HG01168.hp1 | a0014 | a0014c0020 | a0014c0020t0016 | a0014c0020t0016g0001 | 1 | 271 | 0.0037 | 29 | c.*25 others(38): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 129 | chrX | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8466846 | A | AGGGAGGG others(22): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003 | 1 | 271 | 0.0037 | 29 | c.*46 others(38): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 337 | chrX | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8466939 | A | AGGGAGGG others(22): Show |
downstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 271 | 0.0037 | 29 | c.*55 others(38): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 430 | chrX | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8466993 | T | TGGTGTGT others(22): Show |
downstream_gene_variant | MODIFIER | NA19066.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0006 | 1 | 271 | 0.0037 | 29 | c.*61 others(38): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 484 | chrX | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8467005 | A | AGGGAGGG others(22): Show |
downstream_gene_variant | MODIFIER | HG01515.hp1 HG01517.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003a0002c0002t0002g0043 | 2 | 271 | 0.0074 | 29 | c.*62 others(38): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 496 | chrX | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8467180 | T | TGTGGGGA others(22): Show |
downstream_gene_variant | MODIFIER | HG01175.hp2 NA18951.hp1 NA19091.hp1 |
a0000a0002a0012 | a0000c0038a0002c0002a0012c0012 | a0000c0038t0002a0002c0002t0002a0012c0012t0003 | a0000c0038t0002g0006a0002c0002t0002g0006a0012c0012t0003g0010 | 3 | 271 | 0.0111 | 29 | c.*79 others(38): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 671 | chrX | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8467242 | G | GGGAGGGA others(22): Show |
downstream_gene_variant | MODIFIER | NA19010.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0006 | 1 | 271 | 0.0037 | 29 | c.*85 others(38): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 733 | chrX | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8467295 | T | TGTGTGGG others(22): Show |
downstream_gene_variant | MODIFIER | HG02129.hp1 | a0031 | a0031c0101 | a0031c0101t0003 | a0031c0101t0003g0040 | 1 | 271 | 0.0037 | 29 | c.*91 others(38): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 786 | chrX | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8467304 | A | AGGGAGGG others(22): Show |
downstream_gene_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 271 | 0.0037 | 29 | c.*92 others(38): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 795 | chrX | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8467320 | G | GGGAAGAG others(22): Show |
downstream_gene_variant | MODIFIER | HG03017.hp1 | a0063 | a0063c0094 | a0063c0094t0001 | a0063c0094t0001g0007 | 1 | 271 | 0.0037 | 29 | c.*93 others(38): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 811 | chrX | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8467358 | T | TGGTGTGT others(22): Show |
downstream_gene_variant | MODIFIER | NA18522.hp1 | a0005 | a0005c0005 | a0005c0005t0003 | a0005c0005t0003g0053 | 1 | 271 | 0.0037 | 29 | c.*97 others(38): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 849 | chrX | TogoVar | ||||||
VCX_chrX_7838171_7849143 | 7842285 | T | TGAGATGG others(22): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 | a0002 | a0002c0006 | a0002c0006t0003 | a0002c0006t0003g0002 | 1 | 341 | 0.0029 | 29 | c.-91 others(38): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 885 | chrX | TogoVar | ||||||
VCX_chrX_7838171_7849143 | 7844176 | A | AGGGAGGG others(22): Show |
downstream_gene_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0006 | a0002c0006t0003 | a0002c0006t0003g0002 | 1 | 341 | 0.0029 | 29 | c.*16 others(38): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 34 | chrX | TogoVar | ||||||
VCX_chrX_7838171_7849143 | 7844176 | A | AGGGAGGG others(22): Show |
downstream_gene_variant | MODIFIER | NA18939.hp1 | a0010 | a0010c0012 | a0010c0012t0003 | a0010c0012t0003g0002 | 1 | 341 | 0.0029 | 29 | c.*16 others(38): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 34 | chrX | TogoVar | ||||||
VCX_chrX_7838171_7849143 | 7844337 | A | AGGGAGGG others(22): Show |
downstream_gene_variant | MODIFIER | NA18980.hp1 NA19085.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0001 | 2 | 341 | 0.0059 | 29 | c.*32 others(38): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 195 | chrX | TogoVar | ||||||
VCX_chrX_7838171_7849143 | 7844370 | A | AGGGAGGG others(22): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 HG01099.hp1 HG01433.hp1 others(8): Show |
a0005a0009a0011others(1): Show | a0005c0005a0009c0011a0011c0013others(1): Show | a0005c0005t0005a0005c0005t0007a0009c0011t0005others(2): Show | a0005c0005t0005g0003a0005c0005t0007g0003a0009c0011t0005g0002others(2): Show | 11 | 341 | 0.0323 | 29 | c.*35 others(38): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 228 | chrX | TogoVar | ||||||
VCX_chrX_7838171_7849143 | 7844370 | A | AGGGAGGG others(22): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 HG02280.hp1 NA19240.hp2 |
a0002a0032 | a0002c0002a0032c0029 | a0002c0002t0002a0032c0029t0006 | a0002c0002t0002g0001a0032c0029t0006g0004 | 3 | 341 | 0.0088 | 29 | c.*35 others(38): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 228 | chrX | TogoVar | ||||||
VCX_chrX_7838171_7849143 | 7844463 | A | AGGGAGGG others(22): Show |
downstream_gene_variant | MODIFIER | NA18979.hp2 NA19082.hp1 |
a0019 | a0019c0017 | a0019c0017t0002 | a0019c0017t0002g0001 | 2 | 341 | 0.0059 | 29 | c.*44 others(38): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 321 | chrX | TogoVar | ||||||
VCY_chrY_13980772_13991473 | 13985230 | G | GACACACC others(22): Show |
downstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 123 | 0.0081 | 29 | c.*64 others(38): Show |
VCY | ENSG00000129864.7 | transcript | ENST00000250825.5 | protein_coding | 541 | chrY | TogoVar | ||||||
VEPH1_chr3_157254742_157508416 | 157304019 | T | TATATATA others(22): Show |
intron_variant | MODIFIER | HG00558.hp1 HG04228.hp2 |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0006a0003c0002t0001 | a0001c0001t0006g0193a0003c0002t0001g0214 | 2 | 304 | 0.0066 | 29 | c.201 others(48): Show |
VEPH1 | ENSG00000197415.12 | transcript | ENST00000362010.7 | protein_coding | 11/13 | chr3 | TogoVar | ||||||
VEPH1_chr3_157254742_157508416 | 157481465 | C | CACACACA others(22): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084 | 1 | 304 | 0.0033 | 29 | c.139 others(48): Show |
VEPH1 | ENSG00000197415.12 | transcript | ENST00000362010.7 | protein_coding | 2/13 | chr3 | TogoVar | ||||||
VGLL3_chr3_86932973_86996149 | 86962884 | C | CAAAATAG others(22): Show |
intron_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0181 | 1 | 370 | 0.0027 | 29 | c.937 others(46): Show |
VGLL3 | ENSG00000206538.9 | transcript | ENST00000398399.7 | protein_coding | 3/3 | chr3 | TogoVar | ||||||
VGLL3_chr3_86932973_86996149 | 86989706 | G | GTCTGAGG others(22): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0302 | 1 | 370 | 0.0027 | 29 | c.126 others(44): Show |
VGLL3 | ENSG00000206538.9 | transcript | ENST00000398399.7 | protein_coding | 1/3 | chr3 | TogoVar | ||||||
VGLL3_chr3_86932973_86996149 | 86995540 | A | AATATATA others(22): Show |
upstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0223 | 1 | 370 | 0.0027 | 29 | c.-47 others(40): Show |
VGLL3 | ENSG00000206538.9 | transcript | ENST00000398399.7 | protein_coding | 4392 | chr3 | TogoVar | ||||||
VIPR1_chr3_42497643_42542568 | 42522101 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0014 | a0001c0014t0003 | a0001c0014t0003g0268 | 1 | 412 | 0.0024 | 29 | c.292 others(46): Show |
VIPR1 | ENSG00000114812.13 | transcript | ENST00000325123.5 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
VIRMA_chr8_94482689_94558469 | 94556368 | A | ATATATAT others(22): Show |
upstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 346 | 0.0029 | 29 | c.-29 others(40): Show |
VIRMA | ENSG00000164944.12 | transcript | ENST00000297591.10 | protein_coding | 2900 | chr8 | TogoVar | ||||||
VMAC_chr19_5899872_5915853 | 5907610 | T | TAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01123.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0026 | a0001c0001t0001g0014a0001c0001t0026g0014 | 5 | 386 | 0.0130 | 29 | c.192 others(46): Show |
VMAC | ENSG00000187650.4 | transcript | ENST00000339485.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
VNN1_chr6_132675849_132719055 | 132717176 | A | AAAAAAAA others(22): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 418 | 0.0024 | 29 | c.-31 others(40): Show |
VNN1 | ENSG00000112299.8 | transcript | ENST00000367928.5 | protein_coding | 3122 | chr6 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99270131 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0021 | a0021c0034 | a0021c0034t0001 | a0021c0034t0001g0106 | 1 | 134 | 0.0075 | 29 | c.251 others(48): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 17/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
VPS13B_chr8_99008274_99882580 | 99497165 | A | ATATTTAT others(22): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 134 | 0.0075 | 29 | c.387 others(48): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 25/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
VPS13B_chr8_99008274_99882580 | 99832341 | A | ATTTTTTT others(22): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG01981.hp1 HG02040.hp2 NA19065.hp1 |
a0002a0008 | a0002c0003a0008c0029 | a0002c0003t0003a0008c0029t0003 | a0002c0003t0003g0078a0002c0003t0003g0084a0008c0029t0003g0086 | 3 | 134 | 0.0224 | 29 | c.933 others(42): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 51/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |