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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
USP47_chr11_11836972_11966887 | 11923041 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG02886.hp2 HG03098.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0002t0003 | a0001c0001t0014g0362 a0001c0002t0003g0009 |
3 | 40 | 0.0750 | -30 | c.138 others(47): Show |
USP47 | ENSG00000170242.19 | transcript | ENST00000527733.7 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
USP6NL_chr10_11455510_11616650 | 11541230 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG01358.hp1 HG02027.hp2 HG02273.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0004t0001 | a0001c0001t0001g0200 a0001c0002t0001g0199 a0001c0002t0001g0212 others(2): Show |
5 | 103 | 0.0485 | -30 | c.5-1 others(45): Show |
USP6NL | ENSG00000148429.15 | transcript | ENST00000609104.6 | protein_coding | 2/14 | chr10 | TogoVar | |||||||
USP7_chr16_8887097_8968906 | 8964049 | CCCGCCTG others(23): Show |
C | upstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0316 | 1 | 336 | 0.0030 | -30 | c.-79 others(39): Show |
USP7 | ENSG00000187555.17 | transcript | ENST00000344836.9 | protein_coding | 144 | chr16 | TogoVar | |||||||
UTRN_chr6_144280335_144858034 | 144561236 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG03453.hp1 | a0012 | a0012c0047 | a0012c0047t0001 | a0012c0047t0001g0011 | 1 | 126 | 0.0079 | -30 | c.728 others(49): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 50/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
UVRAG_chr11_75810210_76149232 | 75828754 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp1 HG01106.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0038a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0038g0122 a0002c0002t0001g0096 a0002c0002t0002g0084 others(3): Show |
6 | 109 | 0.0550 | -30 | c.117 others(49): Show |
UVRAG | ENSG00000198382.9 | transcript | ENST00000356136.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
UVRAG_chr11_75810210_76149232 | 75850054 | GCAATCAG others(23): Show |
G | intron_variant | MODIFIER | HG01074.hp1 HG01884.hp2 HG02109.hp2 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0011a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0134 a0001c0001t0002g0136 a0001c0001t0003g0133 others(22): Show |
25 | 144 | 0.1736 | -30 | c.118 others(47): Show |
UVRAG | ENSG00000198382.9 | transcript | ENST00000356136.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
VAMP4_chr1_171695160_171747065 | 171703423 | GTGTATAT others(23): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0064 | 1 | 344 | 0.0029 | -30 | c.*10 others(41): Show |
VAMP4 | ENSG00000117533.15 | transcript | ENST00000236192.12 | protein_coding | 8/8 | 1053 | chr1 | TogoVar | ||||||
VAV1_chr19_6767708_6862361 | 6794007 | ATAAATGA others(23): Show |
A | intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 303 | 0.0033 | -30 | c.204 others(49): Show |
VAV1 | ENSG00000141968.8 | transcript | ENST00000602142.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
VAV2_chr9_133756894_133997324 | 133856408 | TCCCCATG others(23): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp2 HG02647.hp1 others(7): Show |
a0001a0002 | a0001c0009a0001c0013a0002c0011 | a0001c0009t0002a0001c0009t0021a0001c0009t0023others(4): Show | a0001c0009t0002g0027 a0001c0009t0002g0034 a0001c0009t0002g0169 others(7): Show |
10 | 198 | 0.0505 | -30 | c.380 others(47): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 3/29 | chr9 | TogoVar | |||||||
VAV2_chr9_133756894_133997324 | 133964040 | TATATATA others(23): Show |
T | intron_variant | MODIFIER | HG03471.hp1 HG03579.hp1 |
a0001 | a0001c0002a0001c0021 | a0001c0002t0002a0001c0021t0024 | a0001c0002t0002g0166 a0001c0021t0024g0021 |
2 | 198 | 0.0101 | -30 | c.205 others(49): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 1/29 | chr9 | TogoVar | |||||||
VAV3_chr1_107566161_107970180 | 107574990 | TGTGCGTG others(23): Show |
T | intron_variant | MODIFIER | HG02717.hp1 HG02895.hp1 HG02897.hp1 others(2): Show |
a0001a0008 | a0001c0001a0008c0019 | a0001c0001t0007a0001c0001t0019a0008c0019t0005 | a0001c0001t0007g0054 a0001c0001t0007g0097 a0001c0001t0007g0099 others(2): Show |
5 | 204 | 0.0245 | -30 | c.235 others(47): Show |
VAV3 | ENSG00000134215.16 | transcript | ENST00000370056.9 | protein_coding | 25/26 | chr1 | TogoVar | |||||||
VAV3_chr1_107566161_107970180 | 107728594 | CGTATACG others(23): Show |
C | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0047 | 1 | 208 | 0.0048 | -30 | c.150 others(51): Show |
VAV3 | ENSG00000134215.16 | transcript | ENST00000370056.9 | protein_coding | 15/26 | chr1 | TogoVar | |||||||
VAV3_chr1_107566161_107970180 | 107728600 | CGTATATG others(23): Show |
C | intron_variant | MODIFIER | HG03516.hp1 | a0009 | a0009c0015 | a0009c0015t0013 | a0009c0015t0013g0041 | 1 | 51 | 0.0196 | -30 | c.150 others(51): Show |
VAV3 | ENSG00000134215.16 | transcript | ENST00000370056.9 | protein_coding | 15/26 | chr1 | TogoVar | |||||||
VAV3_chr1_107566161_107970180 | 107918676 | ATTTTTAA others(23): Show |
A | intron_variant | MODIFIER | HG03490.hp2 | a0002 | a0002c0009 | a0002c0009t0005 | a0002c0009t0005g0163 | 1 | 208 | 0.0048 | -30 | c.205 others(49): Show |
VAV3 | ENSG00000134215.16 | transcript | ENST00000370056.9 | protein_coding | 1/26 | chr1 | TogoVar | |||||||
VCX3B_chrX_8459830_8471510 | 8465975 | GGAACCAC others(23): Show |
G | conservative_inframe_deletion | MODERATE | HG00558.hp2 | a0023 | a0023c0033 | a0023c0033t0004 | a0023c0033t0004g0002 | 1 | 269 | 0.0037 | -30 | c.355 others(37): Show |
p.Glu others(13): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 3/3 | 662/1175 | 355/741 | 119/246 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
VCX3B_chrX_8459830_8471510 | 8466057 | GAGGTGGA others(23): Show |
G | disruptive_inframe_deletion | MODERATE | HG03239.hp2 | a0008 | a0008c0007 | a0008c0007t0002 | a0008c0007t0002g0023 | 1 | 265 | 0.0038 | -30 | c.423 others(37): Show |
p.Glu others(13): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 3/3 | 730/1175 | 423/741 | 141/246 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
VCX3B_chrX_8459830_8471510 | 8466087 | CAGGTGGA others(23): Show |
C | disruptive_inframe_deletion | MODERATE | HG02071.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010 | a0001c0001t0003g0006 a0001c0001t0010g0018 |
2 | 263 | 0.0076 | -30 | c.483 others(37): Show |
p.Glu others(13): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 3/3 | 790/1175 | 483/741 | 161/246 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
VCX3B_chrX_8459830_8471510 | 8466125 | GGAACCAC others(23): Show |
G | conservative_inframe_deletion | MODERATE | HG00621.hp1 HG00733.hp2 HG01106.hp1 others(55): Show |
a0003a0005a0010others(2): Show | a0003c0003a0003c0026a0005c0004others(3): Show | a0003c0003t0001a0003c0003t0006a0003c0003t0008others(9): Show | a0003c0003t0001g0004 a0003c0003t0001g0005 a0003c0003t0001g0008 others(22): Show |
58 | 239 | 0.2427 | -30 | c.505 others(37): Show |
p.Glu others(13): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 3/3 | 812/1175 | 505/741 | 169/246 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
VCX3B_chrX_8459830_8471510 | 8466147 | GAGGTGGA others(23): Show |
G | disruptive_inframe_deletion | MODERATE | HG02132.hp1 | a0007 | a0007c0008 | a0007c0008t0005 | a0007c0008t0005g0004 | 1 | 233 | 0.0043 | -30 | c.513 others(37): Show |
p.Glu others(13): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 3/3 | 820/1175 | 513/741 | 171/246 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
VCX3B_chrX_8459830_8471510 | 8466305 | GGAACCAC others(23): Show |
G | disruptive_inframe_deletion | MODERATE | HG00733.hp2 HG00741.hp2 HG01106.hp1 others(17): Show |
a0001a0004a0005others(3): Show | a0001c0001a0004c0005a0005c0004others(3): Show | a0001c0001t0004a0001c0001t0010a0001c0001t0018others(7): Show | a0001c0001t0004g0002 a0001c0001t0010g0018 a0001c0001t0010g0034 others(8): Show |
20 | 269 | 0.0743 | -30 | c.698 others(37): Show |
p.Pro others(13): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 3/3 | 1005/1175 | 698/741 | 233/246 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
VCX3B_chrX_8459830_8471510 | 8466865 | GGAGGTGT others(23): Show |
G | downstream_gene_variant | MODIFIER | HG02145.hp1 HG03453.hp1 NA18994.hp1 others(1): Show |
a0003a0035a0040 | a0003c0003a0035c0027a0040c0029 | a0003c0003t0006a0035c0027t0001a0040c0029t0006 | a0003c0003t0006g0004 a0035c0027t0001g0005 a0040c0029t0006g0004 |
4 | 269 | 0.0149 | -30 | c.*48 others(39): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 356 | chrX | TogoVar | |||||||
VCX3B_chrX_8459830_8471510 | 8467175 | TGGTGTGT others(23): Show |
T | downstream_gene_variant | MODIFIER | HG02155.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 195 | 0.0051 | -30 | c.*79 others(39): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 666 | chrX | TogoVar | |||||||
VCX_chrX_7838171_7849143 | 7843750 | GAGGTGGA others(23): Show |
G | disruptive_inframe_deletion | MODERATE | HG00609.hp1 | a0016 | a0016c0021 | a0016c0021t0003 | a0016c0021t0003g0002 | 1 | 340 | 0.0029 | -30 | c.363 others(37): Show |
p.Glu others(13): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 2/2 | 396/781 | 363/621 | 121/206 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
VCX_chrX_7838171_7849143 | 7843758 | AGAACCAC others(23): Show |
A | conservative_inframe_deletion | MODERATE | NA18997.hp2 NA19088.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 2 | 333 | 0.0060 | -30 | c.385 others(37): Show |
p.Gln others(13): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 2/2 | 418/781 | 385/621 | 129/206 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
VCX_chrX_7838171_7849143 | 7843840 | CAGGTGGA others(23): Show |
C | conservative_inframe_deletion | MODERATE | HG00408.hp2 HG02004.hp1 NA18964.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0002a0002c0002t0003others(1): Show | a0001c0001t0001g0001 a0002c0002t0002g0001 a0002c0002t0003g0002 others(1): Show |
7 | 329 | 0.0213 | -30 | c.475 others(37): Show |
p.Glu others(13): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 2/2 | 508/781 | 475/621 | 159/206 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
VCX_chrX_7838171_7849143 | 7843903 | GTGGAGGA others(23): Show |
G | disruptive_inframe_deletion | MODERATE | NA19057.hp2 NA19081.hp1 |
a0005 | a0005c0005 | a0005c0005t0005 | a0005c0005t0005g0004 a0005c0005t0005g0009 |
2 | 340 | 0.0059 | -30 | c.513 others(37): Show |
p.Glu others(13): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 2/2 | 546/781 | 513/621 | 171/206 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
VCX_chrX_7838171_7849143 | 7843908 | GGAACCAC others(23): Show |
G | conservative_inframe_deletion | MODERATE | HG03130.hp1 HG03209.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0007a0003c0003t0002 | a0001c0001t0007g0007 a0003c0003t0002g0001 |
2 | 340 | 0.0059 | -30 | c.535 others(37): Show |
p.Glu others(13): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 2/2 | 568/781 | 535/621 | 179/206 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
VDR_chr12_47836537_47909994 | 47859893 | CCTTCCTT others(23): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG01070.hp1 HG01975.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0004a0001c0001t0017a0001c0001t0021others(4): Show | a0001c0001t0004g0123 a0001c0001t0004g0232 a0001c0001t0017g0349 others(5): Show |
8 | 356 | 0.0225 | -30 | c.278 others(47): Show |
VDR | ENSG00000111424.12 | transcript | ENST00000549336.6 | protein_coding | 4/9 | chr12 | TogoVar | |||||||
VDR_chr12_47836537_47909994 | 47859894 | CTTCCTTC others(23): Show |
C | intron_variant | MODIFIER | HG01169.hp1 HG01516.hp1 HG01517.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0004a0001c0003t0018a0001c0003t0041others(4): Show | a0001c0001t0004g0080 a0001c0003t0018g0256 a0001c0003t0041g0314 others(4): Show |
7 | 350 | 0.0200 | -30 | c.278 others(47): Show |
VDR | ENSG00000111424.12 | transcript | ENST00000549336.6 | protein_coding | 4/9 | chr12 | TogoVar | |||||||
VDR_chr12_47836537_47909994 | 47859898 | CTTCCTTC others(23): Show |
C | intron_variant | MODIFIER | HG01978.hp1 NA19012.hp2 NA19056.hp1 |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0003a0001c0003t0018a0002c0004t0002 | a0001c0001t0003g0222 a0001c0003t0018g0010 a0002c0004t0002g0187 |
3 | 335 | 0.0090 | -30 | c.278 others(47): Show |
VDR | ENSG00000111424.12 | transcript | ENST00000549336.6 | protein_coding | 4/9 | chr12 | TogoVar | |||||||
VDR_chr12_47836537_47909994 | 47859902 | CTTCCTTC others(23): Show |
C | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0327 | 1 | 340 | 0.0029 | -30 | c.278 others(47): Show |
VDR | ENSG00000111424.12 | transcript | ENST00000549336.6 | protein_coding | 4/9 | chr12 | TogoVar | |||||||
VEGFC_chr4_176678538_176797922 | 176739940 | AGAATATA others(23): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00735.hp2 others(46): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0029 others(46): Show |
49 | 89 | 0.5506 | -30 | c.148 others(49): Show |
VEGFC | ENSG00000150630.4 | transcript | ENST00000618562.2 | protein_coding | 1/6 | chr4 | TogoVar | |||||||
VGLL3_chr3_86932973_86996149 | 86995527 | ATATATTA others(23): Show |
A | upstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0183 | 1 | 368 | 0.0027 | -30 | c.-48 others(41): Show |
VGLL3 | ENSG00000206538.9 | transcript | ENST00000398399.7 | protein_coding | 4379 | chr3 | TogoVar | |||||||
VGLL4_chr3_11551069_11648915 | 11573283 | GAAAGAAA others(23): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG02148.hp1 NA18955.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0021others(1): Show | a0001c0001t0001g0059 a0001c0001t0002g0378 a0001c0001t0021g0042 others(1): Show |
4 | 368 | 0.0109 | -30 | c.273 others(47): Show |
VGLL4 | ENSG00000144560.16 | transcript | ENST00000430365.7 | protein_coding | 2/4 | chr3 | TogoVar | |||||||
VIL1_chr2_218414123_218458295 | 218415949 | CTCTCTCT others(23): Show |
C | upstream_gene_variant | MODIFIER | HG02451.hp2 | a0007 | a0007c0007 | a0007c0007t0002 | a0007c0007t0002g0190 | 1 | 317 | 0.0032 | -30 | c.-32 others(41): Show |
VIL1 | ENSG00000127831.11 | transcript | ENST00000248444.10 | protein_coding | 3173 | chr2 | TogoVar | |||||||
VKORC1L1_chr7_65868074_65964558 | 65895472 | AAAAAAAA others(23): Show |
A | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 317 | 0.0032 | -30 | c.194 others(49): Show |
VKORC1L1 | ENSG00000196715.7 | transcript | ENST00000360768.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VN1R4_chr19_53261676_53272723 | 53270701 | GGGGAGAG others(23): Show |
G | upstream_gene_variant | MODIFIER | HG00609.hp2 HG00733.hp2 HG00735.hp1 others(10): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0000 a0003c0003t0001g0000 |
13 | 86 | 0.1512 | -30 | c.-30 others(41): Show |
VN1R4 | ENSG00000228567.3 | transcript | ENST00000311170.5 | protein_coding | 2979 | chr19 | TogoVar | |||||||
VPS13B_chr8_99008274_99882580 | 99540037 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01106.hp2 HG02451.hp1 others(1): Show |
a0001a0020 | a0001c0002a0001c0008a0020c0030 | a0001c0002t0001a0001c0008t0005a0020c0030t0001 | a0001c0002t0001g0008 a0001c0002t0001g0030 a0001c0008t0005g0125 others(1): Show |
4 | 116 | 0.0345 | -30 | c.474 others(51): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 30/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99540039 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0007 | 1 | 114 | 0.0088 | -30 | c.474 others(51): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 30/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99540041 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009 | 1 | 129 | 0.0078 | -30 | c.474 others(51): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 30/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12285965 | TTCCTTTC others(23): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG03516.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0015a0001c0002t0015 | a0001c0001t0015g0069 a0001c0002t0015g0057 |
2 | 152 | 0.0132 | -30 | c.563 others(49): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS33B_chr15_90993673_91027594 | 91017367 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01433.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0278 a0002c0002t0002g0279 |
2 | 129 | 0.0155 | -30 | c.178 others(45): Show |
VPS33B | ENSG00000184056.15 | transcript | ENST00000333371.8 | protein_coding | 2/22 | chr15 | TogoVar | |||||||
VPS35L_chr16_19550703_19706163 | 19570834 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG01433.hp1 HG02257.hp1 HG02622.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0005 | a0001c0001t0001g0074 a0001c0002t0001g0132 a0001c0002t0001g0134 others(1): Show |
4 | 22 | 0.1818 | -30 | c.285 others(47): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VPS41_chr7_38717974_38914191 | 38720556 | GTGTGTGT others(23): Show |
G | downstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0192 | 1 | 245 | 0.0041 | -30 | c.*56 others(41): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 2417 | chr7 | TogoVar | |||||||
VSIR_chr10_71742556_71778520 | 71760110 | CATATATG others(23): Show |
C | intron_variant | MODIFIER | HG00280.hp2 NA18943.hp2 NA19079.hp1 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0004a0001c0001t0048a0003c0005t0004 | a0001c0001t0004g0269 a0001c0001t0048g0268 a0003c0005t0004g0295 |
3 | 419 | 0.0072 | -30 | c.568 others(45): Show |
VSIR | ENSG00000107738.20 | transcript | ENST00000394957.8 | protein_coding | 3/6 | chr10 | TogoVar | |||||||
VSIR_chr10_71742556_71778520 | 71760219 | GTGTATAT others(23): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(76): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0009others(52): Show | a0001c0001t0003g0272 a0001c0001t0006g0153 a0001c0001t0006g0159 others(61): Show |
79 | 460 | 0.1717 | -30 | c.568 others(45): Show |
VSIR | ENSG00000107738.20 | transcript | ENST00000394957.8 | protein_coding | 3/6 | chr10 | TogoVar | |||||||
VWA1_chr1_1430690_1447882 | 1443673 | CTTTTTTT others(23): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02572.hp1 HG02809.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0002 | a0001c0001t0004g0020 a0001c0001t0004g0039 a0001c0002t0002g0002 others(1): Show |
4 | 6 | 0.6667 | -30 | c.*38 others(41): Show |
VWA1 | ENSG00000179403.12 | transcript | ENST00000476993.2 | protein_coding | 792 | chr1 | TogoVar | |||||||
VWA3A_chr16_22087541_22161964 | 22115898 | GAAGGAAG others(23): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG01099.hp2 HG01167.hp2 others(23): Show |
a0001a0002a0005others(5): Show | a0001c0001a0002c0002a0005c0005others(5): Show | a0001c0001t0001a0002c0002t0001a0005c0005t0001others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 others(23): Show |
26 | 291 | 0.0893 | -30 | c.815 others(45): Show |
VWA3A | ENSG00000175267.15 | transcript | ENST00000389398.10 | protein_coding | 9/33 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VWA3B_chr2_98082167_98318299 | 98089658 | TTTTCCAG others(23): Show |
T | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 238 | 0.0042 | -30 | c.-33 others(47): Show |
VWA3B | ENSG00000168658.20 | transcript | ENST00000477737.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VWA5B1_chr1_20285875_20364518 | 20332479 | CAAAATAA others(23): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp2 NA18941.hp1 others(2): Show |
a0002a0013 | a0002c0002a0013c0016 | a0002c0002t0001a0013c0016t0001 | a0002c0002t0001g0170 a0002c0002t0001g0257 a0013c0016t0001g0259 others(2): Show |
5 | 46 | 0.1087 | -30 | c.157 others(47): Show |
VWA5B1 | ENSG00000158816.16 | transcript | ENST00000289815.13 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |