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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UTRN_chr6_144280335_144858034 | 144735481 | TCAGAGGA others(15): Show |
T | intron_variant | MODIFIER | NA18970.hp1 | a0002 | a0002c0007 | a0002c0007t0008 | a0002c0007t0008g0030 | 1 | 128 | 0.0078 | -22 | c.793 others(41): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 54/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
UTRN_chr6_144280335_144858034 | 144824572 | TTATATAT others(15): Show |
T | intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0038 | 1 | 128 | 0.0078 | -22 | c.949 others(41): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 66/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
UTS2R_chr17_82366765_82382458 | 82379431 | CAAAAAAA others(15): Show |
C | downstream_gene_variant | MODIFIER | HG02109.hp2 HG03491.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0024a0001c0002t0019 | a0001c0001t0024g0001a0001c0002t0019g0004 | 2 | 384 | 0.0052 | -22 | c.*39 others(33): Show |
UTS2R | ENSG00000181408.5 | transcript | ENST00000313135.5 | protein_coding | 1974 | chr17 | TogoVar | ||||||
UVRAG_chr11_75810210_76149232 | 75828732 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02622.hp1 HG02630.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0011a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0135a0001c0001t0002g0136a0001c0001t0003g0140others(6): Show | 9 | 146 | 0.0616 | -22 | c.117 others(41): Show |
UVRAG | ENSG00000198382.9 | transcript | ENST00000356136.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
UVRAG_chr11_75810210_76149232 | 75974331 | GTTGGCTG others(15): Show |
G | intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0067 | 1 | 146 | 0.0069 | -22 | c.700 others(39): Show |
UVRAG | ENSG00000198382.9 | transcript | ENST00000356136.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
UVRAG_chr11_75810210_76149232 | 76093201 | ATTTTGGT others(15): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0128 | 1 | 146 | 0.0069 | -22 | c.130 others(43): Show |
UVRAG | ENSG00000198382.9 | transcript | ENST00000356136.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
VAMP4_chr1_171695160_171747065 | 171703425 | GTATATAT others(15): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG01496.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0032a0001c0001t0052a0001c0001t0115 | a0001c0001t0032g0017a0001c0001t0052g0046a0001c0001t0115g0079 | 4 | 366 | 0.0109 | -22 | c.*10 others(33): Show |
VAMP4 | ENSG00000117533.15 | transcript | ENST00000236192.12 | protein_coding | 8/8 | 1059 | chr1 | TogoVar | |||||
VAMP4_chr1_171695160_171747065 | 171703448 | TATATATA others(15): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0227 | 1 | 366 | 0.0027 | -22 | c.*10 others(33): Show |
VAMP4 | ENSG00000117533.15 | transcript | ENST00000236192.12 | protein_coding | 8/8 | 1036 | chr1 | TogoVar | |||||
VAV1_chr19_6767708_6862361 | 6836833 | GACACACA others(15): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(167): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0019a0001c0001t0001g0022others(167): Show | 170 | 306 | 0.5556 | -22 | c.191 others(39): Show |
VAV1 | ENSG00000141968.8 | transcript | ENST00000602142.6 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
VAV1_chr19_6767708_6862361 | 6844063 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02886.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083a0001c0001t0001g0086a0001c0001t0001g0235 | 3 | 306 | 0.0098 | -22 | c.201 others(39): Show |
VAV1 | ENSG00000141968.8 | transcript | ENST00000602142.6 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
VAV2_chr9_133756894_133997324 | 133780624 | TTCTGGCT others(15): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02080.hp1 others(2): Show |
a0001a0002 | a0001c0002a0001c0006a0001c0017others(2): Show | a0001c0002t0036a0001c0006t0002a0001c0017t0028others(2): Show | a0001c0002t0036g0089a0001c0006t0002g0012a0001c0017t0028g0112others(2): Show | 5 | 200 | 0.0250 | -22 | c.174 others(37): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 20/29 | chr9 | TogoVar | ||||||
VAV3_chr1_107566161_107970180 | 107575000 | TGCGCGCG others(15): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG02683.hp1 HG04199.hp1 others(3): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0003t0001a0002c0003t0004 | a0002c0002t0001g0127a0002c0002t0001g0138a0002c0002t0001g0166others(3): Show | 6 | 210 | 0.0286 | -22 | c.235 others(39): Show |
VAV3 | ENSG00000134215.16 | transcript | ENST00000370056.9 | protein_coding | 25/26 | chr1 | TogoVar | ||||||
VAV3_chr1_107566161_107970180 | 107731583 | GAAGAATC others(15): Show |
G | intron_variant | MODIFIER | HG03710.hp2 | a0003 | a0003c0004 | a0003c0004t0014 | a0003c0004t0014g0075 | 1 | 210 | 0.0048 | -22 | c.150 others(43): Show |
VAV3 | ENSG00000134215.16 | transcript | ENST00000370056.9 | protein_coding | 15/26 | chr1 | TogoVar | ||||||
VAV3_chr1_107566161_107970180 | 107813967 | AGTGTGTG others(15): Show |
A | intron_variant | MODIFIER | NA18983.hp1 NA18995.hp2 NA19084.hp1 |
a0002a0003 | a0002c0003a0003c0006 | a0002c0003t0002a0003c0006t0001 | a0002c0003t0002g0153a0002c0003t0002g0191a0003c0006t0001g0192 | 3 | 210 | 0.0143 | -22 | c.322 others(41): Show |
VAV3 | ENSG00000134215.16 | transcript | ENST00000370056.9 | protein_coding | 2/26 | chr1 | TogoVar | ||||||
VAX2_chr2_70895576_70938446 | 70922189 | TCAGCCAG others(15): Show |
T | intron_variant | MODIFIER | NA18980.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0136 | 1 | 426 | 0.0024 | -22 | c.435 others(37): Show |
VAX2 | ENSG00000116035.4 | transcript | ENST00000234392.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
VCX3B_chrX_8459830_8471510 | 8466704 | AGGGAGGG others(15): Show |
A | downstream_gene_variant | MODIFIER | HG02135.hp1 NA18959.hp1 |
a0013a0016 | a0013c0013a0016c0016 | a0013c0013t0003a0016c0016t0005 | a0013c0013t0003g0004a0016c0016t0005g0005 | 2 | 271 | 0.0074 | -22 | c.*32 others(31): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 195 | chrX | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8466738 | AGGAAGAG others(15): Show |
A | downstream_gene_variant | MODIFIER | HG02451.hp1 HG02622.hp1 NA18906.hp1 |
a0021 | a0021c0021 | a0021c0021t0001 | a0021c0021t0001g0001a0021c0021t0001g0014 | 3 | 271 | 0.0111 | -22 | c.*35 others(31): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 229 | chrX | TogoVar | ||||||
VCX_chrX_7838171_7849143 | 7844144 | TCTGAGTG others(15): Show |
T | downstream_gene_variant | MODIFIER | NA19075.hp1 | a0020 | a0020c0019 | a0020c0019t0017 | a0020c0019t0017g0001 | 1 | 341 | 0.0029 | -22 | c.*12 others(31): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 2 | chrX | TogoVar | ||||||
VDR_chr12_47836537_47909994 | 47859901 | CCTTCCTT others(15): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG00738.hp1 HG02109.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0007a0001c0003t0002a0001c0003t0009others(3): Show | a0001c0001t0007g0074a0001c0003t0002g0145a0001c0003t0002g0289others(4): Show | 7 | 358 | 0.0196 | -22 | c.278 others(39): Show |
VDR | ENSG00000111424.12 | transcript | ENST00000549336.6 | protein_coding | 4/9 | chr12 | TogoVar | ||||||
VDR_chr12_47836537_47909994 | 47859902 | CTTCCTTC others(15): Show |
C | intron_variant | MODIFIER | HG01433.hp1 HG03098.hp2 HG03225.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0013others(1): Show | a0001c0001t0028a0001c0001t0029a0001c0003t0002others(2): Show | a0001c0001t0028g0282a0001c0001t0029g0319a0001c0003t0002g0150others(3): Show | 6 | 358 | 0.0168 | -22 | c.278 others(39): Show |
VDR | ENSG00000111424.12 | transcript | ENST00000549336.6 | protein_coding | 4/9 | chr12 | TogoVar | ||||||
VDR_chr12_47836537_47909994 | 47859906 | CTTCCTTC others(15): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG04184.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0015a0002c0004t0002 | a0001c0001t0015g0337a0002c0004t0002g0015 | 2 | 358 | 0.0056 | -22 | c.278 others(39): Show |
VDR | ENSG00000111424.12 | transcript | ENST00000549336.6 | protein_coding | 4/9 | chr12 | TogoVar | ||||||
VDR_chr12_47836537_47909994 | 47859910 | CTTCCTTC others(15): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0039a0002c0002t0006g0040 | 2 | 358 | 0.0056 | -22 | c.278 others(39): Show |
VDR | ENSG00000111424.12 | transcript | ENST00000549336.6 | protein_coding | 4/9 | chr12 | TogoVar | ||||||
VEGFB_chr11_64229584_64244264 | 64237085 | AAGAGAGA others(15): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 2 | 328 | 0.0061 | -22 | c.375 others(35): Show |
VEGFB | ENSG00000173511.10 | transcript | ENST00000309422.7 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
VEGFC_chr4_176678538_176797922 | 176795320 | AACACACA others(15): Show |
A | upstream_gene_variant | MODIFIER | HG02280.hp1 HG04115.hp2 NA19000.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0135a0001c0001t0002g0184a0001c0001t0002g0187others(1): Show | 4 | 224 | 0.0179 | -22 | c.-30 others(33): Show |
VEGFC | ENSG00000150630.4 | transcript | ENST00000618562.2 | protein_coding | 2399 | chr4 | TogoVar | ||||||
VEPH1_chr3_157254742_157508416 | 157378306 | GTATATAT others(15): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00609.hp2 others(31): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0010others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(14): Show | a0001c0001t0001g0068a0001c0001t0001g0159a0001c0001t0001g0161others(31): Show | 34 | 304 | 0.1118 | -22 | c.112 others(41): Show |
VEPH1 | ENSG00000197415.12 | transcript | ENST00000362010.7 | protein_coding | 7/13 | chr3 | TogoVar | ||||||
VEZT_chr12_95212807_95307799 | 95225761 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0337 | 1 | 426 | 0.0024 | -22 | c.36+ others(37): Show |
VEZT | ENSG00000028203.19 | transcript | ENST00000436874.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
VGLL3_chr3_86932973_86996149 | 86966771 | GTGTATAT others(15): Show |
G | intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 370 | 0.0027 | -22 | c.937 others(39): Show |
VGLL3 | ENSG00000206538.9 | transcript | ENST00000398399.7 | protein_coding | 3/3 | chr3 | TogoVar | ||||||
VGLL4_chr3_11551069_11648915 | 11573369 | AAGAAAGA others(15): Show |
A | intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 388 | 0.0026 | -22 | c.273 others(39): Show |
VGLL4 | ENSG00000144560.16 | transcript | ENST00000430365.7 | protein_coding | 2/4 | chr3 | TogoVar | ||||||
VIL1_chr2_218414123_218458295 | 218415943 | CTCTCTCT others(15): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0078 | 1 | 336 | 0.0030 | -22 | c.-32 others(33): Show |
VIL1 | ENSG00000127831.11 | transcript | ENST00000248444.10 | protein_coding | 3179 | chr2 | TogoVar | ||||||
VIL1_chr2_218414123_218458295 | 218415951 | CTCTCTCT others(15): Show |
C | upstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0023 | 1 | 336 | 0.0030 | -22 | c.-32 others(33): Show |
VIL1 | ENSG00000127831.11 | transcript | ENST00000248444.10 | protein_coding | 3171 | chr2 | TogoVar | ||||||
VIL1_chr2_218414123_218458295 | 218415953 | CTCTCTCT others(15): Show |
C | upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0023 | 1 | 336 | 0.0030 | -22 | c.-32 others(33): Show |
VIL1 | ENSG00000127831.11 | transcript | ENST00000248444.10 | protein_coding | 3169 | chr2 | TogoVar | ||||||
VIRMA_chr8_94482689_94558469 | 94507940 | TATATGTG others(15): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG02071.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005a0001c0002t0001g0120a0001c0002t0001g0122others(4): Show | 9 | 346 | 0.0260 | -22 | c.388 others(41): Show |
VIRMA | ENSG00000164944.12 | transcript | ENST00000297591.10 | protein_coding | 15/23 | chr8 | TogoVar | ||||||
VIRMA_chr8_94482689_94558469 | 94555870 | CATATATA others(15): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00597.hp2 others(49): Show |
a0001a0010a0011 | a0001c0001a0001c0006a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0006t0002others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0019a0001c0001t0001g0020others(40): Show | 52 | 346 | 0.1503 | -22 | c.-24 others(33): Show |
VIRMA | ENSG00000164944.12 | transcript | ENST00000297591.10 | protein_coding | 2402 | chr8 | TogoVar | ||||||
VKORC1L1_chr7_65868074_65964558 | 65895472 | AAAAAAAA others(15): Show |
A | intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0334 | 1 | 350 | 0.0029 | -22 | c.194 others(41): Show |
VKORC1L1 | ENSG00000196715.7 | transcript | ENST00000360768.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
VKORC1L1_chr7_65868074_65964558 | 65900042 | CGTGTGTG others(15): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(117): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(11): Show | a0001c0001t0002g0011a0001c0001t0002g0012a0001c0001t0002g0077others(117): Show | 120 | 350 | 0.3429 | -22 | c.194 others(41): Show |
VKORC1L1 | ENSG00000196715.7 | transcript | ENST00000360768.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
VPS13B_chr8_99008274_99882580 | 99540013 | TTATATAT others(15): Show |
T | intron_variant | MODIFIER | HG01891.hp1 | a0005 | a0005c0022 | a0005c0022t0004 | a0005c0022t0004g0123 | 1 | 134 | 0.0075 | -22 | c.474 others(43): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 30/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
VPS13B_chr8_99008274_99882580 | 99540047 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 134 | 0.0075 | -22 | c.474 others(43): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 30/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
VPS13B_chr8_99008274_99882580 | 99540051 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG03453.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0087 | 1 | 134 | 0.0075 | -22 | c.474 others(43): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 30/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
VPS13B_chr8_99008274_99882580 | 99821103 | AACACACA others(15): Show |
A | intron_variant | MODIFIER | HG02074.hp1 NA18906.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0065a0001c0002t0001g0077 | 2 | 134 | 0.0149 | -22 | c.899 others(39): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 49/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
VPS26C_chr21_37218422_37272334 | 37267351 | GGGGCGCC others(15): Show |
G | upstream_gene_variant | MODIFIER | HG02809.hp1 HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0310a0001c0001t0005g0311a0001c0001t0005g0312 | 3 | 396 | 0.0076 | -22 | c.-79 others(29): Show |
VPS26C | ENSG00000157538.14 | transcript | ENST00000309117.11 | protein_coding | 18 | chr21 | TogoVar | ||||||
VPS35L_chr16_19550703_19706163 | 19570834 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | HG01361.hp2 HG01891.hp1 HG02486.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0011a0001c0001t0001g0171a0001c0001t0001g0198others(14): Show | 17 | 284 | 0.0599 | -22 | c.285 others(39): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 3/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
VPS35L_chr16_19550703_19706163 | 19654342 | CCACTAGG others(15): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02451.hp1 others(15): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0015a0001c0001t0001g0174others(15): Show | 18 | 284 | 0.0634 | -22 | c.222 others(41): Show |
VPS35L | ENSG00000103544.17 | transcript | ENST00000417362.7 | protein_coding | 26/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
VPS41_chr7_38717974_38914191 | 38720552 | GTGTGTGT others(15): Show |
G | downstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0190 | 1 | 278 | 0.0036 | -22 | c.*56 others(33): Show |
VPS41 | ENSG00000006715.16 | transcript | ENST00000310301.9 | protein_coding | 2421 | chr7 | TogoVar | ||||||
VPS4A_chr16_69306350_69331939 | 69310070 | GTTTTTTT others(15): Show |
G | upstream_gene_variant | MODIFIER | HG01433.hp2 HG02257.hp2 HG02809.hp1 others(6): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0004a0001c0004t0012a0001c0004t0020others(1): Show | a0001c0003t0004g0054a0001c0003t0004g0063a0001c0003t0004g0202others(4): Show | 9 | 366 | 0.0246 | -22 | c.-14 others(33): Show |
VPS4A | ENSG00000132612.16 | transcript | ENST00000254950.13 | protein_coding | 1279 | chr16 | TogoVar | ||||||
VPS4B_chr18_63384190_63427476 | 63416775 | ACCCTTCC others(15): Show |
A | intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 | 1 | 386 | 0.0026 | -22 | c.28- others(37): Show |
VPS4B | ENSG00000119541.10 | transcript | ENST00000238497.10 | protein_coding | 1/10 | chr18 | TogoVar | ||||||
VPS52_chr6_33245278_33276876 | 33256463 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG01243.hp1 HG02040.hp1 others(15): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0005a0001c0003t0003others(1): Show | a0001c0001t0001g0139a0001c0001t0001g0153a0001c0001t0001g0166others(13): Show | 18 | 325 | 0.0554 | -22 | c.179 others(41): Show |
VPS52 | ENSG00000223501.9 | transcript | ENST00000445902.3 | protein_coding | 17/19 | chr6 | TogoVar | ||||||
VPS53_chr17_503668_719839 | 610127 | TCACACAC others(15): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00438.hp2 others(32): Show |
a0001a0002a0004others(1): Show | a0001c0002a0002c0003a0004c0008others(1): Show | a0001c0002t0001a0002c0003t0008a0002c0003t0009others(23): Show | a0001c0002t0001g0094a0002c0003t0008g0180a0002c0003t0008g0182others(32): Show | 35 | 232 | 0.1509 | -22 | c.111 others(41): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 11/21 | chr17 | TogoVar | ||||||
VPS8_chr3_184807166_185057604 | 184962724 | AGTGTGTG others(15): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00741.hp1 HG01109.hp2 others(3): Show |
a0003 | a0003c0009a0003c0032 | a0003c0009t0001a0003c0009t0010a0003c0032t0004 | a0003c0009t0001g0043a0003c0009t0001g0045a0003c0009t0001g0072others(3): Show | 6 | 274 | 0.0219 | -22 | c.318 others(41): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 37/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
VPS8_chr3_184807166_185057604 | 184998479 | TTATATAT others(15): Show |
T | intron_variant | MODIFIER | HG03540.hp2 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0076 | 1 | 274 | 0.0037 | -22 | c.383 others(41): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 44/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
VSTM1_chr19_54035825_54068897 | 54042817 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00639.hp2 others(4): Show |
a0002 | a0002c0002a0002c0006 | a0002c0002t0001a0002c0006t0002 | a0002c0002t0001g0209a0002c0002t0001g0210a0002c0002t0001g0212others(4): Show | 7 | 441 | 0.0159 | -22 | c.395 others(37): Show |
VSTM1 | ENSG00000189068.11 | transcript | ENST00000338372.7 | protein_coding | 4/8 | chr19 | TogoVar |