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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VGLL4_chr3_11551069_11648915 | 11627595 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG01070.hp1 HG01071.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(1): Show | a0001c0001t0001g0054 a0001c0001t0002g0275 a0001c0001t0002g0309 others(3): Show |
6 | 388 | 0.0155 | -8 | c.82+ others(25): Show |
VGLL4 | ENSG00000144560.16 | transcript | ENST00000430365.7 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
VHLL_chr1_156293624_156304307 | 156296607 | TAGAGAGA others(1): Show |
T | downstream_gene_variant | MODIFIER | HG03486.hp1 HG03579.hp2 NA18612.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0000 a0001c0001t0003g0000 |
4 | 388 | 0.0103 | -8 | c.*21 others(19): Show |
VHLL | ENSG00000189030.10 | transcript | ENST00000339922.5 | protein_coding | 2016 | chr1 | TogoVar | |||||||
VHL_chr3_10136778_10158667 | 10152481 | CTTTTTTT others(1): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02280.hp1 HG02572.hp1 HG02723.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0025a0001c0001t0050 | a0001c0001t0016g0015 a0001c0001t0016g0071 a0001c0001t0025g0015 others(1): Show |
7 | 408 | 0.0172 | -8 | c.*25 others(19): Show |
VHL | ENSG00000134086.9 | transcript | ENST00000256474.3 | protein_coding | 3/3 | 2538 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
VIL1_chr2_218414123_218458295 | 218415911 | ATCTCTCT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01993.hp1 HG03834.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0002 a0001c0001t0003g0047 a0001c0001t0003g0060 others(1): Show |
4 | 336 | 0.0119 | -8 | c.-32 others(19): Show |
VIL1 | ENSG00000127831.11 | transcript | ENST00000248444.10 | protein_coding | 3211 | chr2 | TogoVar | |||||||
VIL1_chr2_218414123_218458295 | 218415957 | CTCTCTCT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00642.hp1 HG02080.hp2 HG02683.hp2 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0003a0001c0013t0004 | a0001c0001t0003g0059 a0001c0001t0003g0062 a0001c0013t0004g0002 |
3 | 336 | 0.0089 | -8 | c.-32 others(19): Show |
VIL1 | ENSG00000127831.11 | transcript | ENST00000248444.10 | protein_coding | 3165 | chr2 | TogoVar | |||||||
VIL1_chr2_218414123_218458295 | 218416187 | CTCTCTAT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02486.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008 | 3 | 336 | 0.0089 | -8 | c.-29 others(19): Show |
VIL1 | ENSG00000127831.11 | transcript | ENST00000248444.10 | protein_coding | 2935 | chr2 | TogoVar | |||||||
VIPR1_chr3_42497643_42542568 | 42514566 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG02809.hp2 HG02922.hp2 HG02976.hp1 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0006a0001c0010t0006 | a0001c0001t0006g0360 a0001c0010t0006g0357 a0001c0010t0006g0358 |
3 | 412 | 0.0073 | -8 | c.184 others(23): Show |
VIPR1 | ENSG00000114812.13 | transcript | ENST00000325123.5 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VIPR1_chr3_42497643_42542568 | 42522099 | ATATTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG02572.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(2): Show | a0001c0001t0001g0053 a0001c0002t0001g0011 a0001c0002t0001g0077 others(5): Show |
9 | 412 | 0.0218 | -8 | c.292 others(25): Show |
VIPR1 | ENSG00000114812.13 | transcript | ENST00000325123.5 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VIPR2_chr7_159023175_159149867 | 159048160 | TCTAATCA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00673.hp2 HG00735.hp2 others(32): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0004a0001c0001t0032a0001c0003t0004others(4): Show | a0001c0001t0004g0194 a0001c0001t0032g0193 a0001c0003t0004g0139 others(31): Show |
35 | 336 | 0.1042 | -8 | c.456 others(25): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 5/12 | chr7 | TogoVar | |||||||
VIPR2_chr7_159023175_159149867 | 159135023 | TTTTTTTT others(1): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp2 HG02559.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0010a0001c0002t0007a0001c0004t0004others(6): Show | a0001c0001t0010g0221 a0001c0002t0007g0007 a0001c0002t0007g0087 others(12): Show |
15 | 336 | 0.0446 | -8 | c.151 others(25): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 2/12 | chr7 | TogoVar | |||||||
VIP_chr6_152745797_152764760 | 152763370 | AACACACA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp2 others(96): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0002g0002 others(13): Show |
99 | 432 | 0.2292 | -8 | c.*45 others(19): Show |
VIP | ENSG00000146469.13 | transcript | ENST00000367244.8 | protein_coding | 3611 | chr6 | TogoVar | |||||||
VIRMA_chr8_94482689_94558469 | 94509625 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00735.hp1 HG01069.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0017 others(35): Show |
43 | 346 | 0.1243 | -8 | c.387 others(23): Show |
VIRMA | ENSG00000164944.12 | transcript | ENST00000297591.10 | protein_coding | 15/23 | chr8 | TogoVar | |||||||
VIRMA_chr8_94482689_94558469 | 94555870 | CATATATA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG01517.hp1 HG01978.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0225 a0001c0001t0001g0227 others(23): Show |
26 | 346 | 0.0751 | -8 | c.-24 others(19): Show |
VIRMA | ENSG00000164944.12 | transcript | ENST00000297591.10 | protein_coding | 2402 | chr8 | TogoVar | |||||||
VIT_chr2_36691707_36819794 | 36699296 | CCTATGGT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(259): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0008others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 others(258): Show |
262 | 328 | 0.7988 | -8 | c.-19 others(25): Show |
VIT | ENSG00000205221.13 | transcript | ENST00000379242.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VIT_chr2_36691707_36819794 | 36717334 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00558.hp1 others(42): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0067 others(42): Show |
45 | 328 | 0.1372 | -8 | c.52+ others(21): Show |
VIT | ENSG00000205221.13 | transcript | ENST00000379242.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VIT_chr2_36691707_36819794 | 36728822 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG00741.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 a0001c0001t0001g0203 a0001c0001t0001g0206 others(4): Show |
7 | 328 | 0.0213 | -8 | c.53- others(21): Show |
VIT | ENSG00000205221.13 | transcript | ENST00000379242.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VIT_chr2_36691707_36819794 | 36775750 | CCTCAGAG others(1): Show |
C | intron_variant | MODIFIER | HG02622.hp2 HG02647.hp2 NA19240.hp2 |
a0001a0003 | a0001c0001a0001c0004a0003c0003 | a0001c0001t0002a0001c0004t0003a0003c0003t0002 | a0001c0001t0002g0275 a0001c0004t0003g0169 a0003c0003t0002g0326 |
3 | 328 | 0.0092 | -8 | c.802 others(23): Show |
VIT | ENSG00000205221.13 | transcript | ENST00000379242.8 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VKORC1L1_chr7_65868074_65964558 | 65900042 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG01258.hp1 HG02615.hp1 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023 | a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0233 others(1): Show |
4 | 350 | 0.0114 | -8 | c.194 others(27): Show |
VKORC1L1 | ENSG00000196715.7 | transcript | ENST00000360768.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
VLDLR_chr9_2616787_2665056 | 2633045 | AGAGAGAG others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(18): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0002g0072 a0001c0001t0002g0077 a0001c0001t0003g0206 others(18): Show |
21 | 392 | 0.0536 | -8 | c.83- others(23): Show |
VLDLR | ENSG00000147852.17 | transcript | ENST00000382100.8 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VLDLR_chr9_2616787_2665056 | 2633047 | AGAGAGTG others(1): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01175.hp2 HG01243.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0008a0001c0001t0009a0001c0001t0024others(3): Show | a0001c0001t0008g0129 a0001c0001t0009g0248 a0001c0001t0024g0193 others(3): Show |
6 | 392 | 0.0153 | -8 | c.83- others(23): Show |
VLDLR | ENSG00000147852.17 | transcript | ENST00000382100.8 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VMA21_chrX_151392206_151414364 | 151394212 | GAAATAAA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(144): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(46): Show |
147 | 288 | 0.5104 | -8 | c.-30 others(19): Show |
VMA21 | ENSG00000160131.14 | transcript | ENST00000330374.7 | protein_coding | 2993 | chrX | TogoVar | |||||||
VMP1_chr17_59702654_59847255 | 59757238 | GAGATAGA others(1): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG00673.hp2 HG00738.hp2 others(59): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(59): Show |
62 | 286 | 0.2168 | -8 | c.415 others(25): Show |
VMP1 | ENSG00000062716.13 | transcript | ENST00000262291.9 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
VMP1_chr17_59702654_59847255 | 59772950 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00544.hp1 others(94): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0076 a0001c0001t0001g0077 others(94): Show |
97 | 286 | 0.3392 | -8 | c.583 others(23): Show |
VMP1 | ENSG00000062716.13 | transcript | ENST00000262291.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
VMP1_chr17_59702654_59847255 | 59774421 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00544.hp1 others(76): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 others(76): Show |
79 | 286 | 0.2762 | -8 | c.714 others(23): Show |
VMP1 | ENSG00000062716.13 | transcript | ENST00000262291.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
VMP1_chr17_59702654_59847255 | 59794517 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01256.hp2 HG01981.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0139 a0001c0001t0001g0177 a0001c0001t0001g0222 others(4): Show |
7 | 286 | 0.0245 | -8 | c.715 others(27): Show |
VMP1 | ENSG00000062716.13 | transcript | ENST00000262291.9 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
VMP1_chr17_59702654_59847255 | 59809484 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02615.hp1 HG02630.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 others(7): Show |
10 | 286 | 0.0350 | -8 | c.795 others(23): Show |
VMP1 | ENSG00000062716.13 | transcript | ENST00000262291.9 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
VMP1_chr17_59702654_59847255 | 59817246 | CCTGGGCA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(178): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(178): Show |
181 | 286 | 0.6329 | -8 | c.913 others(23): Show |
VMP1 | ENSG00000062716.13 | transcript | ENST00000262291.9 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
VN1R4_chr19_53261676_53272723 | 53268125 | GACACACA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00544.hp1 HG01167.hp2 HG01175.hp1 others(22): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0000 a0002c0002t0001g0000 a0003c0003t0001g0000 |
25 | 456 | 0.0548 | -8 | c.-46 others(17): Show |
VN1R4 | ENSG00000228567.3 | transcript | ENST00000311170.5 | protein_coding | 403 | chr19 | TogoVar | |||||||
VOPP1_chr7_55465613_55577502 | 55482482 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(56): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0009 | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 others(55): Show |
59 | 318 | 0.1855 | -8 | c.329 others(25): Show |
VOPP1 | ENSG00000154978.13 | transcript | ENST00000285279.10 | protein_coding | 4/4 | chr7 | TogoVar | |||||||
VOPP1_chr7_55465613_55577502 | 55505651 | AAGGGAGG others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(83): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0016 a0001c0001t0001g0066 a0001c0001t0001g0067 others(83): Show |
86 | 318 | 0.2704 | -8 | c.114 others(25): Show |
VOPP1 | ENSG00000154978.13 | transcript | ENST00000285279.10 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
VOPP1_chr7_55465613_55577502 | 55516905 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02723.hp2 HG03471.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0140 others(10): Show |
13 | 318 | 0.0409 | -8 | c.113 others(25): Show |
VOPP1 | ENSG00000154978.13 | transcript | ENST00000285279.10 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
VOPP1_chr7_55465613_55577502 | 55539899 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01261.hp1 HG01433.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(7): Show |
10 | 318 | 0.0315 | -8 | c.55- others(25): Show |
VOPP1 | ENSG00000154978.13 | transcript | ENST00000285279.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
VOPP1_chr7_55465613_55577502 | 55540398 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01433.hp2 HG02572.hp2 HG02647.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(8): Show |
11 | 318 | 0.0346 | -8 | c.55- others(25): Show |
VOPP1 | ENSG00000154978.13 | transcript | ENST00000285279.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
VOPP1_chr7_55465613_55577502 | 55553756 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(65): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0018 a0001c0001t0001g0061 a0001c0001t0001g0062 others(65): Show |
68 | 318 | 0.2138 | -8 | c.54+ others(25): Show |
VOPP1 | ENSG00000154978.13 | transcript | ENST00000285279.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
VPREB3_chr22_23747743_23759425 | 23749348 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(41): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0002c0002t0001a0004c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(6): Show |
44 | 434 | 0.1014 | -8 | c.*35 others(19): Show |
VPREB3 | ENSG00000128218.8 | transcript | ENST00000248948.4 | protein_coding | 3394 | chr22 | TogoVar | |||||||
VPS11_chr11_119062818_119086972 | 119066563 | TAAAAAAA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02258.hp2 others(4): Show |
a0002 | a0002c0006a0002c0008a0002c0019 | a0002c0006t0002a0002c0008t0002a0002c0019t0002 | a0002c0006t0002g0122 a0002c0006t0002g0123 a0002c0006t0002g0125 others(4): Show |
7 | 356 | 0.0197 | -8 | c.-12 others(19): Show |
VPS11 | ENSG00000160695.16 | transcript | ENST00000621676.5 | protein_coding | 1254 | chr11 | TogoVar | |||||||
VPS11_chr11_119062818_119086972 | 119086692 | TATACACA others(1): Show |
T | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01106.hp2 HG01517.hp1 others(4): Show |
a0001a0008 | a0001c0001a0008c0032 | a0001c0001t0001a0008c0032t0001 | a0001c0001t0001g0027 a0001c0001t0001g0045 a0001c0001t0001g0162 others(4): Show |
7 | 356 | 0.0197 | -8 | c.*50 others(19): Show |
VPS11 | ENSG00000160695.16 | transcript | ENST00000621676.5 | protein_coding | 4721 | chr11 | TogoVar | |||||||
VPS13A_chr9_77172534_77426537 | 77207213 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02717.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0136 a0001c0001t0007g0131 a0001c0001t0007g0140 others(1): Show |
4 | 348 | 0.0115 | -8 | c.385 others(25): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 5/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13A_chr9_77172534_77426537 | 77401329 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG02004.hp1 HG02074.hp2 HG02165.hp1 others(34): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0023others(9): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0016others(16): Show | a0001c0001t0002g0130 a0001c0001t0002g0183 a0001c0001t0003g0084 others(34): Show |
37 | 348 | 0.1063 | -8 | c.919 others(27): Show |
VPS13A | ENSG00000197969.14 | transcript | ENST00000360280.8 | protein_coding | 68/71 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99044853 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00609.hp1 others(38): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0016others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0064 a0001c0001t0001g0082 a0001c0001t0001g0116 others(38): Show |
41 | 134 | 0.3060 | -8 | c.291 others(25): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 3/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99128386 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02976.hp1 others(3): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0007a0004c0023others(2): Show | a0001c0001t0001a0001c0001t0002a0003c0007t0005others(3): Show | a0001c0001t0001g0064 a0001c0001t0002g0068 a0003c0007t0005g0052 others(3): Show |
6 | 134 | 0.0448 | -8 | c.120 others(27): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 8/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99250664 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG01884.hp2 HG01981.hp2 others(6): Show |
a0001a0003a0011others(1): Show | a0001c0001a0003c0004a0003c0006others(3): Show | a0001c0001t0001a0003c0004t0001a0003c0006t0004others(3): Show | a0001c0001t0001g0108 a0003c0004t0001g0050 a0003c0004t0001g0087 others(6): Show |
9 | 134 | 0.0672 | -8 | c.251 others(29): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 17/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99287224 | ATCTGTCT others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp2 others(25): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0082 others(25): Show |
28 | 134 | 0.2090 | -8 | c.282 others(29): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99287228 | GTCTGTCT others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG01978.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0027 a0001c0002t0002g0001 |
2 | 134 | 0.0149 | -8 | c.282 others(29): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99287232 | GTCTATCT others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(17): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0008others(7): Show | a0001c0001t0002a0001c0002t0001a0001c0008t0005others(7): Show | a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0043 others(17): Show |
20 | 134 | 0.1493 | -8 | c.282 others(29): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99289032 | TATGAATG others(1): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02895.hp1 HG02922.hp1 others(1): Show |
a0003 | a0003c0005 | a0003c0005t0004a0003c0005t0006 | a0003c0005t0004g0130 a0003c0005t0004g0132 a0003c0005t0006g0129 others(1): Show |
4 | 134 | 0.0299 | -8 | c.282 others(29): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99326452 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG00741.hp2 others(4): Show |
a0001a0003a0010 | a0001c0001a0001c0002a0003c0033others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0002t0001g0047 others(4): Show |
7 | 134 | 0.0522 | -8 | c.282 others(29): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99360120 | ATCTTTCT others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG01515.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0119 a0001c0001t0002g0043 a0001c0001t0002g0056 others(4): Show |
7 | 134 | 0.0522 | -8 | c.282 others(29): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99360204 | CTCTCTCT others(1): Show |
C | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0003a0015 | a0003c0033a0015c0032 | a0003c0033t0006a0015c0032t0006 | a0003c0033t0006g0134 a0015c0032t0006g0133 |
2 | 134 | 0.0149 | -8 | c.282 others(29): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99360208 | CTCTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG02965.hp1 NA19058.hp1 NA19066.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0002c0003t0003a0002c0003t0007 | a0001c0001t0004g0101 a0002c0003t0003g0113 a0002c0003t0007g0069 |
3 | 134 | 0.0224 | -8 | c.282 others(29): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |