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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LPIN1_chr2_11741632_11832409 | 11775777 | T | TTCTTTAT others(2304): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 278 | 0.0036 | 2311 | c.723 others(2326): Show |
LPIN1 | ENSG00000134324.12 | transcript | ENST00000674199.1 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2304): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0074 | a0074c0122 | a0074c0122t0001 | a0074c0122t0001g0078 | 1 | 216 | 0.0046 | 2311 | c.801 others(2328): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2304): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0003 | a0003c0043 | a0003c0043t0001 | a0003c0043t0001g0206 | 1 | 216 | 0.0046 | 2311 | c.801 others(2328): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2304): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 216 | 0.0046 | 2311 | c.801 others(2328): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PTPN6_chr12_6946356_6966316 | 6949994 | C | CTGGTCTC others(2304): Show |
upstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 385 | 0.0026 | 2311 | c.-15 others(2322): Show |
PTPN6 | ENSG00000111679.17 | transcript | ENST00000318974.14 | protein_coding | 1361 | chr12 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 415395 | G | GTCTGCCT others(2305): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0008 | 1 | 268 | 0.0037 | 2312 | c.441 others(2329): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79200733 | C | CAGGGTCA others(2305): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0291 | 1 | 298 | 0.0034 | 2312 | c.955 others(2329): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | chr18 | TogoVar | ||||||
HLA-F_chr6_29718434_29732296 | 29731769 | A | AAATGTAT others(2305): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 | 1 | 443 | 0.0023 | 2312 | c.*45 others(2323): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 4474 | chr6 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2305): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0139 | 1 | 186 | 0.0054 | 2312 | c.723 others(2329): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
LPIN1_chr2_11741632_11832409 | 11775777 | T | TTCTTTAT others(2305): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02717.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063a0001c0001t0002g0064a0001c0001t0002g0065 | 3 | 278 | 0.0108 | 2312 | c.723 others(2327): Show |
LPIN1 | ENSG00000134324.12 | transcript | ENST00000674199.1 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGAG others(2305): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0059 | a0059c0056 | a0059c0056t0002 | a0059c0056t0002g0105 | 1 | 216 | 0.0046 | 2312 | c.801 others(2329): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2305): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0063 | 1 | 216 | 0.0046 | 2312 | c.801 others(2329): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2305): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0073 | a0073c0029 | a0073c0029t0001 | a0073c0029t0001g0159 | 1 | 216 | 0.0046 | 2312 | c.801 others(2329): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2305): Show |
downstream_gene_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 375 | 0.0027 | 2312 | c.*44 others(2323): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | ||||||
RTEL1_chr20_63653312_63701245 | 63693582 | A | ACCTCCAC others(2305): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0058 | 1 | 60 | 0.0167 | 2312 | c.299 others(2329): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TNFRSF6B_chr20_63691652_63703684 | 63693582 | A | ACCTCCAC others(2305): Show |
upstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 33 | 0.0303 | 2312 | c.-31 others(2323): Show |
TNFRSF6B | ENSG00000243509.6 | transcript | ENST00000369996.3 | protein_coding | 3069 | chr20 | TogoVar | ||||||
TRIM66_chr11_8607040_8687665 | 8653897 | C | CAAGAACA others(2305): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0012 | a0012c0012 | a0012c0012t0009 | a0012c0012t0009g0214 | 1 | 390 | 0.0026 | 2312 | c.341 others(2329): Show |
TRIM66 | ENSG00000166436.18 | transcript | ENST00000646038.2 | protein_coding | 6/24 | chr11 | TogoVar | ||||||
ATP9A_chr20_51591514_51773390 | 51740560 | A | AATTAGGC others(2306): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0179 | 1 | 312 | 0.0032 | 2313 | c.69- others(2330): Show |
ATP9A | ENSG00000054793.14 | transcript | ENST00000338821.6 | protein_coding | 1/27 | chr20 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(2306): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02622.hp1 HG02818.hp1 others(1): Show |
a0001a0010a0019 | a0001c0010a0010c0031a0010c0102others(1): Show | a0001c0010t0009a0010c0031t0004a0010c0102t0004others(1): Show | a0001c0010t0009g0185a0010c0031t0004g0018a0010c0102t0004g0017others(1): Show | 4 | 332 | 0.0121 | 2313 | c.179 others(2328): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2306): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 316 | 0.0032 | 2313 | c.44- others(2326): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CTU2_chr16_88701503_88720396 | 88713164 | A | ACCCGAGA others(2306): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0010 | a0010c0018 | a0010c0018t0001 | a0010c0018t0001g0176 | 1 | 418 | 0.0024 | 2313 | c.738 others(2328): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DLC1_chr8_13078361_13519851 | 13384464 | G | GAAATGCT others(2306): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02895.hp2 HG02922.hp1 others(2): Show |
a0001a0002a0006 | a0001c0001a0001c0004a0001c0011others(2): Show | a0001c0001t0009a0001c0004t0003a0001c0011t0005others(2): Show | a0001c0001t0009g0009a0001c0004t0003g0053a0001c0011t0005g0195others(2): Show | 5 | 212 | 0.0236 | 2313 | c.131 others(2332): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 4/17 | chr8 | TogoVar | ||||||
HLA-F_chr6_29718434_29732296 | 29731769 | A | AAATGTAT others(2306): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 | 1 | 443 | 0.0023 | 2313 | c.*45 others(2324): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 4474 | chr6 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2306): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0081 | a0002c0081t0001 | a0002c0081t0001g0087 | 1 | 186 | 0.0054 | 2313 | c.723 others(2330): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
LPIN1_chr2_11741632_11832409 | 11775777 | T | TTCTTTAT others(2306): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0062 | 1 | 278 | 0.0036 | 2313 | c.723 others(2328): Show |
LPIN1 | ENSG00000134324.12 | transcript | ENST00000674199.1 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NXN_chr17_794310_984776 | 952686 | T | TGGGGGGG others(2306): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0233 | 1 | 242 | 0.0041 | 2313 | c.360 others(2332): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88713164 | A | ACCCGAGA others(2306): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0023 | a0023c0037 | a0023c0037t0012 | a0023c0037t0012g0268 | 1 | 282 | 0.0036 | 2313 | c.*24 others(2324): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 2173 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2306): Show |
intron_variant | MODIFIER | HG01071.hp2 HG02717.hp2 |
a0006a0072 | a0006c0005a0072c0121 | a0006c0005t0004a0072c0121t0004 | a0006c0005t0004g0010a0072c0121t0004g0015 | 2 | 216 | 0.0093 | 2313 | c.801 others(2330): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
TRIM66_chr11_8607040_8687665 | 8653897 | C | CAAGAACA others(2306): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0012 | a0012c0012 | a0012c0012t0009 | a0012c0012t0009g0228 | 1 | 390 | 0.0026 | 2313 | c.341 others(2330): Show |
TRIM66 | ENSG00000166436.18 | transcript | ENST00000646038.2 | protein_coding | 6/24 | chr11 | TogoVar | ||||||
TRIM66_chr11_8607040_8687665 | 8653897 | C | CAAGAACA others(2306): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0012 | a0012c0012 | a0012c0012t0009 | a0012c0012t0009g0213 | 1 | 390 | 0.0026 | 2313 | c.341 others(2330): Show |
TRIM66 | ENSG00000166436.18 | transcript | ENST00000646038.2 | protein_coding | 6/24 | chr11 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136802875 | T | TGGGGGCC others(2307): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0007 | a0007c0008 | a0007c0008t0002 | a0007c0008t0002g0035 | 1 | 398 | 0.0025 | 2314 | c.666 others(2329): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(2307): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0009 | a0001c0009t0003 | a0001c0009t0003g0005 | 1 | 175 | 0.0057 | 2314 | c.164 others(2333): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 148331789 | G | GTGGATGG others(2307): Show |
intron_variant | MODIFIER | HG02717.hp2 NA20129.hp2 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0023a0001c0005t0008 | a0001c0003t0023g0030a0001c0005t0008g0005 | 2 | 40 | 0.0500 | 2314 | c.347 others(2335): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2307): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 390 | 0.0026 | 2314 | c.972 others(2327): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
LPIN1_chr2_11741632_11832409 | 11775777 | T | TTCTTTAT others(2307): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0061 | 1 | 278 | 0.0036 | 2314 | c.723 others(2329): Show |
LPIN1 | ENSG00000134324.12 | transcript | ENST00000674199.1 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2307): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0004 | 1 | 116 | 0.0086 | 2314 | c.522 others(2331): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PCID2_chr13_113172536_113213669 | 113176508 | C | CCCAGCAC others(2307): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG03195.hp2 HG03516.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0025a0001c0002t0004g0055 | 3 | 414 | 0.0073 | 2314 | c.*16 others(2325): Show |
PCID2 | ENSG00000126226.22 | transcript | ENST00000337344.9 | protein_coding | 1027 | chr13 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2307): Show |
downstream_gene_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0131 | 1 | 302 | 0.0033 | 2314 | c.*39 others(2325): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2307): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0163 | 1 | 216 | 0.0046 | 2314 | c.801 others(2331): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113176508 | C | CCCAGCAC others(2307): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG03195.hp1 HG03516.hp1 |
a0001 | a0001c0004a0001c0008 | a0001c0004t0003a0001c0008t0005 | a0001c0004t0003g0198a0001c0004t0003g0200a0001c0008t0005g0196 | 3 | 378 | 0.0079 | 2314 | c.*44 others(2325): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 4123 | chr13 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1073176 | C | CCCCCAGC others(2307): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0083 | 1 | 118 | 0.0085 | 2314 | c.224 others(2331): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
TRIM66_chr11_8607040_8687665 | 8653897 | C | CAAGAACA others(2307): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0012 | a0012c0012 | a0012c0012t0009 | a0012c0012t0009g0212 | 1 | 390 | 0.0026 | 2314 | c.341 others(2331): Show |
TRIM66 | ENSG00000166436.18 | transcript | ENST00000646038.2 | protein_coding | 6/24 | chr11 | TogoVar | ||||||
TRIM66_chr11_8607040_8687665 | 8653897 | C | CAAGAACA others(2307): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0012 | a0012c0012 | a0012c0012t0009 | a0012c0012t0009g0227 | 1 | 390 | 0.0026 | 2314 | c.341 others(2331): Show |
TRIM66 | ENSG00000166436.18 | transcript | ENST00000646038.2 | protein_coding | 6/24 | chr11 | TogoVar | ||||||
TRIM66_chr11_8607040_8687665 | 8653897 | C | CAAGAACA others(2307): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0022 | a0022c0029 | a0022c0029t0009 | a0022c0029t0009g0206 | 1 | 390 | 0.0026 | 2314 | c.341 others(2331): Show |
TRIM66 | ENSG00000166436.18 | transcript | ENST00000646038.2 | protein_coding | 6/24 | chr11 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469997 | A | AGGATGAG others(2308): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0006 | a0006c0017 | a0006c0017t0001 | a0006c0017t0001g0018 | 1 | 104 | 0.0096 | 2315 | c.354 others(2334): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2308): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 316 | 0.0032 | 2315 | c.44- others(2328): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DLC1_chr8_13078361_13519851 | 13384464 | G | GAAATGCT others(2308): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0125 | 1 | 212 | 0.0047 | 2315 | c.131 others(2334): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 4/17 | chr8 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2308): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0034 | a0034c0106 | a0034c0106t0001 | a0034c0106t0001g0154 | 1 | 186 | 0.0054 | 2315 | c.723 others(2332): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2308): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0118 | a0001c0118t0001 | a0001c0118t0001g0170 | 1 | 216 | 0.0046 | 2315 | c.801 others(2332): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2308): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0027 | a0001c0027t0003 | a0001c0027t0003g0144 | 1 | 216 | 0.0046 | 2315 | c.801 others(2332): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar |