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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2324): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0176 | 1 | 216 | 0.0046 | 2331 | c.801 others(2348): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2324): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0007 | a0007c0023 | a0007c0023t0013 | a0007c0023t0013g0022 | 1 | 216 | 0.0046 | 2331 | c.801 others(2348): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2324): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0008 | a0001c0008t0023 | a0001c0008t0023g0175 | 1 | 216 | 0.0046 | 2331 | c.801 others(2348): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2324): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0009 | a0009c0016 | a0009c0016t0008 | a0009c0016t0008g0003 | 1 | 216 | 0.0046 | 2331 | c.801 others(2348): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 100796 | T | TAATCCAT others(2324): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0051 | a0001c0051t0078 | a0001c0051t0078g0148 | 1 | 210 | 0.0048 | 2331 | c.45+ others(2346): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31432012 | T | TAGGGTGG others(2324): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0281 | 1 | 376 | 0.0027 | 2331 | c.101 others(2348): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(2324): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 356 | 0.0028 | 2331 | c.114 others(2348): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
EDRF1_chr10_125714709_125769139 | 125731795 | A | ATTGAGTG others(2325): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 322 | 0.0031 | 2332 | c.112 others(2351): Show |
EDRF1 | ENSG00000107938.18 | transcript | ENST00000356792.9 | protein_coding | 9/24 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GALNT9_chr12_132191372_132334589 | 132241883 | A | ACACACCC others(2325): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0003 | 1 | 183 | 0.0055 | 2332 | c.107 others(2351): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
GPIHBP1_chr8_143208218_143222170 | 143218132 | A | ACCCCCAA others(2325): Show |
downstream_gene_variant | MODIFIER | NA19004.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 106 | 0.0094 | 2332 | c.*26 others(2343): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 963 | chr8 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997432 | G | GGGGGCGG others(2325): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0332 | 1 | 375 | 0.0027 | 2332 | c.-20 others(2343): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 238 | chr6 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120084 | T | TGGAGGAA others(2325): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189 | 1 | 368 | 0.0027 | 2332 | c.353 others(2349): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
NOC4L_chr12_132139457_132157468 | 132149358 | C | CACCACAC others(2325): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 294 | 0.0034 | 2332 | c.901 others(2347): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NOC4L_chr12_132139457_132157468 | 132150131 | C | CGCCGCCT others(2325): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 294 | 0.0034 | 2332 | c.902 others(2347): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NOC4L_chr12_132139457_132157468 | 132150672 | A | ACACCACA others(2325): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0180 | 1 | 294 | 0.0034 | 2332 | c.902 others(2347): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | chr12 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811333 | C | CTCCCTTC others(2325): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0075 | 1 | 178 | 0.0056 | 2332 | c.773 others(2347): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGAG others(2325): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0031 | a0031c0094 | a0031c0094t0001 | a0031c0094t0001g0162 | 1 | 216 | 0.0046 | 2332 | c.801 others(2349): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2325): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 216 | 0.0046 | 2332 | c.801 others(2349): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2325): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0021 | a0021c0119 | a0021c0119t0007 | a0021c0119t0007g0155 | 1 | 216 | 0.0046 | 2332 | c.801 others(2349): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 101933 | T | CCTGTAGG others(2325): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0010 | a0010c0014 | a0010c0014t0055 | a0010c0014t0055g0201 | 1 | 210 | 0.0048 | 2332 | c.45+ others(2347): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | chr5 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2326): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0007 | a0007c0018 | a0007c0018t0001 | a0007c0018t0001g0250 | 1 | 334 | 0.0030 | 2333 | c.147 others(2350): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
B3GNTL1_chr17_82937149_83056770 | 82972644 | C | GACCACAC others(2326): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0257 | 1 | 266 | 0.0038 | 2333 | c.460 others(2350): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132895979 | C | CCACATGA others(2326): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03130.hp2 NA20300.hp1 |
a0008a0009 | a0008c0009a0009c0018 | a0008c0009t0001a0009c0018t0001 | a0008c0009t0001g0122a0008c0009t0001g0124a0009c0018t0001g0228 | 3 | 246 | 0.0122 | 2333 | c.321 others(2352): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 24/57 | chr10 | TogoVar | ||||||
EDRF1_chr10_125714709_125769139 | 125731795 | A | ATTGAGTG others(2326): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02723.hp2 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 3 | 322 | 0.0093 | 2333 | c.112 others(2352): Show |
EDRF1 | ENSG00000107938.18 | transcript | ENST00000356792.9 | protein_coding | 9/24 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
EDRF1_chr10_125714709_125769139 | 125731795 | A | ATTGAGTG others(2326): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 322 | 0.0031 | 2333 | c.112 others(2352): Show |
EDRF1 | ENSG00000107938.18 | transcript | ENST00000356792.9 | protein_coding | 9/24 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KREMEN1_chr22_29068035_29151820 | 29120026 | G | GGGAGGAG others(2326): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02109.hp1 HG03516.hp1 |
a0001a0006 | a0001c0009a0006c0010 | a0001c0009t0006a0006c0010t0006 | a0001c0009t0006g0295a0001c0009t0006g0296a0006c0010t0006g0297 | 3 | 368 | 0.0082 | 2333 | c.353 others(2350): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | chr22 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120035 | A | AGGAGAGG others(2326): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0337 | 1 | 368 | 0.0027 | 2333 | c.353 others(2350): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
LAMA5_chr20_62304065_62372312 | 62349742 | G | GGTGGGGG others(2326): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0084 | a0084c0067 | a0084c0067t0001 | a0084c0067t0001g0010 | 1 | 186 | 0.0054 | 2333 | c.956 others(2350): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2326): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0102 | 1 | 294 | 0.0034 | 2333 | c.515 others(2350): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2326): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0003 | a0003c0100 | a0003c0100t0001 | a0003c0100t0001g0098 | 1 | 216 | 0.0046 | 2333 | c.801 others(2350): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2326): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 216 | 0.0046 | 2333 | c.801 others(2350): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137502701 | C | CGAGGGGG others(2326): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0037 | a0001c0037t0001 | a0001c0037t0001g0183 | 1 | 188 | 0.0053 | 2333 | c.147 others(2350): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | ||||||
TECTA_chr11_121096243_121196490 | 121186127 | T | TAATGAAT others(2326): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0022 | a0022c0038 | a0022c0038t0002 | a0022c0038t0002g0122 | 1 | 348 | 0.0029 | 2333 | c.600 others(2352): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EDRF1_chr10_125714709_125769139 | 125731795 | A | ATTGAGTG others(2327): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 322 | 0.0031 | 2334 | c.112 others(2353): Show |
EDRF1 | ENSG00000107938.18 | transcript | ENST00000356792.9 | protein_coding | 9/24 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
EXD3_chr9_137301896_137428162 | 137329823 | G | GGGACTAC others(2327): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0004 | a0004c0021 | a0004c0021t0001 | a0004c0021t0001g0069 | 1 | 82 | 0.0122 | 2334 | c.199 others(2353): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2327): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0101 | 1 | 390 | 0.0026 | 2334 | c.972 others(2347): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2327): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 390 | 0.0026 | 2334 | c.972 others(2347): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PAK2_chr3_196734857_196837647 | 196811201 | C | CCCTTCCC others(2327): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 178 | 0.0056 | 2334 | c.773 others(2349): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2327): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 216 | 0.0046 | 2334 | c.801 others(2351): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311140 | C | CAGTATGC others(2327): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0323 | 1 | 344 | 0.0029 | 2334 | c.327 others(2351): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311140 | C | CAGTATGC others(2327): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00639.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013 | a0001c0001t0003g0017a0001c0001t0003g0275a0001c0001t0003g0276others(16): Show | 20 | 344 | 0.0581 | 2334 | c.327 others(2351): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311140 | C | CAGTATGC others(2327): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0185 | 1 | 344 | 0.0029 | 2334 | c.327 others(2351): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
EDRF1_chr10_125714709_125769139 | 125731795 | A | ATTGAGTG others(2328): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 322 | 0.0031 | 2335 | c.112 others(2354): Show |
EDRF1 | ENSG00000107938.18 | transcript | ENST00000356792.9 | protein_coding | 9/24 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GPIHBP1_chr8_143208218_143222170 | 143218369 | C | CCACACCA others(2328): Show |
downstream_gene_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0002 | 1 | 106 | 0.0094 | 2335 | c.*28 others(2346): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1200 | chr8 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120026 | G | GGGAGGAG others(2328): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0196 | 1 | 368 | 0.0027 | 2335 | c.353 others(2352): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | chr22 | TogoVar | ||||||
MINAR2_chr5_129743094_129771732 | 129767022 | T | TAAGCATG others(2328): Show |
downstream_gene_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0002 | 1 | 434 | 0.0023 | 2335 | c.*19 others(2346): Show |
MINAR2 | ENSG00000186367.7 | transcript | ENST00000564719.2 | protein_coding | 291 | chr5 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2328): Show |
downstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0257 | 1 | 302 | 0.0033 | 2335 | c.*39 others(2346): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2328): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0173 | 1 | 216 | 0.0046 | 2335 | c.801 others(2352): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2328): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0003 | a0003c0076 | a0003c0076t0001 | a0003c0076t0001g0025 | 1 | 216 | 0.0046 | 2335 | c.801 others(2352): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
ABCA2_chr9_137002234_137033237 | 137002308 | G | GGTTAACG others(2329): Show |
downstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0033 | 1 | 320 | 0.0031 | 2336 | c.*56 others(2347): Show |
ABCA2 | ENSG00000107331.18 | transcript | ENST00000341511.11 | protein_coding | 4925 | chr9 | TogoVar |