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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CCDC88C_chr14_91266323_91422820 | 91293454 | C | CCACCTTC others(2329): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0147 | 1 | 284 | 0.0035 | 2336 | c.411 others(2353): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
EDRF1_chr10_125714709_125769139 | 125731795 | A | ATTGAGTG others(2329): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 322 | 0.0031 | 2336 | c.112 others(2355): Show |
EDRF1 | ENSG00000107938.18 | transcript | ENST00000356792.9 | protein_coding | 9/24 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GALNT9_chr12_132191372_132334589 | 132241360 | G | GGCCCTCC others(2329): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 183 | 0.0055 | 2336 | c.107 others(2355): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323368 | G | GAATATAT others(2329): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0140 | 1 | 323 | 0.0031 | 2336 | c.-16 others(2347): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1601 | chr21 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46076598 | T | TAAACCAA others(2329): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01074.hp2 others(16): Show |
a0003 | a0003c0004 | a0003c0004t0005a0003c0004t0024 | a0003c0004t0005g0301a0003c0004t0005g0302a0003c0004t0005g0303others(16): Show | 19 | 321 | 0.0592 | 2336 | c.153 others(2355): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 4/14 | chr17 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 953651 | A | ACACCCAC others(2329): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0093 | 1 | 294 | 0.0034 | 2336 | c.503 others(2351): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2329): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0043 | a0043c0036 | a0043c0036t0001 | a0043c0036t0001g0087 | 1 | 216 | 0.0046 | 2336 | c.801 others(2353): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2329): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0083 | a0001c0083t0001 | a0001c0083t0001g0024 | 1 | 216 | 0.0046 | 2336 | c.801 others(2353): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2329): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03471.hp1 |
a0001a0003 | a0001c0091a0003c0079 | a0001c0091t0015a0003c0079t0001 | a0001c0091t0015g0184a0003c0079t0001g0050 | 2 | 216 | 0.0093 | 2336 | c.801 others(2353): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
SAR1B_chr5_134596149_134637828 | 134619330 | C | CAAAAAAA others(2329): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0054 | 1 | 322 | 0.0031 | 2336 | c.178 others(2353): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 3/6 | chr5 | TogoVar | ||||||
TECTA_chr11_121096243_121196490 | 121186127 | T | TAATGAAT others(2329): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0112 | 1 | 348 | 0.0029 | 2336 | c.600 others(2355): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ADPRHL1_chr13_113394611_113458488 | 113418971 | C | CTCTTTTC others(2330): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0205 | 1 | 262 | 0.0038 | 2337 | c.106 others(2356): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477317 | A | ACCCACCC others(2330): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0006 | 2 | 334 | 0.0060 | 2337 | c.147 others(2354): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CDC16_chr13_114229897_114277723 | 114231338 | G | GGGGTGGA others(2330): Show |
upstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0066 | 1 | 380 | 0.0026 | 2337 | c.-37 others(2348): Show |
CDC16 | ENSG00000130177.16 | transcript | ENST00000356221.8 | protein_coding | 3558 | chr13 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2330): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0041 | 1 | 298 | 0.0034 | 2337 | c.126 others(2354): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2330): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0106 | 1 | 390 | 0.0026 | 2337 | c.972 others(2350): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KANSL1_chr17_46024916_46198429 | 46076598 | T | TAAACCAA others(2330): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0316 | 1 | 321 | 0.0031 | 2337 | c.153 others(2356): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 4/14 | chr17 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318241 | G | GAAGGGGG others(2330): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0132 | 1 | 186 | 0.0054 | 2337 | c.723 others(2354): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45910134 | C | CCCGCCCA others(2330): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 | 1 | 292 | 0.0034 | 2337 | c.471 others(2352): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | chr21 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2330): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0009 | a0009c0048 | a0009c0048t0018 | a0009c0048t0018g0004 | 1 | 216 | 0.0046 | 2337 | c.801 others(2354): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2330): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0063 | a0001c0063t0001 | a0001c0063t0001g0131 | 1 | 216 | 0.0046 | 2337 | c.801 others(2354): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2330): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0030 | a0030c0093 | a0030c0093t0001 | a0030c0093t0001g0064 | 1 | 216 | 0.0046 | 2337 | c.801 others(2354): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2330): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02809.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079a0001c0001t0002g0080a0001c0001t0002g0081 | 3 | 216 | 0.0139 | 2337 | c.801 others(2354): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492490 | C | CCGGGGAG others(2330): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0172 | 1 | 295 | 0.0034 | 2337 | c.126 others(2356): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | chr16 | TogoVar | ||||||
SLC38A10_chr17_81239811_81300307 | 81249360 | G | GATGAAGG others(2330): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0004 | a0004c0009 | a0004c0009t0005 | a0004c0009t0005g0159 | 1 | 214 | 0.0047 | 2337 | c.206 others(2356): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
ALDH16A1_chr19_49448225_49476050 | 49461541 | G | GAGTCTGG others(2331): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0183 | 1 | 342 | 0.0029 | 2338 | c.578 others(2351): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | chr19 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 425298 | A | AGAAGCTG others(2331): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0331 | 1 | 432 | 0.0023 | 2338 | c.414 others(2355): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2C_chr10_269201_694668 | 477345 | A | AGGGGGAG others(2331): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0061 | 1 | 88 | 0.0114 | 2338 | c.158 others(2355): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89634913 | C | CCCTTCCT others(2331): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 250 | 0.0040 | 2338 | c.105 others(2353): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
EDRF1_chr10_125714709_125769139 | 125731795 | A | ATTGAGTG others(2331): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 322 | 0.0031 | 2338 | c.112 others(2357): Show |
EDRF1 | ENSG00000107938.18 | transcript | ENST00000356792.9 | protein_coding | 9/24 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
EXD3_chr9_137301896_137428162 | 137379388 | G | GGGGGCGT others(2331): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0029 | a0029c0036 | a0029c0036t0001 | a0029c0036t0001g0003 | 1 | 82 | 0.0122 | 2338 | c.120 others(2355): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 3/21 | chr9 | TogoVar | ||||||
MED16_chr19_862963_898187 | 871891 | C | CGGGGAGA others(2331): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 56 | 0.0179 | 2338 | c.209 others(2353): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2331): Show |
intron_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0027 | 1 | 216 | 0.0046 | 2338 | c.801 others(2355): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2331): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 216 | 0.0046 | 2338 | c.801 others(2355): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2331): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0040 | 1 | 216 | 0.0046 | 2338 | c.801 others(2355): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2331): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0126 | 1 | 216 | 0.0046 | 2338 | c.801 others(2355): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492490 | C | CCGGGGAG others(2331): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0134 | 1 | 295 | 0.0034 | 2338 | c.126 others(2357): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | chr16 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3976616 | C | CCACGCAG others(2331): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0007 | a0007c0077 | a0007c0077t0003 | a0007c0077t0003g0099 | 1 | 116 | 0.0086 | 2338 | c.199 others(2357): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | ||||||
SERPINF2_chr17_1737871_1760265 | 1741407 | A | AGGACAGT others(2331): Show |
upstream_gene_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 1 | 445 | 0.0023 | 2338 | c.-15 others(2349): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 1463 | chr17 | TogoVar | ||||||
WDR81_chr17_1719704_1743585 | 1741407 | A | AGGACAGT others(2331): Show |
downstream_gene_variant | MODIFIER | HG04228.hp1 | a0017 | a0017c0045 | a0017c0045t0003 | a0017c0045t0003g0002 | 1 | 431 | 0.0023 | 2338 | c.*37 others(2349): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 2823 | chr17 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2332): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0007 | a0007c0018 | a0007c0018t0001 | a0007c0018t0001g0118 | 1 | 334 | 0.0030 | 2339 | c.147 others(2356): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2332): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 334 | 0.0030 | 2339 | c.147 others(2356): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79200717 | T | TGGAGGTG others(2332): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0261 | 1 | 298 | 0.0034 | 2339 | c.955 others(2356): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CCDC77_chr12_396644_447642 | 425298 | A | AGAAGCTG others(2332): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02145.hp2 others(3): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0006 | a0001c0001t0004a0001c0001t0008a0003c0003t0007others(1): Show | a0001c0001t0004g0275a0001c0001t0008g0170a0003c0003t0007g0327others(3): Show | 6 | 432 | 0.0139 | 2339 | c.414 others(2356): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2332): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0057 | 1 | 104 | 0.0096 | 2339 | c.354 others(2358): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2332): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0006 | a0006c0026 | a0006c0026t0001 | a0006c0026t0001g0048 | 1 | 104 | 0.0096 | 2339 | c.354 others(2358): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137355414 | G | GGGAGGAA others(2332): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0010 | a0010c0006 | a0010c0006t0001 | a0010c0006t0001g0008 | 1 | 82 | 0.0122 | 2339 | c.758 others(2354): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2332): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 216 | 0.0046 | 2339 | c.801 others(2356): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2332): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0088 | a0002c0088t0003 | a0002c0088t0003g0054 | 1 | 216 | 0.0046 | 2339 | c.801 others(2356): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2332): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0075 | 1 | 216 | 0.0046 | 2339 | c.801 others(2356): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar |