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(2332): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0074 | a0001c0074t0001 | a0001c0074t0001g0133 | 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 | HG00423.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0060 | 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 | HG00280.hp1 HG00280.hp2 HG01258.hp1 others(16): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0009others(11): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(13): Show | a0001c0001t0001g0132a0001c0001t0001g0143a0001c0001t0001g0164others(16): Show | 19 | 216 | 0.0880 | 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 | NA18999.hp2 | a0001 | a0001c0090 | a0001c0090t0001 | a0001c0090t0001g0100 | 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 | HG03225.hp1 | a0038 | a0038c0092 | a0038c0092t0008 | a0038c0092t0008g0096 | 1 | 216 | 0.0046 | 2339 | c.801 others(2356): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
SLC38A10_chr17_81239811_81300307 | 81249340 | G | GAGCAGGA others(2332): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0004 | a0004c0009 | a0004c0009t0005 | a0004c0009t0005g0161 | 1 | 214 | 0.0047 | 2339 | c.206 others(2358): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44181617 | A | ACACACAC others(2333): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0353 | 1 | 460 | 0.0022 | 2340 | c.193 others(2357): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CHL1_chr3_191763_414417 | 262424 | C | CAGATCTA others(2333): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0002 | a0002c0028 | a0002c0028t0009 | a0002c0028t0009g0085 | 1 | 290 | 0.0035 | 2340 | c.-95 others(2359): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
FNDC10_chr1_1593012_1605135 | 1595118 | G | GAGGCAGA others(2333): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 406 | 0.0025 | 2340 | c.*42 others(2351): Show |
FNDC10 | ENSG00000228594.4 | transcript | ENST00000422725.4 | protein_coding | 2893 | chr1 | TogoVar | ||||||
FOXP1_chr3_70949708_71588728 | 71435687 | G | GGGACGGA others(2333): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0095 | 1 | 96 | 0.0104 | 2340 | c.-16 others(2361): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46076598 | T | TAAACCAA others(2333): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0309 | 1 | 321 | 0.0031 | 2340 | c.153 others(2359): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 4/14 | chr17 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997284 | G | GGGGGCGG others(2333): Show |
upstream_gene_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 375 | 0.0027 | 2340 | c.-21 others(2351): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 386 | chr6 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859712 | C | CGGGTGTG others(2333): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0043 | 1 | 294 | 0.0034 | 2340 | c.153 others(2359): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
LRCH3_chr3_197786254_197893436 | 197877547 | C | CTCACCGC others(2333): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0006 | a0006c0016 | a0006c0016t0008 | a0006c0016t0008g0026 | 1 | 292 | 0.0034 | 2340 | c.220 others(2359): Show |
LRCH3 | ENSG00000186001.14 | transcript | ENST00000425562.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2333): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0003 | a0003c0004 | a0003c0004t0018 | a0003c0004t0018g0098 | 1 | 116 | 0.0086 | 2340 | c.522 others(2357): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
NKX1-1_chr4_1397932_1411442 | 1398133 | G | GGGCATCT others(2333): Show |
downstream_gene_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0003 | 1 | 382 | 0.0026 | 2340 | c.*47 others(2351): Show |
NKX1-1 | ENSG00000235608.2 | transcript | ENST00000422806.2 | protein_coding | 4798 | chr4 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811321 | T | TCCCTACC others(2333): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0022 | 1 | 178 | 0.0056 | 2340 | c.773 others(2355): 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(2333): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0003 | a0003c0077 | a0003c0077t0001 | a0003c0077t0001g0052 | 1 | 216 | 0.0046 | 2340 | c.801 others(2357): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2333): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0182 | 1 | 216 | 0.0046 | 2340 | c.801 others(2357): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2333): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0171 | 1 | 216 | 0.0046 | 2340 | c.801 others(2357): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2333): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0101 | a0001c0101t0001 | a0001c0101t0001g0112 | 1 | 216 | 0.0046 | 2340 | c.801 others(2357): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2333): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0080 | a0001c0080t0001 | a0001c0080t0001g0122 | 1 | 216 | 0.0046 | 2340 | c.801 others(2357): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2333): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0024 | a0001c0024t0024 | a0001c0024t0024g0070 | 1 | 216 | 0.0046 | 2340 | c.801 others(2357): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2333): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0004 | a0004c0002 | a0004c0002t0003 | a0004c0002t0003g0168 | 1 | 216 | 0.0046 | 2340 | c.801 others(2357): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2333): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0004 | a0004c0002 | a0004c0002t0001 | a0004c0002t0001g0059 | 1 | 216 | 0.0046 | 2340 | c.801 others(2357): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGG others(2333): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0040 | a0040c0084 | a0040c0084t0001 | a0040c0084t0001g0029 | 1 | 216 | 0.0046 | 2340 | c.801 others(2357): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 458604 | G | GGGTTCAC others(2333): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0124 | 1 | 295 | 0.0034 | 2340 | c.715 others(2357): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31431958 | T | TAGGGTGG others(2333): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0060 | 1 | 376 | 0.0027 | 2340 | c.101 others(2359): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31432165 | T | TAGGGTGG others(2333): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0238 | 1 | 376 | 0.0027 | 2340 | c.101 others(2357): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERPINF2_chr17_1737871_1760265 | 1740055 | G | GCAGGACA others(2333): Show |
upstream_gene_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 445 | 0.0023 | 2340 | c.-28 others(2351): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2815 | chr17 | TogoVar | ||||||
SLC10A7_chr4_146248981_146526940 | 146286440 | C | CTGGAGTG others(2333): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0018 | a0001c0001t0016g0129a0001c0001t0018g0134 | 2 | 244 | 0.0082 | 2340 | c.774 others(2357): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 9/11 | chr4 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(2333): Show |
upstream_gene_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 186 | 0.0054 | 2340 | c.-50 others(2351): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | ||||||
TECTA_chr11_121096243_121196490 | 121186127 | T | TAATGAAT others(2333): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00673.hp1 HG00738.hp1 others(36): Show |
a0001a0002a0005others(1): Show | a0001c0003a0001c0006a0001c0025others(3): Show | a0001c0003t0002a0001c0006t0002a0001c0025t0002others(3): Show | a0001c0003t0002g0002a0001c0003t0002g0029a0001c0003t0002g0050others(34): Show | 39 | 348 | 0.1121 | 2340 | c.600 others(2359): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TECTA_chr11_121096243_121196490 | 121186127 | T | TAATGAAT others(2333): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0161 | 1 | 348 | 0.0029 | 2340 | c.600 others(2359): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TECTA_chr11_121096243_121196490 | 121186127 | T | TAATGAAT others(2333): Show |
intron_variant | MODIFIER | NA18945.hp1 NA19002.hp2 NA19079.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0297a0001c0003t0002g0298a0001c0003t0002g0299 | 3 | 348 | 0.0086 | 2340 | c.600 others(2359): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TECTA_chr11_121096243_121196490 | 121186127 | T | TAATGAAT others(2333): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0196 | 1 | 348 | 0.0029 | 2340 | c.600 others(2359): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TECTA_chr11_121096243_121196490 | 121186127 | T | TAATGAAT others(2333): Show |
intron_variant | MODIFIER | NA18941.hp1 NA19000.hp1 NA19009.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0144a0001c0003t0002g0149a0001c0003t0002g0166 | 3 | 348 | 0.0086 | 2340 | c.600 others(2359): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TMEM242_chr6_157284025_157328519 | 157311861 | C | CGTTCACC others(2333): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 344 | 0.0029 | 2340 | c.327 others(2357): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
WDR81_chr17_1719704_1743585 | 1741781 | G | GGGAGGCG others(2333): Show |
downstream_gene_variant | MODIFIER | HG02818.hp1 | a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0021 | 1 | 431 | 0.0023 | 2340 | c.*40 others(2351): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 3197 | chr17 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2334): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 390 | 0.0026 | 2341 | c.972 others(2354): 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(2334): Show |
intron_variant | MODIFIER | NA18941.hp1 NA18970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 2 | 390 | 0.0051 | 2341 | c.972 others(2354): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2334): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0051 | a0051c0093 | a0051c0093t0013 | a0051c0093t0013g0235 | 1 | 292 | 0.0034 | 2341 | c.218 others(2356): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2334): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0014 | a0001c0014t0022 | a0001c0014t0022g0181 | 1 | 216 | 0.0046 | 2341 | c.801 others(2358): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2334): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0030 | a0001c0030t0001 | a0001c0030t0001g0142 | 1 | 216 | 0.0046 | 2341 | c.801 others(2358): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2334): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0002 | a0002c0066 | a0002c0066t0001 | a0002c0066t0001g0103 | 1 | 216 | 0.0046 | 2341 | c.801 others(2358): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
SLC38A10_chr17_81239811_81300307 | 81249360 | G | GATGAAGG others(2334): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0004 | a0004c0009 | a0004c0009t0005 | a0004c0009t0005g0163 | 1 | 214 | 0.0047 | 2341 | c.206 others(2360): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238871172 | C | CCACACCC others(2334): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 338 | 0.0030 | 2341 | c.*35 others(2360): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2335): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0027 | a0001c0027t0001 | a0001c0027t0001g0040 | 1 | 104 | 0.0096 | 2342 | c.354 others(2361): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2335): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0035 | a0035c0081 | a0035c0081t0001 | a0035c0081t0001g0035 | 1 | 216 | 0.0046 | 2342 | c.801 others(2359): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2335): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0004 | a0004c0002 | a0004c0002t0001 | a0004c0002t0001g0107 | 1 | 216 | 0.0046 | 2342 | c.801 others(2359): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar |