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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAJC12_chr10_67791669_67843188 | 67812103 | T | TAAAGACT others(2312): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 382 | 0.0026 | 2319 | c.158 others(2334): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
GALM_chr2_38661114_38739765 | 38711831 | C | CATCCCTA others(2312): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0270 | 1 | 251 | 0.0040 | 2319 | c.635 others(2338): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2312): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0104 | 1 | 4 | 0.2500 | 2319 | c.522 others(2336): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2312): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0002 | a0002c0002 | a0002c0002t0026 | a0002c0002t0026g0010 | 1 | 4 | 0.2500 | 2319 | c.522 others(2336): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2312): Show |
intron_variant | MODIFIER | HG02083.hp2 HG02273.hp1 NA18981.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011 a0002c0002t0001g0057 a0002c0002t0001g0066 |
3 | 6 | 0.5000 | 2319 | c.522 others(2336): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NXN_chr17_794310_984776 | 952763 | A | AGTCAGAG others(2312): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0009 | 1 | 148 | 0.0068 | 2319 | c.360 others(2338): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(2312): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0033 | a0033c0024 | a0033c0024t0002 | a0033c0024t0002g0118 | 1 | 34 | 0.0294 | 2319 | c.299 others(2334): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
TPH1_chr11_18012555_18051269 | 18032085 | T | TAAAAAGG others(2312): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0165 | 1 | 396 | 0.0025 | 2319 | c.402 others(2336): Show |
TPH1 | ENSG00000129167.10 | transcript | ENST00000682019.1 | protein_coding | 4/10 | chr11 | TogoVar | |||||||
VPS13D_chr1_12225030_12517047 | 12415597 | T | TGAACTTG others(2312): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0132 | 1 | 142 | 0.0070 | 2319 | c.121 others(2338): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 64/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208176941 | C | CCGTATAC others(2313): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 233 | 0.0043 | 2320 | c.366 others(2337): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2313): Show |
downstream_gene_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0329 | 1 | 88 | 0.0114 | 2320 | c.*92 others(2331): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | |||||||
FNDC10_chr1_1593012_1605135 | 1595118 | G | GAGGCAGA others(2313): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 293 | 0.0034 | 2320 | c.*42 others(2331): Show |
FNDC10 | ENSG00000228594.4 | transcript | ENST00000422725.4 | protein_coding | 2893 | chr1 | TogoVar | |||||||
PAM16_chr16_4335251_4356321 | 4344611 | G | AGGGGGTT others(2313): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 223 | 0.0045 | 2320 | c.4-1 others(2333): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
SLC10A7_chr4_146248981_146526940 | 146286440 | C | CTGGAGTG others(2313): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0175 | 1 | 84 | 0.0119 | 2320 | c.774 others(2337): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 9/11 | chr4 | TogoVar | |||||||
UCK2_chr1_165822614_165916618 | 165892146 | T | TCTGAAAC others(2313): Show |
intron_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 201 | 0.0050 | 2320 | c.356 others(2335): Show |
UCK2 | ENSG00000143179.16 | transcript | ENST00000367879.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2314): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 13 | 0.0769 | 2321 | c.354 others(2340): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2314): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 HG02896.hp1 HG02897.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 a0001c0001t0001g0141 a0001c0001t0001g0145 others(2): Show |
6 | 66 | 0.0909 | 2321 | c.-11 others(2332): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2314): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0030 | a0030c0117 | a0030c0117t0003 | a0030c0117t0003g0109 | 1 | 2 | 0.5000 | 2321 | c.801 others(2338): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2314): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0041 | a0041c0071 | a0041c0071t0001 | a0041c0071t0001g0132 | 1 | 2 | 0.5000 | 2321 | c.801 others(2338): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2314): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 221 | 0.0045 | 2321 | c.*44 others(2332): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2314): Show |
downstream_gene_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 221 | 0.0045 | 2321 | c.*44 others(2332): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2314): Show |
downstream_gene_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 221 | 0.0045 | 2321 | c.*44 others(2332): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2314): Show |
downstream_gene_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 221 | 0.0045 | 2321 | c.*44 others(2332): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | |||||||
TBC1D15_chr12_71834759_71929313 | 71901331 | G | GTTTTTTT others(2314): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0062 | 1 | 328 | 0.0030 | 2321 | c.118 others(2340): Show |
TBC1D15 | ENSG00000121749.16 | transcript | ENST00000485960.7 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NWD1_chr19_16714847_16822953 | 16741478 | T | TCCTCAGC others(2315): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0009 | a0009c0010 | a0009c0010t0047 | a0009c0010t0047g0005 | 1 | 298 | 0.0034 | 2322 | c.199 others(2339): Show |
NWD1 | ENSG00000188039.17 | transcript | ENST00000524140.7 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2315): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0012 | a0012c0013 | a0012c0013t0001 | a0012c0013t0001g0038 | 1 | 2 | 0.5000 | 2322 | c.801 others(2339): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATTTA others(2315): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0006 | 1 | 8 | 0.1250 | 2322 | c.-20 others(2333): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80744883 | C | CCCTGGTT others(2315): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0136 | 1 | 150 | 0.0067 | 2322 | c.655 others(2339): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432156 | C | CAGGGTGG others(2315): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0262 | 1 | 160 | 0.0063 | 2322 | c.101 others(2339): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432187 | G | GTGGATAG others(2315): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0269 | 1 | 337 | 0.0030 | 2322 | c.101 others(2339): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414431 | A | ACTGGGTG others(2315): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092 | 1 | 315 | 0.0032 | 2322 | c.115 others(2339): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185649 | T | TCAGCGTG others(2316): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0057 | 1 | 308 | 0.0032 | 2323 | c.300 others(2340): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2316): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 13 | 0.0769 | 2323 | c.354 others(2342): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2316): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0008 | 1 | 13 | 0.0769 | 2323 | c.354 others(2342): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469999 | G | GAGGAGGG others(2316): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 102 | 0.0098 | 2323 | c.354 others(2342): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2316): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0031 | a0001c0031t0001 | a0001c0031t0001g0035 | 1 | 2 | 0.5000 | 2323 | c.801 others(2340): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2316): Show |
intron_variant | MODIFIER | HG01167.hp1 HG03669.hp2 |
a0001a0012 | a0001c0001a0012c0013 | a0001c0001t0001a0012c0013t0001 | a0001c0001t0001g0097 a0012c0013t0001g0113 |
2 | 3 | 0.6667 | 2323 | c.801 others(2340): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2316): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0065 | a0065c0073 | a0065c0073t0001 | a0065c0073t0001g0061 | 1 | 2 | 0.5000 | 2323 | c.801 others(2340): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2316): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01934.hp2 NA18970.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006a0001c0008 | a0001c0001t0001a0001c0006t0001a0001c0008t0001 | a0001c0001t0001g0091 a0001c0006t0001g0140 a0001c0008t0001g0177 others(1): Show |
4 | 5 | 0.8000 | 2323 | c.801 others(2340): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
TTC24_chr1_156574723_156592719 | 156586449 | C | CCCCTCCC others(2316): Show |
splice_region_variant others(1): Show |
LOW | HG03209.hp1 | a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0054 | 1 | 434 | 0.0023 | 2323 | c.166 others(2336): Show |
TTC24 | ENSG00000187862.13 | transcript | ENST00000368236.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ADAMTS16_chr5_5135330_5325304 | 5305337 | A | ACACACAC others(2317): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0024 | a0024c0075 | a0024c0075t0001 | a0024c0075t0001g0301 | 1 | 323 | 0.0031 | 2324 | c.318 others(2343): Show |
ADAMTS16 | ENSG00000145536.15 | transcript | ENST00000274181.7 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113419002 | T | TCCTTCCT others(2317): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0036 | 1 | 82 | 0.0122 | 2324 | c.106 others(2343): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208176941 | C | CCGTATAC others(2317): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 233 | 0.0043 | 2324 | c.366 others(2341): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137329823 | G | GGGACTAC others(2317): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0035 | 1 | 15 | 0.0667 | 2324 | c.199 others(2343): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137329823 | G | GGGACTAC others(2317): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 15 | 0.0667 | 2324 | c.199 others(2343): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2317): Show |
upstream_gene_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 61 | 0.0164 | 2324 | c.-11 others(2335): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2317): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0006 | a0006c0007 | a0006c0007t0017 | a0006c0007t0017g0037 | 1 | 2 | 0.5000 | 2324 | c.801 others(2341): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2317): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0006 | a0006c0007 | a0006c0007t0002 | a0006c0007t0002g0043 | 1 | 2 | 0.5000 | 2324 | c.801 others(2341): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2317): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03579.hp1 |
a0006 | a0006c0018a0006c0032 | a0006c0018t0001a0006c0032t0016 | a0006c0018t0001g0185 a0006c0032t0016g0080 |
2 | 3 | 0.6667 | 2324 | c.801 others(2341): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2317): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0026 | a0026c0033 | a0026c0033t0001 | a0026c0033t0001g0157 | 1 | 2 | 0.5000 | 2324 | c.801 others(2341): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar |