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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NEU4_chr2_241804193_241822413 | 241805362 | C | CCCTCCCT others(225): Show |
upstream_gene_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 319 | 0.0031 | 232 | c.-39 others(243): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3830 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241806159 | C | CCCTCCCC others(225): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0025 | 1 | 319 | 0.0031 | 232 | c.-31 others(243): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3033 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807607 | T | TCCCTCCC others(225): Show |
upstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0077 | 1 | 319 | 0.0031 | 232 | c.-16 others(243): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1585 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807776 | C | CCCCCCTC others(225): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0090 | 1 | 319 | 0.0031 | 232 | c.-15 others(243): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1416 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807931 | T | TCCCTCCC others(225): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0155 | 1 | 319 | 0.0031 | 232 | c.-13 others(243): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1261 | chr2 | TogoVar | |||||||
NFILZ_chr19_8625633_8686151 | 8656289 | C | CAGCCCAC others(225): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0191 | 1 | 366 | 0.0027 | 232 | c.-16 others(253): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NFILZ_chr19_8625633_8686151 | 8663394 | A | ATGGAACT others(225): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 366 | 0.0027 | 232 | c.-16 others(253): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NFILZ_chr19_8625633_8686151 | 8663415 | G | GTGGGGAA others(225): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0010 | a0010c0009 | a0010c0009t0129 | a0010c0009t0129g0366 | 1 | 366 | 0.0027 | 232 | c.-16 others(253): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NFILZ_chr19_8625633_8686151 | 8663415 | G | GTGGGGAA others(225): Show |
intron_variant | MODIFIER | NA18952.hp2 NA19010.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0025a0003c0003t0010 | a0002c0002t0025g0151 a0003c0003t0010g0203 |
2 | 366 | 0.0055 | 232 | c.-16 others(253): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NFILZ_chr19_8625633_8686151 | 8663434 | A | AGCTGGTG others(225): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 366 | 0.0027 | 232 | c.-16 others(253): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NFILZ_chr19_8625633_8686151 | 8663434 | A | AGCTGGTG others(225): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0014 | a0014c0012 | a0014c0012t0085 | a0014c0012t0085g0059 | 1 | 366 | 0.0027 | 232 | c.-16 others(253): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
NGEF_chr2_232873701_233018256 | 232900423 | T | TAGACACA others(225): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0244 | 1 | 362 | 0.0028 | 232 | c.829 others(249): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 5/14 | chr2 | TogoVar | |||||||
NINJ2_chr12_559296_668445 | 577425 | A | ATACATAT others(225): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 404 | 0.0025 | 232 | c.34- others(249): Show |
NINJ2 | ENSG00000171840.13 | transcript | ENST00000305108.10 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
NPRL3_chr16_80386_143673 | 82236 | C | CCCTCCTG others(225): Show |
downstream_gene_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0240 | 1 | 350 | 0.0029 | 232 | c.*44 others(243): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3149 | chr16 | TogoVar | |||||||
NPSR1_chr7_34653218_34854978 | 34792665 | T | TTATATAT others(225): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0057 | 1 | 260 | 0.0039 | 232 | c.384 others(251): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
NUTM2F_chr9_94313198_94333644 | 94313356 | T | TATATAAT others(225): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 322 | 0.0031 | 232 | c.*51 others(243): Show |
NUTM2F | ENSG00000130950.15 | transcript | ENST00000253262.9 | protein_coding | 4841 | chr9 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841381 | T | TGCATCTC others(225): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 242 | 0.0041 | 232 | c.361 others(251): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841432 | G | GGGCGAGC others(225): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 | 1 | 242 | 0.0041 | 232 | c.361 others(251): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841443 | T | TCCTCCCG others(225): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0106 | 1 | 242 | 0.0041 | 232 | c.361 others(251): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841443 | T | TCCTCCCG others(225): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0008 | 1 | 242 | 0.0041 | 232 | c.361 others(251): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841445 | C | CACCCTGA others(225): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0232 | 1 | 242 | 0.0041 | 232 | c.361 others(251): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841445 | C | CACCCTGA others(225): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 242 | 0.0041 | 232 | c.361 others(251): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841445 | C | CTCCCGAC others(225): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0009 | 1 | 242 | 0.0041 | 232 | c.361 others(251): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OBI1_chr13_78609289_78664155 | 78659327 | A | AGAAAGAA others(225): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 296 | 0.0034 | 232 | c.-20 others(241): Show |
OBI1 | ENSG00000152193.8 | transcript | ENST00000282003.7 | protein_coding | 173 | chr13 | TogoVar | |||||||
OLFM1_chr9_135082668_135126180 | 135124508 | G | GAAGGAAG others(225): Show |
downstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 360 | 0.0028 | 232 | c.*43 others(243): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3329 | chr9 | TogoVar | |||||||
OLFM1_chr9_135082668_135126180 | 135124531 | G | GGAAGGAA others(225): Show |
downstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0003 | 1 | 360 | 0.0028 | 232 | c.*43 others(243): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3352 | chr9 | TogoVar | |||||||
OLFM1_chr9_135082668_135126180 | 135124531 | G | GGAAGGAA others(225): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0292 a0001c0001t0004g0293 |
2 | 360 | 0.0056 | 232 | c.*43 others(243): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3352 | chr9 | TogoVar | |||||||
OLFM1_chr9_135082668_135126180 | 135124531 | G | GGAAGGAA others(225): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0017 a0001c0001t0004g0299 |
2 | 360 | 0.0056 | 232 | c.*43 others(243): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3352 | chr9 | TogoVar | |||||||
OR1S2_chr11_58198204_58209142 | 58199861 | T | TGAAAATG others(225): Show |
downstream_gene_variant | MODIFIER | HG01071.hp2 HG02109.hp1 |
a0001 | a0001c0002 | a0001c0002t0000 | a0001c0002t0000g0000 | 2 | 426 | 0.0047 | 232 | c.*33 others(243): Show |
OR1S2 | ENSG00000197887.6 | transcript | ENST00000641683.2 | protein_coding | 3342 | chr11 | TogoVar | |||||||
OR4F17_chr19_102104_118156 | 107934 | T | TTATTATA others(225): Show |
intron_variant | MODIFIER | HG02896.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 2 | 227 | 0.0088 | 232 | c.-55 others(247): Show |
OR4F17 | ENSG00000176695.8 | transcript | ENST00000585993.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
OR4F17_chr19_102104_118156 | 107934 | T | TTATTATA others(225): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0064 | 1 | 227 | 0.0044 | 232 | c.-55 others(247): Show |
OR4F17 | ENSG00000176695.8 | transcript | ENST00000585993.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
OR4F17_chr19_102104_118156 | 107934 | T | TTATTATA others(225): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01070.hp1 HG01517.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0037 others(2): Show |
23 | 227 | 0.1013 | 232 | c.-55 others(247): Show |
OR4F17 | ENSG00000176695.8 | transcript | ENST00000585993.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
OR4F17_chr19_102104_118156 | 107934 | T | TTATTATA others(225): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 227 | 0.0044 | 232 | c.-55 others(247): Show |
OR4F17 | ENSG00000176695.8 | transcript | ENST00000585993.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
OR4F17_chr19_102104_118156 | 107956 | T | TTATATAA others(225): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 227 | 0.0044 | 232 | c.-55 others(247): Show |
OR4F17 | ENSG00000176695.8 | transcript | ENST00000585993.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PAK1_chr11_77317017_77479094 | 77332356 | A | AGGGAAGG others(225): Show |
intron_variant | MODIFIER | HG02132.hp2 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0266 a0001c0001t0003g0267 |
2 | 302 | 0.0066 | 232 | c.155 others(249): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 14/14 | chr11 | TogoVar | |||||||
PALLD_chr4_168492052_168933441 | 168693195 | A | ACTCCTTC others(225): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0002 | a0002c0007 | a0002c0007t0005 | a0002c0007t0005g0138 | 1 | 156 | 0.0064 | 232 | c.150 others(251): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PAPPA2_chr1_176458175_176850601 | 176731734 | T | TATATGTG others(225): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0115 | 1 | 118 | 0.0085 | 232 | c.379 others(251): Show |
PAPPA2 | ENSG00000116183.11 | transcript | ENST00000367662.5 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34605543 | A | ATATATAT others(225): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0081 | 1 | 100 | 0.0100 | 232 | c.223 others(251): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721572 | T | TATATATG others(225): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 400 | 0.0025 | 232 | c.*70 others(243): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3092 | chr20 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721572 | T | TATATATG others(225): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 |
2 | 400 | 0.0050 | 232 | c.*70 others(243): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3092 | chr20 | TogoVar | |||||||
PCED1A_chr20_2830314_2845655 | 2842844 | C | CGATAGAT others(225): Show |
upstream_gene_variant | MODIFIER | HG02602.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0020 | 1 | 436 | 0.0023 | 232 | c.-26 others(243): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | |||||||
PCED1A_chr20_2830314_2845655 | 2842844 | C | CGATAGAT others(225): Show |
upstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 436 | 0.0023 | 232 | c.-26 others(243): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | |||||||
PCED1A_chr20_2830314_2845655 | 2842874 | A | ATAGATGT others(225): Show |
upstream_gene_variant | MODIFIER | NA18966.hp1 NA18973.hp1 NA18983.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0015 | 4 | 436 | 0.0092 | 232 | c.-26 others(243): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2220 | chr20 | TogoVar | |||||||
PCNT_chr21_46319156_46450769 | 46403698 | A | ATGTGCTC others(225): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0003 | a0003c0084 | a0003c0084t0001 | a0003c0084t0001g0163 | 1 | 332 | 0.0030 | 232 | c.511 others(251): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 27/46 | chr21 | TogoVar | |||||||
PCNT_chr21_46319156_46450769 | 46403869 | C | CGGCGCGT others(225): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00621.hp1 others(52): Show |
a0003a0010a0012others(8): Show | a0003c0003a0003c0080a0010c0010others(9): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0005others(11): Show | a0003c0003t0001g0124 a0003c0003t0001g0125 a0003c0003t0001g0132 others(52): Show |
55 | 332 | 0.1657 | 232 | c.511 others(251): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 27/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCSK5_chr9_75885673_76367975 | 76063925 | A | ACCTCCCG others(225): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03486.hp2 |
a0008a0040 | a0008c0003a0040c0082 | a0008c0003t0017a0040c0082t0001 | a0008c0003t0017g0045 a0040c0082t0001g0075 |
2 | 166 | 0.0121 | 232 | c.633 others(249): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PCSK5_chr9_75885673_76367975 | 76063953 | G | GGGGGGGC others(225): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03209.hp1 NA19240.hp1 others(1): Show |
a0009a0013a0026others(1): Show | a0009c0011a0013c0087a0026c0061others(1): Show | a0009c0011t0006a0013c0087t0040a0026c0061t0004others(1): Show | a0009c0011t0006g0020 a0013c0087t0040g0098 a0026c0061t0004g0142 others(1): Show |
4 | 166 | 0.0241 | 232 | c.633 others(249): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PCSK5_chr9_75885673_76367975 | 76063964 | C | CCCCCCCA others(225): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03195.hp2 |
a0004a0007 | a0004c0058a0007c0008 | a0004c0058t0012a0007c0008t0012 | a0004c0058t0012g0054 a0007c0008t0012g0008 |
2 | 166 | 0.0121 | 232 | c.633 others(249): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101493369 | T | TTCCCTCC others(225): Show |
upstream_gene_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0022 | 1 | 336 | 0.0030 | 232 | c.-37 others(243): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 3663 | chr15 | TogoVar | |||||||
PDXK_chr21_43714129_43767299 | 43741349 | C | CGGGGGGC others(225): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0085 | a0001c0001t0085g0329 | 1 | 358 | 0.0028 | 232 | c.143 others(247): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |