| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MBD3L3_chr19_7051207_7063676 | 7061735 | T | TATATATA others(240): Show |
upstream_gene_variant | MODIFIER | NA18964.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0005 | 1 | 288 | 0.0035 | 247 | c.-31 others(258): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3060 | chr19 | TogoVar | ||||||
| MBD3L3_chr19_7051207_7063676 | 7061735 | T | TATATATA others(240): Show |
upstream_gene_variant | MODIFIER | NA18966.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0016 | 1 | 288 | 0.0035 | 247 | c.-31 others(258): Show |
MBD3L3 | ENSG00000182315.10 | transcript | ENST00000333843.9 | protein_coding | 3060 | chr19 | TogoVar | ||||||
| MEAK7_chr16_84471355_84509659 | 84479390 | G | GCTAATGC others(240): Show |
3_prime_UTR_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0003 | a0002c0003t0128 | a0002c0003t0128g0404 | 1 | 468 | 0.0021 | 247 | c.*52 others(256): Show |
MEAK7 | ENSG00000140950.16 | transcript | ENST00000343629.11 | protein_coding | 8/8 | 522 | chr16 | TogoVar | |||||
| MID2_chrX_107820866_107936637 | 107910838 | C | CTTTCCTT others(240): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0136 | 1 | 181 | 0.0055 | 247 | c.107 others(266): Show |
MID2 | ENSG00000080561.14 | transcript | ENST00000262843.11 | protein_coding | 5/9 | chrX | TogoVar | ||||||
| MOXD1_chr6_132291055_132406475 | 132385650 | A | ATTTTTTT others(240): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 318 | 0.0031 | 247 | c.265 others(266): Show |
MOXD1 | ENSG00000079931.15 | transcript | ENST00000367963.8 | protein_coding | 1/11 | chr6 | TogoVar | ||||||
| MSR1_chr8_16102881_16197651 | 16189541 | T | TTATATAT others(240): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0067 | 1 | 330 | 0.0030 | 247 | c.-5+ others(262): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
| MXRA8_chr1_1347691_1363555 | 1351094 | C | CGGGGGGG others(240): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0008 | 1 | 338 | 0.0030 | 247 | c.*25 others(258): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 1596 | chr1 | TogoVar | ||||||
| MYT1_chr20_64159452_64247253 | 64175477 | C | CCTGCAGC others(240): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0041 | 1 | 223 | 0.0045 | 247 | c.-99 others(266): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| MYT1_chr20_64159452_64247253 | 64175630 | C | CCTGCAGC others(240): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 223 | 0.0045 | 247 | c.-99 others(266): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| MYT1_chr20_64159452_64247253 | 64176333 | C | CCTCCTGC others(240): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0077 | 1 | 223 | 0.0045 | 247 | c.-99 others(266): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| MYT1_chr20_64159452_64247253 | 64176333 | C | CCTCCTGC others(240): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0139 | 1 | 223 | 0.0045 | 247 | c.-99 others(266): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| NCAPH2_chr22_50503224_50529780 | 50504140 | A | ACCCCCCC others(240): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 | 1 | 384 | 0.0026 | 247 | c.-41 others(258): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 4083 | chr22 | TogoVar | ||||||
| NCAPH2_chr22_50503224_50529780 | 50504140 | A | ACCCCCCC others(240): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 1 | 384 | 0.0026 | 247 | c.-41 others(258): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 4083 | chr22 | TogoVar | ||||||
| NECAB1_chr8_90786775_90964393 | 90795669 | C | CCCCTCTG others(240): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0185 | 1 | 248 | 0.0040 | 247 | c.99+ others(262): Show |
NECAB1 | ENSG00000123119.12 | transcript | ENST00000417640.7 | protein_coding | 1/12 | chr8 | TogoVar | ||||||
| NEDD4L_chr18_58039226_58406539 | 58171438 | G | GCCCGCCT others(240): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0078 | 1 | 118 | 0.0085 | 247 | c.122 others(264): Show |
NEDD4L | ENSG00000049759.20 | transcript | ENST00000400345.8 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| NEGR1_chr1_71390943_72287539 | 71793264 | A | ATATATAT others(240): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02055.hp2 HG02647.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0026a0001c0001t0002g0043a0001c0001t0003g0030others(4): Show | 7 | 64 | 0.1094 | 247 | c.410 others(266): Show |
NEGR1 | ENSG00000172260.15 | transcript | ENST00000357731.10 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
| NFILZ_chr19_8625633_8686151 | 8656499 | C | CAGCGCAC others(240): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0009 | a0009c0008 | a0009c0008t0040 | a0009c0008t0040g0289 | 1 | 366 | 0.0027 | 247 | c.-16 others(268): Show |
NFILZ | ENSG00000268480.4 | transcript | ENST00000691075.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTATAT others(240): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0308 | 1 | 362 | 0.0028 | 247 | c.-75 others(266): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
| NKD2_chr5_1003802_1043943 | 1024236 | T | TCAGCCCG others(240): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0005 | a0005c0009 | a0005c0009t0010 | a0005c0009t0010g0111 | 1 | 319 | 0.0031 | 247 | c.142 others(264): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| NKD2_chr5_1003802_1043943 | 1024396 | C | CGTCTCAG others(240): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02572.hp2 HG03098.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010 | a0001c0001t0003g0004a0001c0001t0003g0112a0001c0001t0010g0004 | 5 | 319 | 0.0157 | 247 | c.142 others(264): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| NKD2_chr5_1003802_1043943 | 1024396 | C | CGTCTCAG others(240): Show |
intron_variant | MODIFIER | HG02258.hp1 NA21309.hp1 |
a0001a0008 | a0001c0001a0008c0011 | a0001c0001t0003a0008c0011t0016 | a0001c0001t0003g0113a0008c0011t0016g0263 | 2 | 319 | 0.0063 | 247 | c.142 others(264): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| NKD2_chr5_1003802_1043943 | 1025384 | T | TCAGCCCA others(240): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0077 | 1 | 319 | 0.0031 | 247 | c.142 others(264): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| NOP14_chr4_2932936_2968406 | 2961216 | A | ATTGTTAG others(240): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 422 | 0.0024 | 247 | c.195 others(264): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
| NOP14_chr4_2932936_2968406 | 2961219 | T | TAGTAACT others(240): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0306 | 1 | 422 | 0.0024 | 247 | c.195 others(264): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
| NT5C1A_chr1_39646229_39677107 | 39664492 | T | TCCTCCTC others(240): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0116 | 1 | 326 | 0.0031 | 247 | c.433 others(264): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
| OR11H4_chr14_20234286_20249349 | 20237780 | T | TAGTATAT others(240): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 439 | 0.0023 | 247 | c.-15 others(258): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1505 | chr14 | TogoVar | ||||||
| PAM16_chr16_4335251_4356321 | 4344737 | A | AGGGGGTT others(240): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235a0001c0001t0001g0242 | 2 | 367 | 0.0055 | 247 | c.4-1 others(260): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
| PARD3_chr10_34104561_34820296 | 34605543 | A | ATATATAT others(240): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 100 | 0.0100 | 247 | c.223 others(266): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | ||||||
| PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(240): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0026a0001c0002t0002g0026 | 2 | 400 | 0.0050 | 247 | c.*70 others(258): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | ||||||
| PCCA_chr13_100084093_100535435 | 100479861 | A | AGCTGGTT others(240): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01884.hp2 HG02055.hp1 others(22): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0006a0001c0001t0001g0035a0001c0001t0001g0036others(22): Show | 25 | 174 | 0.1437 | 247 | c.189 others(268): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PCLO_chr7_82749012_83167884 | 83096958 | T | TATAATAT others(240): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0020 | a0020c0072 | a0020c0072t0002 | a0020c0072t0002g0023 | 1 | 188 | 0.0053 | 247 | c.330 others(268): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
| PCSK6_chr15_101298933_101494707 | 101493369 | T | TTCCCTCC others(240): Show |
upstream_gene_variant | MODIFIER | NA20129.hp1 | a0004 | a0004c0014 | a0004c0014t0001 | a0004c0014t0001g0062 | 1 | 336 | 0.0030 | 247 | c.-37 others(258): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 3663 | chr15 | TogoVar | ||||||
| PDXK_chr21_43714129_43767299 | 43741280 | G | GGGGGGCT others(240): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0301 | 1 | 358 | 0.0028 | 247 | c.143 others(262): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PERM1_chr1_970198_987093 | 977444 | C | CCAACCCG others(240): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0095 | 1 | 408 | 0.0025 | 247 | c.215 others(264): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
| PERM1_chr1_970198_987093 | 977476 | C | CCAACCCC others(240): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 408 | 0.0025 | 247 | c.215 others(264): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
| PERM1_chr1_970198_987093 | 977476 | C | CCAACCCG others(240): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02015.hp2 HG02083.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0003a0001c0001t0001g0035a0001c0001t0001g0038others(5): Show | 9 | 408 | 0.0221 | 247 | c.215 others(264): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
| PERM1_chr1_970198_987093 | 977604 | C | CCAACCCG others(240): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0023 | a0023c0017 | a0023c0017t0001 | a0023c0017t0001g0081 | 1 | 408 | 0.0025 | 247 | c.215 others(264): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
| PEX5_chr12_7184686_7216459 | 7196972 | A | ATAATTAT others(240): Show |
intron_variant | MODIFIER | NA18997.hp1 NA19070.hp2 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030a0001c0001t0003g0210 | 3 | 428 | 0.0070 | 247 | c.449 others(264): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PGAP6_chr16_365788_386978 | 378520 | A | ATCGCCAC others(240): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 | 1 | 376 | 0.0027 | 247 | c.122 others(262): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 1/12 | chr16 | TogoVar | ||||||
| PKD1_chr16_2083708_2140898 | 2104210 | G | GAAGGGGG others(240): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0062 | a0062c0060 | a0062c0060t0002 | a0062c0060t0002g0196 | 1 | 216 | 0.0046 | 247 | c.816 others(264): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 22/45 | chr16 | TogoVar | ||||||
| PKHD1_chr6_51610299_52092613 | 51981304 | G | GCTCCCCC others(240): Show |
intron_variant | MODIFIER | HG01952.hp1 NA18964.hp2 |
a0004a0023 | a0004c0008a0023c0044 | a0004c0008t0011a0023c0044t0001 | a0004c0008t0011g0026a0023c0044t0001g0044 | 2 | 134 | 0.0149 | 247 | c.575 others(268): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | ||||||
| PKHD1_chr6_51610299_52092613 | 51989917 | A | AGGGAGGG others(240): Show |
intron_variant | MODIFIER | HG04184.hp1 HG04228.hp2 |
a0001a0002 | a0001c0032a0002c0005 | a0001c0032t0001a0002c0005t0004 | a0001c0032t0001g0075a0002c0005t0004g0076 | 2 | 134 | 0.0149 | 247 | c.575 others(268): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | ||||||
| PKP3_chr11_389209_409908 | 401131 | C | CCCCGGCC others(240): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0146 | 1 | 216 | 0.0046 | 247 | c.173 others(264): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PKP3_chr11_389209_409908 | 401378 | C | CCCCGGCC others(240): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0140 | 1 | 216 | 0.0046 | 247 | c.173 others(264): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PLEKHN1_chr1_961482_980865 | 977128 | C | CCAACCCG others(240): Show |
downstream_gene_variant | MODIFIER | HG01993.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0004 | 1 | 422 | 0.0024 | 247 | c.*25 others(258): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1264 | chr1 | TogoVar | ||||||
| PLEKHN1_chr1_961482_980865 | 977444 | C | CCAACCCG others(240): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG03942.hp2 NA18952.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0011 | 3 | 422 | 0.0071 | 247 | c.*28 others(258): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1580 | chr1 | TogoVar | ||||||
| PLEKHN1_chr1_961482_980865 | 977476 | C | CCAACCCC others(240): Show |
downstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | 247 | c.*29 others(258): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1612 | chr1 | TogoVar | ||||||
| PLEKHN1_chr1_961482_980865 | 977476 | C | CCAACCCG others(240): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 HG02074.hp1 HG02083.hp1 others(8): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0016a0001c0001t0028others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0057a0001c0001t0001g0137others(5): Show | 11 | 422 | 0.0261 | 247 | c.*29 others(258): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1612 | chr1 | TogoVar | ||||||
| PLEKHN1_chr1_961482_980865 | 977604 | C | CCAACCCG others(240): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0004 | a0004c0028 | a0004c0028t0001 | a0004c0028t0001g0154 | 1 | 422 | 0.0024 | 247 | c.*30 others(258): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1740 | chr1 | TogoVar | ||||||
| PNMA5_chrX_152983824_152999116 | 152998747 | A | AATATATA others(240): Show |
upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 286 | 0.0035 | 247 | c.-50 others(258): Show |
PNMA5 | ENSG00000198883.12 | transcript | ENST00000535214.6 | protein_coding | 4632 | chrX | TogoVar |