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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(2283): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 290 | 0.0035 | 2290 | c.162 others(2309): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
FAM240C_chr2_241888988_241905464 | 241896531 | T | TGGGGGTG others(2283): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0010 | 1 | 37 | 0.0270 | 2290 | c.161 others(2305): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2283): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0020 | a0001c0020t0005 | a0001c0020t0005g0186 | 1 | 322 | 0.0031 | 2290 | c.439 others(2307): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2283): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0015 | a0015c0020 | a0015c0020t0001 | a0015c0020t0001g0151 | 1 | 186 | 0.0054 | 2290 | c.723 others(2307): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2283): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0006 | a0006c0005 | a0006c0005t0004 | a0006c0005t0004g0013 | 1 | 216 | 0.0046 | 2290 | c.801 others(2307): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2283): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0020 | a0020c0028 | a0020c0028t0003 | a0020c0028t0003g0001 | 1 | 216 | 0.0046 | 2290 | c.801 others(2307): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2283): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0016 | a0016c0057 | a0016c0057t0001 | a0016c0057t0001g0021 | 1 | 216 | 0.0046 | 2290 | c.801 others(2307): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130393038 | T | TGTCCGTC others(2283): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0176 | 1 | 180 | 0.0056 | 2290 | c.*43 others(2301): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 3094 | chr12 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130393038 | T | TGTCCGTC others(2283): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG03139.hp1 |
a0002a0004 | a0002c0016a0004c0040 | a0002c0016t0001a0004c0040t0001 | a0002c0016t0001g0124a0004c0040t0001g0171 | 2 | 180 | 0.0111 | 2290 | c.*43 others(2301): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 3094 | chr12 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2283): Show |
upstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0117 | 1 | 361 | 0.0028 | 2290 | c.-48 others(2301): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2283): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0114 | 1 | 361 | 0.0028 | 2290 | c.-48 others(2301): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2283): Show |
upstream_gene_variant | MODIFIER | HG01168.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0016a0001c0001t0004g0025 | 2 | 361 | 0.0055 | 2290 | c.-48 others(2301): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2283): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0071 | 1 | 361 | 0.0028 | 2290 | c.-48 others(2301): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
VCX2_chrX_8164944_8176267 | 8169856 | T | TCTTCCCC others(2283): Show |
downstream_gene_variant | MODIFIER | NA18943.hp1 | a0024 | a0024c0025 | a0024c0025t0015 | a0024c0025t0015g0044 | 1 | 115 | 0.0087 | 2290 | c.*17 others(2299): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 87 | chrX | TogoVar | ||||||
ZDHHC20_chr13_21367571_21464303 | 21377660 | A | ACGTGACC others(2283): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0064 | 1 | 302 | 0.0033 | 2290 | c.*40 others(2307): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | ||||||
CDHR2_chr5_176544342_176600824 | 176591775 | G | GTTGTGAT others(2284): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0100 | 1 | 344 | 0.0029 | 2291 | c.373 others(2308): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2284): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0289 | 1 | 371 | 0.0027 | 2291 | c.*92 others(2302): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2284): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0286 | 1 | 371 | 0.0027 | 2291 | c.*92 others(2302): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2284): Show |
downstream_gene_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0330 | 1 | 371 | 0.0027 | 2291 | c.*92 others(2302): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240185119 | C | CCCCTTCT others(2284): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0051 | a0051c0103 | a0051c0103t0001 | a0051c0103t0001g0109 | 1 | 174 | 0.0058 | 2291 | c.193 others(2310): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2284): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0166 | 1 | 322 | 0.0031 | 2291 | c.439 others(2308): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2284): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01168.hp2 HG02055.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0060a0001c0001t0003g0226a0001c0001t0004g0221others(15): Show | 18 | 322 | 0.0559 | 2291 | c.439 others(2308): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(2284): Show |
downstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 397 | 0.0025 | 2291 | c.*50 others(2302): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2284): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0006 | a0006c0110 | a0006c0110t0004 | a0006c0110t0004g0014 | 1 | 216 | 0.0046 | 2291 | c.801 others(2308): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2284): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0069 | a0069c0109 | a0069c0109t0004 | a0069c0109t0004g0012 | 1 | 216 | 0.0046 | 2291 | c.801 others(2308): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2284): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0006 | a0006c0005 | a0006c0005t0004 | a0006c0005t0004g0007 | 1 | 216 | 0.0046 | 2291 | c.801 others(2308): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2284): Show |
intron_variant | MODIFIER | HG03130.hp1 HG06807.hp1 |
a0016a0022 | a0016c0058a0022c0040 | a0016c0058t0002a0022c0040t0001 | a0016c0058t0002g0019a0022c0040t0001g0020 | 2 | 216 | 0.0093 | 2291 | c.801 others(2308): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2284): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0015 | a0015c0059 | a0015c0059t0009 | a0015c0059t0009g0018 | 1 | 216 | 0.0046 | 2291 | c.801 others(2308): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PRPF31_chr19_54110754_54136713 | 54133762 | C | CCTCTCTC others(2284): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 227 | 0.0044 | 2291 | c.*23 others(2302): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2050 | chr19 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TTTATACA others(2284): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0014 | 1 | 432 | 0.0023 | 2291 | c.-20 others(2302): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
RRH_chr4_109822972_109849942 | 109839042 | T | TCTAATTT others(2284): Show |
intron_variant | MODIFIER | HG00735.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0035 | 2 | 402 | 0.0050 | 2291 | c.720 others(2308): Show |
RRH | ENSG00000180245.7 | transcript | ENST00000317735.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2284): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0068 | 1 | 361 | 0.0028 | 2291 | c.-48 others(2302): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2284): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0151 | 1 | 361 | 0.0028 | 2291 | c.-48 others(2302): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2284): Show |
upstream_gene_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0069 | 1 | 361 | 0.0028 | 2291 | c.-48 others(2302): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2285): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0223 | 1 | 371 | 0.0027 | 2292 | c.*92 others(2303): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252899 | C | CCACCATC others(2285): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0151 | a0001c0001t0151g0104 | 1 | 366 | 0.0027 | 2292 | c.666 others(2309): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2285): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01099.hp1 HG02559.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0025a0001c0006t0007a0001c0006t0016others(3): Show | a0001c0001t0025g0001a0001c0006t0007g0033a0001c0006t0016g0031others(6): Show | 9 | 322 | 0.0280 | 2292 | c.439 others(2309): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
INS_chr11_2154779_2166209 | 2161948 | C | CACCCCTG others(2285): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 376 | 0.0027 | 2292 | c.-79 others(2301): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 740 | chr11 | TogoVar | ||||||
RRH_chr4_109822972_109849942 | 109839042 | T | TCTAATTT others(2285): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0080 | 1 | 402 | 0.0025 | 2292 | c.720 others(2309): Show |
RRH | ENSG00000180245.7 | transcript | ENST00000317735.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2285): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 361 | 0.0028 | 2292 | c.-48 others(2303): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2285): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0172 | 1 | 272 | 0.0037 | 2292 | c.389 others(2311): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CAPN11_chr6_44153820_44189401 | 44181617 | A | ACACACAC others(2286): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0055 | 1 | 460 | 0.0022 | 2293 | c.193 others(2310): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2286): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0269 | 1 | 371 | 0.0027 | 2293 | c.*92 others(2304): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586259 | G | GGGGAAAG others(2286): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 308 | 0.0033 | 2293 | c.157 others(2308): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2286): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0005 | a0005c0013 | a0005c0013t0010 | a0005c0013t0010g0229 | 1 | 322 | 0.0031 | 2293 | c.439 others(2310): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2286): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00621.hp2 others(36): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(16): Show | a0001c0001t0001g0085a0001c0001t0001g0141a0001c0001t0004g0278others(36): Show | 39 | 322 | 0.1211 | 2293 | c.439 others(2310): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2286): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0014 | 1 | 322 | 0.0031 | 2293 | c.439 others(2310): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 914617 | C | CTCCCCAT others(2286): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0183 | 1 | 294 | 0.0034 | 2293 | c.515 others(2310): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
SERPINF2_chr17_1737871_1760265 | 1741426 | G | GGAGCCTG others(2286): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0004 | 1 | 445 | 0.0023 | 2293 | c.-14 others(2304): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 1444 | chr17 | TogoVar | ||||||
SERPINF2_chr17_1737871_1760265 | 1741743 | G | GGCCTGAT others(2286): Show |
upstream_gene_variant | MODIFIER | HG03017.hp1 HG03654.hp1 HG03942.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004 | a0002c0002t0001g0009a0002c0002t0004g0009a0002c0002t0004g0096 | 3 | 445 | 0.0067 | 2293 | c.-11 others(2304): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 1127 | chr17 | TogoVar |