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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DLGAP2_chr8_732628_1713476 | 802065 | C | CCCTCCTG others(2243): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0027 | 1 | 40 | 0.0250 | 2250 | c.18+ others(2267): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 802065 | C | CCCTCCTG others(2243): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0032 | 1 | 40 | 0.0250 | 2250 | c.18+ others(2267): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
EVC2_chr4_5557439_5713559 | 5706313 | G | GATAGATA others(2243): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03195.hp2 |
a0010 | a0010c0029 | a0010c0029t0002 | a0010c0029t0002g0226a0010c0029t0002g0227 | 2 | 292 | 0.0069 | 2250 | c.228 others(2267): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706349 | G | GATAGATA others(2243): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0202 | 1 | 292 | 0.0034 | 2250 | c.228 others(2267): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706349 | G | GATAGATA others(2243): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0189 | 1 | 292 | 0.0034 | 2250 | c.228 others(2267): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706349 | G | GATAGATA others(2243): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0181 | 1 | 292 | 0.0034 | 2250 | c.228 others(2267): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706313 | G | GATAGATA others(2243): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG03195.hp1 |
a0016 | a0016c0034 | a0016c0034t0015 | a0016c0034t0015g0206a0016c0034t0015g0307 | 2 | 369 | 0.0054 | 2250 | c.-50 others(2261): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4887 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2243): Show |
upstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0241 | 1 | 369 | 0.0027 | 2250 | c.-50 others(2261): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132241748 | A | ACACACAC others(2243): Show |
intron_variant | MODIFIER | NA18945.hp2 NA18980.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044a0001c0001t0001g0045 | 2 | 183 | 0.0109 | 2250 | c.107 others(2269): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399457 | C | CCATCACC others(2243): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0058 | 1 | 314 | 0.0032 | 2250 | c.-25 others(2267): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2243): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03041.hp2 NA21309.hp1 |
a0002 | a0002c0009a0002c0010 | a0002c0009t0118a0002c0009t0119a0002c0010t0095 | a0002c0009t0118g0231a0002c0009t0119g0229a0002c0010t0095g0142 | 3 | 238 | 0.0126 | 2250 | c.183 others(2267): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17877252 | G | GGGAGGTT others(2243): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0034 | 1 | 274 | 0.0037 | 2250 | c.224 others(2269): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43499097 | G | GTGGAGGT others(2243): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0058 | 1 | 250 | 0.0040 | 2250 | c.748 others(2265): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
NXN_chr17_794310_984776 | 952622 | T | TGGGGGGG others(2243): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0205 | 1 | 242 | 0.0041 | 2250 | c.360 others(2269): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
PIP5K1C_chr19_3625183_3705468 | 3649063 | A | ATGCCCAC others(2243): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0312a0001c0003t0007g0313 | 2 | 332 | 0.0060 | 2250 | c.112 others(2267): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TTTATACA others(2243): Show |
upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0016 | 1 | 432 | 0.0023 | 2250 | c.-20 others(2261): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431785 | G | GATAGGGT others(2243): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0008 | 1 | 376 | 0.0027 | 2250 | c.101 others(2269): 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(2243): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0193 | 1 | 376 | 0.0027 | 2250 | c.101 others(2267): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SMYD3_chr1_245744347_246512279 | 246325098 | C | CGGGGGGG others(2243): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 150 | 0.0067 | 2250 | c.531 others(2267): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2244): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0209 | 1 | 371 | 0.0027 | 2251 | c.*92 others(2262): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2244): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0100 | 1 | 390 | 0.0026 | 2251 | c.972 others(2264): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GLIS2_chr16_4311067_4344595 | 4344496 | C | CTGTGAGA others(2244): Show |
downstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 395 | 0.0025 | 2251 | c.*69 others(2262): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4902 | chr16 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2244): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0187 | 1 | 301 | 0.0033 | 2251 | c.-11 others(2262): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2244): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0019 | a0019c0022 | a0019c0022t0001 | a0019c0022t0001g0155 | 1 | 186 | 0.0054 | 2251 | c.723 others(2268): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
PAM16_chr16_4335251_4356321 | 4344496 | C | CTGTGAGA others(2244): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 367 | 0.0027 | 2251 | c.4-1 others(2264): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2244): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 361 | 0.0028 | 2251 | c.-48 others(2262): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870126 | A | ACACACCA others(2244): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 338 | 0.0030 | 2251 | c.*35 others(2270): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(2244): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0004 | a0004c0005 | a0004c0005t0005 | a0004c0005t0005g0039 | 1 | 126 | 0.0079 | 2251 | c.-28 others(2270): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137355710 | A | AGGAAGGA others(2245): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 82 | 0.0122 | 2252 | c.757 others(2267): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | ||||||
FRMPD3_chrX_107444652_107610251 | 107592724 | T | TGCCCCCC others(2245): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0038 | 1 | 183 | 0.0055 | 2252 | c.144 others(2271): Show |
FRMPD3 | ENSG00000147234.11 | transcript | ENST00000683843.1 | protein_coding | 13/14 | chrX | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2245): Show |
downstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 375 | 0.0027 | 2252 | c.*44 others(2263): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2246): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 316 | 0.0032 | 2253 | c.44- others(2266): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2246): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0179 | 1 | 294 | 0.0034 | 2253 | c.515 others(2270): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
NXN_chr17_794310_984776 | 952622 | T | TGGGGGGG others(2246): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 242 | 0.0041 | 2253 | c.360 others(2272): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2246): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0010 | a0010c0010 | a0010c0010t0002 | a0010c0010t0002g0192 | 1 | 216 | 0.0046 | 2253 | c.801 others(2270): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492460 | G | GGGAGACC others(2246): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0091 | 1 | 295 | 0.0034 | 2253 | c.126 others(2272): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2247): Show |
downstream_gene_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 371 | 0.0027 | 2254 | c.*92 others(2265): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706313 | G | GATAGATA others(2247): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0007 | a0007c0028 | a0007c0028t0002 | a0007c0028t0002g0223 | 1 | 292 | 0.0034 | 2254 | c.228 others(2271): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706349 | G | GATAGATA others(2247): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0203 | 1 | 292 | 0.0034 | 2254 | c.228 others(2271): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706437 | G | GATAGACA others(2247): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0008 | a0008c0020 | a0008c0020t0001 | a0008c0020t0001g0134 | 1 | 292 | 0.0034 | 2254 | c.228 others(2271): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706313 | G | GATAGATA others(2247): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 | a0066 | a0066c0101 | a0066c0101t0019 | a0066c0101t0019g0158 | 1 | 369 | 0.0027 | 2254 | c.-50 others(2265): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4887 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2247): Show |
upstream_gene_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0259 | 1 | 369 | 0.0027 | 2254 | c.-50 others(2265): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706437 | G | GATAGACA others(2247): Show |
upstream_gene_variant | MODIFIER | HG03540.hp2 | a0052 | a0052c0086 | a0052c0086t0013 | a0052c0086t0013g0360 | 1 | 369 | 0.0027 | 2254 | c.-49 others(2265): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4763 | chr4 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2247): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 294 | 0.0034 | 2254 | c.515 others(2271): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2247): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0052 | a0052c0052 | a0052c0052t0001 | a0052c0052t0001g0187 | 1 | 216 | 0.0046 | 2254 | c.801 others(2271): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
SCUBE2_chr11_9014476_9096599 | 9083005 | C | CTCCCCCT others(2247): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0004 | a0004c0004 | a0004c0004t0007 | a0004c0004t0007g0321 | 1 | 358 | 0.0028 | 2254 | c.257 others(2271): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 2/22 | chr11 | TogoVar | ||||||
THEG_chr19_356747_381026 | 377528 | G | GCCCCACC others(2247): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0125 | 1 | 370 | 0.0027 | 2254 | c.-15 others(2265): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1503 | chr19 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2247): Show |
upstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0021 | 1 | 361 | 0.0028 | 2254 | c.-48 others(2265): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
ZDHHC20_chr13_21367571_21464303 | 21377652 | T | TGCCCGAC others(2247): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0032 | 1 | 302 | 0.0033 | 2254 | c.*41 others(2269): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 477345 | A | AGGGGAGG others(2248): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025 | 1 | 88 | 0.0114 | 2255 | c.158 others(2272): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar |