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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCT others(2183): Show |
downstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 391 | 0.0026 | 2190 | c.*36 others(2201): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | ||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(2183): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0021 | 1 | 392 | 0.0026 | 2190 | c.128 others(2205): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706337 | G | GATAGATA others(2183): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0014 | a0014c0021 | a0014c0021t0003 | a0014c0021t0003g0017 | 1 | 292 | 0.0034 | 2190 | c.228 others(2207): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706337 | G | GATAGATA others(2183): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0009 | 1 | 292 | 0.0034 | 2190 | c.228 others(2207): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706337 | G | GATAGATA others(2183): Show |
upstream_gene_variant | MODIFIER | HG02132.hp2 | a0005 | a0005c0117 | a0005c0117t0041 | a0005c0117t0041g0227 | 1 | 369 | 0.0027 | 2190 | c.-50 others(2201): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4863 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706337 | G | GATAGATA others(2183): Show |
upstream_gene_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0149 | 1 | 369 | 0.0027 | 2190 | c.-50 others(2201): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4863 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706337 | G | GATAGATA others(2183): Show |
upstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0119 | 1 | 369 | 0.0027 | 2190 | c.-50 others(2201): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4863 | chr4 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323366 | T | TATGGAAT others(2183): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0138 | 1 | 323 | 0.0031 | 2190 | c.-16 others(2201): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1603 | chr21 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2183): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01261.hp1 NA20805.hp1 |
a0001a0002a0003 | a0001c0001a0002c0010a0003c0003 | a0001c0001t0057a0002c0010t0019a0003c0003t0102 | a0001c0001t0057g0066a0002c0010t0019g0128a0003c0003t0102g0173 | 3 | 238 | 0.0126 | 2190 | c.183 others(2207): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2183): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0004 | a0001c0004t0062 | a0001c0004t0062g0109 | 1 | 238 | 0.0042 | 2190 | c.183 others(2207): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATTTA others(2183): Show |
upstream_gene_variant | MODIFIER | HG04199.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003 | 1 | 432 | 0.0023 | 2190 | c.-20 others(2201): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
RTEL1_chr20_63653312_63701245 | 63693708 | A | ACCTCCAC others(2183): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0029 | 1 | 60 | 0.0167 | 2190 | c.299 others(2207): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TUBGCP5_chr15_22994177_23044569 | 23044314 | T | TCACCTGG others(2183): Show |
upstream_gene_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 351 | 0.0029 | 2190 | c.-47 others(2201): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 4746 | chr15 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238871146 | C | CCACACAC others(2183): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 338 | 0.0030 | 2190 | c.*35 others(2209): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
VCX2_chrX_8164944_8176267 | 8169360 | C | CCACCTCT others(2183): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 | a0010 | a0010c0020 | a0010c0020t0001 | a0010c0020t0001g0036 | 1 | 115 | 0.0087 | 2190 | c.*67 others(2199): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 583 | chrX | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706449 | C | CATAGATA others(2184): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0290 | 1 | 292 | 0.0034 | 2191 | c.228 others(2208): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706449 | C | CATAGATA others(2184): Show |
upstream_gene_variant | MODIFIER | HG02683.hp2 | a0003 | a0003c0001 | a0003c0001t0003 | a0003c0001t0003g0059 | 1 | 369 | 0.0027 | 2191 | c.-49 others(2202): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4751 | chr4 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(2184): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0004 | a0004c0009 | a0004c0009t0010 | a0004c0009t0010g0055 | 1 | 158 | 0.0063 | 2191 | c.*11 others(2212): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | ||||||
LGR6_chr1_202188799_202324761 | 202205410 | C | CCAGCACA others(2184): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0055 | 1 | 262 | 0.0038 | 2191 | c.212 others(2210): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2184): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02896.hp2 HG02970.hp2 |
a0002a0006 | a0002c0052a0006c0021 | a0002c0052t0001a0006c0021t0001a0006c0021t0006 | a0002c0052t0001g0018a0006c0021t0001g0020a0006c0021t0006g0019 | 3 | 294 | 0.0102 | 2191 | c.515 others(2208): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2184): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03516.hp1 |
a0009 | a0009c0024 | a0009c0024t0001 | a0009c0024t0001g0117a0009c0024t0001g0118 | 2 | 294 | 0.0068 | 2191 | c.515 others(2208): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2184): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0241 | 1 | 294 | 0.0034 | 2191 | c.515 others(2208): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
NXN_chr17_794310_984776 | 952622 | T | TGGGGGGG others(2184): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0129 | 1 | 242 | 0.0041 | 2191 | c.360 others(2210): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATATA others(2184): Show |
upstream_gene_variant | MODIFIER | HG02738.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003 | 1 | 432 | 0.0023 | 2191 | c.-20 others(2202): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATATT others(2184): Show |
upstream_gene_variant | MODIFIER | NA19010.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003 | 1 | 432 | 0.0023 | 2191 | c.-20 others(2202): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATTTA others(2184): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003 | 2 | 432 | 0.0046 | 2191 | c.-20 others(2202): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246324972 | A | AGGAGAAG others(2184): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0056 | 1 | 150 | 0.0067 | 2191 | c.531 others(2208): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
TUBGCP5_chr15_22994177_23044569 | 23044314 | T | TCACCTGG others(2184): Show |
upstream_gene_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 351 | 0.0029 | 2191 | c.-47 others(2202): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 4746 | chr15 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208176941 | C | CTGTATAC others(2185): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0172 | 1 | 342 | 0.0029 | 2192 | c.366 others(2209): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
CCDC88C_chr14_91266323_91422820 | 91293493 | T | TCCTCACC others(2185): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0124 | 1 | 284 | 0.0035 | 2192 | c.411 others(2209): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
CCDC88C_chr14_91266323_91422820 | 91293493 | T | TCCTCACC others(2185): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0002 | a0002c0061 | a0002c0061t0001 | a0002c0061t0001g0010 | 1 | 284 | 0.0035 | 2192 | c.411 others(2209): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2185): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0186 | 1 | 301 | 0.0033 | 2192 | c.-11 others(2203): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2185): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(27): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0008others(7): Show | a0001c0001t0002a0001c0001t0018a0001c0001t0019others(22): Show | a0001c0001t0002g0090a0001c0001t0002g0099a0001c0001t0002g0111others(26): Show | 30 | 238 | 0.1261 | 2192 | c.183 others(2209): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2185): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0002 | a0002c0002 | a0002c0002t0073 | a0002c0002t0073g0146 | 1 | 238 | 0.0042 | 2192 | c.183 others(2209): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2185): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03195.hp1 NA18522.hp1 |
a0001a0014a0017 | a0001c0053a0014c0040a0017c0050 | a0001c0053t0002a0014c0040t0004a0017c0050t0001 | a0001c0053t0002g0031a0014c0040t0004g0270a0017c0050t0001g0051 | 3 | 294 | 0.0102 | 2192 | c.515 others(2209): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2185): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0011 | a0011c0011 | a0011c0011t0001 | a0011c0011t0001g0084 | 1 | 292 | 0.0034 | 2192 | c.218 others(2207): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50397972 | C | CGGGGGGG others(2185): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0200 | 1 | 340 | 0.0029 | 2192 | c.227 others(2209): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | chr22 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123453143 | T | TATATAAA others(2185): Show |
upstream_gene_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0109 | 1 | 186 | 0.0054 | 2192 | c.-50 others(2203): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4995 | chr12 | TogoVar | ||||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(2185): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0121 | 1 | 126 | 0.0079 | 2192 | c.-28 others(2211): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
CNOT3_chr19_54132762_54160681 | 54133769 | C | CTCTTCCT others(2186): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0133 | 1 | 223 | 0.0045 | 2193 | c.-42 others(2204): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3992 | chr19 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716390 | T | TTGGTGTC others(2186): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 170 | 0.0059 | 2193 | c.86- others(2206): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GALNT18_chr11_11265877_11627005 | 11269891 | A | ATCATTAA others(2186): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0006 | 1 | 260 | 0.0039 | 2193 | c.*12 others(2204): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 985 | chr11 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252896 | T | TCACCACC others(2186): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0106 | 1 | 366 | 0.0027 | 2193 | c.666 others(2210): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2186): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02896.hp1 HG02897.hp1 |
a0007a0008 | a0007c0017a0008c0019 | a0007c0017t0022a0008c0019t0058 | a0007c0017t0022g0219a0007c0017t0022g0220a0008c0019t0058g0213 | 3 | 238 | 0.0126 | 2193 | c.183 others(2210): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2186): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0010 | a0010c0018 | a0010c0018t0091 | a0010c0018t0091g0190 | 1 | 238 | 0.0042 | 2193 | c.183 others(2210): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
MUC5AC_chr11_1152953_1206138 | 1190169 | G | GGAGGTGA others(2186): Show |
disruptive_inframe_insertion | MODERATE | HG00408.hp2 HG02132.hp2 HG02155.hp1 others(8): Show |
a0005a0046 | a0005c0008a0005c0022a0046c0111 | a0005c0008t0001a0005c0022t0001a0046c0111t0001 | a0005c0008t0001g0003a0005c0008t0001g0005a0005c0008t0001g0010others(6): Show | 11 | 292 | 0.0377 | 2193 | c.120 others(2204): Show |
p.Arg others(2208): Show |
MUC5AC | ENSG00000215182.8 | transcript | ENST00000621226.2 | protein_coding | 31/49 | 12116/17448 | 12069/16965 | 4023/5654 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
PRPF31_chr19_54110754_54136713 | 54133769 | C | CTCTTCCT others(2186): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 227 | 0.0044 | 2193 | c.*23 others(2204): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2057 | chr19 | TogoVar | ||||||
RRH_chr4_109822972_109849942 | 109839042 | T | TCTAATTT others(2186): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0088 | 1 | 402 | 0.0025 | 2193 | c.720 others(2210): Show |
RRH | ENSG00000180245.7 | transcript | ENST00000317735.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EVC2_chr4_5557439_5713559 | 5706337 | G | GATAGATA others(2187): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 292 | 0.0034 | 2194 | c.228 others(2211): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706337 | G | GATAGATA others(2187): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018 | 1 | 292 | 0.0034 | 2194 | c.228 others(2211): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar |