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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EVC_chr4_5706201_5819305 | 5706449 | C | CATAGATA others(2184): Show |
upstream_gene_variant | MODIFIER | HG02683.hp2 | a0003 | a0003c0001 | a0003c0001t0003 | a0003c0001t0003g0059 | 1 | 288 | 0.0035 | 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 | a0004c0009t0002 | a0004c0009t0002g0054 | 1 | 95 | 0.0105 | 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 | a0001c0001t0004g0054 | 1 | 33 | 0.0303 | 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 | a0002c0052t0001g0018 a0006c0021t0001g0019 a0006c0021t0006g0020 |
3 | 6 | 0.5000 | 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 | a0009c0024t0001g0117 a0009c0024t0001g0118 |
2 | 5 | 0.4000 | 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 | 4 | 0.2500 | 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 | 156 | 0.0064 | 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 | 8 | 0.1250 | 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 | 8 | 0.1250 | 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 | 9 | 0.2222 | 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 | a0001c0002t0001g0026 | 1 | 144 | 0.0069 | 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 | 327 | 0.0031 | 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 | a0001c0001t0003g0166 | 1 | 233 | 0.0043 | 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 | 205 | 0.0049 | 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 | 205 | 0.0049 | 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 | a0001c0001t0003g0185 | 1 | 249 | 0.0040 | 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(26): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0008others(7): Show | a0001c0001t0002a0001c0001t0018a0001c0001t0019others(21): Show | a0001c0001t0002g0088 a0001c0001t0002g0097 a0001c0001t0002g0110 others(25): Show |
29 | 79 | 0.3671 | 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 | a0002c0002t0072 | a0002c0002t0072g0145 | 1 | 51 | 0.0196 | 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 |
a0001a0013a0020 | a0001c0053a0013c0050a0020c0040 | a0001c0053t0002a0013c0050t0001a0020c0040t0004 | a0001c0053t0002g0031 a0013c0050t0001g0050 a0020c0040t0004g0270 |
3 | 6 | 0.5000 | 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 | 32 | 0.0313 | 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 | a0001c0005t0002g0203 | 1 | 260 | 0.0038 | 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 | a0001c0001t0003g0111 | 1 | 162 | 0.0062 | 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 | a0001c0001t0050 | a0001c0001t0050g0117 | 1 | 35 | 0.0286 | 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 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0127 | 1 | 196 | 0.0051 | 2193 | c.-42 others(2204): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3992 | chr19 | TogoVar | |||||||
GALNT18_chr11_11265877_11627005 | 11269891 | A | ATCATTAA others(2186): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0006 | 1 | 156 | 0.0064 | 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 | a0001c0001t0035 | a0001c0001t0035g0109 | 1 | 279 | 0.0036 | 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 | a0007c0017t0022a0008c0019t0057 | a0007c0017t0022g0219 a0007c0017t0022g0220 a0008c0019t0057g0213 |
3 | 53 | 0.0566 | 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 | a0010c0018t0090 | a0010c0018t0090g0189 | 1 | 51 | 0.0196 | 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 |
a0005a0053 | a0005c0008a0005c0022a0053c0112 | a0005c0008t0001a0005c0022t0001a0053c0112t0001 | a0005c0008t0001g0001 a0005c0008t0001g0101 a0005c0022t0001g0001 others(3): Show |
11 | 165 | 0.0667 | 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 | 199 | 0.0050 | 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 | a0001c0001t0007g0086 | 1 | 393 | 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 | a0001c0001t0001g0054 | 1 | 249 | 0.0040 | 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 | a0001c0001t0003g0019 | 1 | 249 | 0.0040 | 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 | HG00544.hp1 NA19010.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0004 | a0001c0001t0003g0021 a0001c0003t0004g0020 |
2 | 250 | 0.0080 | 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 | NA19063.hp1 | a0005 | a0005c0004 | a0005c0004t0004 | a0005c0004t0004g0013 | 1 | 249 | 0.0040 | 2194 | c.228 others(2211): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706349 | G | GATAGATA others(2187): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0179 | 1 | 249 | 0.0040 | 2194 | c.228 others(2211): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706337 | G | GATAGATA others(2187): Show |
upstream_gene_variant | MODIFIER | HG03239.hp2 | a0005 | a0005c0019 | a0005c0019t0007 | a0005c0019t0007g0246 | 1 | 311 | 0.0032 | 2194 | c.-50 others(2205): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4863 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706337 | G | GATAGATA others(2187): Show |
upstream_gene_variant | MODIFIER | NA18955.hp1 | a0011 | a0011c0025 | a0011c0025t0001 | a0011c0025t0001g0226 | 1 | 311 | 0.0032 | 2194 | c.-50 others(2205): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4863 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706337 | G | GATAGATA others(2187): Show |
upstream_gene_variant | MODIFIER | NA19003.hp2 | a0005 | a0005c0019 | a0005c0019t0005 | a0005c0019t0005g0256 | 1 | 311 | 0.0032 | 2194 | c.-50 others(2205): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4863 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706337 | G | GATAGATA others(2187): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 | a0007 | a0007c0110 | a0007c0110t0002 | a0007c0110t0002g0223 | 1 | 311 | 0.0032 | 2194 | c.-50 others(2205): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4863 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706337 | G | GATAGATA others(2187): Show |
upstream_gene_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0229 a0005c0007t0003g0311 |
2 | 312 | 0.0064 | 2194 | c.-50 others(2205): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4863 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706337 | G | GATAGATA others(2187): Show |
upstream_gene_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0337 | 1 | 311 | 0.0032 | 2194 | c.-50 others(2205): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4863 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706337 | G | GATAGATA others(2187): Show |
upstream_gene_variant | MODIFIER | NA19078.hp1 | a0062 | a0062c0109 | a0062c0109t0001 | a0062c0109t0001g0237 | 1 | 311 | 0.0032 | 2194 | c.-50 others(2205): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4863 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706337 | G | GATAGATA others(2187): Show |
upstream_gene_variant | MODIFIER | NA19057.hp2 | a0007 | a0007c0018 | a0007c0018t0001 | a0007c0018t0001g0257 | 1 | 311 | 0.0032 | 2194 | c.-50 others(2205): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4863 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2187): Show |
upstream_gene_variant | MODIFIER | HG03139.hp2 | a0044 | a0044c0085 | a0044c0085t0004 | a0044c0085t0004g0297 | 1 | 318 | 0.0031 | 2194 | c.-50 others(2205): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2187): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0004 | a0001c0004t0024 | a0001c0004t0024g0081 | 1 | 51 | 0.0196 | 2194 | c.183 others(2211): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(2187): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0144 | 1 | 6 | 0.1667 | 2194 | c.368 others(2211): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
NCOA3_chr20_47496887_47661872 | 47554539 | C | CACAAGCA others(2187): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0006 | a0006c0008 | a0006c0008t0014 | a0006c0008t0014g0032 | 1 | 259 | 0.0039 | 2194 | c.-98 others(2213): Show |
NCOA3 | ENSG00000124151.19 | transcript | ENST00000371998.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 43036235 | C | CAAAAAAA others(2187): Show |
downstream_gene_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 351 | 0.0028 | 2194 | c.*61 others(2205): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 2305 | chr21 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246324972 | A | AGGAGAAG others(2187): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0025 | 1 | 144 | 0.0069 | 2194 | c.531 others(2211): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar |