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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2237): Show |
intron_variant | MODIFIER | HG01071.hp2 HG03831.hp1 |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0001a0006c0010t0003 | a0001c0001t0001g0266a0006c0010t0003g0243 | 2 | 272 | 0.0074 | 2244 | c.-12 others(2265): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2237): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 | 1 | 272 | 0.0037 | 2244 | c.-12 others(2265): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2237): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0177 | 1 | 272 | 0.0037 | 2244 | c.-12 others(2265): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
RIMBP2_chr12_130391133_130721299 | 130646094 | T | TCCACCTC others(2237): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0020 | a0001c0020t0001 | a0001c0020t0001g0140 | 1 | 180 | 0.0056 | 2244 | c.-35 others(2265): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3976493 | A | GGGGTCCC others(2237): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0067 | a0001c0067t0068 | a0001c0067t0068g0001 | 1 | 116 | 0.0086 | 2244 | c.199 others(2263): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | ||||||
TRIP13_chr5_887884_923120 | 899391 | T | TCAGTCAG others(2237): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 402 | 0.0025 | 2244 | c.389 others(2261): Show |
TRIP13 | ENSG00000071539.14 | transcript | ENST00000166345.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
FRMPD3_chrX_107444652_107610251 | 107592724 | T | TGCCCCCC others(2238): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0113 | 1 | 183 | 0.0055 | 2245 | c.144 others(2264): Show |
FRMPD3 | ENSG00000147234.11 | transcript | ENST00000683843.1 | protein_coding | 13/14 | chrX | TogoVar | ||||||
FRMPD3_chrX_107444652_107610251 | 107592724 | T | TGCCCCCC others(2238): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0170 | 1 | 183 | 0.0055 | 2245 | c.144 others(2264): Show |
FRMPD3 | ENSG00000147234.11 | transcript | ENST00000683843.1 | protein_coding | 13/14 | chrX | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2238): Show |
upstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 301 | 0.0033 | 2245 | c.-11 others(2256): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706313 | G | GATAGATA others(2239): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0011 | a0011c0075 | a0011c0075t0001 | a0011c0075t0001g0225 | 1 | 292 | 0.0034 | 2246 | c.228 others(2263): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706313 | G | GATAGATA others(2239): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0017 | a0017c0079 | a0017c0079t0001 | a0017c0079t0001g0224 | 1 | 292 | 0.0034 | 2246 | c.228 others(2263): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706313 | G | GATAGATA others(2239): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0007 | a0007c0082 | a0007c0082t0002 | a0007c0082t0002g0221 | 1 | 292 | 0.0034 | 2246 | c.228 others(2263): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706349 | G | GATAGATA others(2239): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0191 | 1 | 292 | 0.0034 | 2246 | c.228 others(2263): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706349 | G | GATAGATA others(2239): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 292 | 0.0034 | 2246 | c.228 others(2263): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706349 | G | GATAGATA others(2239): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0200 | 1 | 292 | 0.0034 | 2246 | c.228 others(2263): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706313 | G | GATAGATA others(2239): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 | a0017 | a0017c0038 | a0017c0038t0004 | a0017c0038t0004g0207 | 1 | 369 | 0.0027 | 2246 | c.-50 others(2257): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4887 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706313 | G | GATAGATA others(2239): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 | a0017 | a0017c0100 | a0017c0100t0009 | a0017c0100t0009g0208 | 1 | 369 | 0.0027 | 2246 | c.-50 others(2257): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4887 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706313 | G | GATAGATA others(2239): Show |
upstream_gene_variant | MODIFIER | HG02976.hp1 | a0012 | a0012c0037 | a0012c0037t0012 | a0012c0037t0012g0254 | 1 | 369 | 0.0027 | 2246 | c.-50 others(2257): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4887 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2239): Show |
upstream_gene_variant | MODIFIER | NA19070.hp2 | a0008 | a0008c0013 | a0008c0013t0003 | a0008c0013t0003g0177 | 1 | 369 | 0.0027 | 2246 | c.-50 others(2257): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706349 | G | GATAGATA others(2239): Show |
upstream_gene_variant | MODIFIER | NA19065.hp2 | a0014 | a0014c0021 | a0014c0021t0001 | a0014c0021t0001g0181 | 1 | 369 | 0.0027 | 2246 | c.-50 others(2257): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4851 | chr4 | TogoVar | ||||||
FRMPD3_chrX_107444652_107610251 | 107592724 | T | TGCCCCCC others(2239): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0169 | 1 | 183 | 0.0055 | 2246 | c.144 others(2265): Show |
FRMPD3 | ENSG00000147234.11 | transcript | ENST00000683843.1 | protein_coding | 13/14 | chrX | TogoVar | ||||||
FRMPD3_chrX_107444652_107610251 | 107592724 | T | TGCCCCCC others(2239): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0028 | 1 | 183 | 0.0055 | 2246 | c.144 others(2265): Show |
FRMPD3 | ENSG00000147234.11 | transcript | ENST00000683843.1 | protein_coding | 13/14 | chrX | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132241627 | C | CGGGGCCC others(2239): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 183 | 0.0055 | 2246 | c.107 others(2265): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(2239): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0002 | a0002c0003 | a0002c0003t0015 | a0002c0003t0015g0177 | 1 | 276 | 0.0036 | 2246 | c.58- others(2263): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2239): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 375 | 0.0027 | 2246 | c.*44 others(2257): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACGAT others(2239): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 375 | 0.0027 | 2246 | c.*44 others(2257): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | ||||||
TMEM52B_chr12_10174032_10196804 | 10193454 | T | TAAGAAAA others(2239): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0011 | 1 | 430 | 0.0023 | 2246 | c.*33 others(2257): Show |
TMEM52B | ENSG00000165685.9 | transcript | ENST00000543484.2 | protein_coding | 1651 | chr12 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917315 | G | GGAGGCTG others(2239): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0099 | 1 | 344 | 0.0029 | 2246 | c.218 others(2261): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2240): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 334 | 0.0030 | 2247 | c.147 others(2264): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ARRDC5_chr19_4885437_4907896 | 4885658 | C | CACTACTG others(2240): Show |
downstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 412 | 0.0024 | 2247 | c.*53 others(2258): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 4778 | chr19 | TogoVar | ||||||
FRMPD3_chrX_107444652_107610251 | 107592724 | T | TGCCCCCC others(2240): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0160 | 1 | 183 | 0.0055 | 2247 | c.144 others(2266): Show |
FRMPD3 | ENSG00000147234.11 | transcript | ENST00000683843.1 | protein_coding | 13/14 | chrX | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2240): Show |
downstream_gene_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0233 | 1 | 302 | 0.0033 | 2247 | c.*39 others(2258): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2240): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0173 | 1 | 272 | 0.0037 | 2247 | c.-12 others(2268): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TMC6_chr17_78102397_78133755 | 78115744 | G | GGCGAAGG others(2240): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0010 | a0010c0019 | a0010c0019t0002 | a0010c0019t0002g0069 | 1 | 444 | 0.0023 | 2247 | c.227 others(2266): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 18/19 | chr17 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(2241): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0202 | 1 | 298 | 0.0034 | 2248 | c.126 others(2265): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNN3_chr1_154692455_154875281 | 154713957 | C | CATGGTGT others(2241): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 HG01884.hp1 others(4): Show |
a0002a0003a0006others(2): Show | a0002c0002a0003c0007a0006c0013others(2): Show | a0002c0002t0011a0003c0007t0011a0006c0013t0006others(2): Show | a0002c0002t0011g0123a0003c0007t0011g0180a0003c0007t0011g0186others(4): Show | 7 | 238 | 0.0294 | 2248 | c.183 others(2265): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2241): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0053 | a0053c0053 | a0053c0053t0002 | a0053c0053t0002g0186 | 1 | 216 | 0.0046 | 2248 | c.801 others(2265): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2241): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 | 1 | 272 | 0.0037 | 2248 | c.-12 others(2269): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2241): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01192.hp2 HG01255.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0092a0001c0001t0001g0115a0001c0001t0001g0121others(12): Show | 15 | 272 | 0.0552 | 2248 | c.-12 others(2269): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
RIMBP2_chr12_130391133_130721299 | 130646082 | A | ACCACCTC others(2241): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0128 | 1 | 180 | 0.0056 | 2248 | c.-35 others(2269): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | ||||||
VCX2_chrX_8164944_8176267 | 8169109 | C | CCCCACAC others(2241): Show |
downstream_gene_variant | MODIFIER | NA18962.hp1 | a0002 | a0002c0001 | a0002c0001t0013 | a0002c0001t0013g0033 | 1 | 115 | 0.0087 | 2248 | c.*92 others(2257): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 834 | chrX | TogoVar | ||||||
WDR81_chr17_1719704_1743585 | 1741743 | G | GGCCTGAT others(2241): Show |
downstream_gene_variant | MODIFIER | NA19062.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0002 | 1 | 431 | 0.0023 | 2248 | c.*40 others(2259): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 3159 | chr17 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2242): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 334 | 0.0030 | 2249 | c.147 others(2266): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
COL5A1_chr9_134636803_134849843 | 134714467 | G | GTTGTGGA others(2242): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01106.hp2 |
a0001 | a0001c0006a0001c0019 | a0001c0006t0001a0001c0019t0022 | a0001c0006t0001g0108a0001c0019t0022g0231 | 2 | 272 | 0.0074 | 2249 | c.655 others(2268): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 4/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MOCS3_chr20_50953818_50968929 | 50967212 | T | TGCCTCTA others(2242): Show |
downstream_gene_variant | MODIFIER | NA19003.hp2 NA19080.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0000 | 3 | 436 | 0.0069 | 2249 | c.*69 others(2260): Show |
MOCS3 | ENSG00000124217.5 | transcript | ENST00000244051.3 | protein_coding | 3284 | chr20 | TogoVar | ||||||
PLPP2_chr19_276043_296403 | 282449 | C | CGCTCCCC others(2242): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 354 | 0.0028 | 2249 | c.541 others(2264): Show |
PLPP2 | ENSG00000141934.10 | transcript | ENST00000434325.7 | protein_coding | 4/5 | chr19 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2242): Show |
downstream_gene_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 375 | 0.0027 | 2249 | c.*44 others(2260): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2242): Show |
downstream_gene_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0000 | 1 | 375 | 0.0027 | 2249 | c.*44 others(2260): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | ||||||
SEPTIN14_chr7_55788540_55867752 | 55828004 | T | TAAGAAGT others(2242): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0325 | 1 | 390 | 0.0026 | 2249 | c.720 others(2266): Show |
SEPTIN14 | ENSG00000154997.9 | transcript | ENST00000388975.4 | protein_coding | 6/9 | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668987 | C | CCCCCGCC others(2243): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0007 | a0007c0047 | a0007c0047t0004 | a0007c0047t0004g0063 | 1 | 360 | 0.0028 | 2250 | c.170 others(2271): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |