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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(2136): Show |
downstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0239 | 1 | 276 | 0.0036 | 2143 | c.*65 others(2154): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2136): Show |
upstream_gene_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0170 | 1 | 301 | 0.0033 | 2143 | c.-11 others(2154): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133354202 | A | ATGGTGGT others(2136): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0022 | a0001c0001t0017g0052a0001c0001t0022g0014 | 2 | 68 | 0.0294 | 2143 | c.61+ others(2162): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
OTOF_chr2_26452203_26483124 | 26481973 | A | AGGGGGGG others(2136): Show |
upstream_gene_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 330 | 0.0030 | 2143 | c.-41 others(2154): Show |
OTOF | ENSG00000115155.19 | transcript | ENST00000339598.8 | protein_coding | 3850 | chr2 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2136): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 HG01099.hp2 HG01515.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0018a0001c0001t0099others(2): Show | a0001c0001t0007g0246a0001c0001t0007g0258a0001c0001t0018g0244others(3): Show | 6 | 302 | 0.0199 | 2143 | c.*39 others(2154): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8467254 | A | AGGGAGGA others(2136): Show |
downstream_gene_variant | MODIFIER | NA18949.hp1 | a0000 | a0000c0053 | a0000c0053t0015 | a0000c0053t0015g0022 | 1 | 271 | 0.0037 | 2143 | c.*87 others(2152): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 745 | chrX | TogoVar | ||||||
CNTN5_chr11_99015949_100363885 | 99819313 | T | TTCTCCCC others(2137): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0035 | 1 | 66 | 0.0152 | 2144 | c.56- others(2157): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | chr11 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148403073 | A | AAGAAATT others(2137): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0003 | a0003c0007 | a0003c0007t0017 | a0003c0007t0017g0031 | 1 | 40 | 0.0250 | 2144 | c.371 others(2163): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(2137): Show |
intron_variant | MODIFIER | HG01928.hp1 HG01952.hp2 HG02293.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006a0001c0002t0001g0248 | 3 | 298 | 0.0101 | 2144 | c.126 others(2161): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(2137): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0264 | 1 | 298 | 0.0034 | 2144 | c.126 others(2161): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ENTREP2_chr15_29115252_29575979 | 29558678 | C | CCTCCCAC others(2137): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0006 | a0006c0029 | a0006c0029t0029 | a0006c0029t0029g0093 | 1 | 125 | 0.0080 | 2144 | c.219 others(2163): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2137): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189 | 1 | 390 | 0.0026 | 2144 | c.972 others(2157): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2137): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0163 | 1 | 301 | 0.0033 | 2144 | c.-11 others(2155): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120383 | A | GATGGAAA others(2137): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0198 | 1 | 368 | 0.0027 | 2144 | c.353 others(2159): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | chr22 | TogoVar | ||||||
PAK2_chr3_196734857_196837647 | 196811210 | C | CCCTTCCC others(2137): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0102 | 1 | 178 | 0.0056 | 2144 | c.773 others(2159): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2137): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0022 | 1 | 362 | 0.0028 | 2144 | c.-56 others(2163): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2137): Show |
downstream_gene_variant | MODIFIER | NA18955.hp2 NA19011.hp2 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 375 | 0.0080 | 2144 | c.*44 others(2155): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 253742 | C | CGTGACTA others(2137): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0127 | 1 | 133 | 0.0075 | 2144 | c.439 others(2161): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
SNPH_chr20_1261294_1314327 | 1302498 | A | ATTTCTAA others(2137): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01943.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0104a0001c0001t0008g0133 | 2 | 350 | 0.0057 | 2144 | c.440 others(2161): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TUBGCP5_chr15_22994177_23044569 | 23040714 | G | GGAGGTGC others(2137): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0286 | 1 | 351 | 0.0029 | 2144 | c.-11 others(2155): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 1146 | chr15 | TogoVar | ||||||
TUBGCP5_chr15_22994177_23044569 | 23040714 | G | GGAGGTGC others(2137): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0285 | 1 | 351 | 0.0029 | 2144 | c.-11 others(2155): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 1146 | chr15 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294562 | A | AACTCTAG others(2137): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0372 | 1 | 404 | 0.0025 | 2144 | c.340 others(2161): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2138): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 334 | 0.0030 | 2145 | c.147 others(2162): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ASAP1_chr8_130047104_130448674 | 130049764 | T | TGGGGGGC others(2138): Show |
downstream_gene_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0005 | 1 | 308 | 0.0033 | 2145 | c.*49 others(2156): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2339 | chr8 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2138): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0017 | 1 | 104 | 0.0096 | 2145 | c.354 others(2164): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CNTNAP2_chr7_146111801_148425998 | 148403073 | A | AAGAAATT others(2138): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0013 | a0001c0013t0003 | a0001c0013t0003g0039 | 1 | 40 | 0.0250 | 2145 | c.371 others(2164): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
LARP4B_chr10_804497_936705 | 827702 | T | TAAAGAAA others(2138): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 288 | 0.0035 | 2145 | c.112 others(2164): Show |
LARP4B | ENSG00000107929.16 | transcript | ENST00000316157.8 | protein_coding | 11/17 | chr10 | TogoVar | ||||||
NOP10_chr15_34336719_34348136 | 34346633 | G | GCACTTTG others(2138): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 HG01978.hp1 HG01993.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0010a0001c0001t0002g0014 | 26 | 449 | 0.0579 | 2145 | c.-35 others(2156): Show |
NOP10 | ENSG00000182117.7 | transcript | ENST00000328848.6 | protein_coding | 3498 | chr15 | TogoVar | ||||||
NUTM1_chr15_34338315_34362735 | 34346633 | G | GCACTTTG others(2138): Show |
intron_variant | MODIFIER | HG01496.hp2 HG01978.hp1 HG01993.hp1 others(22): Show |
a0003a0007a0028others(3): Show | a0003c0003a0007c0008a0028c0036others(3): Show | a0003c0003t0002a0007c0008t0002a0028c0036t0002others(3): Show | a0003c0003t0002g0012a0003c0003t0002g0025a0003c0003t0002g0027others(18): Show | 25 | 454 | 0.0551 | 2145 | c.100 others(2160): Show |
NUTM1 | ENSG00000184507.17 | transcript | ENST00000537011.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
RPEL1_chr10_103240887_103253016 | 103251122 | C | CCACCACC others(2138): Show |
downstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 375 | 0.0027 | 2145 | c.*44 others(2156): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3107 | chr10 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(2138): Show |
upstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 186 | 0.0054 | 2145 | c.-50 others(2156): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | ||||||
THAP4_chr2_241579405_241642158 | 241590992 | T | TTGGCTGA others(2138): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0068 | 1 | 390 | 0.0026 | 2145 | c.161 others(2164): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585330 | A | AGGAGGGG others(2139): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0220 | 1 | 354 | 0.0028 | 2146 | c.-22 others(2163): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CNTNAP2_chr7_146111801_148425998 | 148403073 | A | AAGAAATT others(2139): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0017 | a0002c0017t0015 | a0002c0017t0015g0037 | 1 | 40 | 0.0250 | 2146 | c.371 others(2165): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DPEP1_chr16_89608642_89643433 | 89634987 | T | TCCTTTCC others(2139): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0028 | 1 | 250 | 0.0040 | 2146 | c.105 others(2161): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGGT others(2139): Show |
intron_variant | MODIFIER | HG02922.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 2 | 390 | 0.0051 | 2146 | c.972 others(2159): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2139): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 | 1 | 390 | 0.0026 | 2146 | c.972 others(2159): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2139): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0123 | 1 | 292 | 0.0034 | 2146 | c.218 others(2161): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
NOP10_chr15_34336719_34348136 | 34346633 | G | GCACTTTG others(2139): Show |
upstream_gene_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 449 | 0.0022 | 2146 | c.-35 others(2157): Show |
NOP10 | ENSG00000182117.7 | transcript | ENST00000328848.6 | protein_coding | 3498 | chr15 | TogoVar | ||||||
NUTM1_chr15_34338315_34362735 | 34346633 | G | GCACTTTG others(2139): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0066 | 1 | 454 | 0.0022 | 2146 | c.100 others(2161): Show |
NUTM1 | ENSG00000184507.17 | transcript | ENST00000537011.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGGAC others(2139): Show |
downstream_gene_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0250 | 1 | 302 | 0.0033 | 2146 | c.*39 others(2157): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2139): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0290 | 1 | 362 | 0.0028 | 2146 | c.-56 others(2165): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CNTN5_chr11_99015949_100363885 | 99819313 | T | TTCTCCCC others(2140): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0006 | a0006c0006 | a0006c0006t0011 | a0006c0006t0011g0033 | 1 | 66 | 0.0152 | 2147 | c.56- others(2160): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | chr11 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323291 | T | TATATATA others(2140): Show |
upstream_gene_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 323 | 0.0031 | 2147 | c.-17 others(2158): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1678 | chr21 | TogoVar | ||||||
MTMR12_chr5_32222007_32317939 | 32283363 | T | TAATAACA others(2140): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0004 | a0004c0005 | a0004c0005t0023 | a0004c0005t0023g0007 | 1 | 364 | 0.0028 | 2147 | c.82- others(2162): Show |
MTMR12 | ENSG00000150712.11 | transcript | ENST00000382142.8 | protein_coding | 1/15 | chr5 | TogoVar | ||||||
NUTM1_chr15_34338315_34362735 | 34346610 | G | GGTGGCTC others(2140): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 454 | 0.0022 | 2147 | c.100 others(2162): Show |
NUTM1 | ENSG00000184507.17 | transcript | ENST00000537011.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2140): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02647.hp2 HG03195.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0045a0001c0001t0049 | a0001c0001t0011g0262a0001c0001t0011g0264a0001c0001t0045g0267others(1): Show | 4 | 362 | 0.0111 | 2147 | c.-56 others(2166): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 42994294 | A | AGCCTCCC others(2140): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0263 | 1 | 362 | 0.0028 | 2147 | c.-56 others(2166): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ATP10A_chr15_25673712_25868327 | 25758152 | T | TCACCTGC others(2141): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 300 | 0.0033 | 2148 | c.655 others(2167): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(2141): Show |
downstream_gene_variant | MODIFIER | NA19030.hp2 | a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0086 | 1 | 276 | 0.0036 | 2148 | c.*52 others(2159): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar |