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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2099): Show |
downstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 375 | 0.0027 | 2106 | c.*44 others(2117): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80930448 | T | TCAGCTCA others(2099): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0004 | a0001c0004t0014 | a0001c0004t0014g0081 | 1 | 196 | 0.0051 | 2106 | c.291 others(2125): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 24/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80930448 | T | TCAGCTCA others(2099): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0004 | a0001c0004t0035 | a0001c0004t0035g0004 | 1 | 196 | 0.0051 | 2106 | c.291 others(2125): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 24/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80930448 | T | TCAGCTCA others(2099): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00621.hp1 others(22): Show |
a0001a0002a0005 | a0001c0003a0001c0004a0001c0006others(15): Show | a0001c0003t0014a0001c0004t0001a0001c0004t0014others(20): Show | a0001c0003t0014g0102a0001c0004t0001g0152a0001c0004t0014g0098others(22): Show | 25 | 196 | 0.1276 | 2106 | c.291 others(2125): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 24/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80930448 | T | TCAGCTCA others(2099): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0025 | a0001c0025t0052 | a0001c0025t0052g0181 | 1 | 196 | 0.0051 | 2106 | c.291 others(2125): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 24/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
THAP4_chr2_241579405_241642158 | 241590982 | T | TCAGAGCT others(2099): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00673.hp1 NA18943.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0292a0001c0002t0001g0293a0001c0002t0001g0304 | 3 | 390 | 0.0077 | 2106 | c.161 others(2125): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136802884 | C | CCCAAGGC others(2100): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0081 | 1 | 398 | 0.0025 | 2107 | c.666 others(2122): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FOXK2_chr17_82514732_82609602 | 82586503 | G | GGGGGAAA others(2100): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 308 | 0.0033 | 2107 | c.157 others(2124): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GALNT9_chr12_132191372_132334589 | 132241927 | A | ACCACACC others(2100): Show |
intron_variant | MODIFIER | HG01070.hp1 HG03017.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083a0001c0001t0001g0122 | 2 | 183 | 0.0109 | 2107 | c.107 others(2126): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132241927 | A | ACCACACC others(2100): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 183 | 0.0055 | 2107 | c.107 others(2126): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2100): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0002 | 1 | 425 | 0.0024 | 2107 | c.*68 others(2118): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323291 | T | TATATATA others(2100): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 323 | 0.0031 | 2107 | c.-17 others(2118): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1678 | chr21 | TogoVar | ||||||
LGR6_chr1_202188799_202324761 | 202205410 | C | CCAGCACA others(2100): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0209 | 1 | 262 | 0.0038 | 2107 | c.212 others(2126): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LGR6_chr1_202188799_202324761 | 202205410 | C | CCAGCACA others(2100): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 262 | 0.0038 | 2107 | c.212 others(2126): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LGR6_chr1_202188799_202324761 | 202205412 | A | AGCACACA others(2100): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0030 | a0001c0030t0001 | a0001c0030t0001g0228 | 1 | 262 | 0.0038 | 2107 | c.212 others(2126): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | chr1 | TogoVar | ||||||
LGR6_chr1_202188799_202324761 | 202205412 | A | AGCACACA others(2100): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 262 | 0.0038 | 2107 | c.212 others(2126): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | chr1 | TogoVar | ||||||
LGR6_chr1_202188799_202324761 | 202205412 | A | AGCACACA others(2100): Show |
intron_variant | MODIFIER | HG01981.hp2 HG06807.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0193a0002c0002t0002g0177 | 2 | 262 | 0.0076 | 2107 | c.212 others(2126): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | chr1 | TogoVar | ||||||
LGR6_chr1_202188799_202324761 | 202205412 | A | AGCACACA others(2100): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0256 | 1 | 262 | 0.0038 | 2107 | c.212 others(2126): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | chr1 | TogoVar | ||||||
LGR6_chr1_202188799_202324761 | 202205412 | A | AGCACACA others(2100): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0257 | 1 | 262 | 0.0038 | 2107 | c.212 others(2126): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | chr1 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507284 | G | GGGTAGGG others(2100): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0079 | 1 | 260 | 0.0039 | 2107 | c.624 others(2124): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
TUBGCP5_chr15_22994177_23044569 | 23040714 | G | GGAGGTGC others(2100): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 HG02896.hp2 HG02897.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007a0001c0001t0003g0030a0001c0001t0003g0275others(2): Show | 6 | 351 | 0.0171 | 2107 | c.-11 others(2118): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 1146 | chr15 | TogoVar | ||||||
CCDC88C_chr14_91266323_91422820 | 91293493 | T | TCCTCACC others(2101): Show |
intron_variant | MODIFIER | HG03669.hp2 NA20905.hp1 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0090a0002c0005t0001g0016 | 2 | 284 | 0.0070 | 2108 | c.411 others(2125): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 650650 | T | TGTGACTG others(2101): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 91 | 0.0110 | 2108 | c.177 others(2127): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CEP72_chr5_607340_658553 | 650650 | T | TGTGACTG others(2101): Show |
intron_variant | MODIFIER | HG02129.hp1 NA18942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035a0001c0001t0001g0036 | 2 | 91 | 0.0220 | 2108 | c.177 others(2127): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(2101): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0245 | 1 | 298 | 0.0034 | 2108 | c.126 others(2125): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
GALNT9_chr12_132191372_132334589 | 132241973 | A | ACACACCC others(2101): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 183 | 0.0055 | 2108 | c.107 others(2127): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(2101): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0003 | a0003c0018 | a0003c0018t0002 | a0003c0018t0002g0117 | 1 | 158 | 0.0063 | 2108 | c.*11 others(2129): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | ||||||
LGR6_chr1_202188799_202324761 | 202205410 | C | CCAGCACA others(2101): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0210 | 1 | 262 | 0.0038 | 2108 | c.212 others(2127): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
TUBGCP5_chr15_22994177_23044569 | 23040714 | G | GGAGGTGC others(2101): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0274 | 1 | 351 | 0.0029 | 2108 | c.-11 others(2119): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 1146 | chr15 | TogoVar | ||||||
TUBGCP5_chr15_22994177_23044569 | 23040714 | G | GGAGGTGC others(2101): Show |
upstream_gene_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 | 1 | 351 | 0.0029 | 2108 | c.-11 others(2119): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 1146 | chr15 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(2101): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 356 | 0.0028 | 2108 | c.114 others(2125): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(2101): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 356 | 0.0028 | 2108 | c.114 others(2125): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477317 | A | ACCCACCC others(2102): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0041 | 1 | 334 | 0.0030 | 2109 | c.147 others(2126): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C2CD4C_chr19_400445_414147 | 411286 | G | GGGGATCT others(2102): Show |
upstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0019 | 1 | 322 | 0.0031 | 2109 | c.-23 others(2120): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2140 | chr19 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 650650 | T | TGTGACTG others(2102): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 91 | 0.0110 | 2109 | c.177 others(2128): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CEP72_chr5_607340_658553 | 650650 | T | TGTGACTG others(2102): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 91 | 0.0110 | 2109 | c.177 others(2128): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CEP72_chr5_607340_658553 | 650650 | T | TGTGACTG others(2102): Show |
intron_variant | MODIFIER | HG00741.hp2 NA19065.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060a0001c0001t0001g0062a0001c0001t0001g0089 | 3 | 91 | 0.0330 | 2109 | c.177 others(2128): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CEP72_chr5_607340_658553 | 650650 | T | TGTGACTG others(2102): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01433.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057a0001c0001t0001g0058 | 2 | 91 | 0.0220 | 2109 | c.177 others(2128): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DCDC2C_chr2_3698575_3853008 | 3725575 | C | CGAGCAGA others(2102): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0284 | 1 | 324 | 0.0031 | 2109 | c.340 others(2126): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
EHMT1_chr9_137614005_137841127 | 137716132 | T | TTGGTGTC others(2102): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0156 | 1 | 170 | 0.0059 | 2109 | c.86- others(2122): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2102): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0227 | 1 | 390 | 0.0026 | 2109 | c.972 others(2122): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132173086 | T | TCTCTCTC others(2102): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0015 | a0001c0015t0002 | a0001c0015t0002g0018 | 1 | 158 | 0.0063 | 2109 | c.*11 others(2130): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LGR6_chr1_202188799_202324761 | 202205410 | C | CCAGCACA others(2102): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG02148.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134a0001c0001t0001g0135a0001c0001t0001g0136others(1): Show | 4 | 262 | 0.0153 | 2109 | c.212 others(2128): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LGR6_chr1_202188799_202324761 | 202205410 | C | CCAGCACA others(2102): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0168 | 1 | 262 | 0.0038 | 2109 | c.212 others(2128): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LGR6_chr1_202188799_202324761 | 202205412 | A | AGCACACA others(2102): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00733.hp1 HG01071.hp2 others(11): Show |
a0001a0002a0011others(1): Show | a0001c0001a0002c0002a0011c0018others(1): Show | a0001c0001t0001a0002c0002t0002a0011c0018t0002others(1): Show | a0001c0001t0001g0186a0001c0001t0001g0191a0001c0001t0001g0220others(11): Show | 14 | 262 | 0.0534 | 2109 | c.212 others(2128): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | chr1 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77290647 | C | CCAGACAT others(2102): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0085 | 1 | 160 | 0.0063 | 2109 | c.389 others(2130): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | chr3 | TogoVar | ||||||
TAB2_chr6_149312712_149416607 | 149380857 | T | TTTGCCTT others(2102): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0321 | 1 | 366 | 0.0027 | 2109 | c.160 others(2128): Show |
TAB2 | ENSG00000055208.20 | transcript | ENST00000637181.2 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2103): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 334 | 0.0030 | 2110 | c.147 others(2127): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2103): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0008 | a0008c0033 | a0008c0033t0002 | a0008c0033t0002g0050 | 1 | 104 | 0.0096 | 2110 | c.354 others(2129): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
DCAF8L2_chrX_27585344_27754942 | 27706887 | C | CATCAACT others(2103): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0063 | 1 | 262 | 0.0038 | 2110 | c.-14 others(2129): Show |
DCAF8L2 | ENSG00000189186.11 | transcript | ENST00000451261.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar |