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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TBCB_chr19_36110468_36130941 | 36126419 | C | CAAAAAAA others(2112): Show |
downstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 448 | 0.0022 | 2119 | c.*63 others(2128): Show |
TBCB | ENSG00000105254.12 | transcript | ENST00000221855.8 | protein_coding | 479 | chr19 | TogoVar | ||||||
TBCB_chr19_36110468_36130941 | 36126419 | C | CAAAAAAA others(2112): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0076 | 2 | 448 | 0.0045 | 2119 | c.*63 others(2128): Show |
TBCB | ENSG00000105254.12 | transcript | ENST00000221855.8 | protein_coding | 479 | chr19 | TogoVar | ||||||
TBCB_chr19_36110468_36130941 | 36126419 | C | CAAAAAAA others(2112): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 448 | 0.0022 | 2119 | c.*63 others(2128): Show |
TBCB | ENSG00000105254.12 | transcript | ENST00000221855.8 | protein_coding | 479 | chr19 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2113): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0010 | a0010c0069 | a0010c0069t0005 | a0010c0069t0005g0001 | 1 | 104 | 0.0096 | 2120 | c.354 others(2139): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 650650 | T | TGTGACTG others(2113): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 91 | 0.0110 | 2120 | c.177 others(2139): 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(2113): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 91 | 0.0110 | 2120 | c.177 others(2139): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CRLF2_chrX_1185490_1217649 | 1198155 | C | TGAAGGCA others(2113): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0111 | 1 | 167 | 0.0060 | 2120 | c.646 others(2132): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 5/7 | chrX | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(2113): Show |
downstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 345 | 0.0029 | 2120 | c.*17 others(2131): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | ||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2113): Show |
downstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 421 | 0.0024 | 2120 | c.*22 others(2131): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | ||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(2113): Show |
downstream_gene_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 421 | 0.0024 | 2120 | c.*22 others(2131): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2113): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0069 | 1 | 390 | 0.0026 | 2120 | c.972 others(2133): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(2113): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 158 | 0.0063 | 2120 | c.*11 others(2141): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | ||||||
NXN_chr17_794310_984776 | 952763 | A | AGTCAGAG others(2113): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0018 | 1 | 242 | 0.0041 | 2120 | c.360 others(2139): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 101922 | C | CCTGGAAA others(2113): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0040 | a0040c0063 | a0040c0063t0063 | a0040c0063t0063g0189 | 1 | 210 | 0.0048 | 2120 | c.45+ others(2135): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2113): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG01515.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0000a0001c0001t0006g0000 | 2 | 375 | 0.0053 | 2120 | c.*44 others(2131): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2113): Show |
downstream_gene_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0000 | 1 | 375 | 0.0027 | 2120 | c.*44 others(2131): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | ||||||
WDR49_chr3_167473684_167658942 | 167547408 | T | TAGAAAAA others(2113): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 210 | 0.0048 | 2120 | c.182 others(2139): Show |
WDR49 | ENSG00000174776.12 | transcript | ENST00000682715.1 | protein_coding | 10/18 | chr3 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2114): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0007 | a0007c0008 | a0007c0008t0024 | a0007c0008t0024g0056 | 1 | 218 | 0.0046 | 2121 | c.108 others(2138): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469984 | A | AGGGGAGG others(2114): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0033 | a0033c0035 | a0033c0035t0002 | a0033c0035t0002g0066 | 1 | 104 | 0.0096 | 2121 | c.354 others(2140): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 650720 | G | GGACTGTG others(2114): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 91 | 0.0110 | 2121 | c.177 others(2140): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(2114): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0003 | a0003c0003 | a0003c0003t0009 | a0003c0003t0009g0032 | 1 | 276 | 0.0036 | 2121 | c.*52 others(2132): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2114): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01106.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0037 | a0001c0001t0012g0144a0001c0001t0012g0161a0001c0001t0012g0170others(3): Show | 6 | 302 | 0.0199 | 2121 | c.*39 others(2132): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2114): Show |
downstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0193 | 1 | 302 | 0.0033 | 2121 | c.*39 others(2132): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2114): Show |
downstream_gene_variant | MODIFIER | HG02129.hp1 NA19004.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217a0001c0001t0001g0253a0001c0001t0001g0255 | 3 | 302 | 0.0099 | 2121 | c.*39 others(2132): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2114): Show |
downstream_gene_variant | MODIFIER | HG03704.hp2 NA18747.hp1 NA18950.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0007 | a0001c0001t0001g0231a0001c0001t0001g0254a0001c0001t0001g0268others(3): Show | 6 | 302 | 0.0199 | 2121 | c.*39 others(2132): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2114): Show |
downstream_gene_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0243 | 1 | 302 | 0.0033 | 2121 | c.*39 others(2132): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494663 | G | GAGGGGAC others(2114): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0239 | 1 | 302 | 0.0033 | 2121 | c.*39 others(2132): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2594 | chr7 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50397972 | C | CGGGGGGG others(2114): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0019 | a0019c0028 | a0019c0028t0002 | a0019c0028t0002g0193 | 1 | 340 | 0.0029 | 2121 | c.227 others(2138): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | chr22 | TogoVar | ||||||
TBCB_chr19_36110468_36130941 | 36126419 | C | CAAAAAAA others(2114): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 448 | 0.0022 | 2121 | c.*63 others(2130): Show |
TBCB | ENSG00000105254.12 | transcript | ENST00000221855.8 | protein_coding | 479 | chr19 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2115): Show |
intron_variant | MODIFIER | NA19066.hp1 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049a0001c0001t0001g0077 | 2 | 104 | 0.0192 | 2122 | c.354 others(2141): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 650650 | T | TGTGACTG others(2115): Show |
intron_variant | MODIFIER | NA18963.hp1 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0032 | 2 | 91 | 0.0220 | 2122 | c.177 others(2141): 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(2115): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 91 | 0.0110 | 2122 | c.177 others(2141): 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(2115): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01070.hp2 HG01175.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0031a0001c0001t0001g0033others(11): Show | 14 | 91 | 0.1539 | 2122 | c.177 others(2141): 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(2115): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 91 | 0.0110 | 2122 | c.177 others(2141): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(2115): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 116 | 0.0086 | 2122 | c.-52 others(2143): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2115): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 316 | 0.0032 | 2122 | c.44- others(2135): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(2115): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0165 | 1 | 298 | 0.0034 | 2122 | c.126 others(2139): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
FMN2_chr1_240086883_240480187 | 240185174 | T | TTCCCCTT others(2115): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0111 | 1 | 174 | 0.0058 | 2122 | c.193 others(2141): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LUC7L_chr16_183990_234449 | 186101 | G | GGGAGGAA others(2115): Show |
downstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 350 | 0.0029 | 2122 | c.*30 others(2133): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2888 | chr16 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2115): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0249 | 1 | 302 | 0.0033 | 2122 | c.*39 others(2133): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2115): Show |
downstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 302 | 0.0033 | 2122 | c.*39 others(2133): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATTTA others(2115): Show |
upstream_gene_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003 | 1 | 432 | 0.0023 | 2122 | c.-20 others(2133): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATTTATA others(2115): Show |
upstream_gene_variant | MODIFIER | HG01943.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0003 | 1 | 432 | 0.0023 | 2122 | c.-20 others(2133): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2115): Show |
downstream_gene_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 375 | 0.0027 | 2122 | c.*44 others(2133): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2115): Show |
downstream_gene_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 375 | 0.0027 | 2122 | c.*44 others(2133): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | ||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(2115): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0043 | 1 | 228 | 0.0044 | 2122 | c.127 others(2139): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(2115): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 228 | 0.0044 | 2122 | c.127 others(2139): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2116): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 334 | 0.0030 | 2123 | c.147 others(2140): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2116): Show |
intron_variant | MODIFIER | NA18998.hp2 NA19082.hp1 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0001 | a0001c0003t0001g0095a0002c0002t0001g0149 | 2 | 160 | 0.0125 | 2123 | c.742 others(2140): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar | ||||||
MCC_chr5_113017106_113493453 | 113146295 | G | GAACAAGA others(2116): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG00639.hp2 others(38): Show |
a0001a0002a0003others(5): Show | a0001c0003a0001c0004a0001c0022others(14): Show | a0001c0003t0001a0001c0003t0012a0001c0003t0019others(20): Show | a0001c0003t0001g0083a0001c0003t0001g0099a0001c0003t0012g0097others(38): Show | 41 | 160 | 0.2563 | 2123 | c.742 others(2140): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 4/18 | chr5 | TogoVar |