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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TLCD5_chr11_120320299_120338686 | 120328682 | T | TGTGTGTG others(936): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0124 | 1 | 432 | 0.0023 | 943 | c.199 others(960): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328684 | T | TGTGTGTG others(936): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 432 | 0.0023 | 943 | c.199 others(960): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328762 | T | TTGTGTGT others(936): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 432 | 0.0023 | 943 | c.199 others(960): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(936): Show |
intron_variant | MODIFIER | HG01358.hp2 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 2 | 432 | 0.0046 | 943 | c.199 others(960): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(936): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0219 | 1 | 432 | 0.0023 | 943 | c.199 others(960): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(936): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01106.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051a0001c0001t0002g0253 | 3 | 432 | 0.0069 | 943 | c.199 others(960): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TMEM132B_chr12_125181386_125667369 | 125612896 | A | ATAAAAAT others(936): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0001 | a0002c0001t0037 | a0002c0001t0037g0093 | 1 | 128 | 0.0078 | 943 | c.143 others(964): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM132D_chr12_129066726_129909025 | 129828738 | A | AGGAGGGA others(936): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02965.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0009 | a0001c0001t0001g0015a0002c0003t0009g0017 | 2 | 94 | 0.0213 | 943 | c.79+ others(960): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(936): Show |
downstream_gene_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0143 | 1 | 202 | 0.0050 | 943 | c.*53 others(954): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | ||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(936): Show |
downstream_gene_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0004 | a0001c0004t0020 | a0001c0004t0020g0032 | 1 | 202 | 0.0050 | 943 | c.*53 others(954): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | ||||||
VCX3A_chrX_6528618_6540118 | 6533242 | A | ACACCTCC others(936): Show |
downstream_gene_variant | MODIFIER | NA19240.hp1 | a0018 | a0018c0027 | a0018c0027t0001 | a0018c0027t0001g0019 | 1 | 74 | 0.0135 | 943 | c.*50 others(952): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 375 | chrX | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975298 | T | TAGATAAA others(937): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0119 | 1 | 306 | 0.0033 | 944 | c.130 others(963): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975298 | T | TAGATAAA others(937): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 306 | 0.0033 | 944 | c.130 others(963): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975298 | T | TAGATAAA others(937): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0069 | 1 | 306 | 0.0033 | 944 | c.130 others(963): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | ACACCCAC others(937): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0007 | a0007c0069 | a0007c0069t0009 | a0007c0069t0009g0043 | 1 | 248 | 0.0040 | 944 | c.387 others(963): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | AGACCCAT others(937): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0179 | 1 | 248 | 0.0040 | 944 | c.387 others(963): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
ADAMTS17_chr15_99966437_100346975 | 100162448 | T | TGTATATA others(937): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0010 | a0001c0010t0009 | a0001c0010t0009g0022 | 1 | 228 | 0.0044 | 944 | c.118 others(963): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 8/21 | chr15 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9406423 | T | TTGTCACT others(937): Show |
downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0153 | 1 | 210 | 0.0048 | 944 | c.*30 others(955): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 746 | chr2 | TogoVar | ||||||
BANP_chr16_87946434_88082316 | 87989592 | T | TGATGGGG others(937): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0124 | 1 | 352 | 0.0028 | 944 | c.362 others(961): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
C4orf17_chr4_99506021_99547303 | 99523062 | T | TGAAATTG others(937): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0325 | 1 | 386 | 0.0026 | 944 | c.337 others(959): Show |
C4orf17 | ENSG00000138813.10 | transcript | ENST00000326581.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CCDC183_chr9_136791338_136812741 | 136803012 | G | GGGGGCCC others(937): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0234 | 1 | 398 | 0.0025 | 944 | c.666 others(959): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CCDC183_chr9_136791338_136812741 | 136803012 | G | GGGGGCCC others(937): Show |
intron_variant | MODIFIER | NA18995.hp2 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189a0001c0001t0002g0241 | 2 | 398 | 0.0050 | 944 | c.666 others(959): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CCDC183_chr9_136791338_136812741 | 136803146 | C | CCGGGGGC others(937): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0090 | 1 | 398 | 0.0025 | 944 | c.666 others(959): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | chr9 | TogoVar | ||||||
CCDC183_chr9_136791338_136812741 | 136803215 | G | GGGGCCCC others(937): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 398 | 0.0025 | 944 | c.666 others(959): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CCDC183_chr9_136791338_136812741 | 136803282 | T | TGGGGGCC others(937): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 398 | 0.0025 | 944 | c.666 others(959): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(937): Show |
downstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 418 | 0.0024 | 944 | c.*51 others(955): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | ||||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(937): Show |
downstream_gene_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 418 | 0.0024 | 944 | c.*51 others(955): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | ||||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(937): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG02165.hp2 HG02809.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0008a0001c0001t0001g0157a0001c0001t0001g0181others(3): Show | 6 | 418 | 0.0144 | 944 | c.*51 others(955): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | ||||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(937): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 HG03209.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0155a0001c0001t0003g0262a0001c0001t0003g0296 | 3 | 418 | 0.0072 | 944 | c.*51 others(955): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(937): Show |
upstream_gene_variant | MODIFIER | NA18989.hp1 | a0003 | a0003c0017 | a0003c0017t0001 | a0003c0017t0001g0205 | 1 | 334 | 0.0030 | 944 | c.-25 others(955): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(937): Show |
upstream_gene_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 334 | 0.0030 | 944 | c.-25 others(955): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11284432 | T | TGGATGAG others(937): Show |
intron_variant | MODIFIER | HG03225.hp1 NA18522.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0014a0001c0003t0005 | a0001c0002t0014g0037a0001c0003t0005g0064 | 2 | 194 | 0.0103 | 944 | c.842 others(961): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COMMD9_chr11_36267292_36294424 | 36287120 | T | TACAATGT others(937): Show |
intron_variant | MODIFIER | NA18943.hp2 NA18953.hp1 NA19067.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057a0001c0001t0001g0252 | 3 | 448 | 0.0067 | 944 | c.51+ others(959): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(937): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 230 | 0.0044 | 944 | c.724 others(963): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(937): Show |
downstream_gene_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0341 | 1 | 345 | 0.0029 | 944 | c.*17 others(955): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 556189 | A | AGCACCCA others(937): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0015 | a0001c0015t0002 | a0001c0015t0002g0083 | 1 | 88 | 0.0114 | 944 | c.86- others(961): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137329823 | G | GGGGCTAC others(937): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0029 | a0029c0036 | a0029c0036t0001 | a0029c0036t0001g0003 | 1 | 82 | 0.0122 | 944 | c.199 others(963): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137355462 | A | AAAGGAGG others(937): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0062 | 1 | 82 | 0.0122 | 944 | c.758 others(959): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(937): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0246 | 1 | 323 | 0.0031 | 944 | c.-36 others(955): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322586 | T | TGGAATAT others(937): Show |
upstream_gene_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0215 | 1 | 323 | 0.0031 | 944 | c.-24 others(955): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2383 | chr21 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9406303 | G | GTGTGTGT others(937): Show |
3_prime_UTR_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0170 | a0001c0001t0170g0131 | 1 | 276 | 0.0036 | 944 | c.*53 others(953): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 530 | chr2 | TogoVar | |||||
ITGB1BP1_chr2_9398475_9428528 | 9406423 | T | TTGTCACT others(937): Show |
3_prime_UTR_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0230 | a0001c0001t0230g0210 | 1 | 276 | 0.0036 | 944 | c.*41 others(953): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 410 | chr2 | TogoVar | |||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(937): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0082 | 1 | 114 | 0.0088 | 944 | c.56- others(961): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATA others(937): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0248 | 1 | 284 | 0.0035 | 944 | c.126 others(961): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364365 | G | GCTTACAC others(937): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0251 | 1 | 290 | 0.0035 | 944 | c.129 others(963): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(937): Show |
upstream_gene_variant | MODIFIER | HG02273.hp2 NA19056.hp2 |
a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0052a0001c0004t0007g0053 | 2 | 318 | 0.0063 | 944 | c.-49 others(955): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926744 | G | GGAAGGAG others(937): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 272 | 0.0037 | 944 | c.250 others(959): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
NRIP1_chr21_14956235_15070000 | 15031103 | C | CACATTCC others(937): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02572.hp2 HG02976.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189a0001c0001t0001g0190a0001c0001t0001g0191others(3): Show | 6 | 398 | 0.0151 | 944 | c.-45 others(965): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 2/3 | chr21 | TogoVar | ||||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(937): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0084 | a0001c0001t0084g0033 | 1 | 326 | 0.0031 | 944 | c.433 others(961): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(937): Show |
downstream_gene_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 456 | 0.0022 | 944 | c.*31 others(955): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar |