view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANP32E_chr1_150213417_150241112 | 150227793 | T | TCAAATTT others(276): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0157 | 1 | 370 | 0.0027 | 283 | c.494 others(298): Show |
ANP32E | ENSG00000143401.15 | transcript | ENST00000583931.6 | protein_coding | 4/6 | chr1 | TogoVar | |||||||
ANXA2R_chr5_43034371_43045319 | 43043807 | A | ATATATTA others(276): Show |
upstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 296 | 0.0034 | 283 | c.-37 others(294): Show |
ANXA2R | ENSG00000177721.5 | transcript | ENST00000616064.2 | protein_coding | 3489 | chr5 | TogoVar | |||||||
ANXA2R_chr5_43034371_43045319 | 43043918 | A | ATATAATA others(276): Show |
upstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 296 | 0.0034 | 283 | c.-38 others(294): Show |
ANXA2R | ENSG00000177721.5 | transcript | ENST00000616064.2 | protein_coding | 3600 | chr5 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687049 | C | CCCCGTGA others(276): Show |
upstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 246 | 0.0041 | 283 | c.-14 others(294): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1204 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687138 | G | GGCGGTGA others(276): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0158 | 1 | 246 | 0.0041 | 283 | c.-15 others(294): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1293 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687215 | C | CGAGCACT others(276): Show |
upstream_gene_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0114 | 1 | 246 | 0.0041 | 283 | c.-16 others(294): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1370 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687355 | G | GGTGAGCA others(276): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 HG01952.hp1 |
a0001 | a0001c0005a0001c0010 | a0001c0005t0001a0001c0010t0001 | a0001c0005t0001g0010 a0001c0010t0001g0009 |
2 | 246 | 0.0081 | 283 | c.-17 others(294): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1510 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687637 | G | GGTGAGCA others(276): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 246 | 0.0041 | 283 | c.-20 others(294): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1792 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687687 | A | ACCCCCGT others(276): Show |
upstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 246 | 0.0041 | 283 | c.-20 others(294): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1842 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687687 | A | ACCCCCGT others(276): Show |
upstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0214 | 1 | 246 | 0.0041 | 283 | c.-20 others(294): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1842 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687708 | G | GGTGAGCA others(276): Show |
upstream_gene_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0109 | 1 | 246 | 0.0041 | 283 | c.-21 others(294): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1863 | chr8 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1824808 | T | TCCCCCGC others(276): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03098.hp1 HG03540.hp1 |
a0001 | a0001c0020a0001c0026a0001c0159 | a0001c0020t0016a0001c0026t0007a0001c0159t0006 | a0001c0020t0016g0092 a0001c0026t0007g0091 a0001c0159t0006g0093 |
3 | 363 | 0.0083 | 283 | c.-48 others(298): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | chr8 | TogoVar | |||||||
ASPG_chr14_104080700_104120582 | 104085483 | A | ACCCCGCC others(276): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 HG02895.hp1 |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0095 a0003c0004t0003g0096 |
2 | 368 | 0.0054 | 283 | c.-28 others(292): Show |
ASPG | ENSG00000166183.16 | transcript | ENST00000551177.6 | protein_coding | 216 | chr14 | TogoVar | |||||||
ATG10_chr5_81967023_82261133 | 81993359 | C | CTTTCTTT others(276): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0003 | a0003c0003 | a0003c0003t0012 | a0003c0003t0012g0193 | 1 | 226 | 0.0044 | 283 | c.108 others(300): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 2/7 | chr5 | TogoVar | |||||||
ATP10B_chr5_160558120_160857211 | 160653993 | T | TTGTATAT others(276): Show |
intron_variant | MODIFIER | HG02922.hp2 HG02965.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0182 |
3 | 236 | 0.0127 | 283 | c.676 others(300): Show |
ATP10B | ENSG00000118322.14 | transcript | ENST00000327245.10 | protein_coding | 7/25 | chr5 | TogoVar | |||||||
ATP11A_chr13_112685038_112892168 | 112723285 | T | TCCCCACC others(276): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0014 | a0001c0014t0043 | a0001c0014t0043g0056 | 1 | 254 | 0.0039 | 283 | c.39+ others(300): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112723285 | T | TCCCCACC others(276): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0002 | a0001c0002t0070 | a0001c0002t0070g0199 | 1 | 254 | 0.0039 | 283 | c.39+ others(300): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112845332 | T | TCGGTACT others(276): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03225.hp1 HG03579.hp1 |
a0001 | a0001c0019a0001c0043a0001c0047 | a0001c0019t0008a0001c0043t0044a0001c0047t0016 | a0001c0019t0008g0051 a0001c0043t0044g0148 a0001c0047t0016g0062 |
3 | 254 | 0.0118 | 283 | c.180 others(302): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCGTGCA others(276): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 391 | 0.0026 | 283 | c.*36 others(294): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835508 | G | GTCCAGGC others(276): Show |
downstream_gene_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006 | 1 | 391 | 0.0026 | 283 | c.*36 others(294): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3491 | chr19 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83023224 | G | GCCCACCT others(276): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0256 | 1 | 266 | 0.0038 | 283 | c.298 others(300): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83023271 | C | CCCCACCT others(276): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0065 | 1 | 266 | 0.0038 | 283 | c.298 others(300): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83023271 | C | CCCCACCT others(276): Show |
intron_variant | MODIFIER | HG03516.hp2 NA18965.hp1 |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0039a0002c0009t0013 | a0001c0001t0039g0260 a0002c0009t0013g0066 |
2 | 266 | 0.0075 | 283 | c.298 others(300): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83023271 | C | CCCCACCT others(276): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0254 | 1 | 266 | 0.0038 | 283 | c.298 others(300): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98400363 | G | GGGAGGGA others(276): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0209 | 1 | 298 | 0.0034 | 283 | c.51+ others(296): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159501205 | T | TTATATAT others(276): Show |
intron_variant | MODIFIER | NA18963.hp1 NA18963.hp2 |
a0004a0005 | a0004c0004a0005c0005 | a0004c0004t0002a0005c0005t0001 | a0004c0004t0002g0203 a0005c0005t0001g0069 |
2 | 216 | 0.0093 | 283 | c.-2- others(300): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2/36 | chr2 | TogoVar | |||||||
BCL11A_chr2_60452194_60558654 | 60468025 | A | AGTGATGG others(276): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0062 | 1 | 262 | 0.0038 | 283 | c.487 others(298): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
C20orf96_chr20_265863_295750 | 279062 | G | GGGAGGGA others(276): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0381 | 1 | 410 | 0.0024 | 283 | c.465 others(298): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404412 | T | TGAGGGGG others(276): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0129 | a0001c0001t0129g0109 | 1 | 322 | 0.0031 | 283 | c.*26 others(294): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1032 | chr19 | TogoVar | |||||||
CALCOCO2_chr17_48826035_48870245 | 48858046 | A | ATAGAATA others(276): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0042 | 1 | 328 | 0.0031 | 283 | c.100 others(302): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 10/12 | chr17 | TogoVar | |||||||
CAPN15_chr16_522712_559636 | 550768 | C | CCGGTGAG others(276): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0039 | a0039c0026 | a0039c0026t0002 | a0039c0026t0002g0179 | 1 | 410 | 0.0024 | 283 | c.206 others(300): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CCKAR_chr4_26476396_26495484 | 26484866 | A | ACCCAATC others(276): Show |
intron_variant | MODIFIER | NA18939.hp1 NA18986.hp1 NA18995.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0030 a0001c0001t0001g0055 a0001c0001t0002g0052 |
4 | 454 | 0.0088 | 283 | c.626 others(298): Show |
CCKAR | ENSG00000163394.6 | transcript | ENST00000295589.4 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
CCKAR_chr4_26476396_26495484 | 26484866 | A | ACCCAATC others(276): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG00621.hp2 others(37): Show |
a0001a0006a0013 | a0001c0001a0006c0008a0013c0016 | a0001c0001t0001a0006c0008t0001a0013c0016t0001 | a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0026 others(4): Show |
40 | 454 | 0.0881 | 283 | c.626 others(298): Show |
CCKAR | ENSG00000163394.6 | transcript | ENST00000295589.4 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
CCN6_chr6_112049104_112074686 | 112068826 | C | CTGGTCCT others(276): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0082 | 1 | 430 | 0.0023 | 283 | c.783 others(298): Show |
CCN6 | ENSG00000112761.22 | transcript | ENST00000368666.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CENPH_chr5_69184583_69215357 | 69204071 | A | ATAGAATA others(276): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0283 | 1 | 388 | 0.0026 | 283 | c.487 others(300): Show |
CENPH | ENSG00000153044.10 | transcript | ENST00000283006.7 | protein_coding | 7/8 | chr5 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24882027 | G | GATACATC others(276): Show |
downstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0044 | 1 | 440 | 0.0023 | 283 | c.*11 others(294): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 251 | chr13 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1982140 | C | CAGACAGA others(276): Show |
intron_variant | MODIFIER | NA18951.hp2 NA18973.hp1 NA19005.hp2 |
a0003a0005a0061 | a0003c0004a0005c0011a0061c0049 | a0003c0004t0002a0005c0011t0001a0061c0049t0002 | a0003c0004t0002g0260 a0005c0011t0001g0155 a0061c0049t0002g0266 |
3 | 278 | 0.0108 | 283 | c.500 others(300): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 6/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1982175 | C | CGGACAGA others(276): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00738.hp1 HG01175.hp2 others(16): Show |
a0002a0003a0005others(5): Show | a0002c0006a0003c0004a0005c0011others(5): Show | a0002c0006t0001a0003c0004t0002a0005c0011t0001others(5): Show | a0002c0006t0001g0057 a0002c0006t0001g0080 a0002c0006t0001g0094 others(16): Show |
19 | 278 | 0.0684 | 283 | c.500 others(300): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 6/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1982175 | C | CGGACAGA others(276): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0058 | 1 | 278 | 0.0036 | 283 | c.500 others(300): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 6/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1982175 | C | CGGACAGA others(276): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0227 | 1 | 278 | 0.0036 | 283 | c.500 others(300): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 6/38 | chr1 | TogoVar | |||||||
COMMD10_chr5_116080025_116298287 | 116158170 | C | CCTCCCTC others(276): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 350 | 0.0029 | 283 | c.510 others(302): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CSNKA2IP_chr3_88333456_88472594 | 88428992 | T | TAAAATTT others(276): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0267 | 1 | 386 | 0.0026 | 283 | c.-27 others(304): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CSTPP1_chr11_46931761_47167247 | 47036037 | A | AAAAGTGG others(276): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 224 | 0.0045 | 283 | c.150 others(302): Show |
CSTPP1 | ENSG00000149179.14 | transcript | ENST00000278460.12 | protein_coding | 2/8 | chr11 | TogoVar | |||||||
CUL4A_chr13_113204613_113272108 | 113232250 | G | GCTGCTGC others(276): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0240 | 1 | 396 | 0.0025 | 283 | c.513 others(298): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DDX51_chr12_132131594_132149319 | 132134967 | T | TCCCGAGT others(276): Show |
downstream_gene_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 334 | 0.0030 | 283 | c.*43 others(294): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1626 | chr12 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14211425 | T | TATTTACT others(276): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0002 | a0001c0002t0040 | a0001c0002t0040g0068 | 1 | 148 | 0.0068 | 283 | c.212 others(304): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | |||||||
DGKD_chr2_233349494_233477098 | 233397203 | T | TGCGGGGG others(276): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 | 1 | 336 | 0.0030 | 283 | c.348 others(300): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DGKD_chr2_233349494_233477098 | 233397503 | G | GAGGACAC others(276): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 336 | 0.0030 | 283 | c.348 others(300): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | chr2 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 516833 | A | AGGGGGGA others(276): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 88 | 0.0114 | 283 | c.86- others(300): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | AAAAATAT others(276): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02970.hp1 HG06807.hp2 |
a0022a0061 | a0022c0055a0022c0067a0061c0033 | a0022c0055t0001a0022c0067t0001a0061c0033t0001 | a0022c0055t0001g0064 a0022c0067t0001g0112 a0061c0033t0001g0047 |
3 | 266 | 0.0113 | 283 | c.730 others(302): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar |