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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CCSER2_chr10_84323589_84523517 | 84501835 | A | AAATATAT others(177): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0045 | 1 | 370 | 0.0027 | 184 | c.232 others(205): Show |
CCSER2 | ENSG00000107771.17 | transcript | ENST00000372088.8 | protein_coding | 9/9 | chr10 | TogoVar | |||||||
CD247_chr1_167425640_167523529 | 167434947 | C | CTCCTCCA others(177): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0096 a0001c0001t0005g0356 |
2 | 374 | 0.0054 | 184 | c.336 others(199): Show |
CD247 | ENSG00000198821.12 | transcript | ENST00000362089.10 | protein_coding | 5/7 | chr1 | TogoVar | |||||||
CD247_chr1_167425640_167523529 | 167434959 | T | TTCCTCCG others(177): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0058 | 1 | 374 | 0.0027 | 184 | c.336 others(199): Show |
CD247 | ENSG00000198821.12 | transcript | ENST00000362089.10 | protein_coding | 5/7 | chr1 | TogoVar | |||||||
CD300A_chr17_74461634_74489794 | 74482697 | C | CCTTCCTT others(177): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0115 | 1 | 424 | 0.0024 | 184 | c.774 others(199): Show |
CD300A | ENSG00000167851.15 | transcript | ENST00000360141.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CD3G_chr11_118339344_118360161 | 118355868 | T | TATATACA others(177): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0005 a0001c0001t0004g0005 |
2 | 442 | 0.0045 | 184 | c.*27 others(195): Show |
CD3G | ENSG00000160654.11 | transcript | ENST00000532917.3 | protein_coding | 708 | chr11 | TogoVar | |||||||
CD81_chr11_2372310_2402397 | 2385620 | T | TGTGGCGT others(177): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0064 | 1 | 388 | 0.0026 | 184 | c.67- others(199): Show |
CD81 | ENSG00000110651.13 | transcript | ENST00000263645.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CDH13_chr16_82621969_83805640 | 83031167 | T | TATATACA others(177): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01081.hp2 HG02055.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0005a0001c0001t0008a0001c0001t0034others(5): Show | a0001c0001t0005g0054 a0001c0001t0005g0106 a0001c0001t0008g0052 others(7): Show |
10 | 110 | 0.0909 | 184 | c.158 others(199): Show |
CDH13 | ENSG00000140945.17 | transcript | ENST00000567109.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH17_chr8_94122162_94213555 | 94168114 | A | ATATATAT others(177): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0039 | 1 | 338 | 0.0030 | 184 | c.106 others(203): Show |
CDH17 | ENSG00000079112.10 | transcript | ENST00000027335.8 | protein_coding | 9/17 | chr8 | TogoVar | |||||||
CDH8_chr16_61642250_62041438 | 61960055 | G | GTGTGTAT others(177): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0078 | 1 | 168 | 0.0060 | 184 | c.253 others(203): Show |
CDH8 | ENSG00000150394.14 | transcript | ENST00000577390.6 | protein_coding | 2/11 | chr16 | TogoVar | |||||||
CDK2AP1_chr12_123255976_123276856 | 123275157 | A | AGGTGCTG others(177): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0102 | 1 | 328 | 0.0031 | 184 | c.-35 others(195): Show |
CDK2AP1 | ENSG00000111328.7 | transcript | ENST00000261692.7 | protein_coding | 3302 | chr12 | TogoVar | |||||||
CELSR3_chr3_48631463_48667886 | 48647407 | A | AGGGAGAT others(177): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0082 | 1 | 206 | 0.0049 | 184 | c.712 others(201): Show |
CELSR3 | ENSG00000008300.17 | transcript | ENST00000164024.5 | protein_coding | 20/34 | chr3 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71752481 | G | GGGGAGGG others(177): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0011 | a0011c0020 | a0011c0020t0012 | a0011c0020t0012g0051 | 1 | 320 | 0.0031 | 184 | c.-12 others(201): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 1/23 | chr9 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24881925 | G | GATACATC others(177): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0246 | 1 | 440 | 0.0023 | 184 | c.*12 others(195): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 353 | chr13 | TogoVar | |||||||
CFAP299_chr4_80330730_80968750 | 80800665 | T | TAATATAT others(177): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03139.hp1 HG03195.hp2 others(1): Show |
a0002 | a0002c0005a0002c0006 | a0002c0005t0001a0002c0006t0001 | a0002c0005t0001g0070 a0002c0005t0001g0071 a0002c0005t0001g0076 others(1): Show |
4 | 96 | 0.0417 | 184 | c.334 others(203): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | chr4 | TogoVar | |||||||
CFAP45_chr1_159867364_159905165 | 159868681 | T | TGACTAGC others(177): Show |
downstream_gene_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 410 | 0.0024 | 184 | c.*38 others(195): Show |
CFAP45 | ENSG00000213085.10 | transcript | ENST00000368099.9 | protein_coding | 3682 | chr1 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20296130 | C | CTCTCCTT others(177): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02723.hp1 HG02809.hp2 others(2): Show |
a0002a0010 | a0002c0009a0010c0020 | a0002c0009t0001a0002c0009t0002a0002c0009t0003others(1): Show | a0002c0009t0001g0105 a0002c0009t0002g0104 a0002c0009t0002g0106 others(2): Show |
5 | 236 | 0.0212 | 184 | c.321 others(203): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 24/26 | chr20 | TogoVar | |||||||
CFAP77_chr9_132405211_132578319 | 132519534 | G | GGATGAAT others(177): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02257.hp1 HG02647.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0039 a0001c0002t0001g0060 a0001c0002t0001g0071 others(2): Show |
5 | 322 | 0.0155 | 184 | c.525 others(203): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85911162 | T | TATATATA others(177): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0227 | 1 | 245 | 0.0041 | 184 | c.124 others(199): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 9/14 | chrX | TogoVar | |||||||
COL4A3_chr2_227159624_227319792 | 227203074 | T | TATATATA others(177): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 344 | 0.0029 | 184 | c.88- others(201): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227203378 | T | TGTGTATA others(177): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0004 | a0002c0004t0013 | a0002c0004t0013g0067 | 1 | 344 | 0.0029 | 184 | c.88- others(201): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | chr2 | TogoVar | |||||||
COL6A1_chr21_45976770_46010048 | 45981597 | C | CCCGCCCC others(177): Show |
upstream_gene_variant | MODIFIER | NA19005.hp2 | a0038 | a0038c0017 | a0038c0017t0002 | a0038c0017t0002g0096 | 1 | 128 | 0.0078 | 184 | c.-25 others(193): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 172 | chr21 | TogoVar | |||||||
COMMD10_chr5_116080025_116298287 | 116158495 | T | TCTCCGTC others(177): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0065 | 1 | 350 | 0.0029 | 184 | c.510 others(203): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131792648 | T | TATATATA others(177): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0037 | 1 | 94 | 0.0106 | 184 | c.181 others(203): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 2/15 | chr3 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131792648 | T | TATATATA others(177): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0067 | 1 | 94 | 0.0106 | 184 | c.181 others(203): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 2/15 | chr3 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89587335 | G | GCCCCACC others(177): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0323 | 1 | 348 | 0.0029 | 184 | c.927 others(199): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89587909 | G | GCCCCCGT others(177): Show |
intron_variant | MODIFIER | NA18970.hp2 NA19057.hp1 |
a0001a0013 | a0001c0001a0013c0022 | a0001c0001t0001a0013c0022t0001 | a0001c0001t0001g0191 a0013c0022t0001g0224 |
2 | 348 | 0.0058 | 184 | c.928 others(199): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CPNE7_chr16_89570758_89602246 | 89598081 | C | CATCCACC others(177): Show |
downstream_gene_variant | MODIFIER | NA18950.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0324 | 1 | 348 | 0.0029 | 184 | c.*14 others(195): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 836 | chr16 | TogoVar | |||||||
CRELD2_chr22_49913634_49932537 | 49926713 | C | CCCCCACC others(177): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 324 | 0.0031 | 184 | c.101 others(201): Show |
CRELD2 | ENSG00000184164.15 | transcript | ENST00000328268.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CRKL_chr22_20912407_20958747 | 20955490 | A | ATATATAT others(177): Show |
downstream_gene_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0342 | 1 | 370 | 0.0027 | 184 | c.*56 others(195): Show |
CRKL | ENSG00000099942.13 | transcript | ENST00000354336.8 | protein_coding | 1744 | chr22 | TogoVar | |||||||
CRKL_chr22_20912407_20958747 | 20955490 | A | ATATATAT others(177): Show |
downstream_gene_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 370 | 0.0027 | 184 | c.*56 others(195): Show |
CRKL | ENSG00000099942.13 | transcript | ENST00000354336.8 | protein_coding | 1744 | chr22 | TogoVar | |||||||
CRKL_chr22_20912407_20958747 | 20955490 | A | ATATATAT others(177): Show |
downstream_gene_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 370 | 0.0027 | 184 | c.*56 others(195): Show |
CRKL | ENSG00000099942.13 | transcript | ENST00000354336.8 | protein_coding | 1744 | chr22 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3354879 | C | CTATAGAT others(177): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0015 | a0015c0063 | a0015c0063t0010 | a0015c0063t0010g0045 | 1 | 126 | 0.0079 | 184 | c.330 others(203): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 21/69 | chr8 | TogoVar | |||||||
DAAM2_chr6_39787376_39909869 | 39905999 | A | AATGAGAA others(177): Show |
downstream_gene_variant | MODIFIER | NA18944.hp2 NA18945.hp1 NA18956.hp1 others(3): Show |
a0001 | a0001c0006a0001c0044 | a0001c0006t0013a0001c0006t0015a0001c0044t0015 | a0001c0006t0013g0064 a0001c0006t0013g0207 a0001c0006t0013g0246 others(3): Show |
6 | 300 | 0.0200 | 184 | c.*39 others(195): Show |
DAAM2 | ENSG00000146122.17 | transcript | ENST00000274867.9 | protein_coding | 1131 | chr6 | TogoVar | |||||||
DECR2_chr16_396885_417482 | 397740 | G | GGGGGTGG others(177): Show |
upstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 367 | 0.0027 | 184 | c.-42 others(195): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4144 | chr16 | TogoVar | |||||||
DGAT1_chr8_144309584_144331852 | 144313658 | C | CCGCGCCT others(177): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 NA18980.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0071 |
2 | 370 | 0.0054 | 184 | c.*28 others(195): Show |
DGAT1 | ENSG00000185000.12 | transcript | ENST00000528718.6 | protein_coding | 925 | chr8 | TogoVar | |||||||
DGAT1_chr8_144309584_144331852 | 144313788 | G | GCGCCGCC others(177): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 370 | 0.0027 | 184 | c.*27 others(195): Show |
DGAT1 | ENSG00000185000.12 | transcript | ENST00000528718.6 | protein_coding | 795 | chr8 | TogoVar | |||||||
DGAT1_chr8_144309584_144331852 | 144313788 | G | GCGCCGCC others(177): Show |
downstream_gene_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 370 | 0.0027 | 184 | c.*27 others(195): Show |
DGAT1 | ENSG00000185000.12 | transcript | ENST00000528718.6 | protein_coding | 795 | chr8 | TogoVar | |||||||
DGCR2_chr22_19031286_19127412 | 19062790 | C | CCTCTCTC others(177): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0167 | 1 | 344 | 0.0029 | 184 | c.625 others(199): Show |
DGCR2 | ENSG00000070413.21 | transcript | ENST00000263196.12 | protein_coding | 5/9 | chr22 | TogoVar | |||||||
DGKD_chr2_233349494_233477098 | 233397217 | T | TGCCAGAG others(177): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG01069.hp2 others(37): Show |
a0001a0005 | a0001c0001a0001c0011a0005c0010 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0199 a0001c0001t0001g0207 a0001c0001t0003g0189 others(37): Show |
40 | 336 | 0.1191 | 184 | c.348 others(201): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3674754 | C | CTCACCTC others(177): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02559.hp1 HG02976.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0041a0001c0002t0001a0001c0002t0014others(3): Show | a0001c0001t0041g0079 a0001c0002t0001g0039 a0001c0002t0014g0064 others(3): Show |
6 | 80 | 0.0750 | 184 | c.159 others(205): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1417628 | C | CCTCCAGT others(177): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01496.hp2 HG02074.hp1 others(3): Show |
a0001a0002a0004others(1): Show | a0001c0003a0001c0013a0002c0001others(2): Show | a0001c0003t0001a0001c0013t0025a0002c0001t0020others(2): Show | a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0013t0025g0012 others(3): Show |
6 | 40 | 0.1500 | 184 | c.107 others(203): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1417628 | C | CCTCCAGT others(177): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0009 | a0002c0009t0021 | a0002c0009t0021g0014 | 1 | 40 | 0.0250 | 184 | c.107 others(203): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123912143 | G | GGGGGGGT others(177): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0071 | a0071c0032 | a0071c0032t0001 | a0071c0032t0001g0083 | 1 | 170 | 0.0059 | 184 | c.101 others(203): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400895 | T | TCCACCAC others(177): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0050 | 1 | 256 | 0.0039 | 184 | c.323 others(203): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOP1A_chr6_83062671_83173471 | 83145192 | A | ATATATAT others(177): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 298 | 0.0034 | 184 | c.554 others(201): Show |
DOP1A | ENSG00000083097.15 | transcript | ENST00000349129.7 | protein_coding | 24/38 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89619330 | T | TCCATGCC others(177): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 250 | 0.0040 | 184 | c.-10 others(203): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89635025 | C | CCCTTTCT others(177): Show |
intron_variant | MODIFIER | NA18983.hp1 NA19009.hp1 NA19079.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 others(3): Show |
6 | 250 | 0.0240 | 184 | c.105 others(199): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DR1_chr1_93340907_93374493 | 93344857 | T | TTATATAT others(177): Show |
upstream_gene_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 | 1 | 360 | 0.0028 | 184 | c.-17 others(195): Show |
DR1 | ENSG00000117505.13 | transcript | ENST00000370272.9 | protein_coding | 1049 | chr1 | TogoVar | |||||||
DTD1_chr20_18583054_18771644 | 18695431 | C | CTCCCCTC others(177): Show |
intron_variant | MODIFIER | HG02055.hp1 NA18980.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0027 | a0001c0001t0002g0095 a0001c0001t0027g0216 |
2 | 398 | 0.0050 | 184 | c.478 others(203): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DUXA_chr19_57149021_57172485 | 57172116 | A | AGGGGGCG others(177): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 446 | 0.0022 | 184 | c.-46 others(195): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 4632 | chr19 | TogoVar |