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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UNC13A_chr19_17596336_17693354 | 17631034 | C | CTCTCTGA others(95): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0018 | 1 | 320 | 0.0031 | 102 | c.342 others(119): Show |
UNC13A | ENSG00000130477.16 | transcript | ENST00000519716.7 | protein_coding | 28/43 | chr19 | TogoVar | ||||||
UNC13A_chr19_17596336_17693354 | 17631034 | C | CTCTCTGA others(95): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0011 | a0001c0011t0020 | a0001c0011t0020g0035 | 1 | 320 | 0.0031 | 102 | c.342 others(119): Show |
UNC13A | ENSG00000130477.16 | transcript | ENST00000519716.7 | protein_coding | 28/43 | chr19 | TogoVar | ||||||
USH2A_chr1_215617891_216428448 | 216050576 | C | CCTTTCCT others(95): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0033 | a0033c0006 | a0033c0006t0014 | a0033c0006t0014g0007 | 1 | 74 | 0.0135 | 102 | c.605 others(121): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 30/71 | chr1 | TogoVar | ||||||
USH2A_chr1_215617891_216428448 | 216116075 | T | TTTATAGA others(95): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0028 | a0028c0022 | a0028c0022t0001 | a0028c0022t0001g0002 | 1 | 74 | 0.0135 | 102 | c.462 others(123): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 21/71 | chr1 | TogoVar | ||||||
USP30_chr12_109047576_109093023 | 109055400 | A | ATATATAT others(95): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 396 | 0.0025 | 102 | c.84- others(117): Show |
USP30 | ENSG00000135093.13 | transcript | ENST00000257548.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
USP40_chr2_233470526_233571782 | 233567840 | A | ATAGTTAT others(95): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 324 | 0.0031 | 102 | c.-11 others(113): Show |
USP40 | ENSG00000085982.16 | transcript | ENST00000678225.2 | protein_coding | 1059 | chr2 | TogoVar | ||||||
VAMP1_chr12_6457237_6475677 | 6465388 | A | ATATATAT others(95): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0080 | 1 | 446 | 0.0022 | 102 | c.289 others(117): Show |
VAMP1 | ENSG00000139190.17 | transcript | ENST00000396308.4 | protein_coding | 3/4 | chr12 | TogoVar | ||||||
VAMP1_chr12_6457237_6475677 | 6465416 | A | ATATATAT others(95): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0086 | 1 | 446 | 0.0022 | 102 | c.288 others(117): Show |
VAMP1 | ENSG00000139190.17 | transcript | ENST00000396308.4 | protein_coding | 3/4 | chr12 | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8466576 | G | GGGGAGGG others(95): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 | a0005 | a0005c0005 | a0005c0005t0008 | a0005c0005t0008g0028 | 1 | 271 | 0.0037 | 102 | c.*19 others(111): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 67 | chrX | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8466927 | A | AGGTGGTG others(95): Show |
downstream_gene_variant | MODIFIER | HG01346.hp1 | a0048 | a0048c0057 | a0048c0057t0002 | a0048c0057t0002g0003 | 1 | 271 | 0.0037 | 102 | c.*54 others(111): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 418 | chrX | TogoVar | ||||||
VEGFB_chr11_64229584_64244264 | 64237123 | G | GAGAGAGA others(95): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0033 | 2 | 328 | 0.0061 | 102 | c.375 others(115): Show |
VEGFB | ENSG00000173511.10 | transcript | ENST00000309422.7 | protein_coding | 4/6 | chr11 | TogoVar | ||||||
VEGFB_chr11_64229584_64244264 | 64237127 | G | GAGAGAGA others(95): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0145 | 1 | 328 | 0.0031 | 102 | c.375 others(115): Show |
VEGFB | ENSG00000173511.10 | transcript | ENST00000309422.7 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
VIPR2_chr7_159023175_159149867 | 159077702 | G | GCCTGTTA others(95): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0005 | a0001c0005t0047 | a0001c0005t0047g0327 | 1 | 336 | 0.0030 | 102 | c.358 others(121): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 4/12 | chr7 | TogoVar | ||||||
VOPP1_chr7_55465613_55577502 | 55519603 | C | CTGACAAC others(95): Show |
intron_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 318 | 0.0031 | 102 | c.113 others(119): Show |
VOPP1 | ENSG00000154978.13 | transcript | ENST00000285279.10 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
VPS13B_chr8_99008274_99882580 | 99849917 | A | ATACATAA others(95): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02074.hp1 NA18952.hp1 |
a0001a0006 | a0001c0002a0006c0012 | a0001c0002t0001a0006c0012t0002 | a0001c0002t0001g0025a0001c0002t0001g0077a0006c0012t0002g0022 | 3 | 134 | 0.0224 | 102 | c.100 others(123): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
VPS13B_chr8_99008274_99882580 | 99850223 | C | CTACATAA others(95): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02165.hp1 others(2): Show |
a0001a0020a0021 | a0001c0002a0020c0030a0021c0034 | a0001c0002t0001a0020c0030t0001a0021c0034t0001 | a0001c0002t0001g0008a0001c0002t0001g0021a0001c0002t0001g0031others(2): Show | 5 | 134 | 0.0373 | 102 | c.100 others(123): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
VPS13B_chr8_99008274_99882580 | 99850282 | T | TATACATA others(95): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0016 | a0001c0016t0004 | a0001c0016t0004g0088 | 1 | 134 | 0.0075 | 102 | c.100 others(123): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
VSIG1_chrX_108040065_108084184 | 108047829 | T | TACATATA others(95): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02698.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213a0001c0001t0001g0216 | 2 | 281 | 0.0071 | 102 | c.49+ others(117): Show |
VSIG1 | ENSG00000101842.14 | transcript | ENST00000217957.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
WFIKKN1_chr16_625985_639117 | 635397 | T | TGAGGCTG others(95): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 404 | 0.0050 | 102 | c.*13 others(113): Show |
WFIKKN1 | ENSG00000127578.7 | transcript | ENST00000319070.3 | protein_coding | 1281 | chr16 | TogoVar | ||||||
WRAP73_chr1_3625770_3655103 | 3643577 | A | AATGGGGT others(95): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02818.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0188a0001c0001t0003g0024 | 3 | 382 | 0.0079 | 102 | c.339 others(119): Show |
WRAP73 | ENSG00000116213.16 | transcript | ENST00000270708.12 | protein_coding | 3/11 | chr1 | TogoVar | ||||||
WWC2_chr4_183094257_183325777 | 183247616 | A | ATATACTA others(95): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0177 | 1 | 242 | 0.0041 | 102 | c.733 others(119): Show |
WWC2 | ENSG00000151718.16 | transcript | ENST00000403733.8 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
WWOX_chr16_78094654_79217667 | 78575012 | T | TATATATA others(95): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 142 | 0.0070 | 102 | c.105 others(125): Show |
WWOX | ENSG00000186153.19 | transcript | ENST00000566780.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ZFPM1_chr16_88448280_88542031 | 88501138 | A | ATCCCGCA others(95): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0149 | 1 | 318 | 0.0031 | 102 | c.268 others(121): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ZFPM1_chr16_88448280_88542031 | 88501391 | C | CTCCCGCA others(95): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02451.hp2 HG03195.hp2 |
a0001a0005a0031 | a0001c0001a0005c0007a0031c0059 | a0001c0001t0001a0005c0007t0009a0031c0059t0018 | a0001c0001t0001g0275a0005c0007t0009g0288a0031c0059t0018g0062 | 3 | 318 | 0.0094 | 102 | c.268 others(121): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ZHX3_chr20_41173455_41322731 | 41196482 | T | TTATAAAT others(95): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00733.hp1 HG00733.hp2 others(85): Show |
a0001a0005a0006 | a0001c0001a0001c0011a0005c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0133a0001c0001t0002g0002a0001c0001t0002g0003others(83): Show | 88 | 360 | 0.2444 | 102 | c.286 others(121): Show |
ZHX3 | ENSG00000174306.22 | transcript | ENST00000683867.1 | protein_coding | 3/3 | chr20 | TogoVar | ||||||
ZHX3_chr20_41173455_41322731 | 41196482 | T | TTATAAAT others(95): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0050a0001c0001t0007g0051 | 2 | 360 | 0.0056 | 102 | c.286 others(121): Show |
ZHX3 | ENSG00000174306.22 | transcript | ENST00000683867.1 | protein_coding | 3/3 | chr20 | TogoVar | ||||||
ZHX3_chr20_41173455_41322731 | 41196495 | T | TTATATAT others(95): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01346.hp1 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0176a0002c0002t0004g0179 | 2 | 360 | 0.0056 | 102 | c.286 others(121): Show |
ZHX3 | ENSG00000174306.22 | transcript | ENST00000683867.1 | protein_coding | 3/3 | chr20 | TogoVar | ||||||
ZNF280D_chr15_56625176_56738509 | 56669974 | A | ATATTATA others(95): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 386 | 0.0026 | 102 | c.141 others(121): Show |
ZNF280D | ENSG00000137871.21 | transcript | ENST00000267807.12 | protein_coding | 13/21 | chr15 | TogoVar | ||||||
ZNF280D_chr15_56625176_56738509 | 56669974 | A | ATATTATA others(95): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142a0001c0001t0001g0143a0001c0001t0001g0158 | 3 | 386 | 0.0078 | 102 | c.141 others(121): Show |
ZNF280D | ENSG00000137871.21 | transcript | ENST00000267807.12 | protein_coding | 13/21 | chr15 | TogoVar | ||||||
ZNF280D_chr15_56625176_56738509 | 56669974 | A | ATTATATA others(95): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 386 | 0.0026 | 102 | c.141 others(121): Show |
ZNF280D | ENSG00000137871.21 | transcript | ENST00000267807.12 | protein_coding | 13/21 | chr15 | TogoVar | ||||||
ZNF430_chr19_21015657_21065050 | 21019685 | T | TATAAATA others(95): Show |
upstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 298 | 0.0034 | 102 | c.-11 others(113): Show |
ZNF430 | ENSG00000118620.13 | transcript | ENST00000261560.10 | protein_coding | 971 | chr19 | TogoVar | ||||||
ZNF430_chr19_21015657_21065050 | 21019807 | T | TATATATA others(95): Show |
upstream_gene_variant | MODIFIER | NA18968.hp1 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0202 | 2 | 298 | 0.0067 | 102 | c.-99 others(111): Show |
ZNF430 | ENSG00000118620.13 | transcript | ENST00000261560.10 | protein_coding | 849 | chr19 | TogoVar | ||||||
ZNF469_chr16_88377959_88445753 | 88440989 | A | AGCCCACC others(95): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 | a0027 | a0027c0027 | a0027c0027t0001 | a0027c0027t0001g0214 | 1 | 354 | 0.0028 | 102 | c.*16 others(113): Show |
ZNF469 | ENSG00000225614.4 | transcript | ENST00000565624.3 | protein_coding | 237 | chr16 | TogoVar | ||||||
ZNF543_chr19_57315472_57335770 | 57319381 | C | CACATACA others(95): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0004 | a0004c0004 | a0004c0004t0022 | a0004c0004t0022g0051 | 1 | 460 | 0.0022 | 102 | c.-14 others(113): Show |
ZNF543 | ENSG00000178229.8 | transcript | ENST00000321545.5 | protein_coding | 1090 | chr19 | TogoVar | ||||||
ZNF543_chr19_57315472_57335770 | 57319381 | C | CATATACA others(95): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 | a0003 | a0003c0003 | a0003c0003t0026 | a0003c0003t0026g0034 | 1 | 460 | 0.0022 | 102 | c.-14 others(113): Show |
ZNF543 | ENSG00000178229.8 | transcript | ENST00000321545.5 | protein_coding | 1090 | chr19 | TogoVar | ||||||
ZNF543_chr19_57315472_57335770 | 57319459 | C | CATATATA others(95): Show |
upstream_gene_variant | MODIFIER | NA19030.hp2 | a0003 | a0003c0003 | a0003c0003t0028 | a0003c0003t0028g0064 | 1 | 460 | 0.0022 | 102 | c.-13 others(113): Show |
ZNF543 | ENSG00000178229.8 | transcript | ENST00000321545.5 | protein_coding | 1012 | chr19 | TogoVar | ||||||
ZNF641_chr12_48332180_48355919 | 48332490 | C | CGGGGCGG others(95): Show |
downstream_gene_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0054 | 1 | 408 | 0.0025 | 102 | c.*10 others(115): Show |
ZNF641 | ENSG00000167528.13 | transcript | ENST00000547026.6 | protein_coding | 4689 | chr12 | TogoVar | ||||||
ZNF681_chr19_23734195_23763891 | 23761901 | A | ATTCTTTC others(95): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0053 | 1 | 394 | 0.0025 | 102 | c.-31 others(113): Show |
ZNF681 | ENSG00000196172.9 | transcript | ENST00000402377.3 | protein_coding | 3011 | chr19 | TogoVar | ||||||
ZNF681_chr19_23734195_23763891 | 23761922 | T | TCCTTCCT others(95): Show |
upstream_gene_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 394 | 0.0025 | 102 | c.-31 others(113): Show |
ZNF681 | ENSG00000196172.9 | transcript | ENST00000402377.3 | protein_coding | 3032 | chr19 | TogoVar | ||||||
ZNF681_chr19_23734195_23763891 | 23761922 | T | TCCTTCCT others(95): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 394 | 0.0025 | 102 | c.-31 others(113): Show |
ZNF681 | ENSG00000196172.9 | transcript | ENST00000402377.3 | protein_coding | 3032 | chr19 | TogoVar | ||||||
ZNF723_chr19_22827291_22863667 | 22862560 | A | ATGTAATA others(95): Show |
downstream_gene_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 364 | 0.0028 | 102 | c.*41 others(113): Show |
ZNF723 | ENSG00000268696.3 | transcript | ENST00000600766.3 | protein_coding | 3894 | chr19 | TogoVar | ||||||
ZNF732_chr4_265675_310474 | 299444 | T | TATACACA others(95): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01106.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0016a0003c0004t0001g0249 | 3 | 326 | 0.0092 | 102 | c.4-3 others(115): Show |
ZNF732 | ENSG00000186777.13 | transcript | ENST00000419098.6 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
ZNF787_chr19_56082366_56126295 | 56105887 | G | GCCGCGCC others(95): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0003 | a0002c0003t0064 | a0002c0003t0064g0317 | 1 | 410 | 0.0024 | 102 | c.-10 others(119): Show |
ZNF787 | ENSG00000142409.6 | transcript | ENST00000610935.2 | protein_coding | 1/2 | chr19 | TogoVar | ||||||
ZNF799_chr19_12385016_12406271 | 12386514 | G | GAAGGGAA others(95): Show |
downstream_gene_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 446 | 0.0022 | 102 | c.*39 others(113): Show |
ZNF799 | ENSG00000196466.10 | transcript | ENST00000430385.3 | protein_coding | 3501 | chr19 | TogoVar | ||||||
ZSCAN22_chr19_58321994_58347332 | 58326653 | C | CCCATCCC others(95): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 400 | 0.0025 | 102 | c.-51 others(111): Show |
ZSCAN22 | ENSG00000182318.6 | transcript | ENST00000329665.5 | protein_coding | 340 | chr19 | TogoVar | ||||||
ZYG11B_chr1_52721453_52832336 | 52783851 | C | CGTGTGCG others(95): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0152 | 1 | 352 | 0.0028 | 102 | c.109 others(121): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZYG11B_chr1_52721453_52832336 | 52783853 | T | TGTGCGTA others(95): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0342 | 1 | 352 | 0.0028 | 102 | c.109 others(121): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AARSD1_chr17_42945526_42969454 | 42967537 | A | AATATATA others(96): Show |
upstream_gene_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0121 | 2 | 324 | 0.0062 | 103 | c.-30 others(114): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3084 | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81140835 | T | TGAGCTGT others(96): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0017 | a0017c0074 | a0017c0074t0001 | a0017c0074t0001g0182 | 1 | 368 | 0.0027 | 103 | c.56- others(118): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81140835 | T | TGAGCTGT others(96): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02451.hp1 HG03471.hp2 others(1): Show |
a0014a0019a0020 | a0014c0028a0019c0067a0020c0068 | a0014c0028t0001a0019c0067t0004a0020c0068t0004 | a0014c0028t0001g0342a0014c0028t0001g0343a0019c0067t0004g0333others(1): Show | 4 | 368 | 0.0109 | 103 | c.56- others(118): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar |