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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARMC1_chr8_65597458_65639177 | 65630940 | T | TCCACAGG others(4): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0106 | 1 | 390 | 0.0026 | 11 | c.-36 others(28): Show |
ARMC1 | ENSG00000104442.10 | transcript | ENST00000276569.8 | protein_coding | 1/6 | chr8 | TogoVar | ||||||
ARMC2_chr6_108843422_108979476 | 108890189 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0222 | 1 | 290 | 0.0035 | 11 | c.672 others(28): Show |
ARMC2 | ENSG00000118690.13 | transcript | ENST00000392644.9 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ARMC8_chr3_138182301_138303373 | 138256402 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 246 | 0.0041 | 11 | c.113 others(30): Show |
ARMC8 | ENSG00000114098.18 | transcript | ENST00000469044.6 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ARMH1_chr1_44669714_44730591 | 44670169 | T | TAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG02148.hp1 HG03098.hp1 NA18943.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0024a0001c0001t0001g0025others(1): Show | 4 | 288 | 0.0139 | 11 | c.-47 others(22): Show |
ARMH1 | ENSG00000198520.12 | transcript | ENST00000535358.6 | protein_coding | 4544 | chr1 | TogoVar | ||||||
ARMH1_chr1_44669714_44730591 | 44691737 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | NA18959.hp1 NA18960.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0013 | 2 | 288 | 0.0069 | 11 | c.206 others(28): Show |
ARMH1 | ENSG00000198520.12 | transcript | ENST00000535358.6 | protein_coding | 2/11 | chr1 | TogoVar | ||||||
ARMH3_chr10_101840599_102061173 | 101856325 | C | CAATACTC others(4): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0242 | 1 | 262 | 0.0038 | 11 | c.186 others(30): Show |
ARMH3 | ENSG00000120029.13 | transcript | ENST00000370033.9 | protein_coding | 24/25 | chr10 | TogoVar | ||||||
ARMH3_chr10_101840599_102061173 | 102007159 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00673.hp1 others(59): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(1): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(59): Show | 62 | 262 | 0.2366 | 11 | c.955 others(26): Show |
ARMH3 | ENSG00000120029.13 | transcript | ENST00000370033.9 | protein_coding | 13/25 | chr10 | TogoVar | ||||||
ARMH4_chr14_57995761_58157213 | 58094329 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG01106.hp1 others(5): Show |
a0002a0003a0004 | a0002c0002a0003c0012a0004c0004 | a0002c0002t0003a0003c0012t0001a0004c0004t0001others(1): Show | a0002c0002t0003g0223a0003c0012t0001g0127a0004c0004t0001g0029others(5): Show | 8 | 258 | 0.0310 | 11 | c.208 others(30): Show |
ARMH4 | ENSG00000139971.15 | transcript | ENST00000267485.7 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
ARMT1_chr6_151447466_151475101 | 151449060 | C | CAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 418 | 0.0024 | 11 | c.-34 others(22): Show |
ARMT1 | ENSG00000146476.11 | transcript | ENST00000367294.4 | protein_coding | 3405 | chr6 | TogoVar | ||||||
ARMT1_chr6_151447466_151475101 | 151472825 | A | ATATATAT others(4): Show |
downstream_gene_variant | MODIFIER | NA19010.hp2 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0078 | 2 | 418 | 0.0048 | 11 | c.*37 others(22): Show |
ARMT1 | ENSG00000146476.11 | transcript | ENST00000367294.4 | protein_coding | 2725 | chr6 | TogoVar | ||||||
ARMT1_chr6_151447466_151475101 | 151472827 | A | ATATATAT others(4): Show |
downstream_gene_variant | MODIFIER | HG02132.hp1 HG02273.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0017 | 2 | 418 | 0.0048 | 11 | c.*37 others(22): Show |
ARMT1 | ENSG00000146476.11 | transcript | ENST00000367294.4 | protein_coding | 2727 | chr6 | TogoVar | ||||||
ARNT2_chr15_80399382_80602933 | 80433242 | A | ATTTTATT others(4): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01074.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0011a0001c0001t0001g0112a0001c0001t0002g0020others(13): Show | 16 | 268 | 0.0597 | 11 | c.32- others(28): Show |
ARNT2 | ENSG00000172379.22 | transcript | ENST00000303329.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ARNT2_chr15_80399382_80602933 | 80433247 | A | ATTTTATT others(4): Show |
intron_variant | MODIFIER | NA18522.hp2 NA18974.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013 | a0001c0001t0002g0188a0001c0001t0013g0264 | 2 | 268 | 0.0075 | 11 | c.32- others(28): Show |
ARNT2 | ENSG00000172379.22 | transcript | ENST00000303329.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ARNT2_chr15_80399382_80602933 | 80433252 | A | ATTTTATT others(4): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01109.hp2 HG01516.hp1 others(26): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0019a0001c0001t0001g0028a0001c0001t0001g0046others(25): Show | 29 | 268 | 0.1082 | 11 | c.32- others(28): Show |
ARNT2 | ENSG00000172379.22 | transcript | ENST00000303329.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ARNT2_chr15_80399382_80602933 | 80433257 | A | ATTTTATT others(4): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 268 | 0.0037 | 11 | c.32- others(28): Show |
ARNT2 | ENSG00000172379.22 | transcript | ENST00000303329.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ARNT2_chr15_80399382_80602933 | 80505927 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01255.hp1 HG01255.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0041a0001c0001t0001g0224a0001c0001t0002g0020others(15): Show | 18 | 268 | 0.0672 | 11 | c.623 others(28): Show |
ARNT2 | ENSG00000172379.22 | transcript | ENST00000303329.9 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ARNT2_chr15_80399382_80602933 | 80505929 | T | TTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0226 | 1 | 268 | 0.0037 | 11 | c.623 others(28): Show |
ARNT2 | ENSG00000172379.22 | transcript | ENST00000303329.9 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ARNT2_chr15_80399382_80602933 | 80516828 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0149 | 1 | 268 | 0.0037 | 11 | c.877 others(28): Show |
ARNT2 | ENSG00000172379.22 | transcript | ENST00000303329.9 | protein_coding | 8/18 | chr15 | TogoVar | ||||||
ARPC1A_chr7_99320898_99371262 | 99338378 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02559.hp1 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171a0001c0001t0001g0172a0001c0001t0001g0181 | 3 | 316 | 0.0095 | 11 | c.169 others(26): Show |
ARPC1A | ENSG00000241685.10 | transcript | ENST00000262942.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ARPC1A_chr7_99320898_99371262 | 99344920 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02630.hp1 HG02717.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167a0001c0001t0001g0168a0001c0001t0001g0170others(2): Show | 5 | 316 | 0.0158 | 11 | c.392 others(26): Show |
ARPC1A | ENSG00000241685.10 | transcript | ENST00000262942.10 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ARPC2_chr2_218212189_218259348 | 218215618 | T | TAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG01257.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035a0001c0001t0001g0162 | 2 | 332 | 0.0060 | 11 | c.-16 others(22): Show |
ARPC2 | ENSG00000163466.16 | transcript | ENST00000315717.10 | protein_coding | 1570 | chr2 | TogoVar | ||||||
ARPC3_chr12_110429823_110455337 | 110430927 | C | CAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 334 | 0.0030 | 11 | c.*42 others(22): Show |
ARPC3 | ENSG00000111229.16 | transcript | ENST00000228825.12 | protein_coding | 3895 | chr12 | TogoVar | ||||||
ARPC3_chr12_110429823_110455337 | 110450831 | C | CAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG02280.hp1 HG02622.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0071a0001c0001t0001g0104others(5): Show | 8 | 334 | 0.0240 | 11 | c.-57 others(20): Show |
ARPC3 | ENSG00000111229.16 | transcript | ENST00000228825.12 | protein_coding | 495 | chr12 | TogoVar | ||||||
ARPP19_chr15_52542045_52574030 | 52544163 | C | CTTTTCTT others(4): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG02027.hp2 HG02165.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0034 | a0001c0001t0007g0053a0001c0001t0007g0054a0001c0001t0007g0159others(3): Show | 6 | 422 | 0.0142 | 11 | c.*77 others(22): Show |
ARPP19 | ENSG00000128989.11 | transcript | ENST00000249822.9 | protein_coding | 2881 | chr15 | TogoVar | ||||||
ARPP21_chr3_35634525_35799486 | 35667840 | C | CGAAGAAG others(4): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG03041.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0008a0001c0001t0001g0012a0001c0001t0001g0013others(3): Show | 6 | 266 | 0.0226 | 11 | c.-21 others(32): Show |
ARPP21 | ENSG00000172995.17 | transcript | ENST00000684406.1 | protein_coding | 1/20 | chr3 | TogoVar | ||||||
ARPP21_chr3_35634525_35799486 | 35667841 | A | AAGAAGAA others(4): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 266 | 0.0038 | 11 | c.-21 others(32): Show |
ARPP21 | ENSG00000172995.17 | transcript | ENST00000684406.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ARPP21_chr3_35634525_35799486 | 35667913 | G | GAAGAAGA others(4): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0045 | 1 | 266 | 0.0038 | 11 | c.-21 others(32): Show |
ARPP21 | ENSG00000172995.17 | transcript | ENST00000684406.1 | protein_coding | 1/20 | chr3 | TogoVar | ||||||
ARPP21_chr3_35634525_35799486 | 35667931 | G | GAAGGAGA others(4): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02622.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0216a0001c0006t0001g0217 | 2 | 266 | 0.0075 | 11 | c.-21 others(32): Show |
ARPP21 | ENSG00000172995.17 | transcript | ENST00000684406.1 | protein_coding | 1/20 | chr3 | TogoVar | ||||||
ARRB1_chr11_75255122_75356661 | 75353800 | T | TATATATA others(4): Show |
upstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0168 | 1 | 320 | 0.0031 | 11 | c.-21 others(22): Show |
ARRB1 | ENSG00000137486.17 | transcript | ENST00000420843.7 | protein_coding | 2140 | chr11 | TogoVar | ||||||
ARRB2_chr17_4705632_4726497 | 4709638 | C | CAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 HG02976.hp2 HG03041.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022a0001c0002t0001g0094 | 4 | 432 | 0.0093 | 11 | c.-10 others(22): Show |
ARRB2 | ENSG00000141480.18 | transcript | ENST00000269260.7 | protein_coding | 993 | chr17 | TogoVar | ||||||
ARRB2_chr17_4705632_4726497 | 4715720 | C | CACACACA others(4): Show |
intron_variant | MODIFIER | HG02055.hp2 NA18949.hp1 NA19004.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036a0001c0001t0001g0107a0001c0001t0001g0121 | 5 | 432 | 0.0116 | 11 | c.55- others(24): Show |
ARRB2 | ENSG00000141480.18 | transcript | ENST00000269260.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ARRB2_chr17_4705632_4726497 | 4724411 | C | CAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(71): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(45): Show | 74 | 432 | 0.1713 | 11 | c.*33 others(22): Show |
ARRB2 | ENSG00000141480.18 | transcript | ENST00000269260.7 | protein_coding | 2915 | chr17 | TogoVar | ||||||
ARRB2_chr17_4705632_4726497 | 4724411 | C | CACAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00741.hp2 NA18942.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0033others(1): Show | 4 | 432 | 0.0093 | 11 | c.*33 others(22): Show |
ARRB2 | ENSG00000141480.18 | transcript | ENST00000269260.7 | protein_coding | 2915 | chr17 | TogoVar | ||||||
ARRDC1_chr9_137600686_137620360 | 137601255 | A | ATTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 338 | 0.0030 | 11 | c.-44 others(22): Show |
ARRDC1 | ENSG00000197070.14 | transcript | ENST00000371421.9 | protein_coding | 4430 | chr9 | TogoVar | ||||||
ARRDC1_chr9_137600686_137620360 | 137601259 | A | ATATATAT others(4): Show |
upstream_gene_variant | MODIFIER | HG03704.hp2 NA18955.hp1 NA18999.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0009 | 3 | 338 | 0.0089 | 11 | c.-44 others(22): Show |
ARRDC1 | ENSG00000197070.14 | transcript | ENST00000371421.9 | protein_coding | 4426 | chr9 | TogoVar | ||||||
ARRDC1_chr9_137600686_137620360 | 137601259 | A | ATATATAT others(4): Show |
upstream_gene_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 338 | 0.0030 | 11 | c.-44 others(22): Show |
ARRDC1 | ENSG00000197070.14 | transcript | ENST00000371421.9 | protein_coding | 4426 | chr9 | TogoVar | ||||||
ARRDC1_chr9_137600686_137620360 | 137601259 | A | ATATATTT others(4): Show |
upstream_gene_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 338 | 0.0030 | 11 | c.-44 others(22): Show |
ARRDC1 | ENSG00000197070.14 | transcript | ENST00000371421.9 | protein_coding | 4426 | chr9 | TogoVar | ||||||
ARRDC1_chr9_137600686_137620360 | 137601259 | A | ATATTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 338 | 0.0030 | 11 | c.-44 others(22): Show |
ARRDC1 | ENSG00000197070.14 | transcript | ENST00000371421.9 | protein_coding | 4426 | chr9 | TogoVar | ||||||
ARRDC4_chr15_97955703_97978833 | 97957254 | C | CAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 NA18992.hp1 NA18993.hp2 |
a0002 | a0002c0002a0002c0009 | a0002c0002t0003a0002c0009t0027 | a0002c0002t0003g0027a0002c0002t0003g0076a0002c0009t0027g0062 | 3 | 422 | 0.0071 | 11 | c.-36 others(22): Show |
ARRDC4 | ENSG00000140450.9 | transcript | ENST00000268042.7 | protein_coding | 3448 | chr15 | TogoVar | ||||||
ARRDC5_chr19_4885437_4907896 | 4886710 | A | ATTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 412 | 0.0024 | 11 | c.*43 others(22): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 3726 | chr19 | TogoVar | ||||||
ARRDC5_chr19_4885437_4907896 | 4894510 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03453.hp1 HG03516.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0132a0001c0004t0001g0025a0001c0004t0001g0027others(1): Show | 4 | 412 | 0.0097 | 11 | c.459 others(28): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 2/2 | chr19 | TogoVar | ||||||
ARRDC5_chr19_4885437_4907896 | 4898665 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00642.hp2 others(26): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0002a0001c0002t0002a0003c0005t0002 | a0001c0001t0002g0033a0001c0001t0002g0035a0001c0001t0002g0036others(24): Show | 29 | 412 | 0.0704 | 11 | c.254 others(28): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 1/2 | chr19 | TogoVar | ||||||
ARSA_chr22_50617754_50633152 | 50628180 | G | GCGGGGCG others(4): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0005 | 1 | 460 | 0.0022 | 11 | c.-40 others(20): Show |
ARSA | ENSG00000100299.18 | transcript | ENST00000216124.10 | protein_coding | 29 | chr22 | TogoVar | ||||||
ARSA_chr22_50617754_50633152 | 50628205 | G | GGGGGCGG others(4): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG00673.hp1 others(29): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0004a0001c0001t0033a0002c0002t0010others(1): Show | a0001c0001t0004g0004a0001c0001t0033g0046a0002c0002t0010g0041others(1): Show | 32 | 460 | 0.0696 | 11 | c.-42 others(20): Show |
ARSA | ENSG00000100299.18 | transcript | ENST00000216124.10 | protein_coding | 54 | chr22 | TogoVar | ||||||
ARSA_chr22_50617754_50633152 | 50628211 | G | GGGGCCGG others(4): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0005 | 1 | 460 | 0.0022 | 11 | c.-43 others(20): Show |
ARSA | ENSG00000100299.18 | transcript | ENST00000216124.10 | protein_coding | 60 | chr22 | TogoVar | ||||||
ARSB_chr5_78772209_78990310 | 78775210 | A | ATTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0331 | 1 | 360 | 0.0028 | 11 | c.*51 others(22): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 1998 | chr5 | TogoVar | ||||||
ARSB_chr5_78772209_78990310 | 78873498 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02055.hp1 others(19): Show |
a0001a0002 | a0001c0003a0001c0005a0001c0007others(2): Show | a0001c0003t0002a0001c0003t0003a0001c0003t0006others(14): Show | a0001c0003t0002g0074a0001c0003t0002g0082a0001c0003t0002g0320others(19): Show | 22 | 360 | 0.0611 | 11 | c.114 others(32): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 5/7 | chr5 | TogoVar | ||||||
ARSB_chr5_78772209_78990310 | 78911572 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0064 | 1 | 360 | 0.0028 | 11 | c.899 others(30): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 4/7 | chr5 | TogoVar | ||||||
ARSF_chrX_3036471_3117727 | 3037117 | A | AATATATA others(4): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG03471.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0168a0002c0004t0001g0181a0002c0004t0001g0182 | 3 | 193 | 0.0155 | 11 | c.-45 others(22): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4353 | chrX | TogoVar | ||||||
ARSG_chr17_68286495_68425814 | 68379421 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0011 | a0011c0022 | a0011c0022t0001 | a0011c0022t0001g0052 | 1 | 304 | 0.0033 | 11 | c.983 others(28): Show |
ARSG | ENSG00000141337.13 | transcript | ENST00000621439.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |