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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GTF2H1_chr11_18317567_18372045 | 18367855 | C | CAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 370 | 0.0027 | 18 | c.*19 others(29): Show |
GTF2H1 | ENSG00000110768.12 | transcript | ENST00000265963.9 | protein_coding | 811 | chr11 | TogoVar | |||||||
GTF2H1_chr11_18317567_18372045 | 18367880 | A | AAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101 | 1 | 370 | 0.0027 | 18 | c.*20 others(29): Show |
GTF2H1 | ENSG00000110768.12 | transcript | ENST00000265963.9 | protein_coding | 836 | chr11 | TogoVar | |||||||
GTF2IRD1_chr7_74448906_74607605 | 74558347 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00735.hp2 |
a0001a0002 | a0001c0016a0002c0003 | a0001c0016t0001a0002c0003t0003 | a0001c0016t0001g0249 a0002c0003t0003g0234 |
2 | 262 | 0.0076 | 18 | c.210 others(35): Show |
GTF2IRD1 | ENSG00000006704.11 | transcript | ENST00000424337.7 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GTF2IRD2B_chr7_75087590_75154817 | 75113781 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0046 | 1 | 170 | 0.0059 | 18 | c.238 others(35): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GTF2IRD2B_chr7_75087590_75154817 | 75151524 | G | GTTTTTTG others(11): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0147 | 1 | 170 | 0.0059 | 18 | c.*22 others(29): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1708 | chr7 | TogoVar | |||||||
GTF2I_chr7_74652718_74765692 | 74723428 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 174 | 0.0058 | 18 | c.943 others(35): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GTF2I_chr7_74652718_74765692 | 74761631 | T | TACACACA others(11): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 174 | 0.0058 | 18 | c.*21 others(29): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 940 | chr7 | TogoVar | |||||||
GTF3C3_chr2_196758035_196804683 | 196781342 | G | GAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03130.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 3 | 252 | 0.0119 | 18 | c.111 others(35): Show |
GTF3C3 | ENSG00000119041.11 | transcript | ENST00000263956.8 | protein_coding | 8/17 | chr2 | TogoVar | |||||||
GTF3C3_chr2_196758035_196804683 | 196781353 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 252 | 0.0040 | 18 | c.111 others(35): Show |
GTF3C3 | ENSG00000119041.11 | transcript | ENST00000263956.8 | protein_coding | 8/17 | chr2 | TogoVar | |||||||
GTF3C3_chr2_196758035_196804683 | 196781355 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 252 | 0.0040 | 18 | c.111 others(35): Show |
GTF3C3 | ENSG00000119041.11 | transcript | ENST00000263956.8 | protein_coding | 8/17 | chr2 | TogoVar | |||||||
GTF3C3_chr2_196758035_196804683 | 196781355 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01123.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0037 |
3 | 252 | 0.0119 | 18 | c.111 others(35): Show |
GTF3C3 | ENSG00000119041.11 | transcript | ENST00000263956.8 | protein_coding | 8/17 | chr2 | TogoVar | |||||||
GTF3C3_chr2_196758035_196804683 | 196781357 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03139.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0163 a0001c0001t0002g0215 |
2 | 252 | 0.0079 | 18 | c.111 others(35): Show |
GTF3C3 | ENSG00000119041.11 | transcript | ENST00000263956.8 | protein_coding | 8/17 | chr2 | TogoVar | |||||||
GTF3C3_chr2_196758035_196804683 | 196781357 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0007 | a0001c0007t0010 | a0001c0007t0010g0213 | 1 | 252 | 0.0040 | 18 | c.111 others(35): Show |
GTF3C3 | ENSG00000119041.11 | transcript | ENST00000263956.8 | protein_coding | 8/17 | chr2 | TogoVar | |||||||
GTF3C3_chr2_196758035_196804683 | 196781357 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 252 | 0.0040 | 18 | c.111 others(35): Show |
GTF3C3 | ENSG00000119041.11 | transcript | ENST00000263956.8 | protein_coding | 8/17 | chr2 | TogoVar | |||||||
GTPBP10_chr7_90341716_90396453 | 90372482 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0003 | a0003c0003t0030 | a0003c0003t0030g0060 | 1 | 390 | 0.0026 | 18 | c.538 others(33): Show |
GTPBP10 | ENSG00000105793.16 | transcript | ENST00000222511.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GTPBP1_chr22_38700944_38738587 | 38704273 | G | GTTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0150 | 1 | 382 | 0.0026 | 18 | c.-16 others(29): Show |
GTPBP1 | ENSG00000100226.16 | transcript | ENST00000216044.10 | protein_coding | 1670 | chr22 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 315685 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0137 | 1 | 155 | 0.0065 | 18 | c.488 others(33): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 315685 | T | TACACACG others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(32): Show |
a0001a0002a0003others(8): Show | a0001c0003a0002c0002a0002c0005others(12): Show | a0001c0003t0003a0002c0002t0001a0002c0002t0002others(14): Show | a0001c0003t0003g0112 a0002c0002t0001g0068 a0002c0002t0001g0110 others(32): Show |
35 | 155 | 0.2258 | 18 | c.488 others(33): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
GTSE1_chr22_46291870_46335810 | 46333632 | G | GACATCAT others(11): Show |
downstream_gene_variant | MODIFIER | HG01169.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0147 | 1 | 200 | 0.0050 | 18 | c.*35 others(29): Show |
GTSE1 | ENSG00000075218.19 | transcript | ENST00000454366.2 | protein_coding | 2823 | chr22 | TogoVar | |||||||
GUCA1ANB_chr6_42150406_42168418 | 42167665 | C | CTTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 HG02886.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 a0001c0001t0001g0149 a0001c0001t0001g0226 |
3 | 450 | 0.0067 | 18 | c.*44 others(29): Show |
GUCA1ANB | ENSG00000287363.4 | transcript | ENST00000623004.2 | protein_coding | 4248 | chr6 | TogoVar | |||||||
GUCA1A_chr6_42168364_42185056 | 42182474 | A | ATATACAT others(11): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 HG03130.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 3 | 412 | 0.0073 | 18 | c.*30 others(29): Show |
GUCA1A | ENSG00000048545.18 | transcript | ENST00000372958.2 | protein_coding | 2419 | chr6 | TogoVar | |||||||
GUCA1B_chr6_42178284_42199956 | 42182474 | A | ATATACAT others(11): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 HG03130.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0015 | 3 | 418 | 0.0072 | 18 | c.*23 others(29): Show |
GUCA1B | ENSG00000112599.9 | transcript | ENST00000230361.4 | protein_coding | 809 | chr6 | TogoVar | |||||||
GUCA1C_chr3_108902792_108958879 | 108912103 | C | CAATAATA others(11): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp2 others(59): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0004others(5): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(5): Show | a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0089 others(57): Show |
62 | 374 | 0.1658 | 18 | c.443 others(35): Show |
GUCA1C | ENSG00000138472.11 | transcript | ENST00000261047.8 | protein_coding | 3/3 | chr3 | TogoVar | |||||||
GUCA1C_chr3_108902792_108958879 | 108912122 | A | AATAATAA others(11): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0313 | 1 | 374 | 0.0027 | 18 | c.443 others(35): Show |
GUCA1C | ENSG00000138472.11 | transcript | ENST00000261047.8 | protein_coding | 3/3 | chr3 | TogoVar | |||||||
GUCA1C_chr3_108902792_108958879 | 108939324 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00609.hp2 others(11): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0301 a0001c0001t0001g0308 a0001c0001t0001g0309 others(11): Show |
14 | 374 | 0.0374 | 18 | c.204 others(37): Show |
GUCA1C | ENSG00000138472.11 | transcript | ENST00000261047.8 | protein_coding | 1/3 | chr3 | TogoVar | |||||||
GUCA1C_chr3_108902792_108958879 | 108955590 | T | TAAAAAAA others(11): Show |
upstream_gene_variant | MODIFIER | NA19058.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0280 | 1 | 374 | 0.0027 | 18 | c.-18 others(29): Show |
GUCA1C | ENSG00000138472.11 | transcript | ENST00000261047.8 | protein_coding | 1712 | chr3 | TogoVar | |||||||
GUCA2A_chr1_42157690_42169745 | 42166115 | A | AGTGTGTG others(11): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0029 | 1 | 436 | 0.0023 | 18 | c.-14 others(29): Show |
GUCA2A | ENSG00000197273.4 | transcript | ENST00000357001.3 | protein_coding | 1371 | chr1 | TogoVar | |||||||
GUCA2B_chr1_42148410_42160820 | 42159195 | C | CAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 442 | 0.0023 | 18 | c.*35 others(29): Show |
GUCA2B | ENSG00000044012.4 | transcript | ENST00000372581.2 | protein_coding | 3376 | chr1 | TogoVar | |||||||
GUCD1_chr22_24535438_24560138 | 24559476 | A | ACTTGCTG others(11): Show |
upstream_gene_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 414 | 0.0024 | 18 | c.-45 others(29): Show |
GUCD1 | ENSG00000138867.17 | transcript | ENST00000435822.6 | protein_coding | 4339 | chr22 | TogoVar | |||||||
GUCY1A2_chr11_106669019_107023476 | 106709684 | A | ACACGTAT others(11): Show |
intron_variant | MODIFIER | HG02132.hp1 NA18952.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0072a0001c0006t0006 | a0001c0001t0072g0090 a0001c0006t0006g0216 |
2 | 256 | 0.0078 | 18 | c.183 others(37): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | |||||||
GUCY1A2_chr11_106669019_107023476 | 106709855 | A | ACACGTAT others(11): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 256 | 0.0039 | 18 | c.183 others(37): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | |||||||
GUCY1A2_chr11_106669019_107023476 | 106730059 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG01169.hp2 HG04199.hp2 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0004a0001c0007t0042 | a0001c0002t0004g0182 a0001c0007t0042g0128 |
2 | 256 | 0.0078 | 18 | c.183 others(39): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | |||||||
GUCY1A2_chr11_106669019_107023476 | 106909355 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG01071.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0069others(7): Show | a0001c0001t0002g0050 a0001c0001t0012g0103 a0001c0001t0069g0096 others(10): Show |
13 | 256 | 0.0508 | 18 | c.120 others(39): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 4/7 | chr11 | TogoVar | |||||||
GUCY1A2_chr11_106669019_107023476 | 106944215 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00438.hp2 HG03540.hp2 NA19064.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0009 | a0001c0001t0001g0080 a0001c0001t0001g0097 a0001c0005t0009g0168 |
3 | 256 | 0.0117 | 18 | c.488 others(35): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 3/7 | chr11 | TogoVar | |||||||
GUCY1B1_chr4_155754021_155812811 | 155797735 | A | AAATAATA others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00642.hp2 others(37): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(2): Show | a0001c0001t0001g0035 a0001c0001t0001g0080 a0001c0001t0001g0083 others(34): Show |
40 | 364 | 0.1099 | 18 | c.977 others(35): Show |
GUCY1B1 | ENSG00000061918.14 | transcript | ENST00000264424.13 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GUF1_chr4_44673420_44705928 | 44694572 | T | TCAAAAAA others(11): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0051 | 1 | 390 | 0.0026 | 18 | c.171 others(33): Show |
GUF1 | ENSG00000151806.14 | transcript | ENST00000281543.6 | protein_coding | 14/16 | chr4 | TogoVar | |||||||
GULP1_chr2_188286874_188600926 | 188352618 | T | TCACACAC others(11): Show |
intron_variant | MODIFIER | HG01192.hp1 HG03139.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0034 a0001c0001t0008g0035 a0001c0001t0008g0036 |
3 | 162 | 0.0185 | 18 | c.-17 others(39): Show |
GULP1 | ENSG00000144366.17 | transcript | ENST00000409830.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GULP1_chr2_188286874_188600926 | 188352618 | T | TCTCACAC others(11): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0066 | 1 | 162 | 0.0062 | 18 | c.-17 others(39): Show |
GULP1 | ENSG00000144366.17 | transcript | ENST00000409830.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GULP1_chr2_188286874_188600926 | 188368939 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG02015.hp2 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0141 a0001c0001t0009g0023 |
2 | 162 | 0.0124 | 18 | c.-17 others(39): Show |
GULP1 | ENSG00000144366.17 | transcript | ENST00000409830.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GXYLT1_chr12_42076845_42149874 | 42098760 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG01106.hp2 others(9): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0002t0004a0001c0003t0001others(2): Show | a0001c0002t0003g0089 a0001c0002t0003g0177 a0001c0002t0003g0192 others(9): Show |
12 | 398 | 0.0302 | 18 | c.865 others(33): Show |
GXYLT1 | ENSG00000151233.11 | transcript | ENST00000398675.8 | protein_coding | 5/7 | chr12 | TogoVar | |||||||
GXYLT1_chr12_42076845_42149874 | 42139262 | T | TTTCTCCT others(11): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03098.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0084 a0001c0001t0016g0085 a0001c0001t0016g0086 |
3 | 398 | 0.0075 | 18 | c.221 others(35): Show |
GXYLT1 | ENSG00000151233.11 | transcript | ENST00000398675.8 | protein_coding | 1/7 | chr12 | TogoVar | |||||||
GXYLT2_chr3_72883046_72981915 | 72954399 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG02055.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0001g0051 a0001c0001t0003g0060 a0001c0001t0003g0260 others(9): Show |
12 | 296 | 0.0405 | 18 | c.601 others(33): Show |
GXYLT2 | ENSG00000172986.13 | transcript | ENST00000389617.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GYG1_chr3_148986540_149036775 | 149012997 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02109.hp1 HG02258.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0014a0001c0001t0016a0001c0001t0035others(3): Show | a0001c0001t0014g0150 a0001c0001t0014g0152 a0001c0001t0016g0306 others(4): Show |
7 | 414 | 0.0169 | 18 | c.608 others(35): Show |
GYG1 | ENSG00000163754.18 | transcript | ENST00000345003.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GYG2_chrX_2823930_2887818 | 2845076 | T | TACACATG others(11): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03486.hp2 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0006 | a0002c0002t0003g0132 a0002c0002t0006g0017 |
2 | 316 | 0.0063 | 18 | c.149 others(35): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GYG2_chrX_2823930_2887818 | 2845521 | A | ATATTTAT others(11): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0221 | 1 | 316 | 0.0032 | 18 | c.149 others(35): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GYG2_chrX_2823930_2887818 | 2845551 | A | ATATACAC others(11): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02559.hp1 NA18906.hp1 |
a0001a0002 | a0001c0003a0002c0006 | a0001c0003t0001a0002c0006t0003a0002c0006t0005 | a0001c0003t0001g0030 a0002c0006t0003g0120 a0002c0006t0005g0119 |
3 | 316 | 0.0095 | 18 | c.149 others(35): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GYS1_chr19_48963130_48998309 | 48978530 | T | TTTATTAT others(11): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02647.hp2 HG02965.hp1 others(2): Show |
a0001 | a0001c0001a0001c0007a0001c0010others(1): Show | a0001c0001t0001a0001c0007t0006a0001c0010t0008others(1): Show | a0001c0001t0001g0105 a0001c0007t0006g0063 a0001c0010t0008g0030 others(2): Show |
5 | 390 | 0.0128 | 18 | c.117 others(35): Show |
GYS1 | ENSG00000104812.15 | transcript | ENST00000323798.8 | protein_coding | 8/15 | chr19 | TogoVar | |||||||
GZMK_chr5_55019256_55039570 | 55022321 | C | CCACACAC others(11): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00735.hp1 HG01071.hp1 others(39): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 others(21): Show |
42 | 464 | 0.0905 | 18 | c.-20 others(29): Show |
GZMK | ENSG00000113088.6 | transcript | ENST00000231009.3 | protein_coding | 1934 | chr5 | TogoVar | |||||||
H1-8_chr3_129538175_129556467 | 129549599 | G | GTGGTCAT others(11): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01496.hp1 HG02055.hp1 others(9): Show |
a0004 | a0004c0006a0004c0010 | a0004c0006t0001a0004c0006t0002a0004c0010t0002 | a0004c0006t0001g0007 a0004c0006t0001g0068 a0004c0006t0002g0007 others(1): Show |
12 | 422 | 0.0284 | 18 | c.742 others(33): Show |
H1-8 | ENSG00000178804.8 | transcript | ENST00000324382.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
H2AB2_chrX_155375709_155386299 | 155384120 | A | ATTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00609.hp1 others(31): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0000 a0002c0002t0001g0000 |
34 | 229 | 0.1485 | 18 | c.*29 others(29): Show |
H2AB2 | ENSG00000277858.2 | transcript | ENST00000354514.6 | protein_coding | 2822 | chrX | TogoVar |