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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HIP1_chr7_75528298_75743941 | 75595235 | T | TCTTCCTT others(17): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 254 | 0.0039 | 24 | c.185 others(41): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 2/30 | chr7 | TogoVar | |||||||
HIP1_chr7_75528298_75743941 | 75616584 | G | GGGAGGAG others(17): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050 | 1 | 254 | 0.0039 | 24 | c.121 others(43): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | |||||||
HIP1_chr7_75528298_75743941 | 75663984 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0208 | 1 | 254 | 0.0039 | 24 | c.121 others(43): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | |||||||
HIPK2_chr7_139556570_139782998 | 139638656 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0119 | 1 | 154 | 0.0065 | 24 | c.110 others(43): Show |
HIPK2 | ENSG00000064393.16 | transcript | ENST00000406875.8 | protein_coding | 2/14 | chr7 | TogoVar | |||||||
HIPK3_chr11_33252381_33362023 | 33301821 | G | GACACACA others(17): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02572.hp1 HG03688.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0020 | a0001c0001t0001g0012 a0001c0001t0001g0110 a0001c0001t0001g0129 others(7): Show |
10 | 342 | 0.0292 | 24 | c.109 others(45): Show |
HIPK3 | ENSG00000110422.12 | transcript | ENST00000303296.9 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HIPK3_chr11_33252381_33362023 | 33310281 | T | TATCTTAT others(17): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01070.hp2 HG01071.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0012 | a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0004g0207 others(1): Show |
4 | 342 | 0.0117 | 24 | c.109 others(45): Show |
HIPK3 | ENSG00000110422.12 | transcript | ENST00000303296.9 | protein_coding | 2/16 | chr11 | TogoVar | |||||||
HIPK3_chr11_33252381_33362023 | 33310281 | T | TTATCTAT others(17): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01256.hp2 HG01433.hp1 others(16): Show |
a0001a0006 | a0001c0001a0006c0005 | a0001c0001t0001a0001c0001t0004a0006c0005t0004 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 others(16): Show |
19 | 342 | 0.0556 | 24 | c.109 others(45): Show |
HIPK3 | ENSG00000110422.12 | transcript | ENST00000303296.9 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HIPK3_chr11_33252381_33362023 | 33311975 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 342 | 0.0029 | 24 | c.109 others(45): Show |
HIPK3 | ENSG00000110422.12 | transcript | ENST00000303296.9 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HIRA_chr22_19325698_19436733 | 19422197 | C | CACACACA others(17): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0341 | 1 | 364 | 0.0028 | 24 | c.37+ others(39): Show |
HIRA | ENSG00000100084.14 | transcript | ENST00000263208.5 | protein_coding | 1/24 | chr22 | TogoVar | |||||||
HIVEP1_chr6_12007312_12169999 | 12046845 | C | CTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG00741.hp2 HG03490.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0084 a0003c0003t0001g0083 |
2 | 344 | 0.0058 | 24 | c.40+ others(41): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HIVEP1_chr6_12007312_12169999 | 12051016 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0009 | a0009c0016 | a0009c0016t0001 | a0009c0016t0001g0202 | 1 | 344 | 0.0029 | 24 | c.40+ others(41): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HIVEP1_chr6_12007312_12169999 | 12074643 | T | TGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02698.hp2 HG03490.hp1 |
a0002a0011 | a0002c0002a0011c0020 | a0002c0002t0001a0011c0020t0001 | a0002c0002t0001g0093 a0002c0002t0001g0095 a0011c0020t0001g0094 |
3 | 344 | 0.0087 | 24 | c.41- others(41): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
HIVEP1_chr6_12007312_12169999 | 12099183 | G | GGTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03139.hp2 NA18522.hp1 |
a0006a0031 | a0006c0009a0031c0030 | a0006c0009t0001a0031c0030t0001 | a0006c0009t0001g0076 a0006c0009t0001g0253 a0031c0030t0001g0198 |
3 | 344 | 0.0087 | 24 | c.94+ others(39): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 3/8 | chr6 | TogoVar | |||||||
HIVEP3_chr1_41501365_41923922 | 41526626 | C | CCTCACAC others(17): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0004 | a0004c0029 | a0004c0029t0061 | a0004c0029t0061g0071 | 1 | 134 | 0.0075 | 24 | c.520 others(43): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
HIVEP3_chr1_41501365_41923922 | 41638256 | G | GAGAAAGA others(17): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0006 | a0006c0031 | a0006c0031t0010 | a0006c0031t0010g0073 | 1 | 134 | 0.0075 | 24 | c.-72 others(43): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
HIVEP3_chr1_41501365_41923922 | 41665707 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01109.hp1 HG01261.hp1 others(4): Show |
a0001a0002a0007others(2): Show | a0001c0003a0001c0028a0002c0002others(3): Show | a0001c0003t0002a0001c0028t0080a0002c0002t0045others(3): Show | a0001c0003t0002g0066 a0001c0028t0080g0063 a0002c0002t0045g0015 others(4): Show |
7 | 134 | 0.0522 | 24 | c.-72 others(45): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
HIVEP3_chr1_41501365_41923922 | 41749404 | T | TTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG04204.hp1 NA19057.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0002a0002c0002t0033 | a0001c0003t0002g0066 a0002c0002t0033g0132 |
2 | 134 | 0.0149 | 24 | c.-80 others(45): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
HK1_chr10_69273496_69406882 | 69276118 | A | AAAAAAAA others(17): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0025 | 1 | 280 | 0.0036 | 24 | c.-28 others(35): Show |
HK1 | ENSG00000156515.25 | transcript | ENST00000643399.2 | protein_coding | 2377 | chr10 | TogoVar | |||||||
HK1_chr10_69273496_69406882 | 69276118 | A | AAAAAATA others(17): Show |
upstream_gene_variant | MODIFIER | HG02056.hp2 HG02132.hp1 HG02300.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0002t0002g0023 |
3 | 280 | 0.0107 | 24 | c.-28 others(35): Show |
HK1 | ENSG00000156515.25 | transcript | ENST00000643399.2 | protein_coding | 2377 | chr10 | TogoVar | |||||||
HK1_chr10_69273496_69406882 | 69276118 | A | AAAATATA others(17): Show |
upstream_gene_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0071 | 1 | 280 | 0.0036 | 24 | c.-28 others(35): Show |
HK1 | ENSG00000156515.25 | transcript | ENST00000643399.2 | protein_coding | 2377 | chr10 | TogoVar | |||||||
HK1_chr10_69273496_69406882 | 69276138 | T | TATATATA others(17): Show |
upstream_gene_variant | MODIFIER | HG02293.hp2 NA18956.hp1 NA19057.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0062 a0001c0001t0002g0134 a0001c0002t0002g0121 |
3 | 280 | 0.0107 | 24 | c.-28 others(35): Show |
HK1 | ENSG00000156515.25 | transcript | ENST00000643399.2 | protein_coding | 2357 | chr10 | TogoVar | |||||||
HK2_chr2_74829127_74898359 | 74882605 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG01070.hp2 others(17): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0001c0030others(3): Show | a0001c0001t0002a0001c0001t0008a0001c0006t0003others(6): Show | a0001c0001t0002g0037 a0001c0001t0002g0191 a0001c0001t0008g0311 others(17): Show |
20 | 394 | 0.0508 | 24 | c.183 others(41): Show |
HK2 | ENSG00000159399.10 | transcript | ENST00000290573.7 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HK2_chr2_74829127_74898359 | 74885845 | A | AACACACA others(17): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0128 | 1 | 394 | 0.0025 | 24 | c.193 others(41): Show |
HK2 | ENSG00000159399.10 | transcript | ENST00000290573.7 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HLA-A_chr6_29937532_29950870 | 29949597 | T | TTATTTAT others(17): Show |
downstream_gene_variant | MODIFIER | HG03710.hp1 NA18953.hp1 |
a0005 | a0005c0005 | a0005c0005t0003 | a0005c0005t0003g0003 | 2 | 418 | 0.0048 | 24 | c.*41 others(35): Show |
HLA-A | ENSG00000206503.14 | transcript | ENST00000376809.10 | protein_coding | 3728 | chr6 | TogoVar | |||||||
HLA-A_chr6_29937532_29950870 | 29949602 | C | CATGTATG others(17): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00609.hp2 others(48): Show |
a0001a0015a0031others(1): Show | a0001c0001a0015c0015a0031c0031others(1): Show | a0001c0001t0002a0015c0015t0002a0031c0031t0002others(1): Show | a0001c0001t0002g0002 a0001c0001t0002g0027 a0015c0015t0002g0002 others(2): Show |
51 | 418 | 0.1220 | 24 | c.*41 others(35): Show |
HLA-A | ENSG00000206503.14 | transcript | ENST00000376809.10 | protein_coding | 3733 | chr6 | TogoVar | |||||||
HLA-DQA1_chr6_32632406_32648684 | 32640504 | T | TTTAATTT others(17): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0006 | a0006c0007 | a0006c0007t0005 | a0006c0007t0005g0025 | 1 | 86 | 0.0116 | 24 | c.83- others(37): Show |
HLA-DQA1 | ENSG00000196735.13 | transcript | ENST00000343139.11 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
HLA-DQB1_chr6_32654467_32671657 | 32655380 | A | AAGATCTT others(17): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp2 others(168): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0002a0002c0017others(5): Show | a0001c0001t0006a0001c0001t0012a0001c0001t0014others(10): Show | a0001c0001t0006g0003 a0001c0001t0006g0017 a0001c0001t0012g0014 others(22): Show |
171 | 402 | 0.4254 | 24 | c.*48 others(35): Show |
HLA-DQB1 | ENSG00000179344.17 | transcript | ENST00000434651.7 | protein_coding | 4086 | chr6 | TogoVar | |||||||
HLA-DRA_chr6_32434887_32450046 | 32439070 | T | TAAAAAAA others(17): Show |
upstream_gene_variant | MODIFIER | NA18968.hp2 NA19088.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003 | 2 | 459 | 0.0044 | 24 | c.-88 others(33): Show |
HLA-DRA | ENSG00000204287.14 | transcript | ENST00000395388.7 | protein_coding | 816 | chr6 | TogoVar | |||||||
HLA-DRB1_chr6_32573775_32594848 | 32584015 | T | TCACACAC others(17): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0016 | a0016c0018 | a0016c0018t0008 | a0016c0018t0008g0041 | 1 | 208 | 0.0048 | 24 | c.370 others(37): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 2/5 | chr6 | TogoVar | |||||||
HLA-DRB1_chr6_32573775_32594848 | 32584017 | T | TCACACAC others(17): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0016 | a0016c0018 | a0016c0018t0008 | a0016c0018t0008g0040 | 1 | 208 | 0.0048 | 24 | c.370 others(37): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 2/5 | chr6 | TogoVar | |||||||
HLA-DRB1_chr6_32573775_32594848 | 32584017 | T | TCTCACAC others(17): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02615.hp2 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0022 | 2 | 208 | 0.0096 | 24 | c.370 others(37): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 2/5 | chr6 | TogoVar | |||||||
HLA-DRB1_chr6_32573775_32594848 | 32584017 | T | TCTCTCAC others(17): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0048 | 1 | 208 | 0.0048 | 24 | c.370 others(37): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 2/5 | chr6 | TogoVar | |||||||
HLA-F_chr6_29718434_29732296 | 29722746 | G | GAGAAGAA others(17): Show |
upstream_gene_variant | MODIFIER | NA18943.hp2 NA18944.hp1 NA19055.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 3 | 443 | 0.0068 | 24 | c.-71 others(33): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 687 | chr6 | TogoVar | |||||||
HLA-F_chr6_29718434_29732296 | 29722768 | G | GGAAGAAG others(17): Show |
upstream_gene_variant | MODIFIER | HG02293.hp1 NA18956.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 443 | 0.0045 | 24 | c.-69 others(33): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 665 | chr6 | TogoVar | |||||||
HLA-F_chr6_29718434_29732296 | 29722768 | G | GGAAGAGG others(17): Show |
upstream_gene_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 443 | 0.0023 | 24 | c.-69 others(33): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 665 | chr6 | TogoVar | |||||||
HLA-F_chr6_29718434_29732296 | 29722774 | G | GGAAGAAG others(17): Show |
upstream_gene_variant | MODIFIER | NA18997.hp2 NA19068.hp1 NA19079.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 |
3 | 443 | 0.0068 | 24 | c.-69 others(33): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 659 | chr6 | TogoVar | |||||||
HLA-F_chr6_29718434_29732296 | 29722795 | A | AGAAGAGG others(17): Show |
upstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 443 | 0.0045 | 24 | c.-66 others(33): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 638 | chr6 | TogoVar | |||||||
HLA-F_chr6_29718434_29732296 | 29722801 | A | AGAAGAGG others(17): Show |
upstream_gene_variant | MODIFIER | NA18939.hp2 NA18987.hp2 NA19007.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 4 | 443 | 0.0090 | 24 | c.-66 others(33): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 632 | chr6 | TogoVar | |||||||
HLA-F_chr6_29718434_29732296 | 29722804 | A | AGAAGAGG others(17): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 HG02258.hp1 HG02630.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0012 |
4 | 443 | 0.0090 | 24 | c.-66 others(33): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 629 | chr6 | TogoVar | |||||||
HLA-F_chr6_29718434_29732296 | 29722807 | A | AGAAGAAG others(17): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0019 |
2 | 443 | 0.0045 | 24 | c.-65 others(33): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 626 | chr6 | TogoVar | |||||||
HLA-F_chr6_29718434_29732296 | 29722807 | A | AGAAGAGG others(17): Show |
upstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 443 | 0.0023 | 24 | c.-65 others(33): Show |
HLA-F | ENSG00000204642.14 | transcript | ENST00000259951.12 | protein_coding | 626 | chr6 | TogoVar | |||||||
HLA-G_chr6_29822825_29836021 | 29831449 | T | TTTTTTTT others(17): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG01358.hp1 HG01433.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 a0001c0001t0003g0008 |
5 | 479 | 0.0104 | 24 | c.*71 others(33): Show |
HLA-G | ENSG00000204632.13 | transcript | ENST00000360323.11 | protein_coding | 429 | chr6 | TogoVar | |||||||
HLCS_chr21_36743626_36971669 | 36771219 | C | CAAATAAA others(17): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0189 | 1 | 258 | 0.0039 | 24 | c.189 others(43): Show |
HLCS | ENSG00000159267.17 | transcript | ENST00000674895.3 | protein_coding | 6/10 | chr21 | TogoVar | |||||||
HLCS_chr21_36743626_36971669 | 36793295 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0031a0001c0001t0073 | a0001c0001t0031g0245 a0001c0001t0073g0246 |
2 | 258 | 0.0078 | 24 | c.189 others(45): Show |
HLCS | ENSG00000159267.17 | transcript | ENST00000674895.3 | protein_coding | 6/10 | chr21 | TogoVar | |||||||
HLCS_chr21_36743626_36971669 | 36823610 | G | GGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG03669.hp2 NA18942.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0160 a0001c0001t0005g0056 |
2 | 258 | 0.0078 | 24 | c.189 others(45): Show |
HLCS | ENSG00000159267.17 | transcript | ENST00000674895.3 | protein_coding | 6/10 | chr21 | TogoVar | |||||||
HLCS_chr21_36743626_36971669 | 36868192 | G | GAAGGGAA others(17): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00735.hp1 others(82): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(63): Show | a0001c0001t0001g0010 a0001c0001t0002g0165 a0001c0001t0002g0174 others(82): Show |
85 | 258 | 0.3295 | 24 | c.189 others(45): Show |
HLCS | ENSG00000159267.17 | transcript | ENST00000674895.3 | protein_coding | 6/10 | chr21 | TogoVar | |||||||
HLCS_chr21_36743626_36971669 | 36868274 | G | GGAAAGAA others(17): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02965.hp2 HG03209.hp2 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0109a0002c0002t0062a0003c0005t0092 | a0001c0001t0109g0119 a0002c0002t0062g0145 a0003c0005t0092g0134 |
3 | 258 | 0.0116 | 24 | c.189 others(45): Show |
HLCS | ENSG00000159267.17 | transcript | ENST00000674895.3 | protein_coding | 6/10 | chr21 | TogoVar | |||||||
HLCS_chr21_36743626_36971669 | 36868274 | G | GGAAGGAA others(17): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0004 | a0001c0004t0068 | a0001c0004t0068g0088 | 1 | 258 | 0.0039 | 24 | c.189 others(45): Show |
HLCS | ENSG00000159267.17 | transcript | ENST00000674895.3 | protein_coding | 6/10 | chr21 | TogoVar | |||||||
HMBOX1_chr8_28885395_29058262 | 28973803 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0051 | 1 | 344 | 0.0029 | 24 | c.500 others(41): Show |
HMBOX1 | ENSG00000147421.18 | transcript | ENST00000287701.15 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HMBOX1_chr8_28885395_29058262 | 29003555 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01243.hp1 HG01358.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0148 a0001c0001t0001g0253 a0001c0001t0001g0261 others(9): Show |
12 | 344 | 0.0349 | 24 | c.587 others(41): Show |
HMBOX1 | ENSG00000147421.18 | transcript | ENST00000287701.15 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |