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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGMO_chr7_15195317_15567015 | 15531535 | C | CTATATAT others(4): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02486.hp1 others(2): Show |
a0001a0006 | a0001c0001a0006c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0183a0001c0001t0002g0192a0001c0001t0003g0182others(2): Show | 5 | 236 | 0.0212 | 11 | c.409 others(30): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15531598 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02976.hp1 |
a0001a0010 | a0001c0001a0010c0021 | a0001c0001t0003a0010c0021t0001 | a0001c0001t0003g0043a0010c0021t0001g0042 | 2 | 236 | 0.0085 | 11 | c.409 others(30): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
AGO3_chr1_35926105_36077500 | 36003694 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02257.hp1 HG02630.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0064a0001c0001t0003g0073a0001c0001t0003g0122others(1): Show | 4 | 258 | 0.0155 | 11 | c.659 others(26): Show |
AGO3 | ENSG00000126070.20 | transcript | ENST00000373191.9 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AGO3_chr1_35926105_36077500 | 36003709 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0110 | 1 | 258 | 0.0039 | 11 | c.659 others(26): Show |
AGO3 | ENSG00000126070.20 | transcript | ENST00000373191.9 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AGPAT2_chr9_136668143_136692457 | 136686641 | A | AAGAGGAA others(4): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0068 | 1 | 374 | 0.0027 | 11 | c.182 others(26): Show |
AGPAT2 | ENSG00000169692.14 | transcript | ENST00000371696.7 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
AGPAT4_chr6_161124967_161279061 | 161268780 | G | GTCCATAT others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00735.hp2 others(84): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(44): Show | a0001c0001t0001g0132a0001c0001t0001g0159a0001c0001t0001g0245others(83): Show | 87 | 264 | 0.3296 | 11 | c.-90 others(28): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 1/8 | chr6 | TogoVar | ||||||
AGPAT5_chr8_6703642_6766503 | 6746075 | C | CTTTCTTT others(4): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0222 | 1 | 404 | 0.0025 | 11 | c.587 others(28): Show |
AGPAT5 | ENSG00000155189.12 | transcript | ENST00000285518.11 | protein_coding | 5/7 | chr8 | TogoVar | ||||||
AGPAT5_chr8_6703642_6766503 | 6746075 | C | CTTTCTTT others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(283): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0007others(221): Show | 286 | 404 | 0.7079 | 11 | c.587 others(28): Show |
AGPAT5 | ENSG00000155189.12 | transcript | ENST00000285518.11 | protein_coding | 5/7 | chr8 | TogoVar | ||||||
AGPAT5_chr8_6703642_6766503 | 6762132 | T | TAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 404 | 0.0025 | 11 | c.*47 others(22): Show |
AGPAT5 | ENSG00000155189.12 | transcript | ENST00000285518.11 | protein_coding | 630 | chr8 | TogoVar | ||||||
AGPS_chr2_177387773_177548834 | 177406131 | C | CGACTCTC others(4): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 258 | 0.0039 | 11 | c.260 others(30): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGPS_chr2_177387773_177548834 | 177436139 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01361.hp1 HG02055.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(2): Show | a0001c0001t0001g0092a0001c0001t0001g0094a0001c0001t0001g0096others(11): Show | 14 | 258 | 0.0543 | 11 | c.442 others(26): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGRN_chr1_1015120_1061116 | 1053279 | T | TCGTGTCC others(4): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG02451.hp1 others(17): Show |
a0001a0003a0009others(3): Show | a0001c0012a0001c0013a0001c0024others(11): Show | a0001c0012t0006a0001c0012t0017a0001c0013t0008others(13): Show | a0001c0012t0006g0056a0001c0012t0006g0163a0001c0012t0017g0145others(17): Show | 20 | 210 | 0.0952 | 11 | c.565 others(28): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 33/35 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AGTPBP1_chr9_85541539_85746954 | 85572004 | G | GTGTTTTT others(4): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0237 | 1 | 302 | 0.0033 | 11 | c.350 others(30): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 25/25 | chr9 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85689921 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 302 | 0.0033 | 11 | c.157 others(28): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 3/25 | chr9 | TogoVar | ||||||
AGT_chr1_230697523_230719122 | 230701148 | T | TGTGTGTG others(4): Show |
downstream_gene_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 456 | 0.0022 | 11 | c.*19 others(22): Show |
AGT | ENSG00000135744.9 | transcript | ENST00000366667.6 | protein_coding | 1374 | chr1 | TogoVar | ||||||
AGXT2_chr5_34993102_35052949 | 35041223 | C | CGAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01175.hp1 NA18940.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0004a0003c0006t0002 | a0001c0001t0001g0190a0001c0001t0001g0215a0001c0001t0001g0216others(5): Show | 8 | 384 | 0.0208 | 11 | c.89- others(24): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 1/13 | chr5 | TogoVar | ||||||
AGXT_chr2_240863824_240885500 | 240880574 | C | CTTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG01175.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0019 | a0001c0001t0002g0002a0001c0001t0002g0021a0001c0001t0002g0022others(4): Show | 10 | 444 | 0.0225 | 11 | c.*17 others(22): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 75 | chr2 | TogoVar | ||||||
AGXT_chr2_240863824_240885500 | 240883694 | C | CTTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG03516.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0033 | 2 | 444 | 0.0045 | 11 | c.*48 others(22): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 3195 | chr2 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246834474 | C | CTTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 HG01175.hp2 HG01243.hp2 others(8): Show |
a0001a0002 | a0001c0004a0001c0007a0002c0008 | a0001c0004t0002a0001c0004t0012a0001c0007t0001others(1): Show | a0001c0004t0002g0167a0001c0004t0002g0253a0001c0004t0002g0291others(8): Show | 11 | 376 | 0.0293 | 11 | c.*63 others(22): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 4623 | chr1 | TogoVar | ||||||
AHCYL1_chr1_109979765_110028742 | 110026029 | C | CTTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG02486.hp1 HG02717.hp2 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0004a0001c0001t0005a0003c0005t0005 | a0001c0001t0004g0106a0001c0001t0005g0046a0003c0005t0005g0048 | 3 | 350 | 0.0086 | 11 | c.*43 others(22): Show |
AHCYL1 | ENSG00000168710.18 | transcript | ENST00000369799.10 | protein_coding | 2288 | chr1 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129280178 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(110): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0013others(110): Show | 113 | 292 | 0.3870 | 11 | c.363 others(30): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHDC1_chr1_27529245_27609144 | 27538400 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02258.hp1 HG02258.hp2 others(8): Show |
a0001a0003a0011 | a0001c0001a0003c0004a0011c0022 | a0001c0001t0001a0001c0001t0003a0003c0004t0001others(2): Show | a0001c0001t0001g0086a0001c0001t0001g0087a0001c0001t0001g0165others(7): Show | 11 | 180 | 0.0611 | 11 | c.*44 others(28): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 8/8 | chr1 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135383226 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02818.hp1 HG02922.hp2 others(8): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0013others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0002g0172a0001c0001t0003g0118a0001c0001t0003g0177others(8): Show | 11 | 220 | 0.0500 | 11 | c.310 others(32): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135472018 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01258.hp2 HG01516.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0133a0001c0001t0001g0136a0001c0001t0001g0141others(5): Show | 8 | 220 | 0.0364 | 11 | c.136 others(28): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 5/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135482894 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01891.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0003t0002a0001c0003t0004 | a0001c0001t0005g0195a0001c0003t0002g0219a0001c0003t0004g0008others(1): Show | 4 | 220 | 0.0182 | 11 | c.135 others(28): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 5/28 | chr6 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 318115 | A | ACCTCCCC others(4): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG01891.hp1 HG02886.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0001c0001t0013a0001c0001t0027others(2): Show | a0001c0001t0001g0152a0001c0001t0001g0156a0001c0001t0013g0154others(3): Show | 6 | 268 | 0.0224 | 11 | c.-37 others(22): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3598 | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 340688 | A | ATATTTTT others(4): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0209 | 1 | 268 | 0.0037 | 11 | c.-10 others(28): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 340689 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0219 | 1 | 268 | 0.0037 | 11 | c.-10 others(28): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 344840 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01081.hp2 HG01099.hp2 others(48): Show |
a0001a0002a0004others(5): Show | a0001c0001a0002c0002a0004c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(27): Show | a0001c0001t0001g0017a0001c0001t0001g0025a0001c0001t0001g0152others(48): Show | 51 | 268 | 0.1903 | 11 | c.62+ others(24): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 441497 | C | CTTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 HG02055.hp1 HG02071.hp2 others(11): Show |
a0002a0004a0007others(2): Show | a0002c0002a0002c0011a0004c0003others(3): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0010others(8): Show | a0002c0002t0001g0062a0002c0002t0001g0172a0002c0002t0001g0184others(11): Show | 14 | 268 | 0.0522 | 11 | c.*66 others(22): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3213 | chr5 | TogoVar | ||||||
AHR_chr7_17293652_17351147 | 17298456 | C | CGGGGGGG others(4): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG02976.hp1 NA21309.hp1 |
a0001a0003a0007 | a0001c0001a0003c0004a0007c0010 | a0001c0001t0008a0003c0004t0012a0007c0010t0043 | a0001c0001t0008g0054a0003c0004t0012g0116a0007c0010t0043g0110 | 3 | 370 | 0.0081 | 11 | c.-80 others(20): Show |
AHR | ENSG00000106546.14 | transcript | ENST00000242057.9 | protein_coding | 195 | chr7 | TogoVar | ||||||
AIF1L_chr9_131091531_131128144 | 131128061 | G | GCCCTTGC others(4): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0188 | 1 | 424 | 0.0024 | 11 | c.*77 others(22): Show |
AIF1L | ENSG00000126878.13 | transcript | ENST00000247291.8 | protein_coding | 4918 | chr9 | TogoVar | ||||||
AIFM1_chrX_130124362_130170841 | 130150977 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00639.hp1 HG00639.hp2 others(46): Show |
a0001a0002a0004 | a0001c0002a0001c0004a0002c0005others(1): Show | a0001c0002t0001a0001c0004t0001a0002c0005t0001others(1): Show | a0001c0002t0001g0004a0001c0002t0001g0005a0001c0002t0001g0006others(43): Show | 49 | 262 | 0.1870 | 11 | c.250 others(28): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 2/15 | chrX | TogoVar | ||||||
AIFM2_chr10_70107271_70137825 | 70136527 | T | TGTGTGTG others(4): Show |
upstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0075 | 1 | 468 | 0.0021 | 11 | c.-38 others(22): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 3703 | chr10 | TogoVar | ||||||
AIFM2_chr10_70107271_70137825 | 70136568 | T | TGTGTGTG others(4): Show |
upstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 468 | 0.0021 | 11 | c.-38 others(22): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 3744 | chr10 | TogoVar | ||||||
AIFM3_chr22_20962255_20986358 | 20962872 | A | AGAGGGTA others(4): Show |
upstream_gene_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 456 | 0.0022 | 11 | c.-45 others(22): Show |
AIFM3 | ENSG00000183773.16 | transcript | ENST00000440238.4 | protein_coding | 4382 | chr22 | TogoVar | ||||||
AIFM3_chr22_20962255_20986358 | 20962873 | G | GAGGGTAC others(4): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(211): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(136): Show | 214 | 456 | 0.4693 | 11 | c.-45 others(22): Show |
AIFM3 | ENSG00000183773.16 | transcript | ENST00000440238.4 | protein_coding | 4381 | chr22 | TogoVar | ||||||
AIMP1_chr4_106311550_106354456 | 106350000 | C | CAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 384 | 0.0026 | 11 | c.*23 others(22): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 545 | chr4 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6009970 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0357 | 1 | 442 | 0.0023 | 11 | c.135 others(26): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | chr7 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6009974 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG01891.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0342a0001c0001t0002g0343 | 2 | 442 | 0.0045 | 11 | c.135 others(26): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | chr7 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6421853 | A | AGAAAAGA others(4): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG01261.hp2 HG02015.hp1 others(8): Show |
a0001a0002a0009 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0002a0001c0002t0003a0001c0002t0012others(5): Show | a0001c0001t0002g0260a0001c0002t0003g0002a0001c0002t0012g0178others(8): Show | 11 | 454 | 0.0242 | 11 | c.*36 others(22): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 1884 | chr17 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6423530 | T | TCAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG01255.hp1 HG02257.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0006a0001c0002t0017a0001c0004t0010others(5): Show | a0001c0001t0006g0278a0001c0002t0017g0347a0001c0004t0010g0017others(11): Show | 16 | 454 | 0.0352 | 11 | c.*19 others(22): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 207 | chr17 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6434356 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02602.hp2 HG02717.hp2 NA18944.hp1 others(2): Show |
a0001a0006 | a0001c0002a0006c0014 | a0001c0002t0007a0001c0002t0013a0001c0002t0023others(2): Show | a0001c0002t0007g0343a0001c0002t0013g0342a0001c0002t0023g0344others(2): Show | 5 | 454 | 0.0110 | 11 | c.97- others(24): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
AIP_chr11_67478026_67496103 | 67494797 | T | TGGGCGAG others(4): Show |
downstream_gene_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0023 | 1 | 342 | 0.0029 | 11 | c.*38 others(22): Show |
AIP | ENSG00000110711.11 | transcript | ENST00000279146.8 | protein_coding | 3695 | chr11 | TogoVar | ||||||
AIRE_chr21_44280876_44303648 | 44303440 | A | AAGACTTG others(4): Show |
downstream_gene_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0188 | 1 | 426 | 0.0024 | 11 | c.*57 others(22): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 4793 | chr21 | TogoVar | ||||||
AIRE_chr21_44280876_44303648 | 44303441 | A | AAGACTTG others(4): Show |
downstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG01884.hp2 others(17): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0004a0001c0010others(6): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(7): Show | a0001c0001t0001g0047a0001c0004t0001g0113a0001c0004t0002g0186others(14): Show | 20 | 426 | 0.0470 | 11 | c.*57 others(22): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 4794 | chr21 | TogoVar | ||||||
AIRE_chr21_44280876_44303648 | 44303442 | A | AAGACTTG others(4): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0003 | a0003c0020 | a0003c0020t0001 | a0003c0020t0001g0215 | 1 | 426 | 0.0024 | 11 | c.*57 others(22): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 4795 | chr21 | TogoVar | ||||||
AJAP1_chr1_4649609_4797534 | 4778614 | T | TCTCTCTC others(4): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0003 | a0003c0007 | a0003c0007t0038 | a0003c0007t0038g0127 | 1 | 334 | 0.0030 | 11 | c.*60 others(28): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 5/5 | chr1 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4731055 | C | CCTACTGA others(4): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0170 | 1 | 462 | 0.0022 | 11 | c.152 others(28): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | ||||||
AK4_chr1_65143203_65237145 | 65152362 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0002 | a0001c0002t0035 | a0001c0002t0035g0293 | 1 | 300 | 0.0033 | 11 | c.145 others(28): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |