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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AICDA_chr12_8597170_8617859 | 8610993 | T | TTGTGTG | intron_variant | MODIFIER | HG01099.hp1 HG01891.hp1 HG02074.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0009a0001c0002t0001others(1): Show | a0001c0001t0002g0282a0001c0001t0002g0285a0001c0001t0009g0283others(3): Show | 6 | 458 | 0.0131 | 6 | c.8+1 others(19): Show |
AICDA | ENSG00000111732.12 | transcript | ENST00000229335.11 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
AIDA_chr1_222663013_222717491 | 222689481 | G | GTGTATA | intron_variant | MODIFIER | HG00140.hp2 HG02040.hp2 HG02523.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0033a0001c0001t0002g0102a0001c0001t0002g0103others(2): Show | 5 | 368 | 0.0136 | 6 | c.290 others(23): Show |
AIDA | ENSG00000186063.13 | transcript | ENST00000340020.11 | protein_coding | 4/9 | chr1 | TogoVar | ||||||
AIDA_chr1_222663013_222717491 | 222689520 | T | TATACAC | intron_variant | MODIFIER | HG00639.hp2 HG01884.hp1 HG03688.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0208a0001c0001t0001g0224a0001c0001t0002g0093others(1): Show | 4 | 368 | 0.0109 | 6 | c.290 others(23): Show |
AIDA | ENSG00000186063.13 | transcript | ENST00000340020.11 | protein_coding | 4/9 | chr1 | TogoVar | ||||||
AIDA_chr1_222663013_222717491 | 222689520 | T | TATATAC | intron_variant | MODIFIER | HG00423.hp1 HG01071.hp2 HG02602.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0172a0001c0001t0002g0138a0001c0001t0002g0141others(9): Show | 12 | 368 | 0.0326 | 6 | c.290 others(23): Show |
AIDA | ENSG00000186063.13 | transcript | ENST00000340020.11 | protein_coding | 4/9 | chr1 | TogoVar | ||||||
AIDA_chr1_222663013_222717491 | 222700971 | T | TTGGGGG | intron_variant | MODIFIER | HG01433.hp2 HG02451.hp1 HG03041.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068a0001c0001t0001g0076a0001c0001t0001g0078others(2): Show | 5 | 368 | 0.0136 | 6 | c.180 others(23): Show |
AIDA | ENSG00000186063.13 | transcript | ENST00000340020.11 | protein_coding | 2/9 | chr1 | TogoVar | ||||||
AIDA_chr1_222663013_222717491 | 222716085 | T | TTTTTTA | upstream_gene_variant | MODIFIER | HG00558.hp2 HG02015.hp2 HG02074.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004a0001c0001t0003g0276a0001c0001t0003g0277others(9): Show | 16 | 368 | 0.0435 | 6 | c.-37 others(17): Show |
AIDA | ENSG00000186063.13 | transcript | ENST00000340020.11 | protein_coding | 3595 | chr1 | TogoVar | ||||||
AIF1_chr6_31610234_31622015 | 31620909 | T | TGGTGGC | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(175): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0007others(6): Show | 178 | 437 | 0.4073 | 6 | c.*40 others(17): Show |
AIF1 | ENSG00000204472.13 | transcript | ENST00000376059.8 | protein_coding | 3895 | chr6 | TogoVar | ||||||
AIFM1_chrX_130124362_130170841 | 130127036 | G | GGTGTGT | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02258.hp1 NA20300.hp1 |
a0001a0002 | a0001c0003a0002c0005 | a0001c0003t0001a0001c0003t0002a0002c0005t0001 | a0001c0003t0001g0023a0001c0003t0002g0244a0002c0005t0001g0243 | 3 | 262 | 0.0115 | 6 | c.*25 others(17): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 2325 | chrX | TogoVar | ||||||
AIFM1_chrX_130124362_130170841 | 130127691 | C | CTTTTTT | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01167.hp1 HG01169.hp2 others(4): Show |
a0001a0006 | a0001c0002a0006c0007 | a0001c0002t0001a0006c0007t0001 | a0001c0002t0001g0002a0001c0002t0001g0029a0001c0002t0001g0065others(4): Show | 7 | 262 | 0.0267 | 6 | c.*18 others(17): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 1670 | chrX | TogoVar | ||||||
AIFM1_chrX_130124362_130170841 | 130146451 | A | ATGTGTG | intron_variant | MODIFIER | HG01123.hp1 HG02055.hp1 HG02559.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0161a0001c0001t0001g0230a0001c0002t0001g0054others(2): Show | 5 | 262 | 0.0191 | 6 | c.606 others(21): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 5/15 | chrX | TogoVar | ||||||
AIFM2_chr10_70107271_70137825 | 70132764 | G | GGCTCCC | 5_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG00673.hp1 others(75): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0002a0001c0001t0048a0001c0001t0049others(13): Show | a0001c0001t0002g0012a0001c0001t0002g0013a0001c0001t0002g0014others(64): Show | 78 | 468 | 0.1667 | 6 | c.-50 others(13): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 1/9 | 8681 | chr10 | TogoVar | |||||
AIFM2_chr10_70107271_70137825 | 70136527 | T | TTGTGTG | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(43): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(18): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0038others(38): Show | 46 | 468 | 0.0983 | 6 | c.-38 others(17): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 3703 | chr10 | TogoVar | ||||||
AIFM3_chr22_20962255_20986358 | 20985059 | A | ATTTTTT | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01243.hp1 HG01261.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0007 | a0001c0001t0001a0001c0001t0003a0002c0003t0003others(1): Show | a0001c0001t0001g0140a0001c0001t0001g0162a0001c0001t0003g0004others(12): Show | 19 | 456 | 0.0417 | 6 | c.*40 others(17): Show |
AIFM3 | ENSG00000183773.16 | transcript | ENST00000440238.4 | protein_coding | 3702 | chr22 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143060781 | G | GCCCCGC | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02965.hp2 HG02976.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0161a0001c0001t0001g0168a0001c0001t0001g0169others(2): Show | 5 | 204 | 0.0245 | 6 | c.-14 others(15): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 107 | chr6 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143060815 | C | CCCCGCG | upstream_gene_variant | MODIFIER | HG01109.hp1 HG02818.hp2 HG03490.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(1): Show | a0001c0001t0003g0091a0001c0001t0005g0066a0001c0001t0010g0194others(1): Show | 4 | 204 | 0.0196 | 6 | c.-11 others(15): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 73 | chr6 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143196350 | A | AACACAC | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG03579.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0002t0002others(1): Show | a0001c0001t0003g0188a0001c0001t0006g0106a0001c0002t0002g0063others(1): Show | 4 | 204 | 0.0196 | 6 | c.399 others(25): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AIG1_chr6_143055889_143346058 | 143331846 | T | TTTATTA | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00558.hp1 others(35): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0090a0001c0001t0002g0093a0001c0001t0002g0095others(35): Show | 38 | 204 | 0.1863 | 6 | c.516 others(23): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AIG1_chr6_143055889_143346058 | 143345694 | A | ATTTTTT | downstream_gene_variant | MODIFIER | HG00621.hp2 HG01257.hp2 HG02055.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0092a0001c0001t0001g0149a0001c0001t0001g0156others(11): Show | 14 | 204 | 0.0686 | 6 | c.*60 others(17): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 4637 | chr6 | TogoVar | ||||||
AIM2_chr1_159057484_159081766 | 159075534 | T | TACACAC | intron_variant | MODIFIER | HG00280.hp1 HG01891.hp1 HG02451.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078a0001c0001t0001g0111a0001c0001t0001g0130others(1): Show | 4 | 394 | 0.0102 | 6 | c.-21 others(23): Show |
AIM2 | ENSG00000163568.16 | transcript | ENST00000368130.9 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
AIM2_chr1_159057484_159081766 | 159075574 | C | CACATAT | intron_variant | MODIFIER | HG02735.hp1 HG04115.hp1 NA19089.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055a0001c0001t0002g0153 | 3 | 394 | 0.0076 | 6 | c.-21 others(23): Show |
AIM2 | ENSG00000163568.16 | transcript | ENST00000368130.9 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
AIMP1_chr4_106311550_106354456 | 106332667 | C | CTATAGA | intron_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG00738.hp2 others(86): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0008others(1): Show | a0001c0001t0003g0001a0001c0001t0003g0005a0001c0001t0003g0008others(49): Show | 89 | 384 | 0.2318 | 6 | c.603 others(21): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AIMP1_chr4_106311550_106354456 | 106354214 | T | TACACAC | downstream_gene_variant | MODIFIER | HG00099.hp2 HG02602.hp1 HG02630.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0047a0001c0001t0001g0149a0001c0001t0001g0245others(5): Show | 8 | 384 | 0.0208 | 6 | c.*65 others(17): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 4759 | chr4 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6007087 | C | CATTATT | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00558.hp1 others(55): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0006 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0030a0001c0001t0001g0032others(47): Show | 58 | 442 | 0.1312 | 6 | c.-22 others(17): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 2184 | chr7 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6007106 | A | ATTATTG | upstream_gene_variant | MODIFIER | NA19067.hp2 NA19075.hp1 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0187a0001c0001t0001g0188a0001c0001t0003g0148 | 3 | 442 | 0.0068 | 6 | c.-22 others(17): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 2165 | chr7 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6421853 | A | AGAAAAG | downstream_gene_variant | MODIFIER | HG01358.hp2 HG02486.hp1 HG02630.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0025others(5): Show | a0001c0001t0002g0217a0001c0001t0009g0338a0001c0001t0025g0332others(5): Show | 8 | 454 | 0.0176 | 6 | c.*36 others(17): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 1884 | chr17 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6430456 | C | CAAAAAA | intron_variant | MODIFIER | HG00597.hp2 HG01106.hp1 HG01192.hp2 others(25): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0003a0003c0005others(1): Show | a0001c0002t0001a0002c0003t0001a0002c0003t0003others(7): Show | a0001c0002t0001g0137a0002c0003t0001g0003a0002c0003t0001g0026others(18): Show | 28 | 454 | 0.0617 | 6 | c.277 others(23): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6433586 | A | ATCTCTC | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00639.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0008a0001c0002t0001a0001c0002t0003others(3): Show | a0001c0001t0008g0256a0001c0002t0001g0030a0001c0002t0001g0142others(13): Show | 19 | 454 | 0.0419 | 6 | c.276 others(21): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6433611 | T | TCTCACA | intron_variant | MODIFIER | HG03225.hp1 HG04228.hp2 NA19030.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0025a0001c0001t0053a0001c0002t0066others(1): Show | a0001c0001t0025g0332a0001c0001t0053g0331a0001c0002t0066g0330others(1): Show | 4 | 454 | 0.0088 | 6 | c.276 others(21): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6433611 | T | TCTCTCA | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00642.hp2 others(77): Show |
a0001a0002a0009 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(27): Show | a0001c0001t0002g0010a0001c0001t0002g0041a0001c0001t0002g0127others(63): Show | 80 | 454 | 0.1762 | 6 | c.276 others(21): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6436883 | A | AGAGGAG | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp2 others(165): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(35): Show | a0001c0001t0002g0009a0001c0001t0002g0010a0001c0001t0002g0018others(143): Show | 168 | 454 | 0.3700 | 6 | c.-17 others(17): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 1763 | chr17 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6436936 | G | GGAAGAA | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp2 others(193): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(45): Show | a0001c0001t0002g0009a0001c0001t0002g0010a0001c0001t0002g0018others(168): Show | 196 | 454 | 0.4317 | 6 | c.-18 others(17): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 1816 | chr17 | TogoVar | ||||||
AIRE_chr21_44280876_44303648 | 44299059 | C | CGCCCCA | downstream_gene_variant | MODIFIER | HG02809.hp2 HG02922.hp2 NA19043.hp1 |
a0001a0003 | a0001c0016a0003c0020 | a0001c0016t0004a0003c0020t0001 | a0001c0016t0004g0031a0003c0020t0001g0215 | 3 | 426 | 0.0070 | 6 | c.*13 others(17): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 412 | chr21 | TogoVar | ||||||
AIRE_chr21_44280876_44303648 | 44299197 | T | TACACAC | downstream_gene_variant | MODIFIER | HG01261.hp1 HG01346.hp1 HG02040.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0003t0002a0001c0004t0002others(2): Show | a0001c0001t0001g0161a0001c0001t0001g0162a0001c0001t0001g0165others(4): Show | 8 | 426 | 0.0188 | 6 | c.*14 others(17): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 550 | chr21 | TogoVar | ||||||
AJAP1_chr1_4649609_4797534 | 4651882 | C | CAATAAT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00733.hp1 others(85): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(70): Show | a0001c0001t0002g0306a0001c0001t0003g0145a0001c0001t0004g0059others(83): Show | 88 | 334 | 0.2635 | 6 | c.-35 others(17): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 2726 | chr1 | TogoVar | ||||||
AJAP1_chr1_4649609_4797534 | 4679808 | G | GGTGTGT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(30): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0008others(5): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0011others(27): Show | a0001c0001t0002g0240a0001c0001t0005g0202a0001c0001t0005g0203others(30): Show | 33 | 334 | 0.0988 | 6 | c.29+ others(23): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AJAP1_chr1_4649609_4797534 | 4679852 | T | TGTGTAG | intron_variant | MODIFIER | HG01928.hp2 HG04228.hp2 NA18971.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0057a0001c0001t0058others(1): Show | a0001c0001t0003g0318a0001c0001t0057g0015a0001c0001t0058g0014others(1): Show | 4 | 334 | 0.0120 | 6 | c.29+ others(23): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
AJAP1_chr1_4649609_4797534 | 4778571 | A | ATCTCTC | intron_variant | MODIFIER | HG01081.hp2 HG02723.hp2 HG03239.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0056a0001c0002t0159a0001c0002t0192others(4): Show | a0001c0001t0056g0013a0001c0002t0159g0027a0001c0002t0192g0262others(4): Show | 7 | 334 | 0.0210 | 6 | c.*60 others(23): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AJAP1_chr1_4649609_4797534 | 4783469 | G | GTATATA | 3_prime_UTR_variant | MODIFIER | HG01261.hp2 HG02735.hp2 HG02809.hp1 others(4): Show |
a0001a0002 | a0001c0002a0001c0005a0001c0008others(1): Show | a0001c0002t0039a0001c0002t0091a0001c0002t0161others(4): Show | a0001c0002t0039g0111a0001c0002t0091g0022a0001c0002t0161g0326others(4): Show | 7 | 334 | 0.0210 | 6 | c.*98 others(15): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 6/6 | 8972 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
AJAP1_chr1_4649609_4797534 | 4790916 | T | TTTTTTG | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(98): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(67): Show | a0001c0001t0004g0001a0001c0001t0004g0059a0001c0001t0005g0196others(95): Show | 101 | 334 | 0.3024 | 6 | c.*84 others(17): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 6/6 | 16458 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
AK1_chr9_127861486_127882675 | 127879066 | A | AACACAC | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00733.hp1 others(24): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0008a0001c0001t0001g0049a0001c0001t0001g0064others(18): Show | 27 | 426 | 0.0634 | 6 | c.-14 others(17): Show |
AK1 | ENSG00000106992.19 | transcript | ENST00000644144.2 | protein_coding | 1392 | chr9 | TogoVar | ||||||
AK1_chr9_127861486_127882675 | 127881054 | C | CTTTTTT | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG02630.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0012a0001c0001t0001g0064a0001c0001t0001g0087others(14): Show | 22 | 426 | 0.0516 | 6 | c.-34 others(17): Show |
AK1 | ENSG00000106992.19 | transcript | ENST00000644144.2 | protein_coding | 3380 | chr9 | TogoVar | ||||||
AK2_chr1_33002986_33041883 | 33020188 | A | AACACAC | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG01069.hp2 others(49): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0011others(31): Show | 52 | 350 | 0.1486 | 6 | c.425 others(23): Show |
AK2 | ENSG00000004455.18 | transcript | ENST00000672715.1 | protein_coding | 4/5 | chr1 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4720689 | C | CAAAAAA | intron_variant | MODIFIER | HG01192.hp2 HG01884.hp1 HG02109.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0020others(3): Show | a0001c0001t0001g0189a0001c0001t0005g0028a0001c0001t0020g0101others(9): Show | 12 | 462 | 0.0260 | 6 | c.272 others(23): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 2/4 | chr9 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4723069 | T | TCAAAAA | intron_variant | MODIFIER | HG01099.hp1 HG01109.hp1 HG01981.hp2 others(19): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(9): Show | a0001c0001t0003g0090a0001c0001t0003g0117a0001c0001t0003g0118others(19): Show | 22 | 462 | 0.0476 | 6 | c.152 others(21): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4723953 | G | GTGGGGT | intron_variant | MODIFIER | HG01099.hp1 HG01109.hp1 HG01981.hp2 others(20): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(9): Show | a0001c0001t0003g0090a0001c0001t0003g0117a0001c0001t0003g0118others(20): Show | 23 | 462 | 0.0498 | 6 | c.152 others(23): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4728852 | T | TACACAC | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG03041.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0002g0045a0001c0001t0004g0040a0001c0001t0004g0043others(6): Show | 9 | 462 | 0.0195 | 6 | c.152 others(23): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4728854 | T | TACACAC | intron_variant | MODIFIER | HG00609.hp1 HG01256.hp1 HG01258.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0047a0001c0001t0001g0076a0001c0001t0002g0050others(25): Show | 29 | 462 | 0.0628 | 6 | c.152 others(23): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4728856 | T | TACACAC | intron_variant | MODIFIER | HG03471.hp2 NA18955.hp1 NA18957.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0036a0001c0001t0061 | a0001c0001t0003g0046a0001c0001t0003g0049a0001c0001t0003g0119others(2): Show | 5 | 462 | 0.0108 | 6 | c.152 others(23): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4728866 | T | TACACAC | intron_variant | MODIFIER | HG01358.hp2 HG01981.hp1 HG02258.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0401a0001c0001t0003g0030a0001c0001t0003g0080others(10): Show | 13 | 462 | 0.0281 | 6 | c.152 others(23): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4729015 | A | ATTTTTT | intron_variant | MODIFIER | HG00544.hp1 NA18955.hp2 NA18957.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0132a0001c0001t0002g0136a0001c0001t0002g0141others(3): Show | 6 | 462 | 0.0130 | 6 | c.152 others(23): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar |