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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HUWE1_chrX_53527096_53691719 | 53645735 | AAATATAT | A | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 214 | 0.0047 | -7 | c.352 others(22): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | TogoVar | |||||||
HUWE1_chrX_53527096_53691719 | 53645737 | ATATATAT | A | intron_variant | MODIFIER | HG01243.hp1 HG02615.hp2 NA18945.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0078 a0001c0001t0003g0057 a0001c0001t0003g0058 others(4): Show |
7 | 214 | 0.0327 | -7 | c.352 others(22): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | TogoVar | |||||||
HUWE1_chrX_53527096_53691719 | 53646093 | TATATAAC | T | intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0162 | 1 | 214 | 0.0047 | -7 | c.352 others(22): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | TogoVar | |||||||
HUWE1_chrX_53527096_53691719 | 53656555 | AAAAAAAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(69): Show |
a0001a0003a0005others(1): Show | a0001c0002a0001c0003a0001c0006others(7): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(18): Show | a0001c0002t0001g0065 a0001c0002t0002g0123 a0001c0002t0002g0126 others(69): Show |
72 | 214 | 0.3365 | -7 | c.-24 others(24): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 3/83 | chrX | TogoVar | |||||||
HYAL1_chr3_50294893_50308574 | 50306219 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02109.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0007 |
6 | 384 | 0.0156 | -7 | c.-27 others(18): Show |
HYAL1 | ENSG00000114378.17 | transcript | ENST00000395144.7 | protein_coding | 2646 | chr3 | TogoVar | |||||||
HYCC1_chr7_22929211_23019130 | 22934206 | CTTTTTTT | C | splice_region_variant | LOW | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(108): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0007a0001c0001t0049a0001c0001t0086others(23): Show | a0001c0001t0007g0221 a0001c0001t0049g0310 a0001c0001t0086g0081 others(94): Show |
111 | 386 | 0.2876 | -7 | c.*11 others(20): Show |
HYCC1 | ENSG00000122591.13 | transcript | ENST00000432176.7 | protein_coding | 11/11 | chr7 | TogoVar | |||||||
HYDIN_chr16_70797084_71235722 | 70816372 | AGAACCTT | A | intron_variant | MODIFIER | HG02451.hp1 HG02622.hp2 HG02647.hp2 |
a0001a0025a0030 | a0001c0062a0025c0070a0030c0069 | a0001c0062t0013a0025c0070t0001a0030c0069t0013 | a0001c0062t0013g0104 a0025c0070t0001g0042 a0030c0069t0013g0068 |
3 | 174 | 0.0172 | -7 | c.146 others(28): Show |
HYDIN | ENSG00000157423.18 | transcript | ENST00000393567.7 | protein_coding | 84/85 | chr16 | TogoVar | |||||||
HYDIN_chr16_70797084_71235722 | 71111086 | TCAGAGAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00642.hp1 others(76): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0015others(30): Show | a0001c0001t0001a0001c0001t0025a0001c0001t0026others(39): Show | a0001c0001t0001g0065 a0001c0001t0001g0079 a0001c0001t0001g0082 others(76): Show |
79 | 174 | 0.4540 | -7 | c.132 others(26): Show |
HYDIN | ENSG00000157423.18 | transcript | ENST00000393567.7 | protein_coding | 10/85 | chr16 | TogoVar | |||||||
HYI_chr1_43445989_43458931 | 43453834 | AGGCGGCG | A | 5_prime_UTR_variant | MODIFIER | HG00597.hp1 HG02976.hp2 HG03516.hp2 others(2): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0006a0002c0001t0006 | a0001c0002t0006g0016 a0001c0002t0006g0037 a0002c0001t0006g0038 |
5 | 422 | 0.0119 | -7 | c.-48 others(14): Show |
HYI | ENSG00000178922.18 | transcript | ENST00000372430.9 | protein_coding | 1/8 | 42 | chr1 | TogoVar | ||||||
HYLS1_chr11_125882668_125905646 | 125886572 | ATTTTTTT | A | upstream_gene_variant | MODIFIER | HG00438.hp2 HG01891.hp1 HG02717.hp2 others(7): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0003 | a0001c0001t0002g0006 a0001c0001t0002g0013 a0001c0001t0002g0022 others(4): Show |
10 | 436 | 0.0229 | -7 | c.-12 others(18): Show |
HYLS1 | ENSG00000198331.11 | transcript | ENST00000425380.7 | protein_coding | 1095 | chr11 | TogoVar | |||||||
HYLS1_chr11_125882668_125905646 | 125889931 | CTGTTTAT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(196): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0003a0001c0006t0003a0002c0002t0001others(4): Show | a0001c0001t0003g0003 a0001c0001t0003g0008 a0001c0001t0003g0015 others(48): Show |
199 | 436 | 0.4564 | -7 | c.-75 others(24): Show |
HYLS1 | ENSG00000198331.11 | transcript | ENST00000425380.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IARS1_chr9_92205207_92298697 | 92247197 | AAGAGAAG | A | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG01168.hp1 others(18): Show |
a0002a0003 | a0002c0004a0003c0006 | a0002c0004t0003a0002c0004t0006a0002c0004t0007others(1): Show | a0002c0004t0003g0018 a0002c0004t0003g0019 a0002c0004t0003g0020 others(18): Show |
21 | 338 | 0.0621 | -7 | c.279 others(24): Show |
IARS1 | ENSG00000196305.19 | transcript | ENST00000443024.7 | protein_coding | 26/33 | chr9 | TogoVar | |||||||
IBTK_chr6_82164987_82252744 | 82200753 | GTTTTTTT | G | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01169.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0111 a0001c0001t0001g0227 others(3): Show |
7 | 296 | 0.0237 | -7 | c.279 others(22): Show |
IBTK | ENSG00000005700.15 | transcript | ENST00000306270.12 | protein_coding | 19/28 | chr6 | TogoVar | |||||||
ICA1L_chr2_202768176_202876766 | 202835215 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(104): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(22): Show | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0018 others(103): Show |
107 | 330 | 0.3242 | -7 | c.-7- others(22): Show |
ICA1L | ENSG00000163596.17 | transcript | ENST00000358299.7 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
ICA1_chr7_8108184_8267167 | 8265516 | TTTTTTTC | T | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01175.hp2 HG02300.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0111 a0001c0001t0002g0112 a0001c0001t0003g0110 others(5): Show |
8 | 274 | 0.0292 | -7 | c.-35 others(18): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 3350 | chr7 | TogoVar | |||||||
ICAM1_chr19_10266120_10291615 | 10278565 | TTTTTTTC | T | intron_variant | MODIFIER | HG00733.hp2 HG01070.hp1 HG01071.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0007 | a0001c0001t0003g0016 a0001c0001t0003g0190 a0001c0001t0003g0216 others(8): Show |
16 | 452 | 0.0354 | -7 | c.331 others(24): Show |
ICAM1 | ENSG00000090339.9 | transcript | ENST00000264832.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ICAM2_chr17_63997595_64025633 | 64000819 | ATTTTTTT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(153): Show |
a0001a0003a0004 | a0001c0001a0003c0004a0004c0006 | a0001c0001t0001a0003c0004t0001a0004c0006t0001 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0013 others(140): Show |
156 | 392 | 0.3980 | -7 | c.*19 others(18): Show |
ICAM2 | ENSG00000108622.11 | transcript | ENST00000579788.6 | protein_coding | 1775 | chr17 | TogoVar | |||||||
ICE1_chr5_5417677_5495220 | 5466943 | TCTCTTTA | T | intron_variant | MODIFIER | HG02622.hp1 HG03041.hp2 HG03130.hp2 |
a0009 | a0009c0014a0009c0032 | a0009c0014t0004a0009c0032t0004 | a0009c0014t0004g0038 a0009c0014t0004g0090 a0009c0032t0004g0051 |
3 | 364 | 0.0082 | -7 | c.606 others(24): Show |
ICE1 | ENSG00000164151.12 | transcript | ENST00000296564.9 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IDE_chr10_92446684_92579093 | 92456844 | CAAAAAAA | C | intron_variant | MODIFIER | HG01070.hp2 HG01361.hp1 HG01928.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012a0001c0001t0015 | a0001c0001t0003g0182 a0001c0001t0003g0184 a0001c0001t0003g0185 others(7): Show |
10 | 314 | 0.0319 | -7 | c.282 others(24): Show |
IDE | ENSG00000119912.18 | transcript | ENST00000265986.11 | protein_coding | 22/24 | chr10 | TogoVar | |||||||
IDE_chr10_92446684_92579093 | 92524440 | ATATATTT | A | intron_variant | MODIFIER | HG01243.hp2 HG02818.hp1 HG02922.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(2): Show |
5 | 314 | 0.0159 | -7 | c.661 others(24): Show |
IDE | ENSG00000119912.18 | transcript | ENST00000265986.11 | protein_coding | 4/24 | chr10 | TogoVar | |||||||
IDE_chr10_92446684_92579093 | 92545293 | AAGGAAAG | A | intron_variant | MODIFIER | HG00609.hp1 HG01261.hp1 HG01346.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0004 | a0001c0001t0001g0231 a0001c0001t0003g0226 a0001c0001t0003g0228 others(13): Show |
16 | 314 | 0.0510 | -7 | c.99- others(22): Show |
IDE | ENSG00000119912.18 | transcript | ENST00000265986.11 | protein_coding | 1/24 | chr10 | TogoVar | |||||||
IDE_chr10_92446684_92579093 | 92564671 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00609.hp2 others(65): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0016 others(65): Show |
68 | 314 | 0.2166 | -7 | c.98+ others(22): Show |
IDE | ENSG00000119912.18 | transcript | ENST00000265986.11 | protein_coding | 1/24 | chr10 | TogoVar | |||||||
IDH3G_chrX_153780768_153799375 | 153782234 | AGTGTGGC | A | downstream_gene_variant | MODIFIER | NA19062.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0063 | 1 | 299 | 0.0033 | -7 | c.*36 others(18): Show |
IDH3G | ENSG00000067829.20 | transcript | ENST00000217901.10 | protein_coding | 3533 | chrX | TogoVar | |||||||
IDH3G_chrX_153780768_153799375 | 153797772 | GGTTAGAT | G | upstream_gene_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 299 | 0.0033 | -7 | c.-34 others(18): Show |
IDH3G | ENSG00000067829.20 | transcript | ENST00000217901.10 | protein_coding | 3398 | chrX | TogoVar | |||||||
IDI2_chr10_1013910_1030859 | 1015685 | GCTGAGCA | G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(426): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(172): Show |
429 | 434 | 0.9885 | -7 | c.*38 others(18): Show |
IDI2 | ENSG00000148377.6 | transcript | ENST00000277517.2 | protein_coding | 3224 | chr10 | TogoVar | |||||||
IDNK_chr9_83618143_83649123 | 83627872 | AAAAAAAT | A | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00642.hp2 others(14): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0004 | a0001c0001t0003a0002c0002t0001a0007c0004t0001 | a0001c0001t0003g0079 a0001c0001t0003g0176 a0002c0002t0001g0004 others(7): Show |
17 | 332 | 0.0512 | -7 | c.51- others(20): Show |
IDNK | ENSG00000148057.16 | transcript | ENST00000376419.5 | protein_coding | 1/4 | chr9 | TogoVar | |||||||
IDO1_chr8_39908891_39933790 | 39910735 | ATTTTATT | A | upstream_gene_variant | MODIFIER | HG02015.hp1 NA18972.hp2 NA18985.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0061 |
3 | 422 | 0.0071 | -7 | c.-31 others(18): Show |
IDO1 | ENSG00000131203.13 | transcript | ENST00000518237.6 | protein_coding | 3155 | chr8 | TogoVar | |||||||
IDO2_chr8_39929651_40021392 | 39995172 | TCTTCTTC | T | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00609.hp2 others(40): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(7): Show | a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0295 others(40): Show |
43 | 360 | 0.1194 | -7 | c.667 others(24): Show |
IDO2 | ENSG00000188676.15 | transcript | ENST00000502986.4 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
IDO2_chr8_39929651_40021392 | 40001245 | ATTTTTTT | A | intron_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01071.hp2 others(8): Show |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0001a0002c0002t0007a0002c0002t0008others(1): Show | a0002c0002t0001g0120 a0002c0002t0001g0281 a0002c0002t0001g0288 others(8): Show |
11 | 360 | 0.0306 | -7 | c.668 others(24): Show |
IDO2 | ENSG00000188676.15 | transcript | ENST00000502986.4 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
IER5_chr1_181083700_181097900 | 181096623 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02004.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0006g0000 others(2): Show |
6 | 374 | 0.0160 | -7 | c.*67 others(18): Show |
IER5 | ENSG00000162783.11 | transcript | ENST00000367577.7 | protein_coding | 3724 | chr1 | TogoVar | |||||||
IFI27L2_chr14_94122781_94134604 | 94124920 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00597.hp2 HG00673.hp2 HG06807.hp2 others(12): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0004c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0004c0003t0001g0022 |
15 | 433 | 0.0346 | -7 | c.*28 others(18): Show |
IFI27L2 | ENSG00000119632.4 | transcript | ENST00000238609.4 | protein_coding | 2860 | chr14 | TogoVar | |||||||
IFI27_chr14_94105736_94121690 | 94115859 | CAGCCAAG | C | frameshift_variant | HIGH | HG01192.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0028 | 1 | 467 | 0.0021 | -7 | c.202 others(14): Show |
p.Ala others(4): Show |
IFI27 | ENSG00000165949.13 | transcript | ENST00000621160.5 | protein_coding | 4/5 | 322/652 | 202/369 | 68/122 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||
IFI27_chr14_94105736_94121690 | 94115887 | TGCCAATG | T | frameshift_variant | HIGH | HG01192.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0028 | 1 | 467 | 0.0021 | -7 | c.230 others(14): Show |
p.Ala others(4): Show |
IFI27 | ENSG00000165949.13 | transcript | ENST00000621160.5 | protein_coding | 4/5 | 350/652 | 230/369 | 77/122 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||
IFI30_chr19_18168813_18183117 | 18178664 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG00621.hp1 others(13): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0006 | a0001c0002t0003g0008 a0001c0002t0003g0010 a0001c0002t0003g0020 others(2): Show |
16 | 350 | 0.0457 | -7 | c.*75 others(16): Show |
IFI30 | ENSG00000216490.4 | transcript | ENST00000407280.4 | protein_coding | 548 | chr19 | TogoVar | |||||||
IFI6_chr1_27661064_27677192 | 27669362 | AGGGAGAT | A | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG03654.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0031 |
4 | 356 | 0.0112 | -7 | c.-32 others(20): Show |
IFI6 | ENSG00000126709.16 | transcript | ENST00000361157.11 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
IFIT1B_chr10_89373056_89390205 | 89373334 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00544.hp2 HG01255.hp1 HG03225.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0003g0004 others(3): Show |
14 | 440 | 0.0318 | -7 | c.-48 others(18): Show |
IFIT1B | ENSG00000204010.3 | transcript | ENST00000371809.3 | protein_coding | 4721 | chr10 | TogoVar | |||||||
IFIT3_chr10_89322997_89345968 | 89334478 | CTTTTTTT | C | intron_variant | MODIFIER | HG00544.hp1 HG01168.hp2 HG01255.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0008 a0001c0001t0002g0011 a0001c0001t0002g0050 others(7): Show |
24 | 402 | 0.0597 | -7 | c.6-4 others(20): Show |
IFIT3 | ENSG00000119917.15 | transcript | ENST00000371818.9 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
IFIT5_chr10_89409568_89425997 | 89413777 | AAAAAACC | A | upstream_gene_variant | MODIFIER | HG02056.hp2 HG02080.hp2 HG02129.hp2 others(15): Show |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0001a0001c0001t0004a0008c0010t0001 | a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0004g0018 others(1): Show |
18 | 422 | 0.0427 | -7 | c.-10 others(18): Show |
IFIT5 | ENSG00000152778.10 | transcript | ENST00000371795.5 | protein_coding | 790 | chr10 | TogoVar | |||||||
IFIT5_chr10_89409568_89425997 | 89420105 | AAACTTAT | A | 3_prime_UTR_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02257.hp2 others(7): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0007a0001c0005t0007 | a0001c0001t0007g0009 a0001c0001t0007g0017 a0001c0005t0007g0009 |
10 | 422 | 0.0237 | -7 | c.*14 others(18): Show |
IFIT5 | ENSG00000152778.10 | transcript | ENST00000371795.5 | protein_coding | 2/2 | 1467 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
IFNAR2_chr21_33224938_33270664 | 33229924 | GCGCCCGC | G | upstream_gene_variant | MODIFIER | HG01515.hp1 HG01934.hp1 HG03516.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0037 | a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0190 others(2): Show |
5 | 424 | 0.0118 | -7 | c.-37 others(16): Show |
IFNAR2 | ENSG00000159110.22 | transcript | ENST00000342136.9 | protein_coding | 13 | chr21 | TogoVar | |||||||
IFNE_chr9_21475839_21487313 | 21476052 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00438.hp1 others(41): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0003 | a0001c0001t0001g0000 a0001c0001t0002g0000 a0002c0002t0003g0000 |
44 | 450 | 0.0978 | -7 | c.*50 others(18): Show |
IFNE | ENSG00000184995.7 | transcript | ENST00000448696.4 | protein_coding | 4786 | chr9 | TogoVar | |||||||
IFNGR1_chr6_137192485_137224385 | 137199327 | TTATAATA | T | intron_variant | MODIFIER | HG01975.hp1 HG02572.hp2 HG02896.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0002c0006t0002a0002c0006t0004 | a0001c0001t0001g0185 a0002c0006t0002g0035 a0002c0006t0002g0096 others(1): Show |
5 | 390 | 0.0128 | -7 | c.862 others(22): Show |
IFNGR1 | ENSG00000027697.16 | transcript | ENST00000367739.9 | protein_coding | 6/6 | chr6 | TogoVar | |||||||
IFNLR1_chr1_24149168_24192289 | 24162812 | TTTTTTTC | T | intron_variant | MODIFIER | HG00099.hp2 HG01069.hp2 HG01106.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0004a0001c0001t0013a0001c0002t0001others(2): Show | a0001c0001t0004g0087 a0001c0001t0013g0277 a0001c0002t0001g0164 others(4): Show |
7 | 396 | 0.0177 | -7 | c.368 others(24): Show |
IFNLR1 | ENSG00000185436.12 | transcript | ENST00000327535.6 | protein_coding | 3/6 | chr1 | TogoVar | |||||||
IFRD1_chr7_112445460_112482203 | 112463888 | ACACACAC | A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00558.hp2 others(42): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0001t0011a0001c0001t0021others(2): Show | a0001c0001t0004g0003 a0001c0001t0004g0017 a0001c0001t0004g0050 others(25): Show |
45 | 374 | 0.1203 | -7 | c.906 others(24): Show |
IFRD1 | ENSG00000006652.15 | transcript | ENST00000403825.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
IFT140_chr16_1505427_1617072 | 1544161 | GCACCTGC | G | intron_variant | MODIFIER | HG01192.hp2 HG01257.hp2 HG01261.hp1 others(2): Show |
a0008a0015 | a0008c0011a0015c0049 | a0008c0011t0003a0015c0049t0004 | a0008c0011t0003g0042 a0008c0011t0003g0043 a0008c0011t0003g0044 others(2): Show |
5 | 334 | 0.0150 | -7 | c.239 others(28): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 19/30 | chr16 | TogoVar | |||||||
IFT140_chr16_1505427_1617072 | 1567392 | GCCTCTGC | G | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG03139.hp1 others(8): Show |
a0001a0006a0010 | a0001c0008a0006c0007a0010c0012 | a0001c0008t0001a0006c0007t0003a0010c0012t0003 | a0001c0008t0001g0203 a0006c0007t0003g0159 a0006c0007t0003g0160 others(8): Show |
11 | 334 | 0.0329 | -7 | c.177 others(24): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 15/30 | chr16 | TogoVar | |||||||
IFT140_chr16_1505427_1617072 | 1573472 | CTTGTATT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(83): Show |
a0002a0003a0006others(17): Show | a0002c0005a0002c0016a0002c0017others(24): Show | a0002c0005t0001a0002c0005t0003a0002c0016t0001others(25): Show | a0002c0005t0001g0141 a0002c0005t0001g0142 a0002c0005t0001g0143 others(83): Show |
86 | 334 | 0.2575 | -7 | c.152 others(26): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 13/30 | chr16 | TogoVar | |||||||
IFT43_chr14_75980763_76088742 | 75999274 | TATATATA | T | intron_variant | MODIFIER | HG00099.hp1 HG00741.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0085 |
3 | 396 | 0.0076 | -7 | c.147 others(26): Show |
IFT43 | ENSG00000119650.13 | transcript | ENST00000314067.11 | protein_coding | 2/8 | chr14 | TogoVar | |||||||
IFT56_chr7_139128778_139196986 | 139140775 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00544.hp2 others(79): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0005 | a0001c0001t0001a0001c0001t0014a0001c0001t0018others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0012 others(63): Show |
82 | 330 | 0.2485 | -7 | c.349 others(22): Show |
IFT56 | ENSG00000105948.13 | transcript | ENST00000464848.5 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
IFT57_chr3_108155812_108227424 | 108206069 | AATATATT | A | intron_variant | MODIFIER | NA18971.hp1 NA18979.hp1 NA18988.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 a0001c0001t0002g0136 a0001c0001t0002g0137 others(1): Show |
5 | 354 | 0.0141 | -7 | c.654 others(22): Show |
IFT57 | ENSG00000114446.5 | transcript | ENST00000264538.4 | protein_coding | 5/10 | chr3 | TogoVar |