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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HUNK_chr21_31868020_32009064 | 32007936 | A | ATTTTTTT | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01099.hp1 HG01109.hp1 others(4): Show |
a0001 | a0001c0005 | a0001c0005t0010a0001c0005t0040 | a0001c0005t0010g0052 a0001c0005t0010g0261 a0001c0005t0010g0262 others(4): Show |
7 | 326 | 0.0215 | 7 | c.*87 others(18): Show |
HUNK | ENSG00000142149.9 | transcript | ENST00000270112.7 | protein_coding | 3873 | chr21 | TogoVar | |||||||
HUS1B_chr6_650939_662100 | 654803 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00438.hp1 HG01106.hp1 HG01361.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 7 | 16 | 0.4375 | 7 | c.*12 others(18): Show |
HUS1B | ENSG00000188996.5 | transcript | ENST00000380907.3 | protein_coding | 1135 | chr6 | TogoVar | |||||||
HUS1B_chr6_650939_662100 | 658666 | T | TATATATA | upstream_gene_variant | MODIFIER | HG01081.hp1 HG01109.hp2 HG01884.hp2 others(5): Show |
a0002a0006 | a0002c0002a0006c0010 | a0002c0002t0001a0006c0010t0001 | a0002c0002t0001g0000 a0006c0010t0001g0000 |
8 | 330 | 0.0242 | 7 | c.-17 others(18): Show |
HUS1B | ENSG00000188996.5 | transcript | ENST00000380907.3 | protein_coding | 1567 | chr6 | TogoVar | |||||||
HYAL1_chr3_50294893_50308574 | 50304274 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02897.hp2 HG03654.hp1 others(8): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0001 a0003c0003t0001g0011 |
11 | 308 | 0.0357 | 7 | c.-84 others(16): Show |
HYAL1 | ENSG00000114378.17 | transcript | ENST00000395144.7 | protein_coding | 701 | chr3 | TogoVar | |||||||
HYAL3_chr3_50287832_50304405 | 50304274 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02897.hp1 HG03654.hp1 others(7): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0002c0002t0001a0005c0005t0001 | a0001c0001t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0017 others(1): Show |
10 | 287 | 0.0348 | 7 | c.-50 others(18): Show |
HYAL3 | ENSG00000186792.17 | transcript | ENST00000336307.6 | protein_coding | 4870 | chr3 | TogoVar | |||||||
HYI_chr1_43445989_43458931 | 43453834 | A | AGGCGGCG | 5_prime_UTR_variant | MODIFIER | HG00423.hp1 HG02027.hp2 HG02055.hp2 others(15): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0002a0001c0003t0002a0002c0001t0002 | a0001c0002t0002g0015 a0001c0002t0002g0026 a0001c0003t0002g0027 others(1): Show |
18 | 408 | 0.0441 | 7 | c.-48 others(14): Show |
HYI | ENSG00000178922.18 | transcript | ENST00000372430.9 | protein_coding | 1/8 | 42 | chr1 | TogoVar | ||||||
HYI_chr1_43445989_43458931 | 43455965 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(110): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(4): Show | a0001c0002t0001g0002 a0001c0002t0001g0013 a0001c0002t0001g0032 others(8): Show |
113 | 288 | 0.3924 | 7 | c.-21 others(18): Show |
HYI | ENSG00000178922.18 | transcript | ENST00000372430.9 | protein_coding | 2035 | chr1 | TogoVar | |||||||
HYLS1_chr11_125882668_125905646 | 125886919 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG03831.hp1 NA18947.hp2 NA18967.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 a0002c0002t0001g0012 a0002c0002t0001g0097 |
7 | 88 | 0.0795 | 7 | c.-92 others(16): Show |
HYLS1 | ENSG00000198331.11 | transcript | ENST00000425380.7 | protein_coding | 748 | chr11 | TogoVar | |||||||
IARS1_chr9_92205207_92298697 | 92224832 | C | CAAAAAAT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(165): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0001c0020others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(154): Show |
168 | 336 | 0.5000 | 7 | c.341 others(26): Show |
IARS1 | ENSG00000196305.19 | transcript | ENST00000443024.7 | protein_coding | 31/33 | chr9 | TogoVar | |||||||
IARS1_chr9_92205207_92298697 | 92296712 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00741.hp1 others(85): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0003a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(6): Show | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0151 others(82): Show |
88 | 156 | 0.5641 | 7 | c.-31 others(18): Show |
IARS1 | ENSG00000196305.19 | transcript | ENST00000443024.7 | protein_coding | 3016 | chr9 | TogoVar | |||||||
ICAM1_chr19_10266120_10291615 | 10278548 | C | CTTTTTTT | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01167.hp1 others(4): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0002a0007c0008t0014 | a0001c0001t0002g0024 a0001c0001t0002g0065 a0001c0001t0002g0067 others(3): Show |
7 | 296 | 0.0236 | 7 | c.331 others(24): Show |
ICAM1 | ENSG00000090339.9 | transcript | ENST00000264832.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ICE2_chr15_60414609_60484142 | 60456540 | C | CAAAAAAA | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp1 HG01167.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0002t0001a0001c0002t0012 | a0001c0001t0010g0025 a0001c0002t0001g0007 a0001c0002t0001g0073 others(5): Show |
9 | 120 | 0.0750 | 7 | c.666 others(22): Show |
ICE2 | ENSG00000128915.12 | transcript | ENST00000261520.9 | protein_coding | 6/15 | chr15 | TogoVar | |||||||
ID2_chr2_8677056_8689461 | 8681786 | G | GCCGCTCC | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02109.hp2 HG02145.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 10 | 392 | 0.0255 | 7 | c.-38 others(16): Show |
ID2 | ENSG00000115738.10 | transcript | ENST00000396290.2 | protein_coding | 269 | chr2 | TogoVar | |||||||
IDE_chr10_92446684_92579093 | 92524454 | T | TTATATTA | intron_variant | MODIFIER | HG00408.hp1 HG01123.hp2 HG01175.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0013 | a0001c0001t0001g0155 a0001c0001t0002g0235 a0001c0001t0002g0257 others(34): Show |
37 | 306 | 0.1209 | 7 | c.661 others(24): Show |
IDE | ENSG00000119912.18 | transcript | ENST00000265986.11 | protein_coding | 4/24 | chr10 | TogoVar | |||||||
IDH3A_chr15_78144362_78176945 | 78158464 | T | TATATATA | intron_variant | MODIFIER | HG00423.hp2 HG01109.hp2 HG01167.hp1 others(17): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0003 | a0001c0002t0002g0008 a0001c0002t0002g0027 a0001c0003t0003g0002 others(8): Show |
20 | 266 | 0.0752 | 7 | c.174 others(22): Show |
IDH3A | ENSG00000166411.14 | transcript | ENST00000299518.7 | protein_coding | 3/10 | chr15 | TogoVar | |||||||
IDI2_chr10_1013910_1030859 | 1015473 | C | CCTGAGCT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00639.hp1 others(19): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0003t0006 | a0001c0001t0006g0003 a0001c0001t0006g0034 a0001c0001t0006g0169 others(1): Show |
22 | 432 | 0.0509 | 7 | c.*40 others(18): Show |
IDI2 | ENSG00000148377.6 | transcript | ENST00000277517.2 | protein_coding | 3436 | chr10 | TogoVar | |||||||
IDI2_chr10_1013910_1030859 | 1015605 | C | CCTGAGCT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00639.hp1 others(19): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0003t0006 | a0001c0001t0006g0003 a0001c0001t0006g0034 a0001c0001t0006g0169 others(1): Show |
22 | 432 | 0.0509 | 7 | c.*39 others(18): Show |
IDI2 | ENSG00000148377.6 | transcript | ENST00000277517.2 | protein_coding | 3304 | chr10 | TogoVar | |||||||
IDI2_chr10_1013910_1030859 | 1015612 | G | GCTGAGCA | downstream_gene_variant | MODIFIER | HG02818.hp2 HG02965.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 a0001c0001t0002g0109 a0001c0001t0002g0124 |
3 | 384 | 0.0078 | 7 | c.*39 others(18): Show |
IDI2 | ENSG00000148377.6 | transcript | ENST00000277517.2 | protein_coding | 3297 | chr10 | TogoVar | |||||||
IDNK_chr9_83618143_83649123 | 83631451 | G | GAAAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG01167.hp1 HG01169.hp2 others(40): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0003 | a0001c0001t0001a0001c0006t0001a0003c0003t0001 | a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0023 others(25): Show |
43 | 90 | 0.4778 | 7 | c.168 others(24): Show |
IDNK | ENSG00000148057.16 | transcript | ENST00000376419.5 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
IDO2_chr8_39929651_40021392 | 39941221 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00609.hp1 others(55): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0006a0001c0001t0007a0001c0001t0009others(10): Show | a0001c0001t0006g0189 a0001c0001t0006g0191 a0001c0001t0006g0211 others(55): Show |
58 | 148 | 0.3919 | 7 | c.-18 others(24): Show |
IDO2 | ENSG00000188676.15 | transcript | ENST00000502986.4 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
IDO2_chr8_39929651_40021392 | 39944275 | C | CACTAAAT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(269): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0007a0002c0002others(16): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(56): Show | a0001c0001t0001g0295 a0001c0001t0001g0323 a0001c0001t0001g0330 others(268): Show |
272 | 358 | 0.7598 | 7 | c.-17 others(24): Show |
IDO2 | ENSG00000188676.15 | transcript | ENST00000502986.4 | protein_coding | 1/10 | chr8 | TogoVar | |||||||
IDO2_chr8_39929651_40021392 | 39951275 | A | ATTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00558.hp1 others(63): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0007a0002c0002others(7): Show | a0001c0001t0006a0001c0001t0007a0001c0001t0009others(18): Show | a0001c0001t0006g0189 a0001c0001t0006g0191 a0001c0001t0006g0211 others(63): Show |
66 | 155 | 0.4258 | 7 | c.99+ others(22): Show |
IDO2 | ENSG00000188676.15 | transcript | ENST00000502986.4 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
IDO2_chr8_39929651_40021392 | 40004521 | C | CAGATGAT | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG01099.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0005a0001c0001t0009a0004c0004t0002 | a0001c0001t0005g0111 a0001c0001t0005g0136 a0001c0001t0005g0147 others(4): Show |
7 | 358 | 0.0196 | 7 | c.668 others(22): Show |
IDO2 | ENSG00000188676.15 | transcript | ENST00000502986.4 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
IDUA_chr4_982044_1009564 | 1009536 | T | TCCGCGCC | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(331): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0002a0001c0005others(31): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(31): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0023 others(281): Show |
334 | 425 | 0.7859 | 7 | c.*51 others(18): Show |
IDUA | ENSG00000127415.13 | transcript | ENST00000514224.2 | protein_coding | 4973 | chr4 | TogoVar | |||||||
IER3IP1_chr18_47147834_47181364 | 47168301 | C | CAAAAAAA | intron_variant | MODIFIER | HG00544.hp2 HG02922.hp2 HG03139.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0016 | a0001c0001t0001g0024 a0001c0001t0001g0063 a0001c0001t0011g0023 others(3): Show |
8 | 193 | 0.0415 | 7 | c.91+ others(22): Show |
IER3IP1 | ENSG00000134049.6 | transcript | ENST00000256433.6 | protein_coding | 1/2 | chr18 | TogoVar | |||||||
IFFO1_chr12_6534539_6561042 | 6558140 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00673.hp1 HG01243.hp2 others(28): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0031 a0001c0001t0001g0044 a0001c0001t0001g0049 others(18): Show |
31 | 114 | 0.2719 | 7 | c.-21 others(18): Show |
IFFO1 | ENSG00000010295.20 | transcript | ENST00000619571.5 | protein_coding | 2099 | chr12 | TogoVar | |||||||
IFI16_chr1_159004907_159060151 | 159046989 | C | CTTGCCTT | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(71): Show |
a0002a0003a0007others(3): Show | a0002c0002a0002c0023a0003c0004others(4): Show | a0002c0002t0001a0002c0002t0002a0002c0023t0002others(5): Show | a0002c0002t0001g0011 a0002c0002t0001g0036 a0002c0002t0001g0045 others(52): Show |
74 | 318 | 0.2327 | 7 | c.149 others(26): Show |
IFI16 | ENSG00000163565.20 | transcript | ENST00000295809.12 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IFI44_chr1_78644831_78669073 | 78666996 | A | AGCTTTGG | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(200): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0008 others(44): Show |
203 | 446 | 0.4552 | 7 | c.*31 others(18): Show |
IFI44 | ENSG00000137965.11 | transcript | ENST00000370747.9 | protein_coding | 2924 | chr1 | TogoVar | |||||||
IFIH1_chr2_162262074_162323684 | 162322414 | T | TTTATTTA | upstream_gene_variant | MODIFIER | HG02055.hp2 HG03098.hp1 HG03209.hp1 others(4): Show |
a0001 | a0001c0003a0001c0004a0001c0005 | a0001c0003t0001a0001c0004t0004a0001c0005t0001others(1): Show | a0001c0003t0001g0166 a0001c0004t0004g0007 a0001c0004t0004g0010 others(3): Show |
7 | 191 | 0.0366 | 7 | c.-41 others(18): Show |
IFIH1 | ENSG00000115267.10 | transcript | ENST00000649979.2 | protein_coding | 3731 | chr2 | TogoVar | |||||||
IFIT3_chr10_89322997_89345968 | 89326372 | A | AAGCTTTT | upstream_gene_variant | MODIFIER | HG00544.hp1 HG01255.hp1 NA18940.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0023 | a0001c0001t0002g0011 a0001c0001t0002g0048 a0001c0001t0002g0049 others(4): Show |
13 | 400 | 0.0325 | 7 | c.-17 others(18): Show |
IFIT3 | ENSG00000119917.15 | transcript | ENST00000371818.9 | protein_coding | 1624 | chr10 | TogoVar | |||||||
IFNA1_chr9_21435439_21446316 | 21443524 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00621.hp2 HG01256.hp1 HG02071.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0000 a0001c0001t0003g0000 |
7 | 133 | 0.0526 | 7 | c.*24 others(18): Show |
IFNA1 | ENSG00000197919.6 | transcript | ENST00000276927.3 | protein_coding | 2209 | chr9 | TogoVar | |||||||
IFNA4_chr9_21181618_21192587 | 21184322 | T | TTCCTTCC | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG01070.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 31 | 362 | 0.0856 | 7 | c.*26 others(18): Show |
IFNA4 | ENSG00000236637.5 | transcript | ENST00000421715.3 | protein_coding | 2295 | chr9 | TogoVar | |||||||
IFNA7_chr9_21196469_21207205 | 21197502 | A | AAAAAAAG | downstream_gene_variant | MODIFIER | HG01516.hp2 HG02280.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 7 | 306 | 0.0229 | 7 | c.*40 others(18): Show |
IFNA7 | ENSG00000214042.1 | transcript | ENST00000239347.3 | protein_coding | 3966 | chr9 | TogoVar | |||||||
IFNA8_chr9_21404117_21415185 | 21414994 | C | CAAAACAA | downstream_gene_variant | MODIFIER | HG00408.hp1 HG01074.hp2 HG02155.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0000 a0002c0002t0003g0000 |
9 | 378 | 0.0238 | 7 | c.*52 others(18): Show |
IFNA8 | ENSG00000120242.4 | transcript | ENST00000380205.2 | protein_coding | 4810 | chr9 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33361634 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01071.hp1 others(26): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0002a0002c0002t0006a0002c0002t0014others(4): Show | a0002c0002t0002g0001 a0002c0002t0002g0006 a0002c0002t0002g0030 others(21): Show |
29 | 133 | 0.2180 | 7 | c.*60 others(18): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1771 | chr21 | TogoVar | |||||||
IFNAR2_chr21_33224938_33270664 | 33226686 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00673.hp1 HG00741.hp1 others(45): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0005a0001c0001t0006a0001c0001t0014others(7): Show | a0001c0001t0005g0015 a0001c0001t0005g0029 a0001c0001t0005g0031 others(41): Show |
48 | 55 | 0.8727 | 7 | c.-36 others(18): Show |
IFNAR2 | ENSG00000159110.22 | transcript | ENST00000342136.9 | protein_coding | 3251 | chr21 | TogoVar | |||||||
IFNAR2_chr21_33224938_33270664 | 33242728 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG01516.hp1 HG01517.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0012a0002c0002t0013others(1): Show | a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0012g0039 others(5): Show |
8 | 154 | 0.0519 | 7 | c.55+ others(20): Show |
IFNAR2 | ENSG00000159110.22 | transcript | ENST00000342136.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
IFNE_chr9_21475839_21487313 | 21476081 | A | AAAAAAAC | downstream_gene_variant | MODIFIER | HG01496.hp2 HG02257.hp1 HG02273.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0000 a0001c0001t0007g0000 |
14 | 332 | 0.0422 | 7 | c.*49 others(18): Show |
IFNE | ENSG00000184995.7 | transcript | ENST00000448696.4 | protein_coding | 4757 | chr9 | TogoVar | |||||||
IFNE_chr9_21475839_21487313 | 21487305 | G | GTTTTTTT | upstream_gene_variant | MODIFIER | HG01123.hp1 HG01943.hp1 HG02258.hp1 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0002c0002t0003others(3): Show | a0001c0001t0002g0000 a0001c0001t0003g0000 a0002c0002t0003g0000 others(3): Show |
14 | 306 | 0.0458 | 7 | c.-56 others(18): Show |
IFNE | ENSG00000184995.7 | transcript | ENST00000448696.4 | protein_coding | 4993 | chr9 | TogoVar | |||||||
IFNGR1_chr6_137192485_137224385 | 137194099 | A | ATTTTTTT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG00735.hp2 others(49): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(4): Show | a0001c0001t0001g0005 a0001c0001t0001g0037 a0001c0001t0002g0027 others(33): Show |
52 | 116 | 0.4483 | 7 | c.*39 others(18): Show |
IFNGR1 | ENSG00000027697.16 | transcript | ENST00000367739.9 | protein_coding | 3385 | chr6 | TogoVar | |||||||
IFNGR2_chr21_33398413_33442516 | 33400305 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG00741.hp2 others(35): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0038 others(33): Show |
38 | 334 | 0.1138 | 7 | c.-32 others(18): Show |
IFNGR2 | ENSG00000159128.16 | transcript | ENST00000290219.11 | protein_coding | 3107 | chr21 | TogoVar | |||||||
IFNGR2_chr21_33398413_33442516 | 33401964 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG00735.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0021 others(8): Show |
15 | 16 | 0.9375 | 7 | c.-15 others(18): Show |
IFNGR2 | ENSG00000159128.16 | transcript | ENST00000290219.11 | protein_coding | 1448 | chr21 | TogoVar | |||||||
IFNL1_chr19_39291407_39303673 | 39302648 | T | TATATATA | downstream_gene_variant | MODIFIER | HG02818.hp1 HG03540.hp2 NA18955.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0010 a0002c0002t0001g0013 |
4 | 279 | 0.0143 | 7 | c.*41 others(18): Show |
IFNL1 | ENSG00000182393.3 | transcript | ENST00000333625.3 | protein_coding | 3976 | chr19 | TogoVar | |||||||
IFNLR1_chr1_24149168_24192289 | 24188357 | A | AGTGTGTG | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp2 others(91): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 others(84): Show |
94 | 114 | 0.8246 | 7 | c.-11 others(18): Show |
IFNLR1 | ENSG00000185436.12 | transcript | ENST00000327535.6 | protein_coding | 1069 | chr1 | TogoVar | |||||||
IFT52_chr20_43585937_43652299 | 43589325 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00741.hp2 HG01167.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0124 a0001c0001t0001g0134 others(20): Show |
23 | 126 | 0.1825 | 7 | c.-17 others(18): Show |
IFT52 | ENSG00000101052.13 | transcript | ENST00000373030.8 | protein_coding | 1611 | chr20 | TogoVar | |||||||
IFT56_chr7_139128778_139196986 | 139154966 | G | GTTTTTTT | intron_variant | MODIFIER | HG02258.hp1 HG02486.hp2 HG02572.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 others(4): Show |
7 | 328 | 0.0213 | 7 | c.718 others(24): Show |
IFT56 | ENSG00000105948.13 | transcript | ENST00000464848.5 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
IFT57_chr3_108155812_108227424 | 108210332 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00738.hp2 HG01070.hp2 others(20): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0016 | a0001c0002t0004g0013 a0001c0002t0004g0038 a0001c0002t0004g0039 others(19): Show |
23 | 202 | 0.1139 | 7 | c.585 others(24): Show |
IFT57 | ENSG00000114446.5 | transcript | ENST00000264538.4 | protein_coding | 4/10 | chr3 | TogoVar | |||||||
IFT57_chr3_108155812_108227424 | 108225332 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(135): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(119): Show |
138 | 253 | 0.5455 | 7 | c.-30 others(18): Show |
IFT57 | ENSG00000114446.5 | transcript | ENST00000264538.4 | protein_coding | 2909 | chr3 | TogoVar | |||||||
IFT74_chr9_26951412_27071134 | 27005352 | T | TCCCCCGC | intron_variant | MODIFIER | HG00597.hp1 HG01346.hp2 HG01934.hp2 others(20): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0003c0003t0002a0003c0003t0021 | a0002c0002t0002g0007 a0002c0002t0002g0009 a0002c0002t0002g0010 others(20): Show |
23 | 162 | 0.1420 | 7 | c.588 others(24): Show |
IFT74 | ENSG00000096872.17 | transcript | ENST00000380062.10 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
IFT74_chr9_26951412_27071134 | 27012708 | G | GTTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG03710.hp2 NA18967.hp2 others(7): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0003c0003t0002 | a0002c0002t0002g0042 a0002c0002t0002g0044 a0002c0002t0002g0066 others(7): Show |
10 | 138 | 0.0725 | 7 | c.789 others(22): Show |
IFT74 | ENSG00000096872.17 | transcript | ENST00000380062.10 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |