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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IARS1_chr9_92205207_92298697 | 92296712 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00741.hp1 others(85): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(6): Show | a0001c0001t0001g0004a0001c0001t0001g0013a0001c0001t0001g0151others(82): Show | 88 | 338 | 0.2604 | 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 | a0001c0001t0003a0007c0008t0019 | a0001c0001t0003g0018a0001c0001t0003g0058a0001c0001t0003g0060others(3): Show | 7 | 452 | 0.0155 | 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 | a0001c0001t0010g0025a0001c0002t0001g0007a0001c0002t0001g0073others(5): Show | 9 | 270 | 0.0333 | 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 | 394 | 0.0254 | 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 | a0001c0001t0001g0155a0001c0001t0002g0235a0001c0001t0002g0257others(34): Show | 37 | 314 | 0.1178 | 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 | a0001c0002t0002g0028a0001c0002t0002g0120a0001c0003t0003g0006others(8): Show | 20 | 386 | 0.0518 | 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 | a0001c0001t0005a0001c0003t0005 | a0001c0001t0005g0003a0001c0001t0005g0034a0001c0001t0005g0171others(1): Show | 22 | 434 | 0.0507 | 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 | a0001c0001t0005a0001c0003t0005 | a0001c0001t0005g0003a0001c0001t0005g0034a0001c0001t0005g0171others(1): Show | 22 | 434 | 0.0507 | 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 | a0001c0001t0002g0070a0001c0001t0002g0114a0001c0001t0002g0126 | 3 | 434 | 0.0069 | 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 | a0001c0001t0001g0002a0001c0001t0001g0020a0001c0001t0001g0022others(25): Show | 43 | 332 | 0.1295 | 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 | a0001c0001t0006g0189a0001c0001t0006g0191a0001c0001t0006g0211others(55): Show | 58 | 360 | 0.1611 | 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(270): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0007a0002c0002others(16): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(56): Show | a0001c0001t0001g0295a0001c0001t0001g0323a0001c0001t0001g0330others(269): Show | 273 | 360 | 0.7583 | 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 | a0001c0001t0006g0189a0001c0001t0006g0191a0001c0001t0006g0211others(63): Show | 66 | 360 | 0.1833 | 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 | a0001c0001t0005g0113a0001c0001t0005g0138a0001c0001t0005g0148others(4): Show | 7 | 360 | 0.0194 | 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 | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0023others(281): Show | 334 | 426 | 0.7840 | 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 | a0001c0001t0001g0025a0001c0001t0001g0067a0001c0001t0011g0065others(4): Show | 8 | 378 | 0.0212 | 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 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0031a0001c0001t0001g0044a0001c0001t0001g0049others(18): Show | 31 | 438 | 0.0708 | 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 | a0002c0002a0002c0024a0003c0005others(4): Show | a0002c0002t0001a0002c0002t0002a0002c0024t0002others(5): Show | a0002c0002t0001g0008a0002c0002t0001g0034a0002c0002t0001g0043others(52): Show | 74 | 320 | 0.2313 | 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 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(44): Show | 203 | 448 | 0.4531 | 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 | a0001c0003t0001g0176a0001c0004t0004g0006a0001c0004t0004g0017others(3): Show | 7 | 220 | 0.0318 | 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 | a0001c0001t0002g0011a0001c0001t0002g0048a0001c0001t0002g0049others(4): Show | 13 | 402 | 0.0323 | 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 | a0001c0001t0001g0000a0001c0001t0003g0000 | 7 | 450 | 0.0156 | 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 | 428 | 0.0724 | 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 | 456 | 0.0154 | 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 | a0001c0001t0001g0000a0002c0002t0003g0000 | 9 | 458 | 0.0197 | 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 | a0002c0002t0002g0001a0002c0002t0002g0006a0002c0002t0002g0030others(21): Show | 29 | 323 | 0.0898 | 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 | a0001c0001t0005g0025a0001c0001t0005g0027a0001c0001t0005g0138others(42): Show | 48 | 424 | 0.1132 | 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(6): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0012a0002c0002t0013others(1): Show | a0002c0002t0002g0035a0002c0002t0002g0036a0002c0002t0012g0034others(6): Show | 9 | 424 | 0.0212 | 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 | a0001c0001t0002g0000a0001c0001t0007g0000 | 14 | 450 | 0.0311 | 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 | a0001c0001t0002g0000a0001c0001t0003g0000a0002c0002t0003g0000others(3): Show | 14 | 450 | 0.0311 | 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 | a0001c0001t0001g0006a0001c0001t0001g0041a0001c0001t0002g0029others(33): Show | 52 | 390 | 0.1333 | 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 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0036others(33): Show | 38 | 386 | 0.0985 | 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(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0004a0001c0001t0002g0008a0001c0001t0002g0021others(10): Show | 16 | 386 | 0.0415 | 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 | a0002c0002t0001g0010a0002c0002t0001g0013 | 4 | 302 | 0.0133 | 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 | a0001c0001t0001g0122a0001c0001t0001g0123a0001c0001t0001g0125others(85): Show | 94 | 396 | 0.2374 | 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 | a0001c0001t0001g0013a0001c0001t0001g0125a0001c0001t0001g0133others(20): Show | 23 | 300 | 0.0767 | 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 | a0001c0002t0005a0001c0002t0011 | a0001c0002t0005g0133a0001c0002t0005g0134a0001c0002t0005g0135others(4): Show | 7 | 330 | 0.0212 | 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 | a0001c0002t0004g0008a0001c0002t0004g0032a0001c0002t0004g0033others(19): Show | 23 | 354 | 0.0650 | 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 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(119): Show | 138 | 354 | 0.3898 | 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 | a0002c0002t0002g0006a0002c0002t0002g0008a0002c0002t0002g0009others(20): Show | 23 | 342 | 0.0673 | 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 | a0002c0002t0002g0041a0002c0002t0002g0043a0002c0002t0002g0065others(7): Show | 10 | 342 | 0.0292 | 7 | c.789 others(22): Show |
IFT74 | ENSG00000096872.17 | transcript | ENST00000380062.10 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
IFT80_chr3_160251986_160404225 | 160312925 | A | AAATATAT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(65): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0168a0001c0001t0001g0169others(64): Show | 68 | 212 | 0.3208 | 7 | c.958 others(24): Show |
IFT80 | ENSG00000068885.15 | transcript | ENST00000326448.12 | protein_coding | 9/19 | chr3 | TogoVar | ||||||
IFT80_chr3_160251986_160404225 | 160399889 | A | ACCCCTCC | upstream_gene_variant | MODIFIER | HG01069.hp2 HG02717.hp2 HG02886.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0004a0002c0002t0002g0028a0002c0002t0002g0048others(2): Show | 6 | 212 | 0.0283 | 7 | c.-79 others(16): Show |
IFT80 | ENSG00000068885.15 | transcript | ENST00000326448.12 | protein_coding | 665 | chr3 | TogoVar | ||||||
IFT81_chr12_110119357_110223793 | 110139854 | A | AATAAAAT | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG00741.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179a0001c0001t0002g0192a0001c0001t0002g0193others(15): Show | 18 | 218 | 0.0826 | 7 | c.781 others(24): Show |
IFT81 | ENSG00000122970.16 | transcript | ENST00000242591.10 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IFT88_chr13_20562157_20696444 | 20570819 | C | CTGAATTA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(264): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0010others(260): Show | 267 | 308 | 0.8669 | 7 | c.-6- others(22): Show |
IFT88 | ENSG00000032742.18 | transcript | ENST00000351808.10 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
IFT88_chr13_20562157_20696444 | 20614817 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(81): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(80): Show | 84 | 308 | 0.2727 | 7 | c.111 others(24): Show |
IFT88 | ENSG00000032742.18 | transcript | ENST00000351808.10 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
IFT88_chr13_20562157_20696444 | 20621526 | T | TAAAAAAA | intron_variant | MODIFIER | HG00741.hp1 HG01169.hp1 HG01975.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0058a0002c0002t0001g0145a0002c0002t0001g0146others(4): Show | 7 | 308 | 0.0227 | 7 | c.120 others(26): Show |
IFT88 | ENSG00000032742.18 | transcript | ENST00000351808.10 | protein_coding | 14/25 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
IFTAP_chr11_36589502_36664272 | 36622083 | A | ATTTTTTT | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG00738.hp2 others(28): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0002a0005c0005t0002 | a0001c0001t0002g0016a0001c0001t0002g0031a0001c0001t0002g0032others(23): Show | 31 | 358 | 0.0866 | 7 | c.137 others(26): Show |
IFTAP | ENSG00000166352.18 | transcript | ENST00000334307.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
IGBP1_chrX_70128447_70171324 | 70154714 | C | CAAAAAAA | intron_variant | MODIFIER | HG02896.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | 245 | 0.0082 | 7 | c.871 others(24): Show |
IGBP1 | ENSG00000089289.16 | transcript | ENST00000356413.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
IGBP1_chrX_70128447_70171324 | 70166787 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00621.hp1 HG00642.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0012others(24): Show | 29 | 245 | 0.1184 | 7 | c.*80 others(16): Show |
IGBP1 | ENSG00000089289.16 | transcript | ENST00000356413.5 | protein_coding | 464 | chrX | TogoVar |