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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ITGA8_chr10_15508954_15724922 | 15694563 | T | TAATATAT others(2): Show |
intron_variant | MODIFIER | HG00621.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0127 a0001c0001t0003g0076 |
2 | 218 | 0.0092 | 9 | c.344 others(26): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 2/29 | chr10 | TogoVar | |||||||
ITGA8_chr10_15508954_15724922 | 15708122 | C | CATCTGCC others(2): Show |
intron_variant | MODIFIER | HG01934.hp1 NA18940.hp1 |
a0001a0016 | a0001c0001a0016c0018 | a0001c0001t0001a0016c0018t0001 | a0001c0001t0001g0134 a0016c0018t0001g0054 |
2 | 218 | 0.0092 | 9 | c.343 others(28): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 2/29 | chr10 | TogoVar | |||||||
ITGA8_chr10_15508954_15724922 | 15720862 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00621.hp2 others(14): Show |
a0001a0002a0006 | a0001c0001a0001c0020a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0108 a0001c0001t0001g0134 a0001c0001t0001g0164 others(14): Show |
17 | 122 | 0.1393 | 9 | c.-10 others(20): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 941 | chr10 | TogoVar | |||||||
ITGA9_chr3_37447141_37828507 | 37466483 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01074.hp2 HG01167.hp2 others(27): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(24): Show | a0001c0001t0001g0133 a0001c0001t0001g0144 a0001c0001t0004g0134 others(27): Show |
30 | 52 | 0.5769 | 9 | c.186 others(26): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37758329 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02083.hp1 HG02083.hp2 HG02572.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0003g0035 a0001c0001t0003g0091 a0001c0001t0004g0074 others(6): Show |
9 | 24 | 0.3750 | 9 | c.254 others(28): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31262328 | C | CTCCCTTC others(2): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02723.hp2 HG02965.hp2 others(4): Show |
a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0157 a0001c0005t0004g0158 a0001c0005t0004g0159 others(4): Show |
7 | 242 | 0.0289 | 9 | c.134 others(24): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31327619 | T | TAATAATA others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02280.hp2 others(2): Show |
a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0148 a0001c0005t0004g0149 a0001c0005t0004g0150 others(2): Show |
5 | 225 | 0.0222 | 9 | c.270 others(26): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 22/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGB3_chr17_47248827_47318743 | 47308160 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG00738.hp1 others(55): Show |
a0001a0004a0008 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0031others(9): Show | a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0003g0132 others(42): Show |
58 | 189 | 0.3069 | 9 | c.230 others(26): Show |
ITGB3 | ENSG00000259207.10 | transcript | ENST00000559488.7 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGB6_chr2_160094671_160205272 | 160159836 | T | TTTCCATT others(2): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG02818.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0307 a0001c0001t0007g0308 a0001c0001t0007g0309 others(2): Show |
5 | 356 | 0.0140 | 9 | c.101 others(28): Show |
ITGB6 | ENSG00000115221.12 | transcript | ENST00000283249.7 | protein_coding | 7/14 | chr2 | TogoVar | |||||||
ITGB8_chr7_20325900_20420754 | 20360348 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(136): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(31): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(124): Show |
139 | 151 | 0.9205 | 9 | c.128 others(26): Show |
ITGB8 | ENSG00000105855.10 | transcript | ENST00000222573.5 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ITGB8_chr7_20325900_20420754 | 20370600 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG03471.hp2 HG03492.hp2 NA19077.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0013a0001c0004t0038 | a0001c0001t0002g0098 a0001c0001t0013g0035 a0001c0004t0038g0282 |
3 | 144 | 0.0208 | 9 | c.388 others(26): Show |
ITGB8 | ENSG00000105855.10 | transcript | ENST00000222573.5 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ITGBL1_chr13_101447675_101721446 | 101709371 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02280.hp2 HG02809.hp2 others(4): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0001c0009others(2): Show | a0001c0001t0001a0001c0005t0001a0001c0009t0001others(2): Show | a0001c0001t0001g0078 a0001c0005t0001g0033 a0001c0009t0001g0259 others(4): Show |
7 | 51 | 0.1373 | 9 | c.127 others(28): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ITIH2_chr10_7698316_7754520 | 7724570 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00597.hp2 others(80): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0011others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(9): Show | a0001c0001t0001g0254 a0001c0002t0001g0001 a0001c0002t0001g0003 others(72): Show |
83 | 178 | 0.4663 | 9 | c.984 others(26): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITIH2_chr10_7698316_7754520 | 7737686 | T | TTATATTC others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG01517.hp2 others(21): Show |
a0001a0005 | a0001c0001a0001c0022a0005c0006 | a0001c0001t0001a0001c0022t0001a0005c0006t0001 | a0001c0001t0001g0015 a0001c0001t0001g0049 a0001c0001t0001g0058 others(21): Show |
24 | 322 | 0.0745 | 9 | c.195 others(26): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITIH2_chr10_7698316_7754520 | 7737710 | T | TTATATTC others(2): Show |
intron_variant | MODIFIER | HG02074.hp2 NA18953.hp1 NA18989.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0089 others(3): Show |
6 | 361 | 0.0166 | 9 | c.195 others(26): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITIH2_chr10_7698316_7754520 | 7748521 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(25): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0014others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(6): Show | a0001c0001t0001g0015 a0001c0001t0001g0056 a0001c0001t0001g0058 others(25): Show |
28 | 43 | 0.6512 | 9 | c.269 others(26): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITIH5_chr10_7554270_7671966 | 7567319 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00558.hp2 others(78): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0006a0001c0067others(28): Show | a0001c0001t0001a0001c0001t0018a0001c0001t0043others(45): Show | a0001c0001t0001g0019 a0001c0001t0001g0037 a0001c0001t0001g0161 others(78): Show |
81 | 123 | 0.6585 | 9 | c.215 others(26): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 12/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7644512 | T | TATATATC others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG03492.hp1 others(6): Show |
a0001a0002a0003others(3): Show | a0001c0006a0001c0032a0002c0003others(5): Show | a0001c0006t0001a0001c0032t0001a0002c0003t0003others(5): Show | a0001c0006t0001g0057 a0001c0006t0001g0089 a0001c0032t0001g0277 others(6): Show |
9 | 336 | 0.0268 | 9 | c.136 others(26): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 2/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7644577 | C | CATATATA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(61): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0023a0001c0067others(12): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0023others(19): Show | a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0028 others(60): Show |
64 | 334 | 0.1916 | 9 | c.136 others(26): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 2/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7644619 | T | TATATCAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(61): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0023a0001c0067others(12): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0023others(19): Show | a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0028 others(60): Show |
64 | 331 | 0.1934 | 9 | c.136 others(26): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 2/13 | chr10 | TogoVar | |||||||
ITK_chr5_157175840_157260185 | 157233964 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01496.hp1 HG02683.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0002a0002c0006t0001 | a0001c0001t0001g0001 a0001c0001t0001g0084 a0001c0001t0001g0240 others(4): Show |
7 | 285 | 0.0246 | 9 | c.768 others(26): Show |
ITK | ENSG00000113263.14 | transcript | ENST00000422843.8 | protein_coding | 8/16 | chr5 | TogoVar | |||||||
ITM2B_chr13_48228206_48275357 | 48229672 | C | CTCTCTCT others(2): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 HG01081.hp2 HG01256.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0018others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0057 a0001c0001t0001g0066 others(6): Show |
13 | 138 | 0.0942 | 9 | c.-36 others(20): Show |
ITM2B | ENSG00000136156.15 | transcript | ENST00000647800.2 | protein_coding | 3533 | chr13 | TogoVar | |||||||
ITM2B_chr13_48228206_48275357 | 48229672 | C | CTCTCTTT others(2): Show |
upstream_gene_variant | MODIFIER | NA18612.hp1 NA18950.hp1 NA18964.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0057 | a0001c0002t0004g0006 a0001c0002t0004g0015 a0001c0002t0057g0006 |
7 | 132 | 0.0530 | 9 | c.-36 others(20): Show |
ITM2B | ENSG00000136156.15 | transcript | ENST00000647800.2 | protein_coding | 3533 | chr13 | TogoVar | |||||||
ITPA_chr20_3204498_3228860 | 3216157 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02630.hp2 HG02647.hp2 others(9): Show |
a0001 | a0001c0003a0001c0009 | a0001c0003t0001a0001c0009t0001 | a0001c0003t0001g0007 a0001c0003t0001g0055 a0001c0003t0001g0058 others(5): Show |
12 | 174 | 0.0690 | 9 | c.295 others(24): Show |
ITPA | ENSG00000125877.13 | transcript | ENST00000380113.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ITPK1_chr14_92931914_93120925 | 93032350 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01981.hp2 HG02486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0026a0001c0001t0051 | a0001c0001t0002g0032 a0001c0001t0026g0157 a0001c0001t0026g0173 others(1): Show |
4 | 78 | 0.0513 | 9 | c.121 others(28): Show |
ITPK1 | ENSG00000100605.17 | transcript | ENST00000267615.11 | protein_coding | 3/10 | chr14 | TogoVar | |||||||
ITPKB_chr1_226626690_226744282 | 226733582 | A | ACACACAC others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG01517.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0055 a0002c0002t0002g0059 a0002c0002t0003g0056 others(4): Show |
7 | 348 | 0.0201 | 9 | c.193 others(28): Show |
ITPKB | ENSG00000143772.11 | transcript | ENST00000429204.6 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
ITPKC_chr19_40712112_40745860 | 40719367 | G | GAATAATA others(2): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02965.hp1 HG03098.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0115 a0001c0002t0001g0016 a0001c0002t0001g0116 others(1): Show |
6 | 207 | 0.0290 | 9 | c.115 others(28): Show |
ITPKC | ENSG00000086544.4 | transcript | ENST00000263370.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26666162 | A | ATAGATAG others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01074.hp2 others(10): Show |
a0001 | a0001c0007a0001c0013a0001c0019others(7): Show | a0001c0007t0005a0001c0013t0022a0001c0019t0005others(9): Show | a0001c0007t0005g0048 a0001c0013t0022g0122 a0001c0013t0022g0131 others(10): Show |
13 | 34 | 0.3824 | 9 | c.141 others(26): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 13/56 | chr12 | TogoVar | |||||||
ITPRID1_chr7_31509090_31661504 | 31618664 | G | GGTTTCTA others(2): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01167.hp1 HG01169.hp1 others(13): Show |
a0003a0004a0005others(2): Show | a0003c0012a0004c0017a0005c0009others(5): Show | a0003c0012t0011a0004c0017t0011a0005c0009t0004others(7): Show | a0003c0012t0011g0289 a0004c0017t0011g0302 a0004c0017t0011g0303 others(12): Show |
16 | 310 | 0.0516 | 9 | c.122 others(30): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 10/14 | chr7 | TogoVar | |||||||
ITSN2_chr2_24197864_24365536 | 24361740 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG02257.hp2 HG02559.hp1 others(10): Show |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0001a0004c0004t0001 | a0003c0003t0001g0001 a0003c0003t0001g0038 a0003c0003t0001g0142 others(9): Show |
13 | 28 | 0.4643 | 9 | c.-14 others(20): Show |
ITSN2 | ENSG00000198399.16 | transcript | ENST00000355123.9 | protein_coding | 1205 | chr2 | TogoVar | |||||||
IZUMO2_chr19_50147548_50168281 | 50163754 | G | GTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG01167.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0008 a0001c0002t0001g0127 a0001c0002t0001g0129 others(2): Show |
8 | 170 | 0.0471 | 9 | c.-56 others(18): Show |
IZUMO2 | ENSG00000161652.13 | transcript | ENST00000293405.8 | protein_coding | 474 | chr19 | TogoVar | |||||||
JADE1_chr4_128804700_128880224 | 128814617 | A | AGTGCAAT others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01071.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0026 a0001c0001t0001g0167 a0001c0001t0001g0169 others(2): Show |
6 | 276 | 0.0217 | 9 | c.-27 others(26): Show |
JADE1 | ENSG00000077684.16 | transcript | ENST00000226319.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
JADE2_chr5_134520670_134588227 | 134531883 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG01261.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0022others(9): Show | a0001c0001t0002g0244 a0001c0001t0005g0254 a0001c0001t0005g0255 others(13): Show |
16 | 119 | 0.1345 | 9 | c.1-3 others(22): Show |
JADE2 | ENSG00000043143.22 | transcript | ENST00000681547.2 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
JADE2_chr5_134520670_134588227 | 134587533 | A | AAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG00642.hp2 others(15): Show |
a0001a0005 | a0001c0001a0005c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(3): Show | a0001c0001t0001g0014 a0001c0001t0001g0138 a0001c0001t0002g0005 others(14): Show |
18 | 377 | 0.0477 | 9 | c.*82 others(20): Show |
JADE2 | ENSG00000043143.22 | transcript | ENST00000681547.2 | protein_coding | 4307 | chr5 | TogoVar | |||||||
JAG2_chr14_105135995_105173776 | 105151213 | C | CGCAGCCC others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(191): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0009a0001c0010others(19): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(32): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0013 others(150): Show |
194 | 356 | 0.5449 | 9 | c.126 others(24): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 9/25 | chr14 | TogoVar | |||||||
JAG2_chr14_105135995_105173776 | 105151222 | A | AGCAGCCC others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 NA18612.hp1 others(8): Show |
a0004a0006a0011 | a0004c0004a0006c0008a0011c0028 | a0004c0004t0001a0006c0008t0001a0011c0028t0001 | a0004c0004t0001g0004 a0004c0004t0001g0159 a0004c0004t0001g0160 others(3): Show |
11 | 353 | 0.0312 | 9 | c.126 others(24): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 9/25 | chr14 | TogoVar | |||||||
JAK1_chr1_64828229_64971549 | 64928786 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(12): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0002a0001c0003t0001 | a0001c0002t0001g0230 a0001c0002t0002g0239 a0001c0002t0002g0274 others(12): Show |
15 | 323 | 0.0464 | 9 | c.-78 others(28): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
JAK1_chr1_64828229_64971549 | 64970134 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG01069.hp1 HG01106.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0117 others(21): Show |
24 | 34 | 0.7059 | 9 | c.-38 others(20): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 3586 | chr1 | TogoVar | |||||||
JAK2_chr9_4980272_5134948 | 5131435 | A | ATTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG01070.hp1 HG01109.hp2 others(22): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0005a0001c0002t0002a0001c0002t0005others(9): Show | a0001c0001t0005g0065 a0001c0001t0005g0066 a0001c0002t0002g0094 others(22): Show |
25 | 240 | 0.1042 | 9 | c.*46 others(20): Show |
JAK2 | ENSG00000096968.14 | transcript | ENST00000381652.4 | protein_coding | 1488 | chr9 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6125846 | C | CACACACC others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00609.hp1 others(69): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(69): Show |
72 | 232 | 0.3103 | 9 | c.-14 others(30): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 1/20 | chr4 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6169603 | T | TGTGTGTG others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02647.hp1 HG02818.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0002t0001g0009 others(3): Show |
6 | 61 | 0.0984 | 9 | c.-14 others(30): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 1/20 | chr4 | TogoVar | |||||||
JAKMIP2_chr5_147580438_147787728 | 147637437 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00673.hp2 HG02083.hp1 others(17): Show |
a0001 | a0001c0002a0001c0003a0001c0017 | a0001c0002t0001a0001c0003t0012a0001c0003t0014others(9): Show | a0001c0002t0001g0085 a0001c0003t0012g0049 a0001c0003t0012g0061 others(17): Show |
20 | 26 | 0.7692 | 9 | c.153 others(26): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 10/21 | chr5 | TogoVar | |||||||
JAKMIP2_chr5_147580438_147787728 | 147680192 | C | CTATGGAT others(2): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02559.hp1 HG02572.hp2 others(2): Show |
a0001 | a0001c0003a0001c0005a0001c0015 | a0001c0003t0001a0001c0003t0031a0001c0003t0071others(2): Show | a0001c0003t0001g0006 a0001c0003t0031g0097 a0001c0003t0071g0186 others(2): Show |
5 | 248 | 0.0202 | 9 | c.-14 others(28): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 1/21 | chr5 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132097968 | T | TTTCCCTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00544.hp1 others(60): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0013others(24): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(40): Show | a0001c0001t0002g0115 a0001c0001t0002g0133 a0001c0001t0004g0128 others(60): Show |
63 | 130 | 0.4846 | 9 | c.-13 others(28): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 1/23 | chr10 | TogoVar | |||||||
JAM2_chr21_25634258_25722562 | 25660782 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 NA18945.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(3): Show | a0001c0001t0001g0196 a0001c0001t0001g0234 a0001c0002t0001g0211 others(9): Show |
12 | 155 | 0.0774 | 9 | c.67+ others(26): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
JAM2_chr21_25634258_25722562 | 25660783 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00558.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(3): Show | a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 others(18): Show |
21 | 302 | 0.0695 | 9 | c.67+ others(26): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 1/9 | chr21 | TogoVar | |||||||
JARID2_chr6_15241069_15527042 | 15415554 | G | GGGGGGCT others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01255.hp2 HG01891.hp1 others(12): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0015a0001c0001t0040others(2): Show | a0001c0001t0002g0025 a0001c0001t0002g0040 a0001c0001t0002g0093 others(12): Show |
15 | 282 | 0.0532 | 9 | c.323 others(26): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 3/17 | chr6 | TogoVar | |||||||
JARID2_chr6_15241069_15527042 | 15486806 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01074.hp1 HG01168.hp1 others(31): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0010a0001c0002t0004others(11): Show | a0001c0001t0002g0025 a0001c0001t0002g0095 a0001c0001t0002g0098 others(31): Show |
34 | 105 | 0.3238 | 9 | c.671 others(24): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
JARID2_chr6_15241069_15527042 | 15494413 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01255.hp2 HG01884.hp2 others(20): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0015a0001c0002t0005others(9): Show | a0001c0001t0002g0025 a0001c0001t0002g0040 a0001c0001t0015g0145 others(20): Show |
23 | 82 | 0.2805 | 9 | c.907 others(26): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
JAZF1_chr7_27825577_28185795 | 27845711 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01069.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0038 others(25): Show |
28 | 126 | 0.2222 | 9 | c.386 others(26): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 3/4 | chr7 | TogoVar |