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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ITK_chr5_157175840_157260185 | 157233964 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01175.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0188 a0001c0001t0003g0025 |
2 | 280 | 0.0071 | 19 | c.768 others(36): Show |
ITK | ENSG00000113263.14 | transcript | ENST00000422843.8 | protein_coding | 8/16 | chr5 | TogoVar | |||||||
ITLN2_chr1_160940025_160959809 | 160942871 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 HG01517.hp1 HG02602.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0002c0006t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0079 others(2): Show |
10 | 197 | 0.0508 | 19 | c.*22 others(30): Show |
ITLN2 | ENSG00000158764.7 | transcript | ENST00000368029.4 | protein_coding | 2153 | chr1 | TogoVar | |||||||
ITPA_chr20_3204498_3228860 | 3207696 | A | AAAACAAC others(12): Show |
upstream_gene_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0210 | 1 | 287 | 0.0035 | 19 | c.-18 others(30): Show |
ITPA | ENSG00000125877.13 | transcript | ENST00000380113.8 | protein_coding | 1801 | chr20 | TogoVar | |||||||
ITPA_chr20_3204498_3228860 | 3207696 | A | ACAACAAC others(12): Show |
upstream_gene_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 287 | 0.0035 | 19 | c.-18 others(30): Show |
ITPA | ENSG00000125877.13 | transcript | ENST00000380113.8 | protein_coding | 1801 | chr20 | TogoVar | |||||||
ITPKA_chr15_41488874_41508551 | 41493577 | G | GAAGCCCG others(12): Show |
upstream_gene_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 424 | 0.0024 | 19 | c.-35 others(28): Show |
ITPKA | ENSG00000137825.11 | transcript | ENST00000260386.7 | protein_coding | 296 | chr15 | TogoVar | |||||||
ITPR1_chr3_4488348_4852506 | 4610999 | C | CTCCTTCT others(12): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01496.hp1 HG02148.hp1 |
a0001 | a0001c0009a0001c0014a0001c0100 | a0001c0009t0001a0001c0014t0001a0001c0100t0006 | a0001c0009t0001g0057 a0001c0014t0001g0064 a0001c0100t0006g0086 |
3 | 166 | 0.0181 | 19 | c.164 others(38): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 4/61 | chr3 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26412089 | T | TCCTCTCA others(12): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0040 | a0001c0040t0005 | a0001c0040t0005g0006 | 1 | 140 | 0.0071 | 19 | c.730 others(36): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 51/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26503190 | A | ACACACAC others(12): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0010 | a0002c0010t0016 | a0002c0010t0016g0014 | 1 | 15 | 0.0667 | 19 | c.507 others(38): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 37/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26760488 | A | AATCAGTT others(12): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(114): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(59): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(101): Show | a0001c0001t0001g0008 a0001c0001t0001g0041 a0001c0001t0001g0047 others(114): Show |
117 | 140 | 0.8357 | 19 | c.163 others(38): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 2/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26784357 | C | CTCTCGCT others(12): Show |
intron_variant | MODIFIER | HG01361.hp1 HG03492.hp1 |
a0001 | a0001c0025a0001c0064 | a0001c0025t0024a0001c0064t0008 | a0001c0025t0024g0139 a0001c0064t0008g0011 |
2 | 104 | 0.0192 | 19 | c.163 others(36): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 2/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26784363 | C | CTCTCCCT others(12): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00741.hp1 HG01081.hp2 others(12): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0012others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(9): Show | a0001c0001t0001g0072 a0001c0001t0003g0071 a0001c0001t0003g0095 others(12): Show |
15 | 62 | 0.2419 | 19 | c.163 others(36): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 2/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26786449 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0002 | a0001c0002t0036 | a0001c0002t0036g0024 | 1 | 23 | 0.0435 | 19 | c.163 others(36): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 2/56 | chr12 | TogoVar | |||||||
ITPR3_chr6_33616322_33701562 | 33623176 | T | TGGGGACT others(12): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0041 | a0002c0041t0001 | a0002c0041t0001g0300 | 1 | 340 | 0.0029 | 19 | c.89+ others(34): Show |
ITPR3 | ENSG00000096433.11 | transcript | ENST00000605930.3 | protein_coding | 1/57 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ITPRIPL2_chr16_19108964_19126629 | 19110393 | C | CAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0000 | 1 | 64 | 0.0156 | 19 | c.-40 others(30): Show |
ITPRIPL2 | ENSG00000205730.7 | transcript | ENST00000381440.5 | protein_coding | 3570 | chr16 | TogoVar | |||||||
ITPRIP_chr10_104304700_104343465 | 104309331 | T | TATATATA others(12): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 | 1 | 295 | 0.0034 | 19 | c.*50 others(30): Show |
ITPRIP | ENSG00000148841.17 | transcript | ENST00000337478.3 | protein_coding | 368 | chr10 | TogoVar | |||||||
ITSN1_chr21_33637501_33904861 | 33877059 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01928.hp1 HG02523.hp2 HG03017.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0093 a0001c0001t0002g0003 a0001c0001t0002g0018 others(4): Show |
7 | 37 | 0.1892 | 19 | c.434 others(38): Show |
ITSN1 | ENSG00000205726.15 | transcript | ENST00000381318.8 | protein_coding | 34/39 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ITSN2_chr2_24197864_24365536 | 24251309 | C | CAAAGAAA others(12): Show |
intron_variant | MODIFIER | NA19030.hp1 NA21309.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0146 a0003c0003t0001g0147 |
2 | 93 | 0.0215 | 19 | c.312 others(38): Show |
ITSN2 | ENSG00000198399.16 | transcript | ENST00000355123.9 | protein_coding | 25/39 | chr2 | TogoVar | |||||||
ITSN2_chr2_24197864_24365536 | 24251317 | A | AAATAAAA others(12): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0003 | a0003c0016 | a0003c0016t0001 | a0003c0016t0001g0201 | 1 | 214 | 0.0047 | 19 | c.312 others(38): Show |
ITSN2 | ENSG00000198399.16 | transcript | ENST00000355123.9 | protein_coding | 25/39 | chr2 | TogoVar | |||||||
ITSN2_chr2_24197864_24365536 | 24361740 | C | CAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG01074.hp1 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0022a0002c0002others(4): Show | a0001c0001t0001a0001c0022t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0051 a0001c0001t0001g0094 a0001c0001t0001g0100 others(20): Show |
23 | 38 | 0.6053 | 19 | c.-14 others(30): Show |
ITSN2 | ENSG00000198399.16 | transcript | ENST00000355123.9 | protein_coding | 1205 | chr2 | TogoVar | |||||||
IVD_chr15_40400795_40426308 | 40422585 | C | CTTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG01071.hp1 HG02129.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0023 | a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0012 others(3): Show |
7 | 13 | 0.5385 | 19 | c.*43 others(30): Show |
IVD | ENSG00000128928.10 | transcript | ENST00000487418.8 | protein_coding | 1278 | chr15 | TogoVar | |||||||
IYD_chr6_150364012_150410969 | 150388630 | G | GCTTTCTT others(12): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0003 | a0003c0003 | a0003c0003t0026 | a0003c0003t0026g0102 | 1 | 41 | 0.0244 | 19 | c.179 others(34): Show |
IYD | ENSG00000009765.15 | transcript | ENST00000344419.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
IZUMO3_chr9_24537952_24550897 | 24546498 | T | TTTTCTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 421 | 0.0024 | 19 | c.-85 others(28): Show |
IZUMO3 | ENSG00000205442.13 | transcript | ENST00000543880.7 | protein_coding | 602 | chr9 | TogoVar | |||||||
JAK1_chr1_64828229_64971549 | 64913655 | A | AGAAGGAA others(12): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0097 | 1 | 221 | 0.0045 | 19 | c.-77 others(38): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
JAK2_chr9_4980272_5134948 | 5062500 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03540.hp1 NA19030.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0004t0004 | a0001c0003t0001g0193 a0001c0004t0004g0049 |
2 | 100 | 0.0200 | 19 | c.105 others(38): Show |
JAK2 | ENSG00000096968.14 | transcript | ENST00000381652.4 | protein_coding | 8/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
JAK2_chr9_4980272_5134948 | 5103221 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0003 | a0001c0003t0038 | a0001c0003t0038g0007 | 1 | 29 | 0.0345 | 19 | c.305 others(40): Show |
JAK2 | ENSG00000096968.14 | transcript | ENST00000381652.4 | protein_coding | 22/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
JAKMIP1_chr4_6021199_6205549 | 6134853 | C | CCTAGCAT others(12): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0195 |
2 | 232 | 0.0086 | 19 | c.-14 others(40): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 1/20 | chr4 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6160948 | C | CCCCTGAC others(12): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02109.hp2 HG02451.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0142 a0001c0001t0001g0194 a0001c0001t0001g0204 others(2): Show |
5 | 230 | 0.0217 | 19 | c.-14 others(40): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 1/20 | chr4 | TogoVar | |||||||
JAKMIP2_chr5_147580438_147787728 | 147637437 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02083.hp2 NA18747.hp1 others(2): Show |
a0001 | a0001c0002a0001c0007a0001c0008 | a0001c0002t0005a0001c0007t0007a0001c0008t0001others(1): Show | a0001c0002t0005g0214 a0001c0007t0007g0168 a0001c0008t0001g0151 others(2): Show |
5 | 11 | 0.4545 | 19 | c.153 others(36): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 10/21 | chr5 | TogoVar | |||||||
JAKMIP2_chr5_147580438_147787728 | 147763537 | A | ATTAAATA others(12): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0003 | a0001c0003t0026 | a0001c0003t0026g0183 | 1 | 248 | 0.0040 | 19 | c.-14 others(40): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 1/21 | chr5 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132067677 | C | CTGTGTGG others(12): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0003 | a0003c0021 | a0003c0021t0001 | a0003c0021t0001g0032 | 1 | 156 | 0.0064 | 19 | c.-13 others(38): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 1/23 | chr10 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132068194 | A | ATGTGGAC others(12): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02717.hp2 HG03098.hp1 |
a0002 | a0002c0016a0002c0025a0002c0029 | a0002c0016t0006a0002c0025t0008a0002c0029t0014 | a0002c0016t0006g0052 a0002c0025t0008g0033 a0002c0029t0014g0053 |
3 | 156 | 0.0192 | 19 | c.-13 others(38): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132189594 | G | GTCACCCC others(12): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 HG01109.hp1 HG01256.hp1 others(1): Show |
a0005 | a0005c0012 | a0005c0012t0007a0005c0012t0031 | a0005c0012t0007g0045 a0005c0012t0007g0046 a0005c0012t0007g0048 others(1): Show |
4 | 156 | 0.0256 | 19 | c.*83 others(30): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 4737 | chr10 | TogoVar | |||||||
JAM2_chr21_25634258_25722562 | 25660782 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG03195.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0055 a0001c0001t0004g0093 |
2 | 145 | 0.0138 | 19 | c.67+ others(36): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
JAM2_chr21_25634258_25722562 | 25660782 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0117 | 1 | 144 | 0.0069 | 19 | c.67+ others(36): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
JAM2_chr21_25634258_25722562 | 25688243 | G | GTGTGTGT others(12): Show |
intron_variant | MODIFIER | NA18942.hp1 NA18945.hp1 NA18972.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0013a0001c0002t0016 | a0001c0002t0003g0307 a0001c0002t0003g0308 a0001c0002t0013g0195 others(1): Show |
4 | 129 | 0.0310 | 19 | c.134 others(36): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 2/9 | chr21 | TogoVar | |||||||
JARID2_chr6_15241069_15527042 | 15413002 | G | GTTGTTTT others(12): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0145 | 1 | 227 | 0.0044 | 19 | c.323 others(36): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
JARID2_chr6_15241069_15527042 | 15486806 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0109 a0001c0001t0008g0161 |
2 | 73 | 0.0274 | 19 | c.671 others(34): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
JAZF1_chr7_27825577_28185795 | 27858855 | G | GTTACATA others(12): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 204 | 0.0049 | 19 | c.386 others(38): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
JHY_chr11_122877759_122968862 | 122883115 | G | GGGGAGCG others(12): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0004 | a0002c0004t0014 | a0002c0004t0014g0312 | 1 | 330 | 0.0030 | 19 | c.-90 others(34): Show |
JHY | ENSG00000109944.11 | transcript | ENST00000227349.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
JHY_chr11_122877759_122968862 | 122922809 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0017 | a0001c0017t0021 | a0001c0017t0021g0039 | 1 | 140 | 0.0071 | 19 | c.865 others(36): Show |
JHY | ENSG00000109944.11 | transcript | ENST00000227349.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63292144 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01106.hp2 HG01255.hp2 others(10): Show |
a0002a0003a0008 | a0002c0002a0002c0025a0002c0037others(3): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(5): Show | a0002c0002t0001g0148 a0002c0002t0001g0157 a0002c0002t0001g0208 others(10): Show |
13 | 86 | 0.1512 | 19 | c.334 others(38): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD7_chr15_41823092_41842581 | 41833415 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 2 | 353 | 0.0057 | 19 | c.65- others(34): Show |
JMJD7 | ENSG00000243789.11 | transcript | ENST00000397299.9 | protein_coding | 1/7 | chr15 | TogoVar | |||||||
JMJD8_chr16_676670_689334 | 686566 | A | ACCCTGGA others(12): Show |
upstream_gene_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 362 | 0.0028 | 19 | c.-22 others(30): Show |
JMJD8 | ENSG00000161999.13 | transcript | ENST00000609261.6 | protein_coding | 2233 | chr16 | TogoVar | |||||||
JPH2_chr20_44101590_44192188 | 44134256 | A | AATATTTA others(12): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00621.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0089 a0001c0001t0004g0223 |
2 | 313 | 0.0064 | 19 | c.117 others(40): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
JPH2_chr20_44101590_44192188 | 44134256 | A | AATATTTA others(12): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0076 | 1 | 312 | 0.0032 | 19 | c.117 others(40): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
JPH3_chr16_87597508_87703156 | 87620488 | A | AGAGAAGG others(12): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00438.hp2 others(56): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0027others(21): Show | a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 others(56): Show |
59 | 374 | 0.1578 | 19 | c.382 others(38): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
JPH3_chr16_87597508_87703156 | 87659374 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 210 | 0.0048 | 19 | c.116 others(40): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
JRK_chr8_142652460_142674967 | 142656474 | T | TTTAAATG others(12): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(242): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0007a0001c0011others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(41): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(89): Show |
245 | 464 | 0.5280 | 19 | c.*78 others(30): Show |
JRK | ENSG00000234616.9 | transcript | ENST00000612905.2 | protein_coding | 985 | chr8 | TogoVar | |||||||
JTB_chr1_153969269_153982674 | 153980679 | T | TGTAACCC others(12): Show |
upstream_gene_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 384 | 0.0026 | 19 | c.-34 others(30): Show |
JTB | ENSG00000143543.15 | transcript | ENST00000271843.9 | protein_coding | 3006 | chr1 | TogoVar | |||||||
KALRN_chr3_124028369_124731325 | 124587698 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03540.hp2 NA19030.hp2 |
a0001 | a0001c0003a0001c0007a0001c0019 | a0001c0003t0001a0001c0007t0002a0001c0019t0004 | a0001c0003t0001g0049 a0001c0007t0002g0018 a0001c0019t0004g0103 |
3 | 44 | 0.0682 | 19 | c.518 others(40): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 34/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |