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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
INSC_chr11_15109923_15252208 | 15210371 | A | AGCCTGTT others(41): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0010 | 1 | 168 | 0.0060 | 48 | c.819 others(65): Show |
INSC | ENSG00000188487.12 | transcript | ENST00000379556.8 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
INSR_chr19_7107265_7299414 | 7136828 | C | CATATATA others(41): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0006 | a0001c0006t0075 | a0001c0006t0075g0084 | 1 | 8 | 0.1250 | 48 | c.268 others(67): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 13/21 | chr19 | TogoVar | |||||||
INTS11_chr1_1306600_1329660 | 1324172 | G | GGGGCTCG others(41): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(31): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0014 | a0001c0001t0001a0001c0003t0001a0002c0014t0001 | a0001c0001t0001g0038 a0001c0003t0001g0005 a0001c0003t0001g0012 others(14): Show |
34 | 161 | 0.2112 | 48 | c.28+ others(61): Show |
INTS11 | ENSG00000127054.22 | transcript | ENST00000435064.6 | protein_coding | 1/16 | chr1 | TogoVar | |||||||
INTS4_chr11_77873720_77999668 | 77920206 | C | CACACATA others(41): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0133 | 1 | 223 | 0.0045 | 48 | c.176 others(67): Show |
INTS4 | ENSG00000149262.19 | transcript | ENST00000534064.6 | protein_coding | 14/22 | chr11 | TogoVar | |||||||
INTU_chr4_127627957_127731737 | 127691980 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0005 | a0005c0008 | a0005c0008t0019 | a0005c0008t0019g0136 | 1 | 351 | 0.0028 | 48 | c.144 others(67): Show |
INTU | ENSG00000164066.13 | transcript | ENST00000335251.11 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
INTU_chr4_127627957_127731737 | 127691980 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0135 | 1 | 351 | 0.0028 | 48 | c.144 others(67): Show |
INTU | ENSG00000164066.13 | transcript | ENST00000335251.11 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
IPCEF1_chr6_154149496_154361803 | 154354415 | A | ACCTCCAC others(41): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 147 | 0.0068 | 48 | c.-62 others(65): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
IPCEF1_chr6_154149496_154361803 | 154354415 | A | ACCTCCAC others(41): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG00733.hp2 others(35): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0009 others(35): Show |
38 | 184 | 0.2065 | 48 | c.-62 others(65): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
IPCEF1_chr6_154149496_154361803 | 154354447 | C | CACCACCT others(41): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 200 | 0.0050 | 48 | c.-62 others(65): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
IPCEF1_chr6_154149496_154361803 | 154354447 | C | CACCACCT others(41): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00738.hp1 others(22): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0054 others(22): Show |
25 | 224 | 0.1116 | 48 | c.-62 others(65): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
IPO11_chr5_62407763_62633582 | 62435210 | G | GTATATAT others(41): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 180 | 0.0056 | 48 | c.-6- others(63): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IPO11_chr5_62407763_62633582 | 62470816 | C | CTTTTTTT others(41): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 15 | 0.0667 | 48 | c.708 others(63): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IPO7_chr11_9379652_9453127 | 9397341 | A | AAAAAAAA others(41): Show |
intron_variant | MODIFIER | HG00738.hp1 NA18979.hp1 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0092 |
3 | 27 | 0.1111 | 48 | c.85- others(63): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IQCA1L_chr7_151185873_151210496 | 151200912 | C | CTCTCCCA others(41): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03471.hp1 NA18612.hp2 |
a0018a0027 | a0018c0073a0027c0092a0027c0093 | a0018c0073t0001a0027c0092t0001a0027c0093t0001 | a0018c0073t0001g0119 a0027c0092t0001g0097 a0027c0093t0001g0096 |
3 | 446 | 0.0067 | 48 | c.646 others(63): Show |
IQCA1L | ENSG00000278685.4 | transcript | ENST00000615129.4 | protein_coding | 4/18 | chr7 | TogoVar | |||||||
IQCG_chr3_197884077_197964991 | 197887683 | G | GGGGGCTG others(41): Show |
downstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 173 | 0.0058 | 48 | c.*18 others(59): Show |
IQCG | ENSG00000114473.14 | transcript | ENST00000265239.11 | protein_coding | 1393 | chr3 | TogoVar | |||||||
IQCK_chr16_19713271_19863467 | 19798421 | A | AAAAAAAA others(41): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0033 | 1 | 161 | 0.0062 | 48 | c.690 others(65): Show |
IQCK | ENSG00000174628.17 | transcript | ENST00000695302.1 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
IQCM_chr4_149346709_149820843 | 149368760 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01952.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 a0001c0001t0001g0144 |
2 | 226 | 0.0088 | 48 | c.139 others(69): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 13/13 | chr4 | TogoVar | |||||||
IQSEC1_chr3_12892043_13078429 | 12927380 | C | CCTGGTCC others(41): Show |
intron_variant | MODIFIER | HG06807.hp2 NA18968.hp1 |
a0001a0015 | a0001c0001a0015c0018 | a0001c0001t0014a0015c0018t0001 | a0001c0001t0014g0200 a0015c0018t0001g0107 |
2 | 248 | 0.0081 | 48 | c.156 others(67): Show |
IQSEC1 | ENSG00000144711.17 | transcript | ENST00000613206.2 | protein_coding | 3/13 | chr3 | TogoVar | |||||||
IQSEC1_chr3_12892043_13078429 | 12927446 | T | TAGGTGCA others(41): Show |
intron_variant | MODIFIER | HG02602.hp1 HG02698.hp2 HG03017.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0013others(1): Show | a0001c0001t0002g0159 a0001c0001t0007g0239 a0001c0001t0013g0069 others(1): Show |
4 | 77 | 0.0519 | 48 | c.156 others(67): Show |
IQSEC1 | ENSG00000144711.17 | transcript | ENST00000613206.2 | protein_coding | 3/13 | chr3 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 78138 | C | CCCGCGCG others(41): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0016 | a0016c0057 | a0016c0057t0015 | a0016c0057t0015g0274 | 1 | 280 | 0.0036 | 48 | c.554 others(67): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IRAG1_chr11_10568095_10698755 | 10680368 | A | AGAAAGAA others(41): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0214 | 1 | 167 | 0.0060 | 48 | c.67+ others(65): Show |
IRAG1 | ENSG00000072952.21 | transcript | ENST00000423302.7 | protein_coding | 1/20 | chr11 | TogoVar | |||||||
IRAG1_chr11_10568095_10698755 | 10680368 | A | AGAAAGAA others(41): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0067 | 1 | 167 | 0.0060 | 48 | c.67+ others(65): Show |
IRAG1 | ENSG00000072952.21 | transcript | ENST00000423302.7 | protein_coding | 1/20 | chr11 | TogoVar | |||||||
IRAG1_chr11_10568095_10698755 | 10680368 | A | AGAAAGAA others(41): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0189 | 1 | 167 | 0.0060 | 48 | c.67+ others(65): Show |
IRAG1 | ENSG00000072952.21 | transcript | ENST00000423302.7 | protein_coding | 1/20 | chr11 | TogoVar | |||||||
IRAG1_chr11_10568095_10698755 | 10680368 | A | AGAAAGAA others(41): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0081 | 1 | 167 | 0.0060 | 48 | c.67+ others(65): Show |
IRAG1 | ENSG00000072952.21 | transcript | ENST00000423302.7 | protein_coding | 1/20 | chr11 | TogoVar | |||||||
IREB2_chr15_78433216_78506453 | 78434342 | G | GCATGTGT others(41): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG03654.hp2 |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0012 | a0001c0002t0005g0364 a0001c0002t0012g0028 |
2 | 262 | 0.0076 | 48 | c.-39 others(59): Show |
IREB2 | ENSG00000136381.13 | transcript | ENST00000258886.13 | protein_coding | 3873 | chr15 | TogoVar | |||||||
IREB2_chr15_78433216_78506453 | 78434342 | G | GCATGTGT others(41): Show |
upstream_gene_variant | MODIFIER | NA18983.hp1 NA18999.hp1 NA19012.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0246 a0001c0002t0004g0254 a0001c0002t0004g0268 |
3 | 263 | 0.0114 | 48 | c.-39 others(59): Show |
IREB2 | ENSG00000136381.13 | transcript | ENST00000258886.13 | protein_coding | 3873 | chr15 | TogoVar | |||||||
IREB2_chr15_78433216_78506453 | 78434342 | G | GCATGTGT others(41): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0110 a0001c0001t0006g0113 |
2 | 262 | 0.0076 | 48 | c.-39 others(59): Show |
IREB2 | ENSG00000136381.13 | transcript | ENST00000258886.13 | protein_coding | 3873 | chr15 | TogoVar | |||||||
IREB2_chr15_78433216_78506453 | 78434342 | G | GCATGTGT others(41): Show |
upstream_gene_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0337 | 1 | 261 | 0.0038 | 48 | c.-39 others(59): Show |
IREB2 | ENSG00000136381.13 | transcript | ENST00000258886.13 | protein_coding | 3873 | chr15 | TogoVar | |||||||
IREB2_chr15_78433216_78506453 | 78434342 | G | GCATGTGT others(41): Show |
upstream_gene_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0324 | 1 | 261 | 0.0038 | 48 | c.-39 others(59): Show |
IREB2 | ENSG00000136381.13 | transcript | ENST00000258886.13 | protein_coding | 3873 | chr15 | TogoVar | |||||||
IREB2_chr15_78433216_78506453 | 78434342 | G | GCATGTGT others(41): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0002 | 1 | 261 | 0.0038 | 48 | c.-39 others(59): Show |
IREB2 | ENSG00000136381.13 | transcript | ENST00000258886.13 | protein_coding | 3873 | chr15 | TogoVar | |||||||
IRF3_chr19_49654572_49670857 | 49659984 | T | TACACACA others(41): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0135 | 1 | 152 | 0.0066 | 48 | c.109 others(65): Show |
IRF3 | ENSG00000126456.16 | transcript | ENST00000377139.8 | protein_coding | 7/7 | chr19 | TogoVar | |||||||
IRF3_chr19_49654572_49670857 | 49659984 | T | TACACACA others(41): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0159 | 1 | 152 | 0.0066 | 48 | c.109 others(65): Show |
IRF3 | ENSG00000126456.16 | transcript | ENST00000377139.8 | protein_coding | 7/7 | chr19 | TogoVar | |||||||
IRX6_chr16_55319203_55335756 | 55325479 | T | TAAGGAAG others(41): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0014 | 1 | 435 | 0.0023 | 48 | c.45+ others(61): Show |
IRX6 | ENSG00000159387.8 | transcript | ENST00000290552.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
IRX6_chr16_55319203_55335756 | 55325482 | G | GGAAAGAA others(41): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0008 | 1 | 433 | 0.0023 | 48 | c.45+ others(61): Show |
IRX6 | ENSG00000159387.8 | transcript | ENST00000290552.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGA11_chr15_68291532_68437163 | 68400885 | A | AAATATTA others(41): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0004 | a0004c0013 | a0004c0013t0011 | a0004c0013t0011g0183 | 1 | 235 | 0.0043 | 48 | c.164 others(65): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | |||||||
ITGAM_chr16_31254975_31337877 | 31333578 | A | AAAATAAA others(41): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0102 | 1 | 161 | 0.0062 | 48 | c.*18 others(59): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 702 | chr16 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9406082 | T | TGTGTCAC others(41): Show |
3_prime_UTR_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 273 | 0.0037 | 48 | c.*75 others(57): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 751 | chr2 | TogoVar | ||||||
ITGB5_chr3_124756948_124892365 | 124810908 | T | TCTTCTTT others(41): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0008 | a0001c0008t0006 | a0001c0008t0006g0078 | 1 | 298 | 0.0034 | 48 | c.112 others(67): Show |
ITGB5 | ENSG00000082781.12 | transcript | ENST00000296181.9 | protein_coding | 8/14 | chr3 | TogoVar | |||||||
ITGB5_chr3_124756948_124892365 | 124810908 | T | TTTTCTTT others(41): Show |
intron_variant | MODIFIER | HG03453.hp1 HG04199.hp1 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0003 | a0001c0001t0001g0235 a0004c0005t0003g0143 |
2 | 299 | 0.0067 | 48 | c.112 others(67): Show |
ITGB5 | ENSG00000082781.12 | transcript | ENST00000296181.9 | protein_coding | 8/14 | chr3 | TogoVar | |||||||
ITGBL1_chr13_101447675_101721446 | 101604887 | T | TGTATATA others(41): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 6 | 0.1667 | 48 | c.101 others(67): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | chr13 | TogoVar | |||||||
ITIH2_chr10_7698316_7754520 | 7737678 | T | TTTCTATA others(41): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0224 | 1 | 282 | 0.0035 | 48 | c.195 others(65): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITIH2_chr10_7698316_7754520 | 7737678 | T | TTTCTATA others(41): Show |
intron_variant | MODIFIER | NA18950.hp2 NA18980.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 a0001c0001t0001g0200 |
2 | 283 | 0.0071 | 48 | c.195 others(65): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITIH2_chr10_7698316_7754520 | 7737678 | T | TTTCTATA others(41): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 282 | 0.0035 | 48 | c.195 others(65): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITIH2_chr10_7698316_7754520 | 7738176 | T | TATATTAT others(41): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG01358.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0044 a0001c0001t0001g0047 others(13): Show |
17 | 152 | 0.1118 | 48 | c.195 others(65): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITIH2_chr10_7698316_7754520 | 7738176 | T | TATATTAT others(41): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 136 | 0.0074 | 48 | c.195 others(65): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITIH5_chr10_7554270_7671966 | 7566755 | A | AACAGAGA others(41): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0005 | a0005c0079 | a0005c0079t0004 | a0005c0079t0004g0282 | 1 | 336 | 0.0030 | 48 | c.215 others(65): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 12/13 | chr10 | TogoVar | |||||||
ITM2C_chr2_230859942_230884248 | 230862615 | T | TATCACTT others(41): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0022 | 1 | 396 | 0.0025 | 48 | c.-24 others(59): Show |
ITM2C | ENSG00000135916.16 | transcript | ENST00000326427.11 | protein_coding | 2326 | chr2 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6067579 | G | GCACTCAA others(41): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01346.hp2 HG02738.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0001g0125 others(1): Show |
4 | 182 | 0.0220 | 48 | c.130 others(67): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 8/20 | chr4 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6067594 | T | TGCACACA others(41): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0230 | 1 | 206 | 0.0049 | 48 | c.130 others(67): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 8/20 | chr4 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6067662 | A | ACCCCCTG others(41): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 221 | 0.0045 | 48 | c.130 others(67): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 8/20 | chr4 | TogoVar |