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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ITGAV_chr2_186585056_186685901 | 186668216 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 308 | 0.0033 | 28 | c.243 others(45): Show |
ITGAV | ENSG00000138448.13 | transcript | ENST00000261023.8 | protein_coding | 24/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ITGAV_chr2_186585056_186685901 | 186668216 | A | ATATATAT others(21): Show |
intron_variant | MODIFIER | HG01952.hp2 NA18960.hp1 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 a0001c0001t0001g0223 a0001c0001t0001g0266 |
3 | 308 | 0.0097 | 28 | c.243 others(45): Show |
ITGAV | ENSG00000138448.13 | transcript | ENST00000261023.8 | protein_coding | 24/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ITGB1_chr10_32895318_32963230 | 32947432 | C | CGTGTGTG others(21): Show |
intron_variant | MODIFIER | HG03831.hp1 NA19060.hp2 NA19074.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0159 a0001c0004t0001g0164 a0001c0004t0001g0173 |
3 | 424 | 0.0071 | 28 | c.-1+ others(45): Show |
ITGB1 | ENSG00000150093.20 | transcript | ENST00000302278.8 | protein_coding | 1/15 | chr10 | TogoVar | |||||||
ITGB3_chr17_47248827_47318743 | 47272679 | T | TTCTTTTT others(21): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0229 | 1 | 370 | 0.0027 | 28 | c.80- others(43): Show |
ITGB3 | ENSG00000259207.10 | transcript | ENST00000559488.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGB3_chr17_47248827_47318743 | 47290448 | A | AGAAGGAA others(21): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0007 | a0007c0009 | a0007c0009t0002 | a0007c0009t0002g0048 | 1 | 370 | 0.0027 | 28 | c.112 others(45): Show |
ITGB3 | ENSG00000259207.10 | transcript | ENST00000559488.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGB3_chr17_47248827_47318743 | 47300346 | C | CGCGCGCG others(21): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03041.hp1 HG03540.hp1 |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0023 a0001c0002t0009g0229 |
3 | 370 | 0.0081 | 28 | c.191 others(45): Show |
ITGB3 | ENSG00000259207.10 | transcript | ENST00000559488.7 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGB5_chr3_124756948_124892365 | 124810908 | T | TTTTCTTT others(21): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01074.hp1 HG01515.hp1 others(3): Show |
a0001a0004a0005 | a0001c0001a0001c0009a0004c0005others(1): Show | a0001c0001t0002a0001c0009t0002a0004c0005t0008others(1): Show | a0001c0001t0002g0248 a0001c0009t0002g0319 a0004c0005t0008g0304 others(3): Show |
6 | 352 | 0.0171 | 28 | c.112 others(47): Show |
ITGB5 | ENSG00000082781.12 | transcript | ENST00000296181.9 | protein_coding | 8/14 | chr3 | TogoVar | |||||||
ITGBL1_chr13_101447675_101721446 | 101604887 | T | TATACACA others(21): Show |
intron_variant | MODIFIER | HG03927.hp1 NA19056.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0177 a0001c0003t0001g0297 |
2 | 306 | 0.0065 | 28 | c.101 others(47): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ITGBL1_chr13_101447675_101721446 | 101604887 | T | TATATACA others(21): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 306 | 0.0033 | 28 | c.101 others(47): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ITGBL1_chr13_101447675_101721446 | 101604887 | T | TATATATA others(21): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01255.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0115 a0001c0002t0001g0238 |
2 | 306 | 0.0065 | 28 | c.101 others(47): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ITGBL1_chr13_101447675_101721446 | 101604887 | T | TATGTATA others(21): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296 | 1 | 306 | 0.0033 | 28 | c.101 others(47): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ITGBL1_chr13_101447675_101721446 | 101689211 | T | TAAAAAAA others(21): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02451.hp2 HG03927.hp1 others(4): Show |
a0001a0002 | a0001c0003a0001c0006a0001c0016others(1): Show | a0001c0003t0001a0001c0006t0001a0001c0016t0001others(1): Show | a0001c0003t0001g0297 a0001c0003t0001g0300 a0001c0006t0001g0224 others(3): Show |
7 | 306 | 0.0229 | 28 | c.101 others(47): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ITIH2_chr10_7698316_7754520 | 7701183 | G | GCTGTTGT others(21): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 | a0003 | a0003c0025 | a0003c0025t0001 | a0003c0025t0001g0372 | 1 | 380 | 0.0026 | 28 | c.-22 others(39): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 2132 | chr10 | TogoVar | |||||||
ITIH2_chr10_7698316_7754520 | 7737665 | T | TTCTATAG others(21): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 380 | 0.0026 | 28 | c.195 others(45): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITIH5_chr10_7554270_7671966 | 7644900 | C | CATATATA others(21): Show |
intron_variant | MODIFIER | HG00558.hp1 NA18943.hp1 NA18971.hp1 |
a0003a0009a0037 | a0003c0002a0009c0027a0037c0071 | a0003c0002t0002a0009c0027t0001a0037c0071t0001 | a0003c0002t0002g0207 a0009c0027t0001g0208 a0037c0071t0001g0209 |
3 | 342 | 0.0088 | 28 | c.136 others(45): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 2/13 | chr10 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26772491 | C | CATGTATT others(21): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01070.hp1 others(10): Show |
a0001 | a0001c0013a0001c0025a0001c0026others(7): Show | a0001c0013t0022a0001c0025t0024a0001c0025t0051others(9): Show | a0001c0013t0022g0120 a0001c0013t0022g0129 a0001c0025t0024g0139 others(10): Show |
13 | 142 | 0.0916 | 28 | c.163 others(47): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 2/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26802552 | T | TATATATC others(21): Show |
intron_variant | MODIFIER | HG02132.hp1 HG03704.hp2 NA18522.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006a0001c0007others(1): Show | a0001c0001t0003a0001c0006t0026a0001c0007t0002others(1): Show | a0001c0001t0003g0074 a0001c0006t0026g0002 a0001c0007t0002g0066 others(1): Show |
4 | 142 | 0.0282 | 28 | c.93- others(45): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 1/56 | chr12 | TogoVar | |||||||
ITPRID1_chr7_31509090_31661504 | 31519620 | C | CCATATAT others(21): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0182 | 1 | 312 | 0.0032 | 28 | c.-98 others(45): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 1/14 | chr7 | TogoVar | |||||||
ITPRID1_chr7_31509090_31661504 | 31519620 | C | CTCCATAT others(21): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0187 | 1 | 312 | 0.0032 | 28 | c.-98 others(45): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ITPRID1_chr7_31509090_31661504 | 31519620 | C | CTCTCCAT others(21): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0002 | a0002c0001 | a0002c0001t0007 | a0002c0001t0007g0191 | 1 | 312 | 0.0032 | 28 | c.-98 others(45): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ITPRID1_chr7_31509090_31661504 | 31519620 | C | CTCTCTAT others(21): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01978.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0101 a0001c0002t0002g0167 |
2 | 312 | 0.0064 | 28 | c.-98 others(45): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ITPRID1_chr7_31509090_31661504 | 31519620 | C | CTCTCTCC others(21): Show |
intron_variant | MODIFIER | HG01257.hp1 NA18990.hp2 NA19081.hp2 |
a0002a0003 | a0002c0001a0003c0005a0003c0007 | a0002c0001t0002a0003c0005t0003a0003c0007t0003 | a0002c0001t0002g0197 a0003c0005t0003g0196 a0003c0007t0003g0198 |
3 | 312 | 0.0096 | 28 | c.-98 others(45): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ITPRID1_chr7_31509090_31661504 | 31519620 | C | CTCTCTCT others(21): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0104 | 1 | 312 | 0.0032 | 28 | c.-98 others(45): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ITPRID1_chr7_31509090_31661504 | 31519620 | C | CTCTCTCT others(21): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0016 | a0016c0020 | a0016c0020t0003 | a0016c0020t0003g0208 | 1 | 312 | 0.0032 | 28 | c.-98 others(45): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ITPRID1_chr7_31509090_31661504 | 31519620 | C | CTCTCTCT others(21): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0002 | a0002c0001 | a0002c0001t0007 | a0002c0001t0007g0046 | 1 | 312 | 0.0032 | 28 | c.-98 others(45): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ITPRID1_chr7_31509090_31661504 | 31519620 | C | CTCTCTCT others(21): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0021 | a0021c0044 | a0021c0044t0002 | a0021c0044t0002g0123 | 1 | 312 | 0.0032 | 28 | c.-98 others(45): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ITPRID1_chr7_31509090_31661504 | 31617445 | T | TTAATTAA others(21): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0060 | 1 | 312 | 0.0032 | 28 | c.122 others(49): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ITPRIP_chr10_104304700_104343465 | 104309305 | C | CATATATA others(21): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 NA19000.hp1 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014 | a0001c0001t0003g0015 a0001c0001t0003g0170 a0001c0001t0014g0043 |
3 | 324 | 0.0093 | 28 | c.*51 others(39): Show |
ITPRIP | ENSG00000148841.17 | transcript | ENST00000337478.3 | protein_coding | 394 | chr10 | TogoVar | |||||||
ITSN1_chr21_33637501_33904861 | 33690775 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0222 | 1 | 242 | 0.0041 | 28 | c.-32 others(47): Show |
ITSN1 | ENSG00000205726.15 | transcript | ENST00000381318.8 | protein_coding | 1/39 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ITSN1_chr21_33637501_33904861 | 33690815 | G | GTATATAT others(21): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0207 | 1 | 242 | 0.0041 | 28 | c.-32 others(47): Show |
ITSN1 | ENSG00000205726.15 | transcript | ENST00000381318.8 | protein_coding | 1/39 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ITSN2_chr2_24197864_24365536 | 24337315 | A | AATATATA others(21): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01123.hp2 HG02630.hp1 others(3): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0004c0004t0001a0004c0004t0004 | a0002c0002t0001g0165 a0002c0002t0001g0188 a0004c0004t0001g0005 others(3): Show |
6 | 224 | 0.0268 | 28 | c.-33 others(45): Show |
ITSN2 | ENSG00000198399.16 | transcript | ENST00000355123.9 | protein_coding | 1/39 | chr2 | TogoVar | |||||||
IVNS1ABP_chr1_185291388_185322243 | 185292366 | C | CTTTTTCC others(21): Show |
downstream_gene_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 1 | 380 | 0.0026 | 28 | c.*56 others(39): Show |
IVNS1ABP | ENSG00000116679.16 | transcript | ENST00000367498.8 | protein_coding | 4021 | chr1 | TogoVar | |||||||
IZUMO4_chr19_2091915_2104590 | 2104518 | G | GCCAAGAC others(21): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 454 | 0.0022 | 28 | c.*51 others(39): Show |
IZUMO4 | ENSG00000099840.14 | transcript | ENST00000395301.8 | protein_coding | 4929 | chr19 | TogoVar | |||||||
JAK1_chr1_64828229_64971549 | 64902583 | A | AGAGAGAG others(21): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 326 | 0.0031 | 28 | c.-77 others(47): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
JAK1_chr1_64828229_64971549 | 64902583 | A | AGAGAGAG others(21): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014 | a0001c0001t0002g0214 a0001c0001t0014g0267 |
2 | 326 | 0.0061 | 28 | c.-77 others(47): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
JAK1_chr1_64828229_64971549 | 64913641 | G | GAGGAAGG others(21): Show |
intron_variant | MODIFIER | HG02015.hp2 HG03130.hp1 HG03453.hp2 |
a0001 | a0001c0002a0001c0003a0001c0014 | a0001c0002t0001a0001c0003t0001a0001c0014t0002 | a0001c0002t0001g0311 a0001c0003t0001g0326 a0001c0014t0002g0038 |
3 | 326 | 0.0092 | 28 | c.-77 others(47): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
JAK1_chr1_64828229_64971549 | 64913655 | A | AGAAGGAA others(21): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0069 | 1 | 326 | 0.0031 | 28 | c.-77 others(47): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
JAK1_chr1_64828229_64971549 | 64913705 | A | AAGGAAGG others(21): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03139.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0258 a0001c0002t0001g0263 |
2 | 326 | 0.0061 | 28 | c.-77 others(47): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
JAK1_chr1_64828229_64971549 | 64913705 | A | AAGGAAGG others(21): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0320 | 1 | 326 | 0.0031 | 28 | c.-77 others(47): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
JAK2_chr9_4980272_5134948 | 5131435 | A | ATTTTTTT others(21): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 NA18522.hp1 |
a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0006 a0001c0004t0006g0039 |
2 | 364 | 0.0055 | 28 | c.*46 others(39): Show |
JAK2 | ENSG00000096968.14 | transcript | ENST00000381652.4 | protein_coding | 1488 | chr9 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6080984 | T | TACACACA others(21): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02451.hp2 HG02622.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0142 a0001c0001t0001g0196 a0001c0002t0001g0144 |
3 | 233 | 0.0129 | 28 | c.110 others(45): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 6/20 | chr4 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6183478 | C | CAATAAAT others(21): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 233 | 0.0043 | 28 | c.-14 others(49): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 1/20 | chr4 | TogoVar | |||||||
JAKMIP2_chr5_147580438_147787728 | 147618387 | C | CTTTTTAG others(21): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00673.hp2 others(34): Show |
a0001a0003 | a0001c0003a0001c0005a0001c0018others(1): Show | a0001c0003t0001a0001c0003t0012a0001c0003t0014others(16): Show | a0001c0003t0001g0006 a0001c0003t0012g0033 a0001c0003t0012g0128 others(34): Show |
37 | 250 | 0.1480 | 28 | c.214 others(45): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 18/21 | chr5 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132142490 | G | GCCCCGGC others(21): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0002 | a0002c0031 | a0002c0031t0039 | a0002c0031t0039g0088 | 1 | 158 | 0.0063 | 28 | c.160 others(45): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132158940 | G | GTGGGAGG others(21): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01361.hp1 HG02280.hp2 others(1): Show |
a0001a0002 | a0001c0015a0001c0017a0002c0005 | a0001c0015t0005a0001c0017t0005a0002c0005t0005others(1): Show | a0001c0015t0005g0140 a0001c0017t0005g0079 a0002c0005t0005g0130 others(1): Show |
4 | 158 | 0.0253 | 28 | c.222 others(47): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | chr10 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132158940 | G | GTGGGAGG others(21): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0006 | a0001c0006t0017 | a0001c0006t0017g0154 | 1 | 158 | 0.0063 | 28 | c.222 others(47): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | chr10 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132159663 | G | GCTGCGGG others(21): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0004 | a0004c0014 | a0004c0014t0031 | a0004c0014t0031g0150 | 1 | 158 | 0.0063 | 28 | c.222 others(47): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132159794 | T | TGGGGGGG others(21): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03540.hp2 |
a0002 | a0002c0005 | a0002c0005t0010 | a0002c0005t0010g0061 a0002c0005t0010g0095 |
2 | 158 | 0.0127 | 28 | c.222 others(47): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132160443 | C | CAGGCGGT others(21): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02895.hp2 HG02965.hp1 others(2): Show |
a0001a0004a0009 | a0001c0001a0001c0032a0004c0014others(2): Show | a0001c0001t0003a0001c0032t0037a0004c0014t0031others(2): Show | a0001c0001t0003g0102 a0001c0032t0037g0124 a0004c0014t0031g0150 others(2): Show |
5 | 158 | 0.0317 | 28 | c.222 others(47): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | chr10 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132160547 | T | TGGTGGGG others(21): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01243.hp2 NA20805.hp2 |
a0002a0004 | a0002c0005a0002c0037a0004c0011 | a0002c0005t0001a0002c0037t0001a0004c0011t0001 | a0002c0005t0001g0016 a0002c0037t0001g0139 a0004c0011t0001g0118 |
3 | 158 | 0.0190 | 28 | c.222 others(47): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |