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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IRF6_chr1_209780617_209811142 | 209806757 | C | CTTTTTTT others(23): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 428 | 0.0023 | 30 | c.-88 others(39): Show |
IRF6 | ENSG00000117595.13 | transcript | ENST00000367021.8 | protein_coding | 616 | chr1 | TogoVar | |||||||
IRF7_chr11_607555_620950 | 613610 | A | AGCTGTGA others(23): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0042 | 1 | 407 | 0.0025 | 30 | c.848 others(43): Show |
IRF7 | ENSG00000185507.21 | transcript | ENST00000525445.6 | protein_coding | 8/10 | chr11 | TogoVar | |||||||
IRF8_chr16_85894162_85927606 | 85904812 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0192 | 1 | 432 | 0.0023 | 30 | c.174 others(47): Show |
IRF8 | ENSG00000140968.12 | transcript | ENST00000268638.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
IRGC_chr19_43711076_43725021 | 43724830 | T | TATATATA others(23): Show |
downstream_gene_variant | MODIFIER | HG03942.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0028 | 1 | 412 | 0.0024 | 30 | c.*48 others(41): Show |
IRGC | ENSG00000124449.7 | transcript | ENST00000244314.6 | protein_coding | 4810 | chr19 | TogoVar | |||||||
IRGC_chr19_43711076_43725021 | 43724830 | T | TATATATA others(23): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 NA19240.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 2 | 412 | 0.0049 | 30 | c.*48 others(41): Show |
IRGC | ENSG00000124449.7 | transcript | ENST00000244314.6 | protein_coding | 4810 | chr19 | TogoVar | |||||||
IRGC_chr19_43711076_43725021 | 43724830 | T | TATATATA others(23): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 HG02818.hp1 HG02970.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 4 | 412 | 0.0097 | 30 | c.*48 others(41): Show |
IRGC | ENSG00000124449.7 | transcript | ENST00000244314.6 | protein_coding | 4810 | chr19 | TogoVar | |||||||
IRGC_chr19_43711076_43725021 | 43724830 | T | TATATATA others(23): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 NA18965.hp1 NA18982.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0001 | 4 | 412 | 0.0097 | 30 | c.*48 others(41): Show |
IRGC | ENSG00000124449.7 | transcript | ENST00000244314.6 | protein_coding | 4810 | chr19 | TogoVar | |||||||
IRGC_chr19_43711076_43725021 | 43724830 | T | TATATATA others(23): Show |
downstream_gene_variant | MODIFIER | NA19081.hp1 NA19081.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0001 | 2 | 412 | 0.0049 | 30 | c.*48 others(41): Show |
IRGC | ENSG00000124449.7 | transcript | ENST00000244314.6 | protein_coding | 4810 | chr19 | TogoVar | |||||||
IRGQ_chr19_43579367_43601134 | 43599131 | G | GTGCCCCC others(23): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 426 | 0.0024 | 30 | c.-31 others(41): Show |
IRGQ | ENSG00000167378.10 | transcript | ENST00000422989.6 | protein_coding | 2998 | chr19 | TogoVar | |||||||
IRS1_chr2_226726312_226804820 | 226728076 | G | GGTGTGTG others(23): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(83): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(34): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(81): Show |
86 | 278 | 0.3094 | 30 | c.*81 others(41): Show |
IRS1 | ENSG00000169047.6 | transcript | ENST00000305123.6 | protein_coding | 3235 | chr2 | TogoVar | |||||||
IRS1_chr2_226726312_226804820 | 226766163 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0172 | 1 | 278 | 0.0036 | 30 | c.*21 others(49): Show |
IRS1 | ENSG00000169047.6 | transcript | ENST00000305123.6 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
IRX5_chr16_54925865_54939485 | 54928376 | C | CGGGGCGG others(23): Show |
upstream_gene_variant | MODIFIER | NA18941.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 390 | 0.0026 | 30 | c.-28 others(41): Show |
IRX5 | ENSG00000176842.16 | transcript | ENST00000394636.9 | protein_coding | 2488 | chr16 | TogoVar | |||||||
IRX6_chr16_55319203_55335756 | 55324799 | A | AACACACT others(23): Show |
5_prime_UTR_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0237 | 1 | 448 | 0.0022 | 30 | c.-29 others(39): Show |
IRX6 | ENSG00000159387.8 | transcript | ENST00000290552.8 | protein_coding | 1/6 | 292 | chr16 | TogoVar | ||||||
IRX6_chr16_55319203_55335756 | 55325531 | G | GAAGGAAG others(23): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0090 | 1 | 448 | 0.0022 | 30 | c.45+ others(43): Show |
IRX6 | ENSG00000159387.8 | transcript | ENST00000290552.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ISM1_chr20_13216274_13305651 | 13221212 | C | CCCTCCTC others(23): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0066 | 1 | 396 | 0.0025 | 30 | c.-56 others(39): Show |
ISM1 | ENSG00000101230.6 | transcript | ENST00000262487.5 | protein_coding | 61 | chr20 | TogoVar | |||||||
ISM1_chr20_13216274_13305651 | 13221212 | C | CCCTCCTC others(23): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 396 | 0.0025 | 30 | c.-56 others(39): Show |
ISM1 | ENSG00000101230.6 | transcript | ENST00000262487.5 | protein_coding | 61 | chr20 | TogoVar | |||||||
ISM1_chr20_13216274_13305651 | 13268114 | G | GTCTTCTC others(23): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02055.hp1 HG02129.hp2 others(7): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0073 a0001c0001t0001g0118 a0001c0001t0002g0104 others(7): Show |
10 | 396 | 0.0253 | 30 | c.139 others(47): Show |
ISM1 | ENSG00000101230.6 | transcript | ENST00000262487.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ISM1_chr20_13216274_13305651 | 13273215 | T | TTTTTATT others(23): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00544.hp2 others(86): Show |
a0001a0007a0008 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 others(83): Show |
89 | 396 | 0.2248 | 30 | c.378 others(47): Show |
ISM1 | ENSG00000101230.6 | transcript | ENST00000262487.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ITCH_chr20_34358273_34516773 | 34462307 | A | AGTCTTAG others(23): Show |
intron_variant | MODIFIER | HG02559.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0292 a0001c0001t0009g0293 |
2 | 294 | 0.0068 | 30 | c.142 others(47): Show |
ITCH | ENSG00000078747.17 | transcript | ENST00000374864.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ITFG1_chr16_47149391_47466063 | 47315768 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02280.hp1 HG02723.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0003g0068 others(2): Show |
5 | 110 | 0.0455 | 30 | c.803 others(47): Show |
ITFG1 | ENSG00000129636.13 | transcript | ENST00000320640.11 | protein_coding | 8/17 | chr16 | TogoVar | |||||||
ITFG1_chr16_47149391_47466063 | 47396522 | T | TTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02622.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0004t0001 | a0001c0002t0002g0088 a0001c0004t0001g0071 |
2 | 110 | 0.0182 | 30 | c.656 others(49): Show |
ITFG1 | ENSG00000129636.13 | transcript | ENST00000320640.11 | protein_coding | 6/17 | chr16 | TogoVar | |||||||
ITFG1_chr16_47149391_47466063 | 47409404 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0072 | 1 | 110 | 0.0091 | 30 | c.655 others(49): Show |
ITFG1 | ENSG00000129636.13 | transcript | ENST00000320640.11 | protein_coding | 6/17 | chr16 | TogoVar | |||||||
ITGA1_chr5_52782916_52964209 | 52962755 | C | CACATATA others(23): Show |
downstream_gene_variant | MODIFIER | NA18988.hp1 | a0003 | a0003c0005 | a0003c0005t0081 | a0003c0005t0081g0146 | 1 | 322 | 0.0031 | 30 | c.*10 others(43): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 3547 | chr5 | TogoVar | |||||||
ITGA2B_chr17_44367181_44394649 | 44368119 | A | AATATATA others(23): Show |
downstream_gene_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 354 | 0.0028 | 30 | c.*42 others(41): Show |
ITGA2B | ENSG00000005961.19 | transcript | ENST00000262407.6 | protein_coding | 4061 | chr17 | TogoVar | |||||||
ITGA8_chr10_15508954_15724922 | 15697046 | A | AACACACA others(23): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0004 | a0004c0024 | a0004c0024t0039 | a0004c0024t0039g0212 | 1 | 220 | 0.0046 | 30 | c.344 others(47): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 2/29 | chr10 | TogoVar | |||||||
ITGAE_chr17_3709628_3806188 | 3730454 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 302 | 0.0033 | 30 | c.283 others(47): Show |
ITGAE | ENSG00000083457.12 | transcript | ENST00000263087.9 | protein_coding | 23/30 | chr17 | TogoVar | |||||||
ITGAE_chr17_3709628_3806188 | 3796170 | C | CGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0275 | 1 | 302 | 0.0033 | 30 | c.34+ others(45): Show |
ITGAE | ENSG00000083457.12 | transcript | ENST00000263087.9 | protein_coding | 1/30 | chr17 | TogoVar | |||||||
ITGAL_chr16_30467742_30528185 | 30493245 | C | CATTTTAT others(23): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0299 | 1 | 318 | 0.0031 | 30 | c.121 others(47): Show |
ITGAL | ENSG00000005844.19 | transcript | ENST00000356798.11 | protein_coding | 11/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAL_chr16_30467742_30528185 | 30499709 | A | ATGTATAT others(23): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0024 | 1 | 318 | 0.0031 | 30 | c.214 others(47): Show |
ITGAL | ENSG00000005844.19 | transcript | ENST00000356798.11 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAL_chr16_30467742_30528185 | 30499711 | A | ATATGTAT others(23): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 318 | 0.0031 | 30 | c.214 others(47): Show |
ITGAL | ENSG00000005844.19 | transcript | ENST00000356798.11 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAL_chr16_30467742_30528185 | 30499713 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 318 | 0.0031 | 30 | c.214 others(47): Show |
ITGAL | ENSG00000005844.19 | transcript | ENST00000356798.11 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAL_chr16_30467742_30528185 | 30499713 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG03490.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 a0001c0001t0001g0215 a0001c0001t0001g0281 |
3 | 318 | 0.0094 | 30 | c.214 others(47): Show |
ITGAL | ENSG00000005844.19 | transcript | ENST00000356798.11 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAL_chr16_30467742_30528185 | 30499733 | A | ATACATAT others(23): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0315 | 1 | 318 | 0.0031 | 30 | c.214 others(47): Show |
ITGAL | ENSG00000005844.19 | transcript | ENST00000356798.11 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAL_chr16_30467742_30528185 | 30499733 | A | ATACGTAT others(23): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0272 | 1 | 318 | 0.0031 | 30 | c.214 others(47): Show |
ITGAL | ENSG00000005844.19 | transcript | ENST00000356798.11 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAL_chr16_30467742_30528185 | 30499733 | A | ATATGTAT others(23): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0229 | 1 | 318 | 0.0031 | 30 | c.214 others(47): Show |
ITGAL | ENSG00000005844.19 | transcript | ENST00000356798.11 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31258303 | A | ATATATAT others(23): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 | a0007 | a0007c0012 | a0007c0012t0004 | a0007c0012t0004g0164 | 1 | 244 | 0.0041 | 30 | c.-17 others(41): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1671 | chr16 | TogoVar | |||||||
ITGAM_chr16_31254975_31337877 | 31258303 | A | ATATATAT others(23): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0159 | 1 | 244 | 0.0041 | 30 | c.-17 others(41): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1671 | chr16 | TogoVar | |||||||
ITGAM_chr16_31254975_31337877 | 31270699 | G | GTGTATAT others(23): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0055 a0001c0002t0002g0057 |
2 | 244 | 0.0082 | 30 | c.428 others(45): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31302396 | T | TTTCTTTC others(23): Show |
intron_variant | MODIFIER | HG00099.hp1 HG03098.hp1 NA20752.hp2 |
a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0036 a0003c0004t0005g0051 a0003c0004t0005g0079 |
3 | 244 | 0.0123 | 30 | c.170 others(49): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 14/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGB1_chr10_32895318_32963230 | 32947432 | C | CGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG02735.hp1 HG04199.hp2 NA18949.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0001 | a0001c0001t0003g0170 a0001c0004t0001g0171 a0001c0004t0001g0172 others(1): Show |
4 | 424 | 0.0094 | 30 | c.-1+ others(47): Show |
ITGB1 | ENSG00000150093.20 | transcript | ENST00000302278.8 | protein_coding | 1/15 | chr10 | TogoVar | |||||||
ITGB3_chr17_47248827_47318743 | 47300346 | C | CGCGCGCG others(23): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0228 | 1 | 370 | 0.0027 | 30 | c.191 others(47): Show |
ITGB3 | ENSG00000259207.10 | transcript | ENST00000559488.7 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGB5_chr3_124756948_124892365 | 124800610 | G | GCCTGATA others(23): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0316 | 1 | 352 | 0.0028 | 30 | c.126 others(49): Show |
ITGB5 | ENSG00000082781.12 | transcript | ENST00000296181.9 | protein_coding | 9/14 | chr3 | TogoVar | |||||||
ITGBL1_chr13_101447675_101721446 | 101604887 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0163 | 1 | 306 | 0.0033 | 30 | c.101 others(49): 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(23): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0056 | 1 | 306 | 0.0033 | 30 | c.101 others(49): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ITGBL1_chr13_101447675_101721446 | 101604887 | T | TATATATG others(23): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0186 | 1 | 306 | 0.0033 | 30 | c.101 others(49): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ITGBL1_chr13_101447675_101721446 | 101606174 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 306 | 0.0033 | 30 | c.101 others(49): 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(23): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02818.hp1 NA18747.hp1 others(5): Show |
a0001a0006 | a0001c0003a0006c0017 | a0001c0003t0001a0006c0017t0001 | a0001c0003t0001g0002 a0001c0003t0001g0014 a0001c0003t0001g0056 others(4): Show |
8 | 306 | 0.0261 | 30 | c.101 others(49): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ITIH2_chr10_7698316_7754520 | 7737642 | A | AATATTCT others(23): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02818.hp1 |
a0007 | a0007c0010a0007c0016 | a0007c0010t0001a0007c0016t0001 | a0007c0010t0001g0259 a0007c0016t0001g0016 |
2 | 380 | 0.0053 | 30 | c.195 others(47): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITIH2_chr10_7698316_7754520 | 7753812 | G | GCCATCAT others(23): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0286 | 1 | 380 | 0.0026 | 30 | c.*44 others(41): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 4293 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7624807 | A | ATATATAC others(23): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0013 | a0013c0085 | a0013c0085t0003 | a0013c0085t0003g0291 | 1 | 342 | 0.0029 | 30 | c.653 others(47): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 5/13 | chr10 | TogoVar |