| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| IL4_chr5_132668989_132687678 | 132681387 | TGGCTGAT others(15): Show |
T | intron_variant | MODIFIER | HG00408.hp1 NA18949.hp2 NA18960.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026a0001c0001t0001g0083a0001c0001t0001g0084others(3): Show | 8 | 422 | 0.0190 | -22 | c.361 others(39): Show |
IL4 | ENSG00000113520.11 | transcript | ENST00000231449.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| IL4_chr5_132668989_132687678 | 132683729 | CTGTGTGT others(15): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp1 HG01496.hp1 HG02148.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0007others(4): Show | 11 | 422 | 0.0261 | -22 | c.*11 others(33): Show |
IL4 | ENSG00000113520.11 | transcript | ENST00000231449.7 | protein_coding | 1052 | chr5 | TogoVar | ||||||
| IL6_chr7_22722200_22736998 | 22732097 | CATATATA others(15): Show |
C | downstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 418 | 0.0024 | -22 | c.*52 others(31): Show |
IL6 | ENSG00000136244.12 | transcript | ENST00000258743.10 | protein_coding | 100 | chr7 | TogoVar | ||||||
| IL7_chr8_78727772_78810463 | 78790072 | TGGAATAG others(15): Show |
T | intron_variant | MODIFIER | HG02717.hp2 HG03471.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0045a0001c0001t0001g0047a0001c0001t0009g0046 | 3 | 264 | 0.0114 | -22 | c.147 others(39): Show |
IL7 | ENSG00000104432.15 | transcript | ENST00000263851.9 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
| ILDR2_chr1_166903187_166980540 | 166909770 | AATATATA others(15): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0006 | a0001c0006t0097 | a0001c0006t0097g0279 | 1 | 342 | 0.0029 | -22 | c.*95 others(33): Show |
ILDR2 | ENSG00000143195.13 | transcript | ENST00000271417.8 | protein_coding | 10/10 | 9563 | chr1 | TogoVar | |||||
| ILRUN_chr6_34582288_34701767 | 34683399 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 316 | 0.0032 | -22 | c.158 others(41): Show |
ILRUN | ENSG00000196821.10 | transcript | ENST00000374023.8 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
| IMMP2L_chr7_110657644_111567492 | 111030882 | GTGTATAT others(15): Show |
G | intron_variant | MODIFIER | HG02809.hp1 HG03471.hp2 NA18522.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0002a0001c0002t0006 | a0001c0001t0005g0068a0001c0002t0002g0066a0001c0002t0006g0065 | 3 | 84 | 0.0357 | -22 | c.240 others(41): Show |
IMMP2L | ENSG00000184903.10 | transcript | ENST00000405709.7 | protein_coding | 3/5 | chr7 | TogoVar | ||||||
| IMMP2L_chr7_110657644_111567492 | 111360101 | CTGATTAC others(15): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01071.hp2 HG01074.hp1 others(42): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0038a0001c0001t0001g0039others(42): Show | 45 | 84 | 0.5357 | -22 | c.239 others(43): Show |
IMMP2L | ENSG00000184903.10 | transcript | ENST00000405709.7 | protein_coding | 3/5 | chr7 | TogoVar | ||||||
| IMPA1_chr8_81651914_81691325 | 81677099 | TTTTTTTT others(15): Show |
T | intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 380 | 0.0026 | -22 | c.303 others(37): Show |
IMPA1 | ENSG00000133731.10 | transcript | ENST00000256108.10 | protein_coding | 4/8 | chr8 | TogoVar | ||||||
| IMPA2_chr18_11976507_12035877 | 12030975 | TTGCGAAT others(15): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(146): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0005a0001c0001t0001g0014a0001c0001t0001g0015others(146): Show | 149 | 364 | 0.4093 | -22 | c.*51 others(31): Show |
IMPA2 | ENSG00000141401.12 | transcript | ENST00000269159.8 | protein_coding | 99 | chr18 | TogoVar | ||||||
| IMPG1_chr6_75916114_76077662 | 76006455 | TGTGTATA others(15): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00609.hp1 others(126): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0018a0001c0026others(16): Show | a0001c0001t0001a0001c0001t0005a0001c0018t0001others(23): Show | a0001c0001t0001g0002a0001c0001t0001g0022a0001c0001t0001g0065others(125): Show | 129 | 302 | 0.4272 | -22 | c.888 others(37): Show |
IMPG1 | ENSG00000112706.12 | transcript | ENST00000369950.8 | protein_coding | 9/16 | chr6 | TogoVar | ||||||
| IMPG2_chr3_101217546_101325575 | 101226225 | TTATATAT others(15): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02559.hp1 NA19030.hp1 |
a0003 | a0003c0004a0003c0014 | a0003c0004t0047a0003c0014t0044 | a0003c0004t0047g0343a0003c0014t0044g0232 | 2 | 360 | 0.0056 | -22 | c.*72 others(31): Show |
IMPG2 | ENSG00000081148.12 | transcript | ENST00000193391.8 | protein_coding | 19/19 | 722 | chr3 | TogoVar | |||||
| INAFM1_chr19_47269885_47280723 | 47271722 | TGTGTGTG others(15): Show |
T | upstream_gene_variant | MODIFIER | HG00738.hp1 HG03139.hp1 NA18973.hp1 others(1): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0007a0002c0001t0002 | a0001c0003t0007g0000a0002c0001t0002g0000 | 4 | 394 | 0.0102 | -22 | c.-31 others(33): Show |
INAFM1 | ENSG00000257704.4 | transcript | ENST00000552360.4 | protein_coding | 3162 | chr19 | TogoVar | ||||||
| INAFM1_chr19_47269885_47280723 | 47271724 | TGTGTGTG others(15): Show |
T | upstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0000 | 1 | 394 | 0.0025 | -22 | c.-31 others(33): Show |
INAFM1 | ENSG00000257704.4 | transcript | ENST00000552360.4 | protein_coding | 3160 | chr19 | TogoVar | ||||||
| INKA2_chr1_111717064_111744395 | 111721765 | AGTGTGTG others(15): Show |
A | downstream_gene_variant | MODIFIER | HG00733.hp1 HG01891.hp2 HG01952.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0053a0001c0002t0006others(2): Show | a0001c0001t0007g0092a0001c0001t0053g0037a0001c0002t0006g0005others(4): Show | 11 | 434 | 0.0254 | -22 | c.*51 others(33): Show |
INKA2 | ENSG00000197852.12 | transcript | ENST00000357260.6 | protein_coding | 298 | chr1 | TogoVar | ||||||
| INKA2_chr1_111717064_111744395 | 111740971 | TAAAAAAA others(15): Show |
T | upstream_gene_variant | MODIFIER | HG03098.hp1 NA18954.hp1 NA18968.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0017a0001c0001t0096 | a0001c0001t0011g0056a0001c0001t0017g0241a0001c0001t0096g0145 | 3 | 434 | 0.0069 | -22 | c.-17 others(33): Show |
INKA2 | ENSG00000197852.12 | transcript | ENST00000357260.6 | protein_coding | 1577 | chr1 | TogoVar | ||||||
| INO80D_chr2_205988721_206091174 | 206071257 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | HG00280.hp1 NA19240.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0033a0002c0002t0001g0184 | 2 | 334 | 0.0060 | -22 | c.-12 others(41): Show |
INO80D | ENSG00000114933.16 | transcript | ENST00000403263.6 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
| INO80_chr15_40973880_41121280 | 41046202 | CATACATA others(15): Show |
C | intron_variant | MODIFIER | HG02257.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0112a0001c0001t0003g0075 | 2 | 282 | 0.0071 | -22 | c.273 others(41): Show |
INO80 | ENSG00000128908.19 | transcript | ENST00000648947.1 | protein_coding | 23/35 | chr15 | TogoVar | ||||||
| INPP4B_chr4_142018160_142851301 | 142248626 | CTGTATGT others(15): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0035 | 1 | 90 | 0.0111 | -22 | c.689 others(41): Show |
INPP4B | ENSG00000109452.13 | transcript | ENST00000262992.9 | protein_coding | 11/25 | chr4 | TogoVar | ||||||
| INPP4B_chr4_142018160_142851301 | 142263639 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02895.hp1 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008 | a0001c0001t0001g0085a0001c0001t0004g0086a0001c0001t0008g0020others(1): Show | 4 | 90 | 0.0444 | -22 | c.616 others(39): Show |
INPP4B | ENSG00000109452.13 | transcript | ENST00000262992.9 | protein_coding | 10/25 | chr4 | TogoVar | ||||||
| INPP4B_chr4_142018160_142851301 | 142545799 | ATATATAC others(15): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG02723.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0021a0001c0002t0004 | a0001c0001t0021g0015a0001c0002t0004g0052 | 2 | 90 | 0.0222 | -22 | c.-19 others(43): Show |
INPP4B | ENSG00000109452.13 | transcript | ENST00000262992.9 | protein_coding | 2/25 | chr4 | TogoVar | ||||||
| INPP4B_chr4_142018160_142851301 | 142693483 | TAAAAAAA others(15): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG02280.hp2 HG02572.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0023a0001c0001t0003g0073a0001c0001t0005g0027others(6): Show | 9 | 90 | 0.1000 | -22 | c.-19 others(43): Show |
INPP4B | ENSG00000109452.13 | transcript | ENST00000262992.9 | protein_coding | 2/25 | chr4 | TogoVar | ||||||
| INPP4B_chr4_142018160_142851301 | 142806754 | GAAGAAGA others(15): Show |
G | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0088 | 1 | 90 | 0.0111 | -22 | c.-25 others(43): Show |
INPP4B | ENSG00000109452.13 | transcript | ENST00000262992.9 | protein_coding | 1/25 | chr4 | TogoVar | ||||||
| INPP5A_chr10_132532787_132788480 | 132703538 | TACACACA others(15): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG03098.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0185a0001c0005t0001g0186 | 2 | 204 | 0.0098 | -22 | c.475 others(39): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| INPP5D_chr2_233055342_233212903 | 233186684 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | NA19010.hp1 NA19011.hp1 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0004 | a0002c0002t0003g0291a0002c0002t0004g0034 | 2 | 310 | 0.0065 | -22 | c.235 others(39): Show |
INPP5D | ENSG00000168918.14 | transcript | ENST00000445964.6 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| INPP5F_chr10_119721050_119834147 | 119821961 | CGGGTTCA others(15): Show |
C | intron_variant | MODIFIER | HG03225.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0194a0001c0001t0002g0195 | 2 | 328 | 0.0061 | -22 | c.195 others(39): Show |
INPP5F | ENSG00000198825.15 | transcript | ENST00000650623.2 | protein_coding | 16/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| INSC_chr11_15109923_15252208 | 15189377 | TTATTTAT others(15): Show |
T | intron_variant | MODIFIER | HG03209.hp1 NA18906.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0020a0001c0001t0003g0023a0001c0001t0003g0261 | 3 | 270 | 0.0111 | -22 | c.580 others(39): Show |
INSC | ENSG00000188487.12 | transcript | ENST00000379556.8 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| INSL4_chr9_5226419_5240304 | 5228050 | GGTGTGTG others(15): Show |
G | upstream_gene_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 428 | 0.0023 | -22 | c.-34 others(33): Show |
INSL4 | ENSG00000120211.4 | transcript | ENST00000239316.4 | protein_coding | 3368 | chr9 | TogoVar | ||||||
| INSRR_chr1_156835063_156864117 | 156857163 | ATGTGTGT others(15): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG02486.hp2 others(3): Show |
a0001a0002 | a0001c0008a0002c0003 | a0001c0008t0001a0002c0003t0001a0002c0003t0003others(1): Show | a0001c0008t0001g0229a0002c0003t0001g0233a0002c0003t0003g0234others(3): Show | 6 | 356 | 0.0169 | -22 | c.85+ others(37): Show |
INSRR | ENSG00000027644.5 | transcript | ENST00000368195.4 | protein_coding | 1/21 | chr1 | TogoVar | ||||||
| INSR_chr19_7107265_7299414 | 7124540 | GGAAAAAA others(15): Show |
G | intron_variant | MODIFIER | HG00609.hp2 NA18980.hp2 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0010a0001c0015t0092 | a0001c0001t0010g0014a0001c0015t0092g0249 | 2 | 300 | 0.0067 | -22 | c.325 others(39): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 17/21 | chr19 | TogoVar | ||||||
| INSR_chr19_7107265_7299414 | 7124570 | AAAAAAAA others(15): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG01069.hp1 HG01071.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0162 | a0001c0002t0001g0154a0001c0002t0001g0156a0001c0003t0162g0293 | 3 | 300 | 0.0100 | -22 | c.325 others(39): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 17/21 | chr19 | TogoVar | ||||||
| INSR_chr19_7107265_7299414 | 7124574 | AAAAAAAA others(15): Show |
A | intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0004 | a0001c0004t0024 | a0001c0004t0024g0027 | 1 | 300 | 0.0033 | -22 | c.325 others(39): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 17/21 | chr19 | TogoVar | ||||||
| INSR_chr19_7107265_7299414 | 7124584 | AAAAAATA others(15): Show |
A | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0009 | a0001c0009t0012 | a0001c0009t0012g0042 | 1 | 300 | 0.0033 | -22 | c.325 others(39): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 17/21 | chr19 | TogoVar | ||||||
| INSR_chr19_7107265_7299414 | 7124588 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0002 | a0001c0002t0108 | a0001c0002t0108g0123 | 1 | 300 | 0.0033 | -22 | c.325 others(39): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 17/21 | chr19 | TogoVar | ||||||
| INSR_chr19_7107265_7299414 | 7151149 | CCTTTCTT others(15): Show |
C | intron_variant | MODIFIER | HG03098.hp2 HG03831.hp1 NA18966.hp2 |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0036a0001c0002t0026a0001c0004t0006 | a0001c0001t0036g0250a0001c0002t0026g0081a0001c0004t0006g0053 | 3 | 300 | 0.0100 | -22 | c.223 others(39): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 10/21 | chr19 | TogoVar | ||||||
| INSR_chr19_7107265_7299414 | 7191307 | GAGAAAGA others(15): Show |
G | intron_variant | MODIFIER | HG02615.hp1 HG03098.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0009a0001c0002t0026a0001c0002t0028others(1): Show | a0001c0002t0009g0101a0001c0002t0026g0081a0001c0002t0028g0240others(1): Show | 4 | 300 | 0.0133 | -22 | c.653 others(39): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 2/21 | chr19 | TogoVar | ||||||
| INSR_chr19_7107265_7299414 | 7295632 | GTTTTTTT others(15): Show |
G | upstream_gene_variant | MODIFIER | HG02622.hp1 HG02647.hp1 |
a0001 | a0001c0012a0001c0023 | a0001c0012t0141a0001c0023t0167 | a0001c0012t0141g0096a0001c0023t0167g0299 | 2 | 300 | 0.0067 | -22 | c.-17 others(33): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 1219 | chr19 | TogoVar | ||||||
| INSYN2A_chr10_127130430_127201591 | 127164159 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02027.hp1 HG02145.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0002a0001c0001t0005a0001c0001t0016others(4): Show | a0001c0001t0002g0227a0001c0001t0002g0228a0001c0001t0002g0229others(14): Show | 17 | 284 | 0.0599 | -22 | c.118 others(43): Show |
INSYN2A | ENSG00000188916.9 | transcript | ENST00000522781.6 | protein_coding | 4/5 | chr10 | TogoVar | ||||||
| INTS11_chr1_1306600_1329660 | 1315807 | AGGGGCAG others(15): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01099.hp1 HG02258.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0002t0002a0001c0002t0005others(1): Show | a0001c0001t0001g0101a0001c0002t0002g0049a0001c0002t0002g0050others(10): Show | 13 | 354 | 0.0367 | -22 | c.430 others(37): Show |
INTS11 | ENSG00000127054.22 | transcript | ENST00000435064.6 | protein_coding | 4/16 | chr1 | TogoVar | ||||||
| INTS11_chr1_1306600_1329660 | 1317789 | TAAAATCT others(15): Show |
T | intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 354 | 0.0028 | -22 | c.429 others(39): Show |
INTS11 | ENSG00000127054.22 | transcript | ENST00000435064.6 | protein_coding | 4/16 | chr1 | TogoVar | ||||||
| INTS3_chr1_153723050_153779808 | 153773984 | CTGTTTTT others(15): Show |
C | 3_prime_UTR_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0199 | 1 | 349 | 0.0029 | -22 | c.*72 others(31): Show |
INTS3 | ENSG00000143624.14 | transcript | ENST00000318967.7 | protein_coding | 30/30 | 727 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
| INTS4_chr11_77873720_77999668 | 77956712 | ATAATAAT others(15): Show |
A | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 362 | 0.0028 | -22 | c.798 others(37): Show |
INTS4 | ENSG00000149262.19 | transcript | ENST00000534064.6 | protein_coding | 7/22 | chr11 | TogoVar | ||||||
| INTS5_chr11_62641848_62658302 | 62653776 | CAGAGAGA others(15): Show |
C | upstream_gene_variant | MODIFIER | HG01258.hp1 HG02723.hp2 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0006 | 4 | 368 | 0.0109 | -22 | c.-54 others(31): Show |
INTS5 | ENSG00000185085.2 | transcript | ENST00000330574.2 | protein_coding | 475 | chr11 | TogoVar | ||||||
| INTS7_chr1_211935403_212040557 | 211974270 | AAAAAAAA others(15): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00597.hp2 HG01074.hp1 others(49): Show |
a0001a0003 | a0001c0001a0001c0010a0003c0008 | a0001c0001t0002a0001c0010t0002a0003c0008t0002 | a0001c0001t0002g0015a0001c0001t0002g0016a0001c0001t0002g0028others(47): Show | 52 | 352 | 0.1477 | -22 | c.181 others(39): Show |
INTS7 | ENSG00000143493.13 | transcript | ENST00000366994.8 | protein_coding | 13/19 | chr1 | TogoVar | ||||||
| INTS9_chr8_28762661_28894969 | 28814284 | TCACACAC others(15): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02698.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0007a0001c0001t0008g0194 | 2 | 358 | 0.0056 | -22 | c.489 others(37): Show |
INTS9 | ENSG00000104299.15 | transcript | ENST00000521022.6 | protein_coding | 6/16 | chr8 | TogoVar | ||||||
| INTU_chr4_127627957_127731737 | 127640570 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG03209.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0066a0001c0006t0006a0001c0006t0058 | a0001c0001t0066g0150a0001c0006t0006g0273a0001c0006t0058g0274 | 3 | 358 | 0.0084 | -22 | c.147 others(39): Show |
INTU | ENSG00000164066.13 | transcript | ENST00000335251.11 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| INVS_chr9_100094243_100307175 | 100198264 | ATTTTTTT others(15): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG02080.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0144a0001c0002t0002g0119 | 2 | 182 | 0.0110 | -22 | c.274 others(41): Show |
INVS | ENSG00000119509.13 | transcript | ENST00000262457.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| INVS_chr9_100094243_100307175 | 100299555 | AACACACA others(15): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(83): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0026others(11): Show | a0001c0001t0001g0004a0001c0001t0001g0025a0001c0001t0001g0026others(83): Show | 86 | 182 | 0.4725 | -22 | c.309 others(39): Show |
INVS | ENSG00000119509.13 | transcript | ENST00000262457.7 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| INVS_chr9_100094243_100307175 | 100299635 | GACACACA others(15): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG01243.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144a0001c0001t0001g0145 | 2 | 182 | 0.0110 | -22 | c.309 others(39): Show |
INVS | ENSG00000119509.13 | transcript | ENST00000262457.7 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| IP6K3_chr6_33716662_33751905 | 33721488 | CTTGCAGA others(15): Show |
C | downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0063 | 1 | 366 | 0.0027 | -22 | c.*12 others(33): Show |
IP6K3 | ENSG00000161896.12 | transcript | ENST00000293756.5 | protein_coding | 173 | chr6 | TogoVar |