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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
INAFM1_chr19_47269885_47280723 | 47274671 | TAAGCGCG others(12): Show |
T | upstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 392 | 0.0026 | -19 | c.-24 others(28): Show |
INAFM1 | ENSG00000257704.4 | transcript | ENST00000552360.4 | protein_coding | 213 | chr19 | TogoVar | |||||||
INAVA_chr1_200889900_200920742 | 200911173 | TAATGTGC others(12): Show |
T | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0145 | 1 | 422 | 0.0024 | -19 | c.960 others(34): Show |
INAVA | ENSG00000163362.11 | transcript | ENST00000413687.3 | protein_coding | 8/9 | chr1 | TogoVar | |||||||
ING1_chr13_110708700_110728339 | 110713897 | CTGCGCCG others(12): Show |
C | 5_prime_UTR_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0032 | 1 | 436 | 0.0023 | -19 | c.-24 others(28): Show |
ING1 | ENSG00000153487.13 | transcript | ENST00000333219.9 | protein_coding | 1/2 | 228 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
INHBC_chr12_57429784_57457062 | 57443551 | TGGGATTA others(12): Show |
T | intron_variant | MODIFIER | HG01099.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0218 | 1 | 394 | 0.0025 | -19 | c.314 others(36): Show |
INHBC | ENSG00000175189.4 | transcript | ENST00000309668.3 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
INKA2_chr1_111717064_111744395 | 111721803 | TGTGTGTG others(12): Show |
T | downstream_gene_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0002 | a0001c0002t0073 | a0001c0002t0073g0168 | 1 | 432 | 0.0023 | -19 | c.*51 others(30): Show |
INKA2 | ENSG00000197852.12 | transcript | ENST00000357260.6 | protein_coding | 260 | chr1 | TogoVar | |||||||
INKA2_chr1_111717064_111744395 | 111740971 | TAAAAAAA others(12): Show |
T | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp1 others(26): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0007g0020 others(26): Show |
29 | 34 | 0.8529 | -19 | c.-17 others(30): Show |
INKA2 | ENSG00000197852.12 | transcript | ENST00000357260.6 | protein_coding | 1577 | chr1 | TogoVar | |||||||
INO80B_chr2_74450087_74462944 | 74452214 | CAAAAAAA others(12): Show |
C | upstream_gene_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 85 | 0.0118 | -19 | c.-29 others(30): Show |
INO80B | ENSG00000115274.15 | transcript | ENST00000233331.12 | protein_coding | 2872 | chr2 | TogoVar | |||||||
INO80D_chr2_205988721_206091174 | 206043544 | GTGGCACG others(12): Show |
G | intron_variant | MODIFIER | HG00738.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0192 | 1 | 332 | 0.0030 | -19 | c.107 others(38): Show |
INO80D | ENSG00000114933.16 | transcript | ENST00000403263.6 | protein_coding | 5/10 | chr2 | TogoVar | |||||||
INO80D_chr2_205988721_206091174 | 206071257 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01099.hp2 HG01258.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0013a0001c0001t0020others(2): Show | a0001c0001t0003g0002 a0001c0001t0003g0041 a0001c0001t0003g0042 others(16): Show |
20 | 21 | 0.9524 | -19 | c.-12 others(38): Show |
INO80D | ENSG00000114933.16 | transcript | ENST00000403263.6 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
INPP4B_chr4_142018160_142851301 | 142215892 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01106.hp1 HG02280.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0003a0001c0001t0012a0001c0001t0013others(4): Show | a0001c0001t0003g0045 a0001c0001t0012g0061 a0001c0001t0013g0040 others(4): Show |
7 | 18 | 0.3889 | -19 | c.837 others(36): Show |
INPP4B | ENSG00000109452.13 | transcript | ENST00000262992.9 | protein_coding | 12/25 | chr4 | TogoVar | |||||||
INPP4B_chr4_142018160_142851301 | 142693483 | TAAAAAAA others(12): Show |
T | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 2 | 0.5000 | -19 | c.-19 others(40): Show |
INPP4B | ENSG00000109452.13 | transcript | ENST00000262992.9 | protein_coding | 2/25 | chr4 | TogoVar | |||||||
INPP4B_chr4_142018160_142851301 | 142806757 | GAAGAAAG others(12): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG03831.hp2 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0008a0001c0011t0005 | a0001c0001t0008g0057 a0001c0011t0005g0016 |
2 | 88 | 0.0227 | -19 | c.-25 others(40): Show |
INPP4B | ENSG00000109452.13 | transcript | ENST00000262992.9 | protein_coding | 1/25 | chr4 | TogoVar | |||||||
INPP5D_chr2_233055342_233212903 | 233155640 | AAATAAAT others(12): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00438.hp2 others(34): Show |
a0001a0002a0007 | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0051 a0001c0001t0001g0075 a0001c0001t0001g0087 others(34): Show |
37 | 308 | 0.1201 | -19 | c.103 others(38): Show |
INPP5D | ENSG00000168918.14 | transcript | ENST00000445964.6 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
INPP5D_chr2_233055342_233212903 | 233186684 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01257.hp1 HG01258.hp1 others(11): Show |
a0001a0008 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0003t0001others(5): Show | a0001c0001t0002g0238 a0001c0001t0002g0290 a0001c0001t0005g0175 others(11): Show |
14 | 45 | 0.3111 | -19 | c.235 others(36): Show |
INPP5D | ENSG00000168918.14 | transcript | ENST00000445964.6 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
INPP5F_chr10_119721050_119834147 | 119771872 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 314 | 0.0032 | -19 | c.179 others(36): Show |
INPP5F | ENSG00000198825.15 | transcript | ENST00000650623.2 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INSR_chr19_7107265_7299414 | 7124540 | GGAAAAAA others(12): Show |
G | intron_variant | MODIFIER | HG01169.hp1 NA19074.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0006a0001c0004t0003 | a0001c0003t0006g0035 a0001c0004t0003g0092 |
2 | 268 | 0.0075 | -19 | c.325 others(36): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 17/21 | chr19 | TogoVar | |||||||
INSR_chr19_7107265_7299414 | 7124571 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 288 | 0.0035 | -19 | c.325 others(36): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 17/21 | chr19 | TogoVar | |||||||
INSR_chr19_7107265_7299414 | 7124573 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG03516.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0028a0001c0004t0001 | a0001c0002t0028g0238 a0001c0004t0001g0126 |
2 | 289 | 0.0069 | -19 | c.325 others(36): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 17/21 | chr19 | TogoVar | |||||||
INSR_chr19_7107265_7299414 | 7124587 | AAATATAT others(12): Show |
A | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0020 | 1 | 297 | 0.0034 | -19 | c.325 others(36): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 17/21 | chr19 | TogoVar | |||||||
INSR_chr19_7107265_7299414 | 7295632 | GTTTTTTT others(12): Show |
G | upstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0005 | a0001c0005t0104 | a0001c0005t0104g0136 | 1 | 190 | 0.0053 | -19 | c.-17 others(30): Show |
INSR | ENSG00000171105.14 | transcript | ENST00000302850.10 | protein_coding | 1219 | chr19 | TogoVar | |||||||
INSYN2A_chr10_127130430_127201591 | 127164159 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG01243.hp1 | a0003 | a0003c0004 | a0003c0004t0007 | a0003c0004t0007g0042 | 1 | 2 | 0.5000 | -19 | c.118 others(40): Show |
INSYN2A | ENSG00000188916.9 | transcript | ENST00000522781.6 | protein_coding | 4/5 | chr10 | TogoVar | |||||||
INTS1_chr7_1465277_1509389 | 1478096 | AGGAGAGT others(12): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01243.hp2 HG01361.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0037 a0001c0003t0001g0197 |
3 | 314 | 0.0096 | -19 | c.463 others(36): Show |
INTS1 | ENSG00000164880.16 | transcript | ENST00000404767.8 | protein_coding | 33/47 | chr7 | TogoVar | |||||||
INTS2_chr17_61860367_61932982 | 61901577 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00642.hp1 others(48): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0007 | a0001c0001t0001a0001c0001t0006a0001c0002t0004others(5): Show | a0001c0001t0001g0111 a0001c0001t0006g0107 a0001c0002t0004g0039 others(48): Show |
51 | 86 | 0.5930 | -19 | c.130 others(38): Show |
INTS2 | ENSG00000108506.14 | transcript | ENST00000251334.7 | protein_coding | 9/24 | chr17 | TogoVar | |||||||
INTS3_chr1_153723050_153779808 | 153770059 | GTGTGTGT others(12): Show |
G | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 188 | 0.0053 | -19 | c.239 others(36): Show |
INTS3 | ENSG00000143624.14 | transcript | ENST00000318967.7 | protein_coding | 23/29 | chr1 | TogoVar | |||||||
INTU_chr4_127627957_127731737 | 127721074 | GTGTATTT others(12): Show |
G | 3_prime_UTR_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0124 | 1 | 356 | 0.0028 | -19 | c.*46 others(30): Show |
INTU | ENSG00000164066.13 | transcript | ENST00000335251.11 | protein_coding | 16/16 | 4643 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
INVS_chr9_100094243_100307175 | 100100783 | ATATTATA others(12): Show |
A | intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0173 | 1 | 180 | 0.0056 | -19 | c.-25 others(36): Show |
INVS | ENSG00000119509.13 | transcript | ENST00000262457.7 | protein_coding | 1/16 | chr9 | TogoVar | |||||||
IPCEF1_chr6_154149496_154361803 | 154273724 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01361.hp2 HG02280.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0004a0001c0002t0019 | a0001c0001t0009g0183 a0001c0002t0004g0015 a0001c0002t0019g0069 |
3 | 100 | 0.0300 | -19 | c.-17 others(36): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 2/11 | chr6 | TogoVar | |||||||
IPCEF1_chr6_154149496_154361803 | 154288667 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00642.hp1 HG00735.hp2 others(21): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0033 others(21): Show |
24 | 122 | 0.1967 | -19 | c.-18 others(36): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 2/11 | chr6 | TogoVar | |||||||
IPO7_chr11_9379652_9453127 | 9436854 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0190 |
2 | 312 | 0.0064 | -19 | c.226 others(36): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IPO7_chr11_9379652_9453127 | 9436860 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02155.hp2 HG02451.hp1 HG03139.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0182 a0001c0001t0002g0251 a0001c0001t0002g0253 others(2): Show |
5 | 251 | 0.0199 | -19 | c.226 others(36): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IPO7_chr11_9379652_9453127 | 9436862 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG00639.hp2 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0195 a0001c0001t0004g0223 |
2 | 287 | 0.0070 | -19 | c.226 others(36): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IPO8_chr12_30623988_30700869 | 30698532 | ACTTCATT others(12): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG02071.hp2 others(22): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0015a0001c0003t0004 | a0001c0001t0004g0030 a0001c0001t0004g0133 a0001c0001t0004g0134 others(20): Show |
25 | 374 | 0.0668 | -19 | c.-29 others(30): Show |
IPO8 | ENSG00000133704.10 | transcript | ENST00000256079.9 | protein_coding | 2664 | chr12 | TogoVar | |||||||
IPPK_chr9_92608183_92675131 | 92672148 | GGGTGGTG others(12): Show |
G | upstream_gene_variant | MODIFIER | NA19091.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0243 | 1 | 81 | 0.0123 | -19 | c.-21 others(30): Show |
IPPK | ENSG00000127080.10 | transcript | ENST00000287996.8 | protein_coding | 2018 | chr9 | TogoVar | |||||||
IPP_chr1_45693711_45755653 | 45714959 | TGTAGTGG others(12): Show |
T | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0020 | 1 | 126 | 0.0079 | -19 | c.131 others(36): Show |
IPP | ENSG00000197429.11 | transcript | ENST00000396478.4 | protein_coding | 7/8 | chr1 | TogoVar | |||||||
IQCE_chr7_2553979_2619728 | 2595481 | TAGCAGGG others(12): Show |
T | intron_variant | MODIFIER | HG02145.hp2 NA20129.hp1 |
a0004 | a0004c0008 | a0004c0008t0010 | a0004c0008t0010g0021 a0004c0008t0010g0051 |
2 | 414 | 0.0048 | -19 | c.144 others(36): Show |
IQCE | ENSG00000106012.19 | transcript | ENST00000402050.7 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
IQCM_chr4_149346709_149820843 | 149582350 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 250 | 0.0040 | -19 | c.749 others(36): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 9/13 | chr4 | TogoVar | |||||||
IQGAP2_chr5_76398285_76713132 | 76436511 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0040 | a0001c0040t0009 | a0001c0040t0009g0173 | 1 | 198 | 0.0051 | -19 | c.47- others(36): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IQGAP2_chr5_76398285_76713132 | 76644282 | ATTTTTGT others(12): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00597.hp2 others(28): Show |
a0002a0003a0008others(4): Show | a0002c0001a0002c0006a0003c0026others(5): Show | a0002c0001t0001a0002c0001t0002a0002c0001t0004others(18): Show | a0002c0001t0001g0102 a0002c0001t0001g0147 a0002c0001t0001g0181 others(28): Show |
31 | 219 | 0.1416 | -19 | c.209 others(38): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 17/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IRAK1BP1_chr6_78862551_78908102 | 78866954 | TTATATAT others(12): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(109): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0001t0024a0001c0001t0025others(36): Show | a0001c0001t0010g0095 a0001c0001t0010g0096 a0001c0001t0010g0100 others(99): Show |
112 | 344 | 0.3256 | -19 | c.-62 others(28): Show |
IRAK1BP1 | ENSG00000146243.14 | transcript | ENST00000369940.7 | protein_coding | 596 | chr6 | TogoVar | |||||||
IRAK1BP1_chr6_78862551_78908102 | 78885975 | CCAGGATT others(12): Show |
C | intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0002 | a0001c0002t0122 | a0001c0002t0122g0266 | 1 | 344 | 0.0029 | -19 | c.381 others(34): Show |
IRAK1BP1 | ENSG00000146243.14 | transcript | ENST00000369940.7 | protein_coding | 2/3 | chr6 | TogoVar | |||||||
IREB2_chr15_78433216_78506453 | 78466986 | GCAGGTGG others(12): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp1 HG01074.hp2 others(70): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0007 | a0001c0001t0002a0001c0001t0019a0001c0001t0043others(2): Show | a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0024 others(66): Show |
73 | 418 | 0.1746 | -19 | c.629 others(34): Show |
IREB2 | ENSG00000136381.13 | transcript | ENST00000258886.13 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
IRF2_chr4_184382729_184479550 | 184387213 | TGAACCTT others(12): Show |
T | downstream_gene_variant | MODIFIER | HG02280.hp2 HG03540.hp1 NA21309.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006 | a0001c0002t0001g0198 a0001c0002t0001g0299 a0001c0002t0006g0365 |
3 | 374 | 0.0080 | -19 | c.*15 others(30): Show |
IRF2 | ENSG00000168310.12 | transcript | ENST00000393593.8 | protein_coding | 515 | chr4 | TogoVar | |||||||
IRGC_chr19_43711076_43725021 | 43725002 | CTTTTTTT others(12): Show |
C | downstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 353 | 0.0028 | -19 | c.*50 others(30): Show |
IRGC | ENSG00000124449.7 | transcript | ENST00000244314.6 | protein_coding | 4982 | chr19 | TogoVar | |||||||
ISM2_chr14_77469394_77503816 | 77496799 | GAAAAAAA others(12): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG06807.hp2 |
a0001 | a0001c0009 | a0001c0009t0004 | a0001c0009t0004g0072 a0001c0009t0004g0082 |
2 | 25 | 0.0800 | -19 | c.141 others(36): Show |
ISM2 | ENSG00000100593.18 | transcript | ENST00000342219.9 | protein_coding | 1/6 | chr14 | TogoVar | |||||||
ISOC2_chr19_55447985_55466642 | 55448795 | CCACACAC others(12): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG01069.hp1 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0010 | 3 | 378 | 0.0079 | -19 | c.*44 others(30): Show |
ISOC2 | ENSG00000063241.8 | transcript | ENST00000425675.7 | protein_coding | 4189 | chr19 | TogoVar | |||||||
ISOC2_chr19_55447985_55466642 | 55450865 | GGGGGACA others(12): Show |
G | downstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0109 | 1 | 377 | 0.0027 | -19 | c.*24 others(30): Show |
ISOC2 | ENSG00000063241.8 | transcript | ENST00000425675.7 | protein_coding | 2119 | chr19 | TogoVar | |||||||
ISOC2_chr19_55447985_55466642 | 55450953 | GGGGGACA others(12): Show |
G | downstream_gene_variant | MODIFIER | NA18945.hp1 NA18993.hp1 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0027 | 2 | 378 | 0.0053 | -19 | c.*23 others(30): Show |
ISOC2 | ENSG00000063241.8 | transcript | ENST00000425675.7 | protein_coding | 2031 | chr19 | TogoVar | |||||||
ISY1_chr3_129122415_129166063 | 129164210 | CAAAAAAA others(12): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00735.hp2 HG00738.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0019others(1): Show | a0001c0001t0002g0001 a0001c0001t0002g0086 a0001c0001t0002g0087 others(31): Show |
37 | 40 | 0.9250 | -19 | c.-32 others(30): Show |
ISY1 | ENSG00000240682.10 | transcript | ENST00000393295.8 | protein_coding | 3148 | chr3 | TogoVar | |||||||
ITCH_chr20_34358273_34516773 | 34456198 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02970.hp1 NA18747.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 a0001c0001t0002g0116 |
2 | 288 | 0.0069 | -19 | c.121 others(38): Show |
ITCH | ENSG00000078747.17 | transcript | ENST00000374864.10 | protein_coding | 12/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ITCH_chr20_34358273_34516773 | 34499272 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 64 | 0.0156 | -19 | c.241 others(38): Show |
ITCH | ENSG00000078747.17 | transcript | ENST00000374864.10 | protein_coding | 23/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |