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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
INSYN1_chr15_73730458_73758351 | 73743892 | G | GTTTTACA | intron_variant | MODIFIER | HG02280.hp1 HG02976.hp2 HG03130.hp2 others(1): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0070a0001c0001t0072a0001c0001t0073others(1): Show | a0001c0001t0070g0136 a0001c0001t0072g0138 a0001c0001t0073g0137 others(1): Show |
4 | 404 | 0.0099 | 7 | c.157 others(24): Show |
INSYN1 | ENSG00000205363.7 | transcript | ENST00000569673.3 | protein_coding | 2/2 | chr15 | TogoVar | |||||||
INSYN2A_chr10_127130430_127201591 | 127190682 | C | CCCCCCCG | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG01074.hp2 others(16): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0040a0001c0002t0001a0001c0002t0008others(5): Show | a0001c0001t0040g0265 a0001c0002t0001g0024 a0001c0002t0001g0072 others(16): Show |
19 | 173 | 0.1098 | 7 | c.-26 others(26): Show |
INSYN2A | ENSG00000188916.9 | transcript | ENST00000522781.6 | protein_coding | 2/5 | chr10 | TogoVar | |||||||
INSYN2B_chr5_169856303_169985495 | 169886786 | T | TTTTTTGC | intron_variant | MODIFIER | HG02735.hp1 HG03017.hp2 HG03654.hp1 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0104 a0003c0003t0004g0159 a0003c0003t0004g0233 others(2): Show |
5 | 316 | 0.0158 | 7 | c.-91 others(26): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
INSYN2B_chr5_169856303_169985495 | 169961978 | C | CAAAAAAA | intron_variant | MODIFIER | HG00673.hp1 HG02071.hp2 HG02083.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0076 others(17): Show |
21 | 75 | 0.2800 | 7 | c.-91 others(28): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
INSYN2B_chr5_169856303_169985495 | 169972493 | C | CATTATTA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(253): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 others(251): Show |
256 | 316 | 0.8101 | 7 | c.-91 others(26): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
INTS11_chr1_1306600_1329660 | 1308546 | C | CGGGGGGG | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG02040.hp1 others(19): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(11): Show |
22 | 186 | 0.1183 | 7 | c.*33 others(18): Show |
INTS11 | ENSG00000127054.22 | transcript | ENST00000435064.6 | protein_coding | 3053 | chr1 | TogoVar | |||||||
INTS11_chr1_1306600_1329660 | 1312198 | T | TGGGGGGG | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00735.hp2 others(17): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0012 a0001c0003t0001g0034 a0001c0003t0001g0035 others(11): Show |
20 | 85 | 0.2353 | 7 | c.160 others(22): Show |
INTS11 | ENSG00000127054.22 | transcript | ENST00000435064.6 | protein_coding | 15/16 | chr1 | TogoVar | |||||||
INTS11_chr1_1306600_1329660 | 1329191 | G | GGGAGGAC | upstream_gene_variant | MODIFIER | HG01123.hp1 HG02109.hp1 HG02922.hp1 others(5): Show |
a0001a0003 | a0001c0004a0001c0012a0003c0011 | a0001c0004t0001a0001c0012t0001a0003c0011t0001 | a0001c0004t0001g0045 a0001c0004t0001g0172 a0001c0004t0001g0185 others(4): Show |
8 | 352 | 0.0227 | 7 | c.-45 others(18): Show |
INTS11 | ENSG00000127054.22 | transcript | ENST00000435064.6 | protein_coding | 4532 | chr1 | TogoVar | |||||||
INTS14_chr15_65573757_65616131 | 65606252 | C | CAAAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG00673.hp1 HG03669.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 a0001c0001t0002g0198 a0001c0001t0002g0206 others(2): Show |
6 | 262 | 0.0229 | 7 | c.222 others(22): Show |
INTS14 | ENSG00000138614.16 | transcript | ENST00000313182.7 | protein_coding | 2/11 | chr15 | TogoVar | |||||||
INTS15_chr7_6585021_6613726 | 6598786 | T | TGTGTGTA | intron_variant | MODIFIER | HG00323.hp1 HG01123.hp2 HG01175.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0024 others(17): Show |
25 | 278 | 0.0899 | 7 | c.581 others(24): Show |
INTS15 | ENSG00000146576.13 | transcript | ENST00000344417.10 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
INTS15_chr7_6585021_6613726 | 6613356 | T | TATATATA | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00741.hp1 HG01123.hp1 others(11): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0003c0008t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(8): Show |
14 | 301 | 0.0465 | 7 | c.*51 others(18): Show |
INTS15 | ENSG00000146576.13 | transcript | ENST00000344417.10 | protein_coding | 4631 | chr7 | TogoVar | |||||||
INTS1_chr7_1465277_1509389 | 1472794 | C | CTGGTGGA | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02145.hp2 others(16): Show |
a0001a0002a0009 | a0001c0005a0001c0008a0001c0018others(9): Show | a0001c0005t0001a0001c0008t0004a0001c0008t0007others(10): Show | a0001c0005t0001g0117 a0001c0005t0001g0212 a0001c0005t0001g0213 others(14): Show |
19 | 314 | 0.0605 | 7 | c.607 others(24): Show |
INTS1 | ENSG00000164880.16 | transcript | ENST00000404767.8 | protein_coding | 43/47 | chr7 | TogoVar | |||||||
INTS2_chr17_61860367_61932982 | 61889020 | C | CAAAAACA | intron_variant | MODIFIER | HG00639.hp1 HG01891.hp1 HG02055.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 others(19): Show |
22 | 303 | 0.0726 | 7 | c.198 others(24): Show |
INTS2 | ENSG00000108506.14 | transcript | ENST00000251334.7 | protein_coding | 15/24 | chr17 | TogoVar | |||||||
INTS2_chr17_61860367_61932982 | 61906963 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00621.hp1 others(19): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0002g0037 a0001c0001t0002g0095 a0001c0001t0002g0264 others(19): Show |
22 | 88 | 0.2500 | 7 | c.118 others(24): Show |
INTS2 | ENSG00000108506.14 | transcript | ENST00000251334.7 | protein_coding | 8/24 | chr17 | TogoVar | |||||||
INTS4_chr11_77873720_77999668 | 77996359 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG01496.hp2 HG01975.hp2 HG02015.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0085 a0001c0001t0001g0155 a0001c0001t0001g0227 others(7): Show |
10 | 61 | 0.1639 | 7 | c.-17 others(18): Show |
INTS4 | ENSG00000149262.19 | transcript | ENST00000534064.6 | protein_coding | 1692 | chr11 | TogoVar | |||||||
INTS6_chr13_51356577_51458036 | 51455334 | T | TTCCAATC | upstream_gene_variant | MODIFIER | HG00438.hp2 HG01069.hp2 HG02698.hp2 others(15): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0008a0001c0002t0011a0001c0002t0020others(2): Show | a0001c0002t0008g0244 a0001c0002t0008g0328 a0001c0002t0008g0329 others(14): Show |
18 | 356 | 0.0506 | 7 | c.-28 others(18): Show |
INTS6 | ENSG00000102786.15 | transcript | ENST00000311234.9 | protein_coding | 2299 | chr13 | TogoVar | |||||||
INTS8_chr8_94818287_94886746 | 94861256 | A | ATTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00639.hp2 others(61): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(6): Show | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 others(58): Show |
64 | 113 | 0.5664 | 7 | c.207 others(26): Show |
INTS8 | ENSG00000164941.14 | transcript | ENST00000523731.6 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
INVS_chr9_100094243_100307175 | 100100904 | T | TATATATA | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp2 HG02717.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0014a0001c0001t0026 | a0001c0001t0005g0005 a0001c0001t0005g0006 a0001c0001t0005g0007 others(6): Show |
9 | 173 | 0.0520 | 7 | c.-25 others(24): Show |
INVS | ENSG00000119509.13 | transcript | ENST00000262457.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
INVS_chr9_100094243_100307175 | 100100905 | A | ATATATAT | intron_variant | MODIFIER | HG01109.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0037 |
2 | 180 | 0.0111 | 7 | c.-25 others(24): Show |
INVS | ENSG00000119509.13 | transcript | ENST00000262457.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
INVS_chr9_100094243_100307175 | 100137560 | C | CACTAGAT | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG00738.hp2 others(40): Show |
a0001a0006a0007 | a0001c0001a0001c0002a0006c0007others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(12): Show | a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0020 others(40): Show |
43 | 180 | 0.2389 | 7 | c.273 others(26): Show |
INVS | ENSG00000119509.13 | transcript | ENST00000262457.7 | protein_coding | 3/16 | chr9 | TogoVar | |||||||
INVS_chr9_100094243_100307175 | 100189106 | C | CTTTTTTT | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG00741.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0013others(5): Show | a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0020 others(26): Show |
29 | 129 | 0.2248 | 7 | c.274 others(26): Show |
INVS | ENSG00000119509.13 | transcript | ENST00000262457.7 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
IP6K1_chr3_49719294_49791542 | 49745748 | G | GGGAGGCT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(120): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0016 others(119): Show |
123 | 258 | 0.4767 | 7 | c.223 others(24): Show |
IP6K1 | ENSG00000176095.12 | transcript | ENST00000321599.9 | protein_coding | 2/5 | chr3 | TogoVar | |||||||
IP6K2_chr3_48683003_48722221 | 48687070 | C | CCTTTTTT | downstream_gene_variant | MODIFIER | HG00609.hp2 HG01069.hp1 HG01069.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(6): Show |
10 | 31 | 0.3226 | 7 | c.*12 others(18): Show |
IP6K2 | ENSG00000068745.15 | transcript | ENST00000328631.10 | protein_coding | 932 | chr3 | TogoVar | |||||||
IP6K3_chr6_33716662_33751905 | 33748642 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG01361.hp2 HG02818.hp1 HG03041.hp1 others(3): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0003a0001c0005t0003 | a0001c0003t0003g0061 a0001c0003t0003g0063 a0001c0003t0003g0064 others(3): Show |
6 | 98 | 0.0612 | 7 | c.-20 others(18): Show |
IP6K3 | ENSG00000161896.12 | transcript | ENST00000293756.5 | protein_coding | 1738 | chr6 | TogoVar | |||||||
IP6K3_chr6_33716662_33751905 | 33751560 | C | CCACCCTA | upstream_gene_variant | MODIFIER | HG00741.hp2 HG02055.hp1 HG02818.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0016 a0001c0003t0003g0068 |
5 | 364 | 0.0137 | 7 | c.-49 others(18): Show |
IP6K3 | ENSG00000161896.12 | transcript | ENST00000293756.5 | protein_coding | 4656 | chr6 | TogoVar | |||||||
IPCEF1_chr6_154149496_154361803 | 154313067 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00738.hp1 others(19): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0037 a0001c0001t0001g0063 a0001c0001t0001g0122 others(19): Show |
22 | 58 | 0.3793 | 7 | c.-61 others(26): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
IPCEF1_chr6_154149496_154361803 | 154357910 | T | TATATAAA | upstream_gene_variant | MODIFIER | HG00140.hp1 HG01168.hp2 HG02155.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(1): Show | a0001c0001t0001g0094 a0001c0001t0002g0105 a0001c0001t0009g0106 others(1): Show |
4 | 256 | 0.0156 | 7 | c.-13 others(18): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1108 | chr6 | TogoVar | |||||||
IPMK_chr10_58186517_58272894 | 58217688 | C | CAAAAAAA | intron_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01167.hp1 others(14): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0003g0253 a0001c0001t0004g0275 a0001c0001t0005g0256 others(14): Show |
17 | 131 | 0.1298 | 7 | c.374 others(24): Show |
IPMK | ENSG00000151151.6 | transcript | ENST00000373935.4 | protein_coding | 3/5 | chr10 | TogoVar | |||||||
IPMK_chr10_58186517_58272894 | 58229562 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00597.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0019 others(38): Show |
43 | 156 | 0.2756 | 7 | c.277 others(24): Show |
IPMK | ENSG00000151151.6 | transcript | ENST00000373935.4 | protein_coding | 2/5 | chr10 | TogoVar | |||||||
IPMK_chr10_58186517_58272894 | 58271041 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG01261.hp1 HG01346.hp2 HG02486.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008 | a0001c0001t0006g0268 a0001c0001t0006g0269 a0001c0001t0008g0271 others(3): Show |
6 | 322 | 0.0186 | 7 | c.-34 others(18): Show |
IPMK | ENSG00000151151.6 | transcript | ENST00000373935.4 | protein_coding | 3148 | chr10 | TogoVar | |||||||
IPO11_chr5_62407763_62633582 | 62568574 | C | CAAAAAAA | intron_variant | MODIFIER | HG00544.hp2 HG00733.hp2 HG00738.hp1 others(29): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0005a0001c0003t0001 | a0001c0002t0001g0007 a0001c0002t0001g0178 a0001c0002t0001g0188 others(29): Show |
32 | 132 | 0.2424 | 7 | c.258 others(26): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 27/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IPO11_chr5_62407763_62633582 | 62596268 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(131): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0012others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(5): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 others(131): Show |
134 | 260 | 0.5154 | 7 | c.267 others(26): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 28/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IPO7_chr11_9379652_9453127 | 9414619 | C | CTTTTTTT | intron_variant | MODIFIER | HG02486.hp1 HG02622.hp2 HG02895.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0008 | a0001c0001t0002g0224 a0001c0001t0004g0281 a0001c0001t0004g0282 others(3): Show |
6 | 139 | 0.0432 | 7 | c.636 others(22): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 5/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IPO7_chr11_9379652_9453127 | 9419545 | T | TAAAAAAA | intron_variant | MODIFIER | HG02071.hp1 HG02165.hp2 NA18747.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 others(11): Show |
14 | 235 | 0.0596 | 7 | c.727 others(22): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IPO7_chr11_9379652_9453127 | 9432989 | G | GTTTTTTT | intron_variant | MODIFIER | HG00738.hp2 HG01516.hp2 HG01517.hp2 others(6): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0004a0001c0003t0011 | a0001c0002t0004g0271 a0001c0002t0004g0272 a0001c0002t0004g0273 others(6): Show |
9 | 186 | 0.0484 | 7 | c.188 others(24): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
IPP_chr1_45693711_45755653 | 45709432 | C | CAAAAAAA | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG01943.hp2 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0008 others(42): Show |
45 | 97 | 0.4639 | 7 | c.153 others(26): Show |
IPP | ENSG00000197429.11 | transcript | ENST00000396478.4 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
IPP_chr1_45693711_45755653 | 45732361 | C | CAAAAAAA | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp1 HG02258.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0002 a0001c0001t0002g0034 a0001c0001t0002g0047 others(12): Show |
15 | 16 | 0.9375 | 7 | c.725 others(24): Show |
IPP | ENSG00000197429.11 | transcript | ENST00000396478.4 | protein_coding | 3/8 | chr1 | TogoVar | |||||||
IQANK1_chr8_143729139_143795645 | 143771743 | C | CCTCGGGG | intron_variant | MODIFIER | HG02257.hp2 HG03471.hp2 NA19030.hp2 |
a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0033 a0006c0006t0001g0034 a0006c0006t0001g0063 |
3 | 348 | 0.0086 | 7 | c.307 others(20): Show |
IQANK1 | ENSG00000203499.12 | transcript | ENST00000527139.7 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
IQCA1_chr2_236319151_236512476 | 236356921 | T | TTCATATA | intron_variant | MODIFIER | HG02055.hp2 HG02615.hp2 HG02630.hp1 others(9): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0045 a0001c0001t0002g0190 a0001c0001t0004g0053 others(9): Show |
12 | 206 | 0.0583 | 7 | c.186 others(26): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 15/18 | chr2 | TogoVar | |||||||
IQCA1_chr2_236319151_236512476 | 236357642 | A | AAATATAT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00639.hp2 others(110): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0046 others(109): Show |
113 | 198 | 0.5707 | 7 | c.186 others(26): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 15/18 | chr2 | TogoVar | |||||||
IQCD_chr12_113190446_113226094 | 113223435 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02559.hp2 HG02615.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0003t0001a0003c0004t0001 | a0001c0001t0001g0183 a0001c0003t0001g0017 a0001c0003t0001g0032 others(3): Show |
6 | 196 | 0.0306 | 7 | c.-25 others(18): Show |
IQCD | ENSG00000166578.10 | transcript | ENST00000416617.3 | protein_coding | 2342 | chr12 | TogoVar | |||||||
IQCE_chr7_2553979_2619728 | 2583822 | G | GGGGCGGA | intron_variant | MODIFIER | HG01192.hp1 HG02572.hp1 HG02896.hp1 others(2): Show |
a0007a0011 | a0007c0006a0011c0018 | a0007c0006t0024a0007c0006t0047a0007c0006t0086others(1): Show | a0007c0006t0024g0150 a0007c0006t0047g0111 a0007c0006t0086g0124 others(2): Show |
5 | 414 | 0.0121 | 7 | c.774 others(22): Show |
IQCE | ENSG00000106012.19 | transcript | ENST00000402050.7 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
IQCE_chr7_2553979_2619728 | 2583908 | G | GGGGCGGA | intron_variant | MODIFIER | HG01192.hp1 HG02572.hp1 HG02896.hp1 others(3): Show |
a0003a0007a0011 | a0003c0005a0007c0006a0011c0018 | a0003c0005t0088a0007c0006t0024a0007c0006t0047others(2): Show | a0003c0005t0088g0164 a0007c0006t0024g0150 a0007c0006t0047g0111 others(3): Show |
6 | 411 | 0.0146 | 7 | c.774 others(22): Show |
IQCE | ENSG00000106012.19 | transcript | ENST00000402050.7 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
IQCE_chr7_2553979_2619728 | 2588654 | G | GTTTTTTT | intron_variant | MODIFIER | HG01192.hp2 HG01243.hp1 HG02486.hp1 others(4): Show |
a0001 | a0001c0010a0001c0033 | a0001c0010t0009a0001c0010t0054a0001c0033t0009 | a0001c0010t0009g0004 a0001c0010t0009g0120 a0001c0010t0009g0121 others(4): Show |
7 | 178 | 0.0393 | 7 | c.104 others(24): Show |
IQCE | ENSG00000106012.19 | transcript | ENST00000402050.7 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
IQCG_chr3_197884077_197964991 | 197932957 | T | TTATTATA | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00558.hp2 others(90): Show |
a0002a0004 | a0002c0002a0004c0011 | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(4): Show | a0002c0002t0001g0001 a0002c0002t0001g0021 a0002c0002t0001g0022 others(89): Show |
93 | 217 | 0.4286 | 7 | c.516 others(22): Show |
IQCG | ENSG00000114473.14 | transcript | ENST00000265239.11 | protein_coding | 5/11 | chr3 | TogoVar | |||||||
IQCH_chr15_67249786_67506804 | 67253247 | A | AAACCCCG | upstream_gene_variant | MODIFIER | NA18747.hp2 NA18991.hp1 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 |
3 | 274 | 0.0109 | 7 | c.-16 others(18): Show |
IQCH | ENSG00000103599.20 | transcript | ENST00000335894.9 | protein_coding | 1538 | chr15 | TogoVar | |||||||
IQCJ_chr3_159064319_159268747 | 159109527 | T | TAAAAAAA | intron_variant | MODIFIER | HG00621.hp1 HG00673.hp2 HG00738.hp1 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(44): Show |
48 | 106 | 0.4528 | 7 | c.9+4 others(22): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IQCK_chr16_19713271_19863467 | 19861087 | T | TAAAAAAA | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01167.hp2 HG01433.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0003 a0001c0001t0001g0083 a0001c0001t0001g0244 others(4): Show |
7 | 54 | 0.1296 | 7 | c.*45 others(18): Show |
IQCK | ENSG00000174628.17 | transcript | ENST00000695302.1 | protein_coding | 2621 | chr16 | TogoVar | |||||||
IQCM_chr4_149346709_149820843 | 149374998 | T | TGTGTGTG | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00609.hp1 others(35): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0026 others(35): Show |
38 | 182 | 0.2088 | 7 | c.139 others(28): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 13/13 | chr4 | TogoVar | |||||||
IQCM_chr4_149346709_149820843 | 149726140 | A | AAAGAAAG | intron_variant | MODIFIER | HG02572.hp2 HG02976.hp2 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0101 a0001c0001t0002g0217 a0001c0001t0002g0226 others(1): Show |
4 | 237 | 0.0169 | 7 | c.385 others(24): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 5/13 | chr4 | TogoVar |