| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| INTS7_chr1_211935403_212040557 | 211974270 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0146 | 1 | 352 | 0.0028 | 26 | c.181 others(43): Show |
INTS7 | ENSG00000143493.13 | transcript | ENST00000366994.8 | protein_coding | 13/19 | chr1 | TogoVar | ||||||
| INTU_chr4_127627957_127731737 | 127684619 | C | CTCTTCCT others(19): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0287 | 1 | 358 | 0.0028 | 26 | c.125 others(43): Show |
INTU | ENSG00000164066.13 | transcript | ENST00000335251.11 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| INTU_chr4_127627957_127731737 | 127691962 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG01978.hp2 NA18943.hp1 NA18951.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0070a0002c0003t0071others(1): Show | a0002c0003t0003g0320a0002c0003t0070g0318a0002c0003t0071g0027others(1): Show | 4 | 358 | 0.0112 | 26 | c.144 others(45): Show |
INTU | ENSG00000164066.13 | transcript | ENST00000335251.11 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| INTU_chr4_127627957_127731737 | 127691962 | G | GTGTATAT others(19): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01109.hp2 HG01258.hp1 others(9): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0005 | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(4): Show | a0001c0001t0002g0036a0001c0001t0002g0038a0001c0001t0002g0064others(9): Show | 12 | 358 | 0.0335 | 26 | c.144 others(45): Show |
INTU | ENSG00000164066.13 | transcript | ENST00000335251.11 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| INTU_chr4_127627957_127731737 | 127691962 | G | GTGTGTAT others(19): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0006 | a0001c0006t0058 | a0001c0006t0058g0274 | 1 | 358 | 0.0028 | 26 | c.144 others(45): Show |
INTU | ENSG00000164066.13 | transcript | ENST00000335251.11 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| INVS_chr9_100094243_100307175 | 100299555 | A | AACACACA others(19): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 182 | 0.0055 | 26 | c.309 others(44): Show |
INVS | ENSG00000119509.13 | transcript | ENST00000262457.7 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| IP6K1_chr3_49719294_49791542 | 49731887 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 260 | 0.0039 | 26 | c.616 others(41): Show |
IP6K1 | ENSG00000176095.12 | transcript | ENST00000321599.9 | protein_coding | 4/5 | chr3 | TogoVar | ||||||
| IP6K1_chr3_49719294_49791542 | 49780309 | T | TACACACA others(19): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG01081.hp2 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0070others(23): Show | 26 | 260 | 0.1000 | 26 | c.-12 others(45): Show |
IP6K1 | ENSG00000176095.12 | transcript | ENST00000321599.9 | protein_coding | 1/5 | chr3 | TogoVar | ||||||
| IPCEF1_chr6_154149496_154361803 | 154180414 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0242 | 1 | 264 | 0.0038 | 26 | c.911 others(45): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 10/11 | chr6 | TogoVar | ||||||
| IPCEF1_chr6_154149496_154361803 | 154290893 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0149a0001c0001t0005g0150 | 2 | 264 | 0.0076 | 26 | c.-61 others(43): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1/11 | chr6 | TogoVar | ||||||
| IPCEF1_chr6_154149496_154361803 | 154313067 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0248 | 1 | 264 | 0.0038 | 26 | c.-61 others(45): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1/11 | chr6 | TogoVar | ||||||
| IPCEF1_chr6_154149496_154361803 | 154331405 | A | AAGAAAGA others(19): Show |
intron_variant | MODIFIER | NA18981.hp2 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0177a0001c0001t0002g0220 | 2 | 264 | 0.0076 | 26 | c.-62 others(45): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1/11 | chr6 | TogoVar | ||||||
| IPCEF1_chr6_154149496_154361803 | 154331405 | A | AAGAAAGA others(19): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0078 | 1 | 264 | 0.0038 | 26 | c.-62 others(45): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1/11 | chr6 | TogoVar | ||||||
| IPMK_chr10_58186517_58272894 | 58211901 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG03471.hp1 NA18963.hp1 NA18987.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0172a0002c0002t0002g0182a0002c0002t0002g0184others(5): Show | 8 | 346 | 0.0231 | 26 | c.546 others(43): Show |
IPMK | ENSG00000151151.6 | transcript | ENST00000373935.4 | protein_coding | 4/5 | chr10 | TogoVar | ||||||
| IPMK_chr10_58186517_58272894 | 58259671 | T | TAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01884.hp2 HG02056.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0024 | a0001c0001t0012g0128a0001c0001t0012g0129a0001c0001t0012g0130others(1): Show | 4 | 346 | 0.0116 | 26 | c.190 others(43): Show |
IPMK | ENSG00000151151.6 | transcript | ENST00000373935.4 | protein_coding | 1/5 | chr10 | TogoVar | ||||||
| IPO11_chr5_62407763_62633582 | 62435082 | G | GTGTATAT others(19): Show |
intron_variant | MODIFIER | HG00544.hp2 NA18985.hp1 NA19003.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0225a0001c0002t0001g0226a0001c0002t0001g0260 | 3 | 330 | 0.0091 | 26 | c.-6- others(41): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| IPO11_chr5_62407763_62633582 | 62435210 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 330 | 0.0030 | 26 | c.-6- others(41): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| IPO11_chr5_62407763_62633582 | 62503419 | A | ATATTAAT others(19): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0198 | 1 | 330 | 0.0030 | 26 | c.159 others(45): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 16/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| IPO11_chr5_62407763_62633582 | 62598464 | C | CTTTCTTT others(19): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0283 | 1 | 330 | 0.0030 | 26 | c.267 others(45): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 28/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| IPO5_chr13_97948675_98029296 | 98010780 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG00558.hp2 NA18981.hp1 NA18994.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003a0001c0002t0004 | a0001c0001t0001g0222a0001c0001t0001g0225a0001c0001t0001g0227others(5): Show | 8 | 380 | 0.0211 | 26 | c.205 others(43): Show |
IPO5 | ENSG00000065150.21 | transcript | ENST00000651721.2 | protein_coding | 20/28 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| IPO7_chr11_9379652_9453127 | 9397341 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 | 1 | 314 | 0.0032 | 26 | c.85- others(41): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| IPO7_chr11_9379652_9453127 | 9397341 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02056.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189a0001c0001t0002g0240 | 2 | 314 | 0.0064 | 26 | c.85- others(41): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| IPO7_chr11_9379652_9453127 | 9397341 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0183 | 1 | 314 | 0.0032 | 26 | c.85- others(41): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| IPO7_chr11_9379652_9453127 | 9397341 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0214 | 1 | 314 | 0.0032 | 26 | c.85- others(41): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| IPO7_chr11_9379652_9453127 | 9397341 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 314 | 0.0032 | 26 | c.85- others(41): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| IPO7_chr11_9379652_9453127 | 9397341 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0178 | 1 | 314 | 0.0032 | 26 | c.85- others(41): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| IPO7_chr11_9379652_9453127 | 9397341 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 314 | 0.0032 | 26 | c.85- others(41): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| IPO7_chr11_9379652_9453127 | 9397341 | A | AAAAAATA others(19): Show |
intron_variant | MODIFIER | NA18961.hp2 NA19074.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070a0001c0001t0001g0142a0001c0001t0001g0146 | 3 | 314 | 0.0096 | 26 | c.85- others(41): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| IPO7_chr11_9379652_9453127 | 9397361 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0294 | 1 | 314 | 0.0032 | 26 | c.85- others(41): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| IPO9_chr1_201824157_201889291 | 201859180 | A | AATAAATA others(19): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01361.hp2 HG03831.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0018others(3): Show | a0001c0001t0001g0205a0001c0001t0004g0133a0001c0001t0018g0134others(3): Show | 6 | 396 | 0.0152 | 26 | c.146 others(43): Show |
IPO9 | ENSG00000198700.10 | transcript | ENST00000361565.9 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| IPP_chr1_45693711_45755653 | 45735780 | A | ACACCACA others(19): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp1 others(83): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0002g0067a0001c0001t0002g0068a0001c0001t0002g0069others(83): Show | 86 | 128 | 0.6719 | 26 | c.724 others(43): Show |
IPP | ENSG00000197429.11 | transcript | ENST00000396478.4 | protein_coding | 3/8 | chr1 | TogoVar | ||||||
| IPP_chr1_45693711_45755653 | 45735790 | A | AGGCCACC others(19): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0127 | 1 | 128 | 0.0078 | 26 | c.724 others(43): Show |
IPP | ENSG00000197429.11 | transcript | ENST00000396478.4 | protein_coding | 3/8 | chr1 | TogoVar | ||||||
| IQANK1_chr8_143729139_143795645 | 143751660 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG03516.hp1 |
a0004a0008 | a0004c0004a0008c0008 | a0004c0004t0001a0008c0008t0001 | a0004c0004t0001g0169a0004c0004t0001g0181a0008c0008t0001g0128 | 3 | 349 | 0.0086 | 26 | c.175 others(45): Show |
IQANK1 | ENSG00000203499.12 | transcript | ENST00000527139.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| IQANK1_chr8_143729139_143795645 | 143751662 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG02683.hp2 NA18995.hp2 NA20752.hp2 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0067a0004c0004t0001g0152a0004c0004t0001g0171 | 3 | 349 | 0.0086 | 26 | c.175 others(45): Show |
IQANK1 | ENSG00000203499.12 | transcript | ENST00000527139.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| IQANK1_chr8_143729139_143795645 | 143751664 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG04184.hp2 others(4): Show |
a0001a0021 | a0001c0001a0021c0024 | a0001c0001t0001a0021c0024t0001 | a0001c0001t0001g0047a0001c0001t0001g0055a0001c0001t0001g0076others(4): Show | 7 | 349 | 0.0201 | 26 | c.175 others(45): Show |
IQANK1 | ENSG00000203499.12 | transcript | ENST00000527139.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| IQANK1_chr8_143729139_143795645 | 143751664 | G | GTGTATAT others(19): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02027.hp2 HG02135.hp1 others(6): Show |
a0001a0007a0016others(1): Show | a0001c0001a0007c0007a0016c0014others(1): Show | a0001c0001t0001a0007c0007t0001a0016c0014t0001others(1): Show | a0001c0001t0001g0086a0001c0001t0001g0091a0001c0001t0001g0094others(6): Show | 9 | 349 | 0.0258 | 26 | c.175 others(45): Show |
IQANK1 | ENSG00000203499.12 | transcript | ENST00000527139.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| IQANK1_chr8_143729139_143795645 | 143751664 | G | GTGTGTAT others(19): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0056 | 1 | 349 | 0.0029 | 26 | c.175 others(45): Show |
IQANK1 | ENSG00000203499.12 | transcript | ENST00000527139.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| IQCA1_chr2_236319151_236512476 | 236347508 | C | CTATATAT others(19): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01496.hp1 HG02280.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0004a0003c0003t0003 | a0001c0001t0001g0037a0001c0001t0001g0053a0001c0001t0001g0113others(3): Show | 6 | 208 | 0.0289 | 26 | c.187 others(45): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 15/18 | chr2 | TogoVar | ||||||
| IQCA1_chr2_236319151_236512476 | 236347508 | C | CTCTATAT others(19): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 208 | 0.0048 | 26 | c.187 others(45): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 15/18 | chr2 | TogoVar | ||||||
| IQCA1_chr2_236319151_236512476 | 236358023 | A | ATGAATAT others(19): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0021 | a0001c0021t0008 | a0001c0021t0008g0019 | 1 | 208 | 0.0048 | 26 | c.186 others(45): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 15/18 | chr2 | TogoVar | ||||||
| IQCA1_chr2_236319151_236512476 | 236358376 | T | TATACTAT others(19): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0129 | 1 | 208 | 0.0048 | 26 | c.186 others(45): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 15/18 | chr2 | TogoVar | ||||||
| IQCA1_chr2_236319151_236512476 | 236459589 | G | GTATATAC others(19): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02451.hp1 HG02735.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0083a0001c0001t0001g0101a0001c0001t0001g0146others(3): Show | 6 | 208 | 0.0289 | 26 | c.926 others(43): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 6/18 | chr2 | TogoVar | ||||||
| IQCB1_chr3_121764761_121840060 | 121780817 | C | CAGAACCT others(19): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0132 | 1 | 308 | 0.0033 | 26 | c.141 others(43): Show |
IQCB1 | ENSG00000173226.17 | transcript | ENST00000310864.11 | protein_coding | 13/14 | chr3 | TogoVar | ||||||
| IQCE_chr7_2553979_2619728 | 2577957 | G | GTGGCTGT others(19): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02970.hp2 HG03098.hp1 others(1): Show |
a0007 | a0007c0016a0007c0037 | a0007c0016t0035a0007c0016t0050a0007c0016t0079others(1): Show | a0007c0016t0035g0143a0007c0016t0050g0266a0007c0016t0079g0145others(1): Show | 4 | 416 | 0.0096 | 26 | c.466 others(41): Show |
IQCE | ENSG00000106012.19 | transcript | ENST00000402050.7 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| IQCE_chr7_2553979_2619728 | 2603217 | T | TGCCCAGG others(19): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0353 | 1 | 416 | 0.0024 | 26 | c.163 others(45): Show |
IQCE | ENSG00000106012.19 | transcript | ENST00000402050.7 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| IQCE_chr7_2553979_2619728 | 2615295 | A | ATATATGT others(19): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02148.hp1 HG02293.hp1 others(5): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0002a0002c0002t0003a0002c0002t0015others(1): Show | a0002c0002t0002g0029a0002c0002t0002g0034a0002c0002t0002g0058others(5): Show | 8 | 416 | 0.0192 | 26 | c.*51 others(37): Show |
IQCE | ENSG00000106012.19 | transcript | ENST00000402050.7 | protein_coding | 568 | chr7 | TogoVar | ||||||
| IQCH_chr15_67249786_67506804 | 67358207 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG03471.hp2 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215a0001c0001t0001g0269 | 2 | 276 | 0.0073 | 26 | c.714 others(41): Show |
IQCH | ENSG00000103599.20 | transcript | ENST00000335894.9 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| IQCJ_chr3_159064319_159268747 | 159116628 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 252 | 0.0040 | 26 | c.9+4 others(41): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| IQCJ_chr3_159064319_159268747 | 159200030 | C | CTATATAT others(19): Show |
intron_variant | MODIFIER | HG01891.hp2 HG04199.hp1 NA18986.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049a0001c0001t0002g0113a0001c0001t0002g0233 | 3 | 252 | 0.0119 | 26 | c.10- others(43): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| IQCJ_chr3_159064319_159268747 | 159200104 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02056.hp1 HG02280.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004a0001c0001t0002g0155a0001c0001t0002g0172others(3): Show | 6 | 252 | 0.0238 | 26 | c.10- others(43): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |