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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALPK2_chr18_58476247_58634091 | 58626804 | T | TTGTTTGA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(99): Show |
a0001a0002a0003others(21): Show | a0001c0002a0001c0079a0001c0082others(35): Show | a0001c0002t0001a0001c0002t0003a0001c0079t0001others(45): Show | a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0166 others(99): Show |
102 | 318 | 0.3208 | 7 | c.-21 others(24): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 1/12 | chr18 | TogoVar | |||||||
ALPK3_chr15_84812356_84878479 | 84833988 | T | TGTGTGTG | intron_variant | MODIFIER | HG02738.hp1 NA18954.hp2 NA18984.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0012 | a0001c0001t0001a0001c0001t0005a0001c0002t0002others(1): Show | a0001c0001t0001g0130 a0001c0001t0005g0131 a0001c0002t0002g0213 others(1): Show |
4 | 329 | 0.0122 | 7 | c.305 others(24): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 3/13 | chr15 | TogoVar | |||||||
ALPK3_chr15_84812356_84878479 | 84853383 | T | TGGGTAGA | intron_variant | MODIFIER | HG01433.hp2 NA19002.hp1 NA19087.hp2 |
a0007 | a0007c0017a0007c0026 | a0007c0017t0025a0007c0026t0005 | a0007c0017t0025g0078 a0007c0026t0005g0018 |
3 | 338 | 0.0089 | 7 | c.165 others(26): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ALX3_chr1_110054870_110075672 | 110062645 | G | GTGTGTGT | intron_variant | MODIFIER | HG00280.hp2 HG01069.hp1 HG01175.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0012 others(7): Show |
14 | 182 | 0.0769 | 7 | c.595 others(24): Show |
ALX3 | ENSG00000156150.9 | transcript | ENST00000647563.2 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
AMDHD1_chr12_95938331_95973720 | 95961144 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG01167.hp2 HG01261.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0001g0031 a0001c0001t0001g0095 a0001c0001t0001g0096 others(15): Show |
18 | 96 | 0.1875 | 7 | c.813 others(22): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AMDHD1_chr12_95938331_95973720 | 95964928 | C | CAAAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG01496.hp2 HG02015.hp1 others(6): Show |
a0001a0007 | a0001c0002a0007c0014 | a0001c0002t0003a0007c0014t0003 | a0001c0002t0003g0016 a0001c0002t0003g0232 a0001c0002t0003g0241 others(4): Show |
9 | 73 | 0.1233 | 7 | c.939 others(22): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AMELY_chrY_6860918_6916752 | 6907379 | C | CAAAAAAA | intron_variant | MODIFIER | HG01074.hp1 HG01106.hp1 HG01109.hp1 others(42): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(31): Show |
45 | 127 | 0.3543 | 7 | c.-11 others(26): Show |
AMELY | ENSG00000099721.16 | transcript | ENST00000651267.2 | protein_coding | 1/6 | chrY | TogoVar | |||||||
AMER2_chr13_25156679_25177288 | 25174782 | T | TTCCTTCC | upstream_gene_variant | MODIFIER | HG02523.hp2 NA18981.hp2 NA19072.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0075 | a0001c0001t0001g0000 a0001c0001t0009g0000 a0001c0001t0075g0000 |
4 | 313 | 0.0128 | 7 | c.-31 others(18): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2495 | chr13 | TogoVar | |||||||
AMFR_chr16_56356452_56430545 | 56359469 | T | TAAAAAAA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG01258.hp1 HG02015.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0056 | a0001c0001t0003g0243 a0001c0001t0003g0255 a0001c0001t0003g0267 others(3): Show |
6 | 90 | 0.0667 | 7 | c.*34 others(18): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 1982 | chr16 | TogoVar | |||||||
AMN1_chr12_31666142_31734021 | 31685800 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(296): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(262): Show |
299 | 355 | 0.8423 | 7 | c.703 others(24): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 6/6 | chr12 | TogoVar | |||||||
AMN1_chr12_31666142_31734021 | 31685807 | A | AAAAAAAG | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp2 HG00642.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0024 others(27): Show |
42 | 421 | 0.0998 | 7 | c.703 others(24): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 6/6 | chr12 | TogoVar | |||||||
AMN1_chr12_31666142_31734021 | 31699395 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG01123.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0323 others(17): Show |
21 | 41 | 0.5122 | 7 | c.317 others(24): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38433724 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00597.hp1 others(59): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0056 others(59): Show |
62 | 77 | 0.8052 | 7 | c.113 others(26): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 12/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38473710 | C | CAAAAAAA | intron_variant | MODIFIER | HG01256.hp2 HG01361.hp1 HG02602.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0096 a0001c0001t0003g0037 a0001c0002t0002g0064 others(3): Show |
6 | 150 | 0.0400 | 7 | c.590 others(24): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 7/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38540692 | C | CAAAAAAA | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG00733.hp2 others(18): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0023 a0001c0001t0001g0071 a0001c0001t0001g0149 others(18): Show |
21 | 43 | 0.4884 | 7 | c.70- others(22): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | |||||||
AMTN_chr4_70513569_70537743 | 70515019 | A | AATATGGC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(147): Show |
a0001a0008a0009 | a0001c0001a0001c0002a0008c0012others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0006others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0022 a0001c0001t0001g0029 others(34): Show |
150 | 456 | 0.3289 | 7 | c.-36 others(18): Show |
AMTN | ENSG00000187689.10 | transcript | ENST00000339336.9 | protein_coding | 3549 | chr4 | TogoVar | |||||||
AMTN_chr4_70513569_70537743 | 70519699 | T | TTTTTTTA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(217): Show |
a0001a0005a0008others(1): Show | a0001c0001a0001c0002a0005c0006others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0006others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0014 others(57): Show |
220 | 456 | 0.4825 | 7 | c.54+ others(20): Show |
AMTN | ENSG00000187689.10 | transcript | ENST00000339336.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
AMTN_chr4_70513569_70537743 | 70521640 | C | CTTTTTTT | intron_variant | MODIFIER | HG01109.hp2 HG01261.hp2 HG01943.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0010 a0002c0003t0001g0010 a0002c0003t0001g0081 others(3): Show |
11 | 20 | 0.5500 | 7 | c.55- others(22): Show |
AMTN | ENSG00000187689.10 | transcript | ENST00000339336.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
AMZ1_chr7_2683202_2724683 | 2691730 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(110): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0002a0001c0004others(16): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(58): Show | a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0264 others(108): Show |
113 | 210 | 0.5381 | 7 | c.-21 others(26): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ANAPC10_chr4_144989576_145103196 | 145026988 | T | TATATATA | intron_variant | MODIFIER | HG01261.hp1 HG03486.hp1 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0160 |
3 | 284 | 0.0106 | 7 | c.328 others(26): Show |
ANAPC10 | ENSG00000164162.14 | transcript | ENST00000507656.6 | protein_coding | 4/4 | chr4 | TogoVar | |||||||
ANAPC1_chr2_111762640_111889193 | 111764893 | T | TATATATA | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG01070.hp2 others(16): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0014a0001c0004t0003a0001c0004t0017others(3): Show | a0001c0001t0014g0307 a0001c0004t0003g0153 a0001c0004t0003g0154 others(16): Show |
19 | 331 | 0.0574 | 7 | c.*43 others(18): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 2746 | chr2 | TogoVar | |||||||
ANAPC1_chr2_111762640_111889193 | 111843820 | C | CTTTTTTT | intron_variant | MODIFIER | HG01192.hp1 HG01257.hp1 HG01258.hp1 others(15): Show |
a0001 | a0001c0004a0001c0006a0001c0007 | a0001c0004t0003a0001c0006t0005a0001c0006t0016others(2): Show | a0001c0004t0003g0189 a0001c0006t0005g0002 a0001c0006t0005g0008 others(14): Show |
18 | 88 | 0.2045 | 7 | c.185 others(24): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 16/47 | chr2 | TogoVar | |||||||
ANAPC1_chr2_111762640_111889193 | 111864462 | A | ATATACTT | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG01884.hp2 others(8): Show |
a0001 | a0001c0002a0001c0003a0001c0006others(1): Show | a0001c0002t0002a0001c0003t0004a0001c0006t0005others(2): Show | a0001c0002t0002g0152 a0001c0002t0002g0200 a0001c0002t0002g0201 others(8): Show |
11 | 181 | 0.0608 | 7 | c.831 others(22): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 8/47 | chr2 | TogoVar | |||||||
ANAPC7_chr12_110367900_110408708 | 110376568 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(118): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0021 others(117): Show |
121 | 177 | 0.6836 | 7 | c.135 others(24): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 9/10 | chr12 | TogoVar | |||||||
ANGEL1_chr14_76781009_76817882 | 76799278 | C | CTTTTTTT | intron_variant | MODIFIER | HG02145.hp1 HG02523.hp1 HG03927.hp1 others(5): Show |
a0001a0002 | a0001c0006a0002c0002 | a0001c0006t0004a0002c0002t0003a0002c0002t0026 | a0001c0006t0004g0137 a0002c0002t0003g0219 a0002c0002t0003g0220 others(5): Show |
8 | 28 | 0.2857 | 7 | c.161 others(26): Show |
ANGEL1 | ENSG00000013523.11 | transcript | ENST00000251089.8 | protein_coding | 7/9 | chr14 | TogoVar | |||||||
ANGEL2_chr1_212987182_213020867 | 212996636 | A | ATATATAT | intron_variant | MODIFIER | HG02723.hp1 NA18940.hp1 NA18965.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0152 a0001c0001t0002g0187 a0001c0001t0003g0214 |
3 | 287 | 0.0105 | 7 | c.148 others(24): Show |
ANGEL2 | ENSG00000174606.14 | transcript | ENST00000366962.8 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
ANGEL2_chr1_212987182_213020867 | 212996638 | A | ATATATAT | intron_variant | MODIFIER | HG01515.hp2 HG01517.hp1 HG02572.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0045 a0001c0001t0004g0157 a0001c0001t0007g0026 others(1): Show |
6 | 251 | 0.0239 | 7 | c.148 others(24): Show |
ANGEL2 | ENSG00000174606.14 | transcript | ENST00000366962.8 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
ANGPT2_chr8_6494632_6568245 | 6523580 | G | GGTTTTTT | intron_variant | MODIFIER | HG00735.hp1 HG02258.hp1 HG02615.hp1 others(8): Show |
a0001 | a0001c0002a0001c0003a0001c0011others(3): Show | a0001c0002t0003a0001c0003t0040a0001c0011t0013others(6): Show | a0001c0002t0003g0187 a0001c0003t0040g0230 a0001c0011t0013g0185 others(8): Show |
11 | 334 | 0.0329 | 7 | c.567 others(24): Show |
ANGPT2 | ENSG00000091879.14 | transcript | ENST00000629816.3 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
ANGPTL4_chr19_8359155_8379370 | 8368024 | C | CTTTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG01070.hp1 HG01071.hp1 others(46): Show |
a0001a0003 | a0001c0001a0001c0007a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(5): Show | a0001c0001t0001g0013 a0001c0001t0001g0062 a0001c0001t0002g0006 others(21): Show |
49 | 304 | 0.1612 | 7 | c.548 others(24): Show |
ANGPTL4 | ENSG00000167772.12 | transcript | ENST00000301455.7 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ANGPTL5_chr11_101885674_101921522 | 101889409 | A | AAAGAAAG | downstream_gene_variant | MODIFIER | HG02723.hp2 HG02818.hp1 HG03516.hp1 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0001 | a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0011t0001g0294 |
3 | 420 | 0.0071 | 7 | c.*18 others(18): Show |
ANGPTL5 | ENSG00000187151.7 | transcript | ENST00000334289.7 | protein_coding | 1264 | chr11 | TogoVar | |||||||
ANGPTL6_chr19_10087338_10107678 | 10104317 | G | GTGTGTGT | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02572.hp2 HG02976.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0110 |
5 | 167 | 0.0299 | 7 | c.-17 others(18): Show |
ANGPTL6 | ENSG00000130812.11 | transcript | ENST00000253109.5 | protein_coding | 1640 | chr19 | TogoVar | |||||||
ANHX_chr12_133213312_133240877 | 133217060 | G | GAGCCTCC | downstream_gene_variant | MODIFIER | HG01106.hp2 HG01243.hp1 HG01884.hp1 others(27): Show |
a0002a0004a0006 | a0002c0002a0004c0004a0006c0015 | a0002c0002t0002a0002c0002t0003a0002c0002t0005others(3): Show | a0002c0002t0002g0024 a0002c0002t0002g0055 a0002c0002t0002g0065 others(22): Show |
30 | 440 | 0.0682 | 7 | c.*18 others(18): Show |
ANHX | ENSG00000227059.7 | transcript | ENST00000545940.6 | protein_coding | 1251 | chr12 | TogoVar | |||||||
ANK2_chr4_113044653_113388736 | 113048277 | T | TATATATA | upstream_gene_variant | MODIFIER | HG00558.hp1 NA18969.hp2 |
a0001a0010 | a0001c0001a0010c0018 | a0001c0001t0001a0010c0018t0001 | a0001c0001t0001g0155 a0010c0018t0001g0049 |
2 | 168 | 0.0119 | 7 | c.-14 others(18): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 1375 | chr4 | TogoVar | |||||||
ANK2_chr4_113044653_113388736 | 113072742 | A | ATTTTTTT | intron_variant | MODIFIER | HG00738.hp1 HG01884.hp2 HG02738.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0035 | a0001c0001t0001a0002c0002t0001a0002c0035t0001 | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0093 others(4): Show |
7 | 110 | 0.0636 | 7 | c.84+ others(24): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 1/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ANK2_chr4_113044653_113388736 | 113186587 | T | TCTCTCTC | intron_variant | MODIFIER | HG00738.hp1 NA18969.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 a0001c0001t0001g0155 |
2 | 156 | 0.0128 | 7 | c.187 others(24): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 2/45 | chr4 | TogoVar | |||||||
ANK3_chr10_60021298_60394875 | 60036422 | A | ATTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG01123.hp2 HG02615.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0011others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0033others(9): Show | a0001c0001t0002g0044 a0001c0001t0002g0070 a0001c0001t0004g0085 others(10): Show |
13 | 41 | 0.3171 | 7 | c.*19 others(24): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 43/43 | chr10 | TogoVar | |||||||
ANK3_chr10_60021298_60394875 | 60100234 | G | GTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00544.hp2 others(21): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0008others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(16): Show | a0001c0001t0001g0051 a0001c0001t0001g0103 a0001c0001t0001g0163 others(21): Show |
24 | 33 | 0.7273 | 7 | c.332 others(26): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 28/43 | chr10 | TogoVar | |||||||
ANK3_chr10_60021298_60394875 | 60137374 | G | GAAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp2 HG01261.hp2 others(9): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0047a0001c0052others(7): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0010others(9): Show | a0001c0001t0001g0062 a0001c0001t0007g0076 a0001c0001t0010g0017 others(9): Show |
12 | 66 | 0.1818 | 7 | c.273 others(26): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 24/43 | chr10 | TogoVar | |||||||
ANK3_chr10_60021298_60394875 | 60143211 | G | GTAATCAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(178): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0002a0001c0005others(83): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(133): Show | a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0062 others(178): Show |
181 | 190 | 0.9526 | 7 | c.261 others(26): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 23/43 | chr10 | TogoVar | |||||||
ANK3_chr10_60021298_60394875 | 60177593 | C | CTTTTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01081.hp1 others(41): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0005others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0051 a0001c0001t0001g0062 a0001c0001t0001g0119 others(41): Show |
44 | 94 | 0.4681 | 7 | c.218 others(26): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 18/43 | chr10 | TogoVar | |||||||
ANK3_chr10_60021298_60394875 | 60180594 | C | CAAAAAAA | intron_variant | MODIFIER | HG02258.hp1 HG02559.hp2 HG02717.hp1 others(6): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0027a0001c0039others(5): Show | a0001c0001t0006a0001c0027t0008a0001c0039t0012others(6): Show | a0001c0001t0006g0003 a0001c0027t0008g0029 a0001c0039t0012g0034 others(6): Show |
9 | 82 | 0.1098 | 7 | c.218 others(24): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 18/43 | chr10 | TogoVar | |||||||
ANK3_chr10_60021298_60394875 | 60240306 | A | ATATTTTT | intron_variant | MODIFIER | HG00323.hp2 HG01496.hp1 HG01515.hp2 others(17): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0002a0001c0048others(9): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0002g0044 a0001c0001t0003g0113 a0001c0001t0004g0112 others(17): Show |
20 | 51 | 0.3922 | 7 | c.799 others(24): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 7/43 | chr10 | TogoVar | |||||||
ANK3_chr10_60021298_60394875 | 60240306 | A | ATTTTTTT | intron_variant | MODIFIER | HG02083.hp1 HG02135.hp1 HG02647.hp1 others(4): Show |
a0001a0006a0023 | a0001c0001a0001c0007a0001c0015others(2): Show | a0001c0001t0001a0001c0001t0026a0001c0007t0003others(3): Show | a0001c0001t0001g0106 a0001c0001t0001g0178 a0001c0001t0026g0073 others(4): Show |
7 | 38 | 0.1842 | 7 | c.799 others(24): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 7/43 | chr10 | TogoVar | |||||||
ANKAR_chr2_189669670_189751647 | 189720346 | C | CAAGTGAT | intron_variant | MODIFIER | NA18939.hp1 NA18983.hp2 NA19074.hp1 |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0060 a0003c0002t0001g0061 a0003c0002t0001g0062 |
3 | 294 | 0.0102 | 7 | c.246 others(24): Show |
ANKAR | ENSG00000151687.15 | transcript | ENST00000684021.1 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANKAR_chr2_189669670_189751647 | 189722338 | C | CAAAAAAA | intron_variant | MODIFIER | HG01192.hp2 HG01884.hp1 HG01891.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0233 a0001c0001t0002g0249 a0001c0001t0002g0250 others(17): Show |
20 | 25 | 0.8000 | 7 | c.263 others(26): Show |
ANKAR | ENSG00000151687.15 | transcript | ENST00000684021.1 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANKAR_chr2_189669670_189751647 | 189736499 | G | GTTTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00642.hp1 others(27): Show |
a0001a0008a0013others(1): Show | a0001c0001a0001c0008a0008c0016others(2): Show | a0001c0001t0001a0001c0008t0001a0008c0016t0001others(2): Show | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0021 others(27): Show |
30 | 63 | 0.4762 | 7 | c.342 others(26): Show |
ANKAR | ENSG00000151687.15 | transcript | ENST00000684021.1 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANKDD1A_chr15_64906902_64963691 | 64953522 | T | TTCTCCTC | intron_variant | MODIFIER | HG00639.hp1 HG01168.hp1 HG01169.hp1 others(5): Show |
a0001a0002a0007 | a0001c0002a0001c0004a0002c0003others(1): Show | a0001c0002t0006a0001c0004t0003a0002c0003t0006others(1): Show | a0001c0002t0006g0015 a0001c0002t0006g0016 a0001c0002t0006g0017 others(5): Show |
8 | 336 | 0.0238 | 7 | c.148 others(26): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ANKDD1A_chr15_64906902_64963691 | 64953676 | T | TCCTTTTC | intron_variant | MODIFIER | HG00639.hp1 HG01168.hp1 HG01169.hp1 others(4): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0003 | a0001c0002t0006a0001c0004t0003a0002c0003t0006 | a0001c0002t0006g0015 a0001c0002t0006g0016 a0001c0002t0006g0017 others(4): Show |
7 | 336 | 0.0208 | 7 | c.148 others(26): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | chr15 | TogoVar | |||||||
ANKDD1A_chr15_64906902_64963691 | 64953854 | C | CTCTTTTT | intron_variant | MODIFIER | HG00639.hp1 HG01168.hp1 HG01169.hp1 others(4): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0003 | a0001c0002t0006a0001c0004t0003a0002c0003t0006 | a0001c0002t0006g0015 a0001c0002t0006g0016 a0001c0002t0006g0017 others(4): Show |
7 | 247 | 0.0283 | 7 | c.148 others(26): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ANKDD1A_chr15_64906902_64963691 | 64954744 | C | CTTCTTCT | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG01109.hp1 others(38): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0004a0001c0015others(3): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0006others(5): Show | a0001c0002t0002g0042 a0001c0002t0002g0130 a0001c0002t0002g0170 others(38): Show |
41 | 145 | 0.2828 | 7 | c.148 others(26): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |