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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AMDHD1_chr12_95938331_95973720 | 95959959 | A | ATAATTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(323): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(21): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(232): Show |
326 | 402 | 0.8109 | 9 | c.588 others(24): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AMDHD1_chr12_95938331_95973720 | 95961144 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(38): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0011a0001c0004t0002 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0022 others(28): Show |
41 | 119 | 0.3445 | 9 | c.813 others(24): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AMDHD1_chr12_95938331_95973720 | 95964032 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG01071.hp2 others(22): Show |
a0001a0002a0004others(1): Show | a0001c0002a0002c0003a0004c0006others(1): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0006others(4): Show | a0001c0002t0002g0223 a0001c0002t0003g0024 a0001c0002t0003g0048 others(18): Show |
25 | 194 | 0.1289 | 9 | c.938 others(26): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AMDHD1_chr12_95938331_95973720 | 95964928 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(94): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0012a0001c0002t0003others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(56): Show |
97 | 161 | 0.6025 | 9 | c.939 others(24): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AMDHD2_chr16_2515371_2536417 | 2533275 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG02280.hp1 HG02280.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(2): Show | a0001c0001t0001g0002 a0001c0001t0003g0008 a0001c0001t0003g0025 others(4): Show |
14 | 24 | 0.5833 | 9 | c.*37 others(20): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 1859 | chr16 | TogoVar | |||||||
AMER2_chr13_25156679_25177288 | 25174477 | G | GTCATCAT others(2): Show |
upstream_gene_variant | MODIFIER | HG02056.hp1 HG02886.hp1 NA19074.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0039a0003c0003t0024a0003c0003t0025 | a0001c0001t0039g0000 a0003c0003t0024g0000 a0003c0003t0025g0000 |
4 | 288 | 0.0139 | 9 | c.-28 others(20): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2190 | chr13 | TogoVar | |||||||
AMER2_chr13_25156679_25177288 | 25174477 | G | GTCGTCAT others(2): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01175.hp1 others(43): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(16): Show |
46 | 330 | 0.1394 | 9 | c.-28 others(20): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2190 | chr13 | TogoVar | |||||||
AMFR_chr16_56356452_56430545 | 56359469 | T | TAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG01123.hp1 others(89): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0001g0157 a0001c0001t0001g0177 a0001c0001t0001g0237 others(89): Show |
92 | 176 | 0.5227 | 9 | c.*34 others(20): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 1982 | chr16 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38433724 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01255.hp2 HG01358.hp1 others(3): Show |
a0001 | a0001c0001a0001c0007a0001c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0048 a0001c0001t0003g0039 a0001c0001t0004g0114 others(3): Show |
6 | 21 | 0.2857 | 9 | c.113 others(28): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 12/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38472265 | C | CAAGGTTG others(2): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02970.hp1 HG03130.hp2 others(1): Show |
a0003 | a0003c0006 | a0003c0006t0004 | a0003c0006t0004g0004 a0003c0006t0004g0007 a0003c0006t0004g0011 others(1): Show |
4 | 286 | 0.0140 | 9 | c.590 others(26): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 7/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38571268 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03225.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0096 a0001c0001t0003g0097 a0001c0001t0003g0148 |
3 | 286 | 0.0105 | 9 | c.70- others(26): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38571280 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02630.hp1 HG02970.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0096 a0001c0001t0003g0063 a0001c0001t0003g0097 others(5): Show |
8 | 281 | 0.0285 | 9 | c.70- others(26): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38627387 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01099.hp2 HG02735.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(4): Show |
7 | 63 | 0.1111 | 9 | c.69+ others(24): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | |||||||
AMZ1_chr7_2683202_2724683 | 2691730 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02129.hp1 HG02135.hp2 others(12): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0062a0001c0002t0008others(9): Show | a0001c0001t0001g0175 a0001c0001t0062g0176 a0001c0002t0008g0177 others(12): Show |
15 | 112 | 0.1339 | 9 | c.-21 others(28): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AMZ2_chr17_68243043_68262155 | 68246195 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp2 others(29): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0003a0001c0002t0001a0001c0002t0010others(2): Show | a0001c0001t0003g0004 a0001c0002t0001g0001 a0001c0002t0001g0037 others(3): Show |
32 | 189 | 0.1693 | 9 | c.-25 others(20): Show |
AMZ2 | ENSG00000196704.14 | transcript | ENST00000359904.8 | protein_coding | 1847 | chr17 | TogoVar | |||||||
ANAPC10_chr4_144989576_145103196 | 145026988 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01928.hp1 HG02056.hp1 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0069 a0001c0001t0001g0136 a0001c0001t0009g0085 |
3 | 284 | 0.0106 | 9 | c.328 others(28): Show |
ANAPC10 | ENSG00000164162.14 | transcript | ENST00000507656.6 | protein_coding | 4/4 | chr4 | TogoVar | |||||||
ANAPC16_chr10_72211012_72240860 | 72220325 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02895.hp1 HG02970.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0014a0001c0002t0004others(3): Show | a0001c0001t0003g0105 a0001c0001t0014g0058 a0001c0002t0004g0017 others(5): Show |
9 | 253 | 0.0356 | 9 | c.-27 others(26): Show |
ANAPC16 | ENSG00000166295.9 | transcript | ENST00000299381.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ANAPC1_chr2_111762640_111889193 | 111764893 | T | TATATATA others(2): Show |
downstream_gene_variant | MODIFIER | HG01168.hp2 HG01346.hp2 HG01943.hp2 others(8): Show |
a0001a0013 | a0001c0004a0001c0006a0001c0007others(2): Show | a0001c0004t0003a0001c0006t0005a0001c0007t0002others(2): Show | a0001c0004t0003g0164 a0001c0004t0003g0166 a0001c0004t0003g0179 others(8): Show |
11 | 323 | 0.0341 | 9 | c.*43 others(20): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 2746 | chr2 | TogoVar | |||||||
ANAPC1_chr2_111762640_111889193 | 111769674 | G | GCTGAGAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp2 others(58): Show |
a0001 | a0001c0002a0001c0003a0001c0014others(3): Show | a0001c0002t0002a0001c0003t0004a0001c0003t0019others(4): Show | a0001c0002t0002g0001 a0001c0002t0002g0150 a0001c0002t0002g0151 others(56): Show |
61 | 368 | 0.1658 | 9 | c.572 others(26): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 47/47 | chr2 | TogoVar | |||||||
ANAPC1_chr2_111762640_111889193 | 111833681 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02257.hp1 others(15): Show |
a0001a0005a0007 | a0001c0001a0001c0006a0001c0009others(2): Show | a0001c0001t0003a0001c0006t0005a0001c0009t0003others(2): Show | a0001c0001t0003g0339 a0001c0001t0003g0340 a0001c0001t0003g0341 others(15): Show |
18 | 122 | 0.1475 | 9 | c.238 others(26): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 19/47 | chr2 | TogoVar | |||||||
ANAPC1_chr2_111762640_111889193 | 111864462 | A | ATATATAC others(2): Show |
intron_variant | MODIFIER | HG01361.hp1 HG03688.hp1 NA18947.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0003a0001c0004t0017 | a0001c0004t0003g0159 a0001c0004t0003g0160 a0001c0004t0003g0249 others(1): Show |
4 | 174 | 0.0230 | 9 | c.831 others(24): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 8/47 | chr2 | TogoVar | |||||||
ANAPC5_chr12_121303245_121357411 | 121352707 | G | GGTTGTTG others(2): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG02015.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0115 a0001c0001t0002g0236 a0001c0002t0001g0094 others(1): Show |
4 | 266 | 0.0150 | 9 | c.-37 others(18): Show |
ANAPC5 | ENSG00000089053.13 | transcript | ENST00000261819.8 | protein_coding | 297 | chr12 | TogoVar | |||||||
ANAPC5_chr12_121303245_121357411 | 121352718 | T | TTGGTGGT others(2): Show |
upstream_gene_variant | MODIFIER | HG02015.hp2 HG06807.hp2 NA19030.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0001 | a0001c0001t0001g0115 a0001c0001t0002g0235 a0001c0004t0001g0097 |
3 | 127 | 0.0236 | 9 | c.-38 others(18): Show |
ANAPC5 | ENSG00000089053.13 | transcript | ENST00000261819.8 | protein_coding | 308 | chr12 | TogoVar | |||||||
ANAPC7_chr12_110367900_110408708 | 110376568 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01928.hp1 HG01934.hp2 others(14): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0058 a0001c0001t0001g0064 others(11): Show |
17 | 73 | 0.2329 | 9 | c.135 others(26): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 9/10 | chr12 | TogoVar | |||||||
ANAPC7_chr12_110367900_110408708 | 110382455 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01928.hp1 NA18747.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 a0001c0001t0001g0064 a0001c0001t0001g0134 |
3 | 247 | 0.0121 | 9 | c.935 others(24): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 7/10 | chr12 | TogoVar | |||||||
ANGEL2_chr1_212987182_213020867 | 212996636 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | NA18747.hp2 NA18981.hp2 NA18986.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 a0001c0001t0002g0164 |
4 | 288 | 0.0139 | 9 | c.148 others(26): Show |
ANGEL2 | ENSG00000174606.14 | transcript | ENST00000366962.8 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
ANGEL2_chr1_212987182_213020867 | 213018750 | A | AAATAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 HG02970.hp2 HG03195.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0009a0001c0003t0006 | a0001c0001t0001g0079 a0001c0001t0001g0087 a0001c0001t0009g0110 others(2): Show |
5 | 263 | 0.0190 | 9 | c.-30 others(20): Show |
ANGEL2 | ENSG00000174606.14 | transcript | ENST00000366962.8 | protein_coding | 2884 | chr1 | TogoVar | |||||||
ANGPT1_chr8_107244482_107502918 | 107434616 | A | AAACTTCA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(98): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 others(98): Show |
101 | 290 | 0.3483 | 9 | c.297 others(28): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
ANGPT4_chr20_864900_921334 | 905680 | C | CAAGACAT others(2): Show |
intron_variant | MODIFIER | HG02818.hp1 HG02976.hp1 HG03098.hp1 others(2): Show |
a0001a0003 | a0001c0003a0001c0008a0003c0011 | a0001c0003t0003a0001c0008t0002a0003c0011t0003 | a0001c0003t0003g0030 a0001c0003t0003g0119 a0001c0003t0003g0218 others(2): Show |
5 | 430 | 0.0116 | 9 | c.309 others(28): Show |
ANGPT4 | ENSG00000101280.8 | transcript | ENST00000381922.5 | protein_coding | 1/8 | chr20 | TogoVar | |||||||
ANGPTL1_chr1_178844535_178876077 | 178856394 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00642.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0049 a0001c0001t0001g0052 others(15): Show |
25 | 146 | 0.1712 | 9 | c.824 others(26): Show |
ANGPTL1 | ENSG00000116194.13 | transcript | ENST00000234816.7 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
ANGPTL4_chr19_8359155_8379370 | 8368024 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02615.hp1 HG02630.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017 a0002c0002t0001g0107 a0002c0002t0001g0108 |
6 | 261 | 0.0230 | 9 | c.548 others(26): Show |
ANGPTL4 | ENSG00000167772.12 | transcript | ENST00000301455.7 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ANGPTL6_chr19_10087338_10107678 | 10088953 | T | TATAATAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 HG01928.hp1 HG01993.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(5): Show |
9 | 193 | 0.0466 | 9 | c.*36 others(20): Show |
ANGPTL6 | ENSG00000130812.11 | transcript | ENST00000253109.5 | protein_coding | 3384 | chr19 | TogoVar | |||||||
ANK2_chr4_113044653_113388736 | 113296019 | T | TAACAATA others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02258.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0007others(4): Show | a0001c0001t0001a0001c0004t0001a0001c0007t0001others(4): Show | a0001c0001t0001g0055 a0001c0001t0001g0178 a0001c0004t0001g0003 others(10): Show |
13 | 176 | 0.0739 | 9 | c.247 others(28): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 22/45 | chr4 | TogoVar | |||||||
ANK3_chr10_60021298_60394875 | 60029875 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01167.hp1 HG02258.hp1 others(6): Show |
a0001a0003a0011 | a0001c0001a0001c0015a0001c0025others(3): Show | a0001c0001t0004a0001c0001t0033a0001c0015t0004others(4): Show | a0001c0001t0004g0112 a0001c0001t0004g0154 a0001c0001t0033g0018 others(6): Show |
9 | 64 | 0.1406 | 9 | c.*20 others(22): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 43/43 | chr10 | TogoVar | |||||||
ANK3_chr10_60021298_60394875 | 60064668 | C | CACAACAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG01934.hp2 others(25): Show |
a0001a0003a0012others(2): Show | a0001c0001a0001c0007a0001c0008others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0171 others(25): Show |
28 | 183 | 0.1530 | 9 | c.123 others(28): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 38/43 | chr10 | TogoVar | |||||||
ANK3_chr10_60021298_60394875 | 60064672 | G | GCAACAAC others(2): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02486.hp2 NA18906.hp1 others(3): Show |
a0001a0006 | a0001c0001a0001c0047a0006c0020 | a0001c0001t0001a0001c0001t0034a0001c0001t0041others(2): Show | a0001c0001t0001g0106 a0001c0001t0001g0178 a0001c0001t0034g0058 others(3): Show |
6 | 51 | 0.1176 | 9 | c.123 others(28): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 38/43 | chr10 | TogoVar | |||||||
ANK3_chr10_60021298_60394875 | 60100234 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01123.hp2 HG02135.hp2 others(7): Show |
a0001a0007a0008others(1): Show | a0001c0001a0001c0025a0001c0068others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0025t0004others(7): Show | a0001c0001t0001g0171 a0001c0001t0004g0085 a0001c0025t0004g0022 others(7): Show |
10 | 19 | 0.5263 | 9 | c.332 others(28): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 28/43 | chr10 | TogoVar | |||||||
ANK3_chr10_60021298_60394875 | 60103235 | C | CCACACTG others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01070.hp1 HG02135.hp2 others(14): Show |
a0001a0004a0006others(3): Show | a0001c0001a0001c0002a0001c0011others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0133 a0001c0001t0001g0171 a0001c0001t0002g0043 others(14): Show |
17 | 190 | 0.0895 | 9 | c.332 others(28): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 28/43 | chr10 | TogoVar | |||||||
ANK3_chr10_60021298_60394875 | 60180594 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01106.hp1 HG01123.hp1 others(21): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0028others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(16): Show | a0001c0001t0001g0051 a0001c0001t0001g0067 a0001c0001t0001g0123 others(21): Show |
24 | 97 | 0.2474 | 9 | c.218 others(26): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 18/43 | chr10 | TogoVar | |||||||
ANK3_chr10_60021298_60394875 | 60186347 | C | CTCTCTTT others(2): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02486.hp1 HG02809.hp1 others(8): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0016a0001c0041others(6): Show | a0001c0001t0044a0001c0016t0002a0001c0016t0006others(8): Show | a0001c0001t0044g0189 a0001c0016t0002g0182 a0001c0016t0006g0011 others(8): Show |
11 | 145 | 0.0759 | 9 | c.208 others(26): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 17/43 | chr10 | TogoVar | |||||||
ANK3_chr10_60021298_60394875 | 60313928 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02559.hp1 HG02559.hp2 others(10): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0028a0001c0034others(7): Show | a0001c0001t0006a0001c0001t0007a0001c0001t0008others(10): Show | a0001c0001t0006g0003 a0001c0001t0007g0180 a0001c0001t0008g0047 others(10): Show |
13 | 136 | 0.0956 | 9 | c.115 others(28): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 1/43 | chr10 | TogoVar | |||||||
ANK3_chr10_60021298_60394875 | 60387452 | G | GTATATGA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(112): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0002a0001c0005others(60): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(91): Show | a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0119 others(112): Show |
115 | 189 | 0.6085 | 9 | c.114 others(26): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 1/43 | chr10 | TogoVar | |||||||
ANKAR_chr2_189669670_189751647 | 189736499 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02145.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 others(5): Show |
8 | 41 | 0.1951 | 9 | c.342 others(28): Show |
ANKAR | ENSG00000151687.15 | transcript | ENST00000684021.1 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANKAR_chr2_189669670_189751647 | 189744990 | T | TCTACTAC others(2): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01123.hp1 HG01167.hp1 others(24): Show |
a0001a0008a0009others(1): Show | a0001c0001a0008c0016a0009c0013others(1): Show | a0001c0001t0001a0008c0016t0001a0009c0013t0001others(1): Show | a0001c0001t0001g0030 a0001c0001t0001g0094 a0001c0001t0001g0100 others(24): Show |
27 | 78 | 0.3462 | 9 | c.405 others(26): Show |
ANKAR | ENSG00000151687.15 | transcript | ENST00000684021.1 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANKAR_chr2_189669670_189751647 | 189745027 | C | CTAATAAT others(2): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG00735.hp2 others(19): Show |
a0001a0007a0014 | a0001c0001a0007c0011a0014c0022 | a0001c0001t0001a0001c0001t0002a0007c0011t0001others(1): Show | a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0093 others(19): Show |
22 | 40 | 0.5500 | 9 | c.405 others(26): Show |
ANKAR | ENSG00000151687.15 | transcript | ENST00000684021.1 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANKDD1B_chr5_75606453_75676846 | 75637240 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG01069.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0003a0003c0003t0003others(2): Show | a0001c0001t0001g0124 a0001c0001t0001g0200 a0002c0002t0003g0171 others(9): Show |
13 | 77 | 0.1688 | 9 | c.798 others(26): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKFN1_chr17_56148475_56522016 | 56280008 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02895.hp2 HG03225.hp2 others(1): Show |
a0001a0003a0004 | a0001c0001a0001c0010a0003c0006others(1): Show | a0001c0001t0028a0001c0010t0015a0003c0006t0009others(1): Show | a0001c0001t0028g0060 a0001c0010t0015g0021 a0003c0006t0009g0059 others(1): Show |
4 | 88 | 0.0455 | 9 | c.54- others(26): Show |
ANKFN1 | ENSG00000153930.13 | transcript | ENST00000682825.1 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ANKFY1_chr17_4158821_4268979 | 4265205 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 HG02451.hp1 HG02922.hp1 others(4): Show |
a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0136 a0001c0004t0006g0137 a0001c0004t0006g0138 others(4): Show |
7 | 138 | 0.0507 | 9 | c.-12 others(20): Show |
ANKFY1 | ENSG00000185722.18 | transcript | ENST00000341657.9 | protein_coding | 1227 | chr17 | TogoVar | |||||||
ANKHD1_chr5_140396833_140544849 | 140462724 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00733.hp1 HG01515.hp1 others(14): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0002c0002t0001a0004c0005t0001 | a0001c0001t0001g0024 a0001c0001t0001g0110 a0001c0001t0001g0131 others(14): Show |
17 | 124 | 0.1371 | 9 | c.167 others(28): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 9/33 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ANKRD10_chr13_110873540_110920069 | 110892416 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02165.hp1 HG02280.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0002a0002c0002t0002 | a0001c0001t0001g0173 a0001c0003t0002g0156 a0001c0003t0002g0158 others(6): Show |
10 | 15 | 0.6667 | 9 | c.691 others(24): Show |
ANKRD10 | ENSG00000088448.14 | transcript | ENST00000267339.6 | protein_coding | 4/5 | chr13 | TogoVar |