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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALX4_chr11_44255440_44315139 | 44297722 | TAATAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(342): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(122): Show | a0001c0001t0001g0004 a0001c0001t0001g0215 a0001c0001t0001g0216 others(336): Show |
345 | 386 | 0.8938 | -5 | c.466 others(24): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 1/3 | chr11 | TogoVar | |||||||
ALYREF_chr17_81882835_81896586 | 81882891 | TTAAAA | T | downstream_gene_variant | MODIFIER | HG03491.hp2 HG03492.hp1 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 320 | 0.0094 | -5 | c.*52 others(16): Show |
ALYREF | ENSG00000183684.8 | transcript | ENST00000505490.3 | protein_coding | 4943 | chr17 | TogoVar | |||||||
AMACR_chr5_33981165_34013050 | 34012740 | ATGTTT | A | upstream_gene_variant | MODIFIER | HG01071.hp1 HG01928.hp1 HG02293.hp1 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0005 | 3 | 436 | 0.0069 | -5 | c.-47 others(16): Show |
AMACR | ENSG00000242110.9 | transcript | ENST00000335606.11 | protein_coding | 4691 | chr5 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46439360 | TAGAAC | T | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG02818.hp2 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004 | a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0001g0006 others(5): Show |
8 | 158 | 0.0506 | -5 | c.263 others(24): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 12/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46552368 | CAAAAA | C | intron_variant | MODIFIER | HG00621.hp1 HG01884.hp1 HG02280.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0003t0001 | a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0101 others(11): Show |
14 | 21 | 0.6667 | -5 | c.-12 others(24): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46590017 | TCAAAA | T | intron_variant | MODIFIER | HG00673.hp2 NA18747.hp2 NA18942.hp1 others(2): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0001 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 others(2): Show |
5 | 158 | 0.0316 | -5 | c.-12 others(24): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | |||||||
AMD1_chr6_110869785_110900713 | 110870699 | GTTCCT | G | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG02559.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0118 a0001c0001t0004g0019 a0001c0001t0004g0046 |
7 | 392 | 0.0179 | -5 | c.-44 others(16): Show |
AMD1 | ENSG00000123505.19 | transcript | ENST00000368885.8 | protein_coding | 4085 | chr6 | TogoVar | |||||||
AMD1_chr6_110869785_110900713 | 110895450 | TTTTTG | T | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(198): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0007 others(60): Show |
201 | 389 | 0.5167 | -5 | c.*18 others(16): Show |
AMD1 | ENSG00000123505.19 | transcript | ENST00000368885.8 | protein_coding | 9/9 | 1858 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AMD1_chr6_110869785_110900713 | 110897424 | CATCTT | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(95): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0012a0002c0002t0002 | a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0007 others(20): Show |
98 | 392 | 0.2500 | -5 | c.*38 others(16): Show |
AMD1 | ENSG00000123505.19 | transcript | ENST00000368885.8 | protein_coding | 1712 | chr6 | TogoVar | |||||||
AMDHD1_chr12_95938331_95973720 | 95940887 | CAAACA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(194): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(11): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(140): Show |
197 | 402 | 0.4901 | -5 | c.-25 others(16): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 2443 | chr12 | TogoVar | |||||||
AMDHD2_chr16_2515371_2536417 | 2533430 | ATTTTT | A | downstream_gene_variant | MODIFIER | HG00423.hp1 HG02280.hp2 HG02486.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0011 a0001c0001t0001g0072 a0001c0002t0002g0006 others(1): Show |
10 | 22 | 0.4545 | -5 | c.*38 others(16): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 2014 | chr16 | TogoVar | |||||||
AMIGO1_chr1_109499178_109514727 | 109511254 | AAAAAG | A | upstream_gene_variant | MODIFIER | HG01167.hp1 HG02723.hp1 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0015 | a0001c0001t0001g0001 a0001c0001t0007g0007 a0001c0001t0015g0017 |
6 | 378 | 0.0159 | -5 | c.-19 others(16): Show |
AMIGO1 | ENSG00000181754.7 | transcript | ENST00000369864.5 | protein_coding | 1528 | chr1 | TogoVar | |||||||
AMMECR1L_chr2_127856630_127890956 | 127862865 | GATAAA | G | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00621.hp1 HG00673.hp1 others(72): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0016others(6): Show | a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0008 others(33): Show |
75 | 330 | 0.2273 | -5 | c.*22 others(16): Show |
AMMECR1L | ENSG00000144233.12 | transcript | ENST00000272647.10 | protein_coding | 8/8 | 2224 | chr2 | TogoVar | ||||||
AMMECR1_chrX_110189186_110323085 | 110248390 | AAAAAG | A | intron_variant | MODIFIER | HG01106.hp1 HG01109.hp1 HG01243.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 others(9): Show |
13 | 152 | 0.0855 | -5 | c.584 others(24): Show |
AMMECR1 | ENSG00000101935.13 | transcript | ENST00000262844.10 | protein_coding | 2/5 | chrX | TogoVar | |||||||
AMMECR1_chrX_110189186_110323085 | 110261351 | TTTTTG | T | intron_variant | MODIFIER | NA18959.hp1 NA18962.hp1 NA18966.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0039 a0001c0001t0001g0048 |
6 | 153 | 0.0392 | -5 | c.584 others(22): Show |
AMMECR1 | ENSG00000101935.13 | transcript | ENST00000262844.10 | protein_coding | 2/5 | chrX | TogoVar | |||||||
AMN1_chr12_31666142_31734021 | 31672811 | AGGTAC | A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00438.hp2 others(67): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0038 others(62): Show |
70 | 430 | 0.1628 | -5 | c.704 others(20): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 6/6 | chr12 | TogoVar | |||||||
AMN1_chr12_31666142_31734021 | 31680192 | ATTTTC | A | intron_variant | MODIFIER | HG02559.hp2 HG02615.hp2 HG02895.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0007 | a0001c0002t0001g0273 a0001c0002t0001g0321 a0001c0002t0007g0274 others(1): Show |
4 | 426 | 0.0094 | -5 | c.704 others(22): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 6/6 | chr12 | TogoVar | |||||||
AMN1_chr12_31666142_31734021 | 31706989 | TAAGAA | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp2 others(71): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0115 a0001c0001t0002g0007 a0001c0001t0002g0013 others(65): Show |
74 | 430 | 0.1721 | -5 | c.171 others(22): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 2/6 | chr12 | TogoVar | |||||||
AMN_chr14_102917663_102935842 | 102932901 | CGGGGT | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG01109.hp1 others(40): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0021 others(28): Show |
43 | 450 | 0.0956 | -5 | c.*22 others(16): Show |
AMN | ENSG00000166126.11 | transcript | ENST00000299155.10 | protein_coding | 2060 | chr14 | TogoVar | |||||||
AMOTL1_chr11_94763356_94881748 | 94857571 | TAAAAG | T | intron_variant | MODIFIER | HG02572.hp1 HG02970.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0042 | a0001c0001t0022g0008 a0001c0001t0022g0152 a0001c0001t0042g0008 |
3 | 244 | 0.0123 | -5 | c.194 others(24): Show |
AMOTL1 | ENSG00000166025.18 | transcript | ENST00000433060.3 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AMOT_chrX_112769877_112845831 | 112806353 | TAAAAC | T | intron_variant | MODIFIER | HG00408.hp1 HG00642.hp1 HG00738.hp1 others(47): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0108 a0001c0001t0002g0237 a0001c0001t0004g0021 others(43): Show |
50 | 268 | 0.1866 | -5 | c.163 others(24): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 7/13 | chrX | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38392377 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(45): Show |
a0001 | a0001c0001a0001c0019 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0056 a0001c0001t0001g0065 a0001c0001t0001g0091 others(45): Show |
48 | 49 | 0.9796 | -5 | c.160 others(22): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 18/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38398191 | AAAAAC | A | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00597.hp2 others(20): Show |
a0002a0008 | a0002c0004a0002c0008a0008c0014 | a0002c0004t0005a0002c0008t0002a0002c0008t0003others(1): Show | a0002c0004t0005g0035 a0002c0004t0005g0051 a0002c0004t0005g0076 others(20): Show |
23 | 286 | 0.0804 | -5 | c.139 others(24): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38469153 | CAAAAA | C | intron_variant | MODIFIER | HG01433.hp2 HG01515.hp2 HG01517.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0040 a0001c0001t0001g0175 a0001c0001t0001g0176 others(7): Show |
10 | 150 | 0.0667 | -5 | c.591 others(22): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 7/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38570980 | TATTCA | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00597.hp2 others(31): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0124 a0001c0001t0001g0192 a0001c0001t0001g0193 others(31): Show |
34 | 286 | 0.1189 | -5 | c.70- others(22): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38610333 | AAAAAG | A | intron_variant | MODIFIER | HG01192.hp1 HG01255.hp1 HG01515.hp2 others(44): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(6): Show | a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0196 others(44): Show |
47 | 258 | 0.1822 | -5 | c.69+ others(22): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | |||||||
AMTN_chr4_70513569_70537743 | 70516300 | AAATAT | A | upstream_gene_variant | MODIFIER | HG01346.hp2 HG02004.hp1 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0020 a0001c0001t0003g0028 a0001c0001t0003g0091 others(2): Show |
6 | 445 | 0.0135 | -5 | c.-23 others(16): Show |
AMTN | ENSG00000187689.10 | transcript | ENST00000339336.9 | protein_coding | 2268 | chr4 | TogoVar | |||||||
AMTN_chr4_70513569_70537743 | 70521640 | CTTTTT | C | intron_variant | MODIFIER | HG02074.hp2 HG02109.hp2 HG02145.hp1 others(12): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0003a0005c0006t0001 | a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0038 others(4): Show |
15 | 24 | 0.6250 | -5 | c.55- others(20): Show |
AMTN | ENSG00000187689.10 | transcript | ENST00000339336.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
AMZ1_chr7_2683202_2724683 | 2704588 | CTTTTT | C | intron_variant | MODIFIER | HG01192.hp2 HG02257.hp2 HG02559.hp1 others(11): Show |
a0001a0002a0007others(2): Show | a0001c0009a0002c0010a0007c0049others(2): Show | a0001c0009t0026a0001c0009t0147a0002c0010t0003others(8): Show | a0001c0009t0026g0143 a0001c0009t0026g0152 a0001c0009t0026g0153 others(11): Show |
14 | 297 | 0.0471 | -5 | c.472 others(22): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AMZ1_chr7_2683202_2724683 | 2707818 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00544.hp1 others(145): Show |
a0001a0002a0004others(8): Show | a0001c0002a0001c0004a0001c0008others(19): Show | a0001c0002t0003a0001c0002t0004a0001c0002t0005others(70): Show | a0001c0002t0003g0014 a0001c0002t0003g0094 a0001c0002t0004g0001 others(136): Show |
148 | 342 | 0.4327 | -5 | c.473 others(20): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AMZ1_chr7_2683202_2724683 | 2723004 | TAAAAC | T | downstream_gene_variant | MODIFIER | HG00280.hp2 HG01261.hp2 HG02148.hp2 others(1): Show |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0002a0002c0003t0018 | a0001c0004t0002g0201 a0001c0004t0002g0299 a0001c0004t0002g0392 others(1): Show |
4 | 436 | 0.0092 | -5 | c.*10 others(18): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 3322 | chr7 | TogoVar | |||||||
AMZ2_chr17_68243043_68262155 | 68247336 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(154): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0021 others(19): Show |
157 | 359 | 0.4373 | -5 | c.-13 others(16): Show |
AMZ2 | ENSG00000196704.14 | transcript | ENST00000359904.8 | protein_coding | 706 | chr17 | TogoVar | |||||||
ANAPC10_chr4_144989576_145103196 | 145011336 | AAAAAT | A | intron_variant | MODIFIER | HG03017.hp2 NA18939.hp2 NA18943.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 a0001c0001t0001g0193 a0001c0001t0001g0210 others(2): Show |
5 | 147 | 0.0340 | -5 | c.328 others(24): Show |
ANAPC10 | ENSG00000164162.14 | transcript | ENST00000507656.6 | protein_coding | 4/4 | chr4 | TogoVar | |||||||
ANAPC10_chr4_144989576_145103196 | 145026987 | ATTTTT | A | intron_variant | MODIFIER | HG01256.hp1 HG01346.hp1 HG01943.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0002 a0001c0001t0001g0046 a0001c0001t0001g0269 others(5): Show |
8 | 207 | 0.0386 | -5 | c.328 others(24): Show |
ANAPC10 | ENSG00000164162.14 | transcript | ENST00000507656.6 | protein_coding | 4/4 | chr4 | TogoVar | |||||||
ANAPC16_chr10_72211012_72240860 | 72239415 | CAAAAG | C | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02559.hp2 HG03041.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0115 others(1): Show |
4 | 350 | 0.0114 | -5 | c.*63 others(16): Show |
ANAPC16 | ENSG00000166295.9 | transcript | ENST00000299381.5 | protein_coding | 3556 | chr10 | TogoVar | |||||||
ANAPC1_chr2_111762640_111889193 | 111823000 | CTTTTT | C | intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG03130.hp1 others(5): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0002a0001c0008t0008 | a0001c0002t0002g0199 a0001c0002t0002g0224 a0001c0008t0008g0004 others(4): Show |
8 | 101 | 0.0792 | -5 | c.281 others(22): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 24/47 | chr2 | TogoVar | |||||||
ANAPC1_chr2_111762640_111889193 | 111860918 | TTCTAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00733.hp2 others(41): Show |
a0001a0013 | a0001c0004a0001c0007a0001c0011others(2): Show | a0001c0004t0003a0001c0004t0017a0001c0007t0002others(3): Show | a0001c0004t0003g0153 a0001c0004t0003g0154 a0001c0004t0003g0155 others(41): Show |
44 | 368 | 0.1196 | -5 | c.126 others(24): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 10/47 | chr2 | TogoVar | |||||||
ANAPC1_chr2_111762640_111889193 | 111873819 | ATAAAT | A | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00609.hp2 others(45): Show |
a0001a0009 | a0001c0003a0001c0007a0009c0030 | a0001c0003t0004a0001c0003t0018a0001c0003t0019others(2): Show | a0001c0003t0004g0262 a0001c0003t0004g0263 a0001c0003t0004g0264 others(45): Show |
48 | 368 | 0.1304 | -5 | c.376 others(20): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 3/47 | chr2 | TogoVar | |||||||
ANAPC7_chr12_110367900_110408708 | 110382462 | ATATAT | A | intron_variant | MODIFIER | HG02622.hp2 NA18522.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 a0001c0001t0001g0153 a0001c0001t0001g0186 |
3 | 290 | 0.0103 | -5 | c.935 others(20): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 7/10 | chr12 | TogoVar | |||||||
ANAPC7_chr12_110367900_110408708 | 110392090 | CACAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp2 HG01069.hp1 others(25): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0241 a0001c0001t0001g0242 others(23): Show |
28 | 275 | 0.1018 | -5 | c.408 others(22): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 3/10 | chr12 | TogoVar | |||||||
ANGEL1_chr14_76781009_76817882 | 76786148 | CTTTCT | C | 3_prime_UTR_variant | MODIFIER | NA18940.hp2 NA18969.hp2 NA18972.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0022 | a0001c0001t0011g0032 a0001c0001t0011g0126 a0001c0001t0011g0127 others(2): Show |
6 | 392 | 0.0153 | -5 | c.*30 others(16): Show |
ANGEL1 | ENSG00000013523.11 | transcript | ENST00000251089.8 | protein_coding | 10/10 | 3075 | chr14 | TogoVar | ||||||
ANGEL2_chr1_212987182_213020867 | 212996641 | ATATAT | A | intron_variant | MODIFIER | NA18956.hp1 NA18960.hp2 NA19002.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0012a0003c0004t0005 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0101 others(2): Show |
7 | 356 | 0.0197 | -5 | c.148 others(22): Show |
ANGEL2 | ENSG00000174606.14 | transcript | ENST00000366962.8 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
ANGPT1_chr8_107244482_107502918 | 107263354 | CAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00621.hp1 others(34): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0015 a0001c0001t0001g0030 a0001c0001t0001g0047 others(34): Show |
37 | 82 | 0.4512 | -5 | c.133 others(22): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 8/8 | chr8 | TogoVar | |||||||
ANGPT1_chr8_107244482_107502918 | 107266711 | CTAATA | C | intron_variant | MODIFIER | HG00642.hp2 HG01071.hp1 HG01081.hp2 others(15): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(1): Show | a0001c0001t0001g0030 a0001c0001t0001g0047 a0001c0001t0001g0129 others(15): Show |
18 | 290 | 0.0621 | -5 | c.120 others(24): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 7/8 | chr8 | TogoVar | |||||||
ANGPT1_chr8_107244482_107502918 | 107371573 | CTTTTT | C | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00597.hp1 others(97): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0024 others(97): Show |
100 | 120 | 0.8333 | -5 | c.298 others(24): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
ANGPT1_chr8_107244482_107502918 | 107426098 | ACATGC | A | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00597.hp2 others(56): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0050 others(55): Show |
59 | 290 | 0.2034 | -5 | c.297 others(24): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
ANGPT2_chr8_6494632_6568245 | 6505246 | ATTCTT | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00673.hp2 others(53): Show |
a0001a0002a0008 | a0001c0003a0001c0004a0001c0005others(9): Show | a0001c0003t0037a0001c0004t0004a0001c0004t0010others(23): Show | a0001c0003t0037g0136 a0001c0004t0004g0044 a0001c0004t0004g0049 others(53): Show |
56 | 334 | 0.1677 | -5 | c.132 others(24): Show |
ANGPT2 | ENSG00000091879.14 | transcript | ENST00000629816.3 | protein_coding | 8/8 | chr8 | TogoVar | |||||||
ANGPT2_chr8_6494632_6568245 | 6505257 | ATGTTT | A | intron_variant | MODIFIER | HG02258.hp1 HG02258.hp2 HG02615.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0007others(1): Show | a0001c0002t0003a0001c0003t0040a0001c0007t0078others(1): Show | a0001c0002t0003g0187 a0001c0003t0040g0230 a0001c0007t0078g0334 others(1): Show |
4 | 334 | 0.0120 | -5 | c.132 others(24): Show |
ANGPT2 | ENSG00000091879.14 | transcript | ENST00000629816.3 | protein_coding | 8/8 | chr8 | TogoVar | |||||||
ANGPT2_chr8_6494632_6568245 | 6505490 | ATTCTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0002a0001c0002t0009a0001c0005t0002others(12): Show | a0001c0001t0002g0197 a0001c0002t0009g0003 a0001c0005t0002g0054 others(34): Show |
37 | 331 | 0.1118 | -5 | c.132 others(24): Show |
ANGPT2 | ENSG00000091879.14 | transcript | ENST00000629816.3 | protein_coding | 8/8 | chr8 | TogoVar | |||||||
ANGPT2_chr8_6494632_6568245 | 6563976 | CTTTTT | C | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00597.hp2 others(32): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0008a0001c0001t0009a0001c0002t0005others(18): Show | a0001c0001t0008g0002 a0001c0001t0008g0004 a0001c0001t0008g0012 others(32): Show |
35 | 95 | 0.3684 | -5 | c.-10 others(16): Show |
ANGPT2 | ENSG00000091879.14 | transcript | ENST00000629816.3 | protein_coding | 732 | chr8 | TogoVar |