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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALYREF_chr17_81882835_81896586 | 81890723 | T | TTGGACAC others(5): Show |
conservative_inframe_insertion | MODERATE | HG02895.hp2 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0032 | 1 | 320 | 0.0031 | 12 | c.344 others(19): Show |
p.Ser others(25): Show |
ALYREF | ENSG00000183684.8 | transcript | ENST00000505490.3 | protein_coding | 2/6 | 361/1097 | 355/795 | 119/264 | chr17 | TogoVar | |||
AMACR_chr5_33981165_34013050 | 33991726 | T | TTTATTAT others(5): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00621.hp2 others(45): Show |
a0001a0003a0004others(4): Show | a0001c0001a0003c0003a0004c0004others(4): Show | a0001c0001t0013a0001c0001t0021a0001c0001t0038others(14): Show | a0001c0001t0013g0175 a0001c0001t0021g0109 a0001c0001t0038g0173 others(22): Show |
48 | 109 | 0.4404 | 12 | c.740 others(29): Show |
AMACR | ENSG00000242110.9 | transcript | ENST00000335606.11 | protein_coding | 4/4 | chr5 | TogoVar | |||||||
AMBN_chr4_70587256_70612288 | 70588670 | A | ACTCCGTC others(5): Show |
upstream_gene_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 469 | 0.0021 | 12 | c.-36 others(23): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3585 | chr4 | TogoVar | |||||||
AMBN_chr4_70587256_70612288 | 70588675 | G | GTCTCTCT others(5): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 HG00673.hp1 NA18954.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0219 a0001c0001t0002g0224 a0001c0001t0010g0010 |
3 | 400 | 0.0075 | 12 | c.-36 others(23): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3580 | chr4 | TogoVar | |||||||
AMBN_chr4_70587256_70612288 | 70588707 | C | CTCTATAT others(5): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG01496.hp1 HG03710.hp2 others(3): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0162 a0001c0003t0001g0008 others(2): Show |
6 | 133 | 0.0451 | 12 | c.-36 others(23): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3548 | chr4 | TogoVar | |||||||
AMBN_chr4_70587256_70612288 | 70588707 | C | CTCTCTAT others(5): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG00621.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0031 others(10): Show |
18 | 145 | 0.1241 | 12 | c.-36 others(23): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3548 | chr4 | TogoVar | |||||||
AMBN_chr4_70587256_70612288 | 70588707 | C | CTCTCTCT others(5): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00735.hp2 HG01358.hp2 others(24): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0034 others(18): Show |
27 | 154 | 0.1753 | 12 | c.-36 others(23): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3548 | chr4 | TogoVar | |||||||
AMBN_chr4_70587256_70612288 | 70588707 | C | CTCTCTCT others(5): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00642.hp2 others(17): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(4): Show | a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0015 others(12): Show |
20 | 147 | 0.1361 | 12 | c.-36 others(23): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3548 | chr4 | TogoVar | |||||||
AMBN_chr4_70587256_70612288 | 70588707 | C | CTCTCTCT others(5): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG02015.hp2 HG03490.hp2 others(10): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0009others(1): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0021 others(8): Show |
13 | 140 | 0.0929 | 12 | c.-36 others(23): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3548 | chr4 | TogoVar | |||||||
AMBN_chr4_70587256_70612288 | 70588722 | T | TATATATA others(5): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 HG01167.hp1 HG01169.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0022 a0002c0002t0002g0120 |
3 | 248 | 0.0121 | 12 | c.-36 others(23): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3533 | chr4 | TogoVar | |||||||
AMBN_chr4_70587256_70612288 | 70590506 | G | GCACACAC others(5): Show |
upstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0008 | 1 | 255 | 0.0039 | 12 | c.-18 others(23): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 1749 | chr4 | TogoVar | |||||||
AMBN_chr4_70587256_70612288 | 70590956 | C | CAAAAAAA others(5): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00558.hp1 others(140): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(77): Show |
143 | 266 | 0.5376 | 12 | c.-14 others(23): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 1299 | chr4 | TogoVar | |||||||
AMBN_chr4_70587256_70612288 | 70611484 | C | CAAAAAAA others(5): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0110 | 1 | 322 | 0.0031 | 12 | c.*47 others(23): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 4197 | chr4 | TogoVar | |||||||
AMBP_chr9_114055127_114083300 | 114066376 | C | CGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01099.hp2 HG01167.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0002t0001a0001c0009t0001 | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0050 others(26): Show |
37 | 40 | 0.9250 | 12 | c.603 others(29): Show |
AMBP | ENSG00000106927.12 | transcript | ENST00000265132.8 | protein_coding | 6/9 | chr9 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46400473 | G | GTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0149 | 1 | 13 | 0.0769 | 12 | c.340 others(31): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 17/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46425310 | T | TTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01081.hp2 HG02451.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0064 a0001c0001t0001g0073 a0001c0001t0001g0074 others(1): Show |
4 | 61 | 0.0656 | 12 | c.297 others(31): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 14/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46527477 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG03041.hp1 NA18942.hp2 NA18964.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0139 others(1): Show |
4 | 67 | 0.0597 | 12 | c.207 others(33): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 7/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46552368 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015 | 1 | 8 | 0.1250 | 12 | c.-12 others(31): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46583677 | A | AAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0004 | 1 | 150 | 0.0067 | 12 | c.-12 others(33): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46585691 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 146 | 0.0068 | 12 | c.-12 others(31): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | |||||||
AMBRA1_chr11_46391414_46599023 | 46585693 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 137 | 0.0073 | 12 | c.-12 others(31): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | |||||||
AMDHD1_chr12_95938331_95973720 | 95944327 | T | TTTTATTT others(5): Show |
intron_variant | MODIFIER | HG02922.hp2 NA19004.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0094 a0001c0001t0007g0093 |
2 | 109 | 0.0183 | 12 | c.137 others(27): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AMDHD1_chr12_95938331_95973720 | 95946061 | C | CTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0003 | a0002c0003t0015 | a0002c0003t0015g0078 | 1 | 171 | 0.0058 | 12 | c.137 others(29): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AMDHD1_chr12_95938331_95973720 | 95946576 | G | GCTCCCCC others(5): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02698.hp1 HG02818.hp1 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0002 a0002c0003t0001g0019 a0002c0003t0001g0075 |
5 | 345 | 0.0145 | 12 | c.137 others(29): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AMDHD1_chr12_95938331_95973720 | 95964032 | T | TAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01081.hp2 NA19030.hp2 |
a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0080 a0002c0003t0009g0081 |
2 | 171 | 0.0117 | 12 | c.938 others(29): 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(5): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG00735.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0003a0001c0002t0008others(2): Show | a0001c0001t0001g0118 a0001c0001t0001g0166 a0001c0001t0001g0174 others(9): Show |
14 | 78 | 0.1795 | 12 | c.939 others(27): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AMDHD2_chr16_2515371_2536417 | 2517713 | T | TTGTGTGT others(5): Show |
upstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 58 | 0.0172 | 12 | c.-27 others(23): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 2657 | chr16 | TogoVar | |||||||
AMDHD2_chr16_2515371_2536417 | 2533275 | C | CTTTTTTT others(5): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00673.hp1 others(70): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(26): Show |
73 | 83 | 0.8795 | 12 | c.*37 others(23): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 1859 | chr16 | TogoVar | |||||||
AMDHD2_chr16_2515371_2536417 | 2533430 | A | ATTTTTTT others(5): Show |
downstream_gene_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 13 | 0.0769 | 12 | c.*38 others(23): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 2014 | chr16 | TogoVar | |||||||
AMER1_chrX_64180117_64210708 | 64189514 | G | GTGTATAT others(5): Show |
3_prime_UTR_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 108 | 0.0093 | 12 | c.*36 others(21): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 364 | chrX | TogoVar | ||||||
AMER1_chrX_64180117_64210708 | 64189514 | G | GTGTGTGT others(5): Show |
3_prime_UTR_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0108 | 1 | 108 | 0.0093 | 12 | c.*36 others(21): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 364 | chrX | TogoVar | ||||||
AMER1_chrX_64180117_64210708 | 64189514 | G | GTGTGTGT others(5): Show |
3_prime_UTR_variant | MODIFIER | HG03225.hp1 NA19240.hp1 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0003 | 2 | 109 | 0.0183 | 12 | c.*36 others(21): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 364 | chrX | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25174477 | G | GTCATCAT others(5): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG01106.hp1 HG01167.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 others(4): Show |
14 | 298 | 0.0470 | 12 | c.-28 others(23): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2190 | chr13 | TogoVar | |||||||
AMER2_chr13_25156679_25177288 | 25174477 | G | GTCGTCAT others(5): Show |
upstream_gene_variant | MODIFIER | NA18951.hp1 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0000 | 1 | 285 | 0.0035 | 12 | c.-28 others(23): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2190 | chr13 | TogoVar | |||||||
AMER2_chr13_25156679_25177288 | 25174782 | T | TTTCCTTC others(5): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG01071.hp1 HG01168.hp2 others(21): Show |
a0001a0002a0004 | a0001c0001a0001c0013a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 others(10): Show |
24 | 333 | 0.0721 | 12 | c.-31 others(23): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2495 | chr13 | TogoVar | |||||||
AMER2_chr13_25156679_25177288 | 25174821 | C | CCTTCCTT others(5): Show |
upstream_gene_variant | MODIFIER | HG03579.hp2 HG06807.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0034a0001c0006t0078 | a0001c0001t0034g0000 a0001c0006t0078g0000 |
2 | 393 | 0.0051 | 12 | c.-32 others(23): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2534 | chr13 | TogoVar | |||||||
AMER2_chr13_25156679_25177288 | 25174821 | C | CCTTTCTT others(5): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0000 | 1 | 392 | 0.0026 | 12 | c.-32 others(23): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2534 | chr13 | TogoVar | |||||||
AMER2_chr13_25156679_25177288 | 25174825 | C | CCTTCCTT others(5): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 NA18954.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0088 | a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0088g0000 |
5 | 168 | 0.0298 | 12 | c.-32 others(23): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2538 | chr13 | TogoVar | |||||||
AMER2_chr13_25156679_25177288 | 25174825 | C | CCTTCCTT others(5): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG01168.hp1 HG02965.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 others(3): Show |
10 | 173 | 0.0578 | 12 | c.-32 others(23): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2538 | chr13 | TogoVar | |||||||
AMER2_chr13_25156679_25177288 | 25174825 | C | CCTTTCTT others(5): Show |
upstream_gene_variant | MODIFIER | HG01123.hp2 HG02630.hp1 HG03516.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0033a0001c0001t0064others(1): Show | a0001c0001t0006g0000 a0001c0001t0033g0000 a0001c0001t0064g0000 others(1): Show |
5 | 168 | 0.0298 | 12 | c.-32 others(23): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2538 | chr13 | TogoVar | |||||||
AMER3_chr2_130750540_130773134 | 130771107 | G | GAAACTGA others(5): Show |
downstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 358 | 0.0028 | 12 | c.*64 others(23): Show |
AMER3 | ENSG00000178171.12 | transcript | ENST00000321420.5 | protein_coding | 2974 | chr2 | TogoVar | |||||||
AMFR_chr16_56356452_56430545 | 56359469 | T | TAAAAAAA others(5): Show |
downstream_gene_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 85 | 0.0118 | 12 | c.*34 others(23): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 1982 | chr16 | TogoVar | |||||||
AMFR_chr16_56356452_56430545 | 56406123 | A | AAGAGGGA others(5): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0009 | a0001c0009t0035 | a0001c0009t0035g0135 | 1 | 351 | 0.0028 | 12 | c.667 others(27): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 4/13 | chr16 | TogoVar | |||||||
AMFR_chr16_56356452_56430545 | 56406127 | G | GGGAGAGA others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(222): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 others(222): Show |
225 | 336 | 0.6696 | 12 | c.667 others(27): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 4/13 | chr16 | TogoVar | |||||||
AMFR_chr16_56356452_56430545 | 56406153 | G | GAGAGAGG others(5): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0185 | 1 | 354 | 0.0028 | 12 | c.667 others(27): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 4/13 | chr16 | TogoVar | |||||||
AMFR_chr16_56356452_56430545 | 56406552 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03209.hp2 |
a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0322 a0001c0002t0012g0325 |
2 | 88 | 0.0227 | 12 | c.667 others(29): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 4/13 | chr16 | TogoVar | |||||||
AMFR_chr16_56356452_56430545 | 56425420 | T | TCGCTGCC others(5): Show |
5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(175): Show |
a0001a0003 | a0001c0001a0001c0007a0003c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 others(175): Show |
178 | 326 | 0.5460 | 12 | c.-10 others(20): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 1/14 | 94 | chr16 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56425436 | T | TGCCGCTG others(5): Show |
5_prime_UTR_variant | MODIFIER | NA18941.hp2 NA18962.hp2 NA19065.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0052a0001c0001t0053 | a0001c0001t0028g0345 a0001c0001t0028g0346 a0001c0001t0052g0344 others(1): Show |
4 | 350 | 0.0114 | 12 | c.-11 others(21): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 1/14 | 110 | chr16 | TogoVar | ||||||
AMIGO1_chr1_109499178_109514727 | 109501054 | T | TACACACA others(5): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00609.hp1 others(108): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0008 others(9): Show |
111 | 322 | 0.3447 | 12 | c.*63 others(23): Show |
AMIGO1 | ENSG00000181754.7 | transcript | ENST00000369864.5 | protein_coding | 3123 | chr1 | TogoVar | |||||||
AMIGO1_chr1_109499178_109514727 | 109501073 | A | ACACACAC others(5): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 398 | 0.0025 | 12 | c.*63 others(23): Show |
AMIGO1 | ENSG00000181754.7 | transcript | ENST00000369864.5 | protein_coding | 3104 | chr1 | TogoVar |