regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALOX12_chr17_6991049_7015754 | 7006059 | C | CGGGGGGG others(6): Show |
intron_variant | MODIFIER | HG02300.hp2 NA18942.hp2 |
a0002 | a0002c0002a0002c0013 | a0002c0002t0001a0002c0013t0001 | a0002c0002t0001g0069a0002c0013t0001g0068 | 2 | 404 | 0.0050 | 13 | c.141 others(28): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 10/13 | chr17 | TogoVar | ||||||
ALOX12_chr17_6991049_7015754 | 7011464 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0048 | 1 | 404 | 0.0025 | 13 | c.*10 others(24): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 711 | chr17 | TogoVar | ||||||
ALOX15B_chr17_8034059_8054134 | 8040647 | G | GAAAGAAA others(6): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0009 | a0009c0052 | a0009c0052t0002 | a0009c0052t0002g0156 | 1 | 470 | 0.0021 | 13 | c.449 others(28): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALOX15B_chr17_8034059_8054134 | 8049298 | A | AAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0141 | 1 | 470 | 0.0021 | 13 | c.*73 others(22): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 165 | chr17 | TogoVar | ||||||
ALOX15B_chr17_8034059_8054134 | 8050306 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 HG01123.hp1 HG01175.hp1 others(51): Show |
a0001a0003a0020others(2): Show | a0001c0001a0001c0010a0001c0046others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0009others(40): Show | 54 | 470 | 0.1149 | 13 | c.*17 others(24): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 1173 | chr17 | TogoVar | ||||||
ALOX5_chr10_45369216_45451117 | 45391092 | T | TCCCTCTC others(6): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0108 | 1 | 345 | 0.0029 | 13 | c.350 others(30): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ALOX5_chr10_45369216_45451117 | 45419737 | T | TCAAAAGA others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(278): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0012others(251): Show | 281 | 345 | 0.8145 | 13 | c.555 others(30): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ALOXE3_chr17_8090900_8123514 | 8107817 | G | GAAAGAAA others(6): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0030 | 1 | 422 | 0.0024 | 13 | c.168 others(30): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
ALPK1_chr4_112292369_112447621 | 112349551 | G | GCCCCCCC others(6): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0004 | a0004c0005 | a0004c0005t0010 | a0004c0005t0010g0220 | 1 | 306 | 0.0033 | 13 | c.-10 others(34): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ALPK2_chr18_58476247_58634091 | 58502179 | C | CACACACA others(6): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0024 | a0024c0025 | a0024c0025t0014 | a0024c0025t0014g0109 | 1 | 320 | 0.0031 | 13 | c.624 others(32): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 11/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58521625 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00733.hp2 others(3): Show |
a0002a0013a0015 | a0002c0002a0013c0009a0015c0013 | a0002c0002t0003a0013c0009t0006a0015c0013t0005others(1): Show | a0002c0002t0003g0180a0002c0002t0003g0318a0013c0009t0006g0016others(3): Show | 6 | 320 | 0.0188 | 13 | c.566 others(32): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 8/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58521627 | C | CTCTTTTT others(6): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02056.hp2 HG03704.hp1 others(5): Show |
a0002a0004a0046 | a0002c0002a0004c0004a0046c0061 | a0002c0002t0001a0002c0002t0003a0002c0002t0004others(3): Show | a0002c0002t0001g0246a0002c0002t0003g0301a0002c0002t0004g0121others(5): Show | 8 | 320 | 0.0250 | 13 | c.566 others(32): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 8/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58521627 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01069.hp2 HG01099.hp1 others(22): Show |
a0002a0004a0011others(7): Show | a0002c0002a0002c0014a0004c0004others(9): Show | a0002c0002t0003a0002c0002t0004a0002c0002t0005others(15): Show | a0002c0002t0003g0129a0002c0002t0003g0182a0002c0002t0004g0280others(22): Show | 25 | 320 | 0.0781 | 13 | c.566 others(32): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 8/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58564123 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG01175.hp2 others(17): Show |
a0001a0003a0004others(4): Show | a0001c0001a0003c0003a0004c0004others(4): Show | a0001c0001t0001a0003c0003t0001a0003c0003t0003others(10): Show | a0001c0001t0001g0217a0003c0003t0001g0187a0003c0003t0001g0194others(17): Show | 20 | 320 | 0.0625 | 13 | c.196 others(34): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | ||||||
ALPK3_chr15_84812356_84878479 | 84833988 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | HG00544.hp2 NA18612.hp2 |
a0001a0002 | a0001c0002a0002c0008 | a0001c0002t0002a0002c0008t0002 | a0001c0002t0002g0235a0002c0008t0002g0212 | 2 | 340 | 0.0059 | 13 | c.305 others(30): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 3/13 | chr15 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201734467 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02886.hp1 |
a0001a0014 | a0001c0004a0014c0014 | a0001c0004t0001a0014c0014t0001 | a0001c0004t0001g0047a0014c0014t0001g0043 | 2 | 354 | 0.0057 | 13 | c.241 others(32): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 12/33 | chr2 | TogoVar | ||||||
ALX1_chr12_85275220_85306784 | 85277600 | A | ACAGCTCT others(6): Show |
upstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 384 | 0.0026 | 13 | c.-26 others(24): Show |
ALX1 | ENSG00000180318.4 | transcript | ENST00000316824.4 | protein_coding | 2619 | chr12 | TogoVar | ||||||
ALX3_chr1_110054870_110075672 | 110062645 | G | GTGTGTGT others(6): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02615.hp2 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0058a0001c0001t0001g0120a0001c0001t0003g0159 | 4 | 422 | 0.0095 | 13 | c.595 others(30): Show |
ALX3 | ENSG00000156150.9 | transcript | ENST00000647563.2 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
ALX4_chr11_44255440_44315139 | 44279535 | G | GACGCAGA others(6): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01358.hp2 HG02004.hp1 others(2): Show |
a0002 | a0002c0003a0002c0004a0002c0008 | a0002c0003t0001a0002c0004t0003a0002c0004t0014others(1): Show | a0002c0003t0001g0130a0002c0004t0003g0122a0002c0004t0003g0156others(2): Show | 5 | 388 | 0.0129 | 13 | c.467 others(30): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70588675 | G | GTCCTCTC others(6): Show |
upstream_gene_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 480 | 0.0021 | 13 | c.-36 others(24): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3580 | chr4 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70590956 | C | CAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00642.hp2 others(23): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0003c0007others(5): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0005others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0014others(19): Show | 26 | 480 | 0.0542 | 13 | c.-14 others(24): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 1299 | chr4 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70611484 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0013 | 1 | 480 | 0.0021 | 13 | c.*47 others(24): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 4197 | chr4 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46400473 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 160 | 0.0063 | 13 | c.340 others(32): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 17/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46527477 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03139.hp2 NA18906.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0036a0001c0001t0001g0080others(2): Show | 5 | 160 | 0.0313 | 13 | c.207 others(34): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 7/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46552368 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03209.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0015a0001c0001t0003g0016a0001c0001t0003g0019 | 3 | 160 | 0.0188 | 13 | c.-12 others(32): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46583677 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03579.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0005a0001c0003t0001g0007 | 2 | 160 | 0.0125 | 13 | c.-12 others(34): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46585693 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 160 | 0.0063 | 13 | c.-12 others(32): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46585695 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 160 | 0.0063 | 13 | c.-12 others(32): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
AMDHD1_chr12_95938331_95973720 | 95964032 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0003 | a0002c0003t0015 | a0002c0003t0015g0089 | 1 | 404 | 0.0025 | 13 | c.938 others(30): 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(6): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG02258.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0008t0001others(2): Show | a0001c0001t0001g0038a0001c0001t0005g0145a0001c0001t0005g0153others(5): Show | 9 | 404 | 0.0223 | 13 | c.939 others(28): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AMDHD1_chr12_95938331_95973720 | 95971936 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 404 | 0.0025 | 13 | c.*40 others(24): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 3217 | chr12 | TogoVar | ||||||
AMDHD2_chr16_2515371_2536417 | 2533275 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG01346.hp2 HG02165.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0015 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0006g0029others(1): Show | 7 | 318 | 0.0220 | 13 | c.*37 others(24): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 1859 | chr16 | TogoVar | ||||||
AMDHD2_chr16_2515371_2536417 | 2533430 | A | ATTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG01257.hp1 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002 | 2 | 318 | 0.0063 | 13 | c.*38 others(24): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 2014 | chr16 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25174782 | T | TTCCCCTT others(6): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 HG02717.hp2 NA18986.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009 | a0001c0001t0001g0000a0001c0001t0003g0000a0001c0001t0009g0000 | 3 | 416 | 0.0072 | 13 | c.-31 others(24): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2495 | chr13 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56359469 | T | TAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG02717.hp2 HG02818.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0002t0012 | a0001c0001t0003g0226a0001c0001t0006g0031a0001c0002t0012g0323others(3): Show | 6 | 356 | 0.0169 | 13 | c.*34 others(24): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 1982 | chr16 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56370015 | A | AGGGGAGG others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(231): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(39): Show | a0001c0001t0001g0157a0001c0001t0001g0159a0001c0001t0001g0160others(231): Show | 234 | 356 | 0.6573 | 13 | c.138 others(30): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 10/13 | chr16 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56374415 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0267a0001c0001t0004g0184 | 2 | 356 | 0.0056 | 13 | c.138 others(32): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 10/13 | chr16 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56374415 | A | AAACAAAA others(6): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0302 | 1 | 356 | 0.0028 | 13 | c.138 others(32): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 10/13 | chr16 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56406127 | G | GGAGAGAG others(6): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0324 | 1 | 356 | 0.0028 | 13 | c.667 others(28): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 4/13 | chr16 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56406163 | A | AGGAGAGA others(6): Show |
intron_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296 | 1 | 356 | 0.0028 | 13 | c.667 others(28): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 4/13 | chr16 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56406164 | G | GGAGAGAG others(6): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0284 | 1 | 356 | 0.0028 | 13 | c.667 others(28): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 4/13 | chr16 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56406552 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02717.hp1 HG03130.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0002t0012 | a0001c0001t0010g0202a0001c0001t0010g0204a0001c0001t0010g0205others(4): Show | 7 | 356 | 0.0197 | 13 | c.667 others(30): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 4/13 | chr16 | TogoVar | ||||||
AMN1_chr12_31666142_31734021 | 31699395 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0335 | 1 | 432 | 0.0023 | 13 | c.317 others(30): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 3/6 | chr12 | TogoVar | ||||||
AMOTL2_chr3_134350347_134379447 | 134372530 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 336 | 0.0030 | 13 | c.-61 others(30): Show |
AMOTL2 | ENSG00000114019.15 | transcript | ENST00000249883.10 | protein_coding | 1/9 | chr3 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38392377 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0106 | 1 | 288 | 0.0035 | 13 | c.160 others(30): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 18/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38406728 | T | TCTCTCTC others(6): Show |
intron_variant | MODIFIER | HG02155.hp2 NA18981.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068a0001c0001t0001g0130 | 2 | 288 | 0.0069 | 13 | c.139 others(34): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38437639 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(113): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0020a0001c0001t0001g0023a0001c0001t0001g0026others(113): Show | 116 | 288 | 0.4028 | 13 | c.101 others(32): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 11/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38437639 | A | AAAAGAAA others(6): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 288 | 0.0035 | 13 | c.101 others(32): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 11/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38441871 | T | TATATCAT others(6): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02135.hp2 HG02155.hp2 others(32): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0023a0001c0001t0001g0049a0001c0001t0001g0068others(32): Show | 35 | 288 | 0.1215 | 13 | c.101 others(32): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 11/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38473710 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02615.hp1 NA18986.hp2 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0004 | a0001c0001t0001g0172a0003c0006t0004g0011 | 2 | 288 | 0.0069 | 13 | c.590 others(30): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 7/20 | chr7 | TogoVar |