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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALOX12_chr17_6991049_7015754 | 7011464 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0046 | 1 | 246 | 0.0041 | 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 | a0010 | a0010c0052 | a0010c0052t0002 | a0010c0052t0002g0108 | 1 | 443 | 0.0023 | 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 | a0001c0010t0001g0107 | 1 | 465 | 0.0022 | 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 |
a0001a0003a0017others(2): Show | a0001c0001a0001c0010a0001c0046others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(9): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 others(40): Show |
54 | 79 | 0.6835 | 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 | a0001c0007t0001g0109 | 1 | 344 | 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(277): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0012 others(249): Show |
280 | 344 | 0.8140 | 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 | a0001c0002t0001g0051 | 1 | 420 | 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 | a0004c0005t0010g0221 | 1 | 79 | 0.0127 | 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 | a0013 | a0013c0025 | a0013c0025t0014 | a0013c0025t0014g0109 | 1 | 315 | 0.0032 | 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 |
a0001a0006 | a0001c0002a0006c0009a0006c0013 | a0001c0002t0003a0006c0009t0006a0006c0013t0005others(1): Show | a0001c0002t0003g0182 a0001c0002t0003g0318 a0006c0009t0006g0016 others(3): Show |
6 | 270 | 0.0222 | 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 |
a0001a0003a0045 | a0001c0002a0003c0004a0045c0061 | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(3): Show | a0001c0002t0001g0246 a0001c0002t0003g0301 a0001c0002t0004g0121 others(5): Show |
8 | 30 | 0.2667 | 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 |
a0001a0003a0006others(1): Show | a0001c0002a0001c0014a0003c0004others(9): Show | a0001c0002t0003a0001c0002t0004a0001c0002t0005others(15): Show | a0001c0002t0003g0125 a0001c0002t0003g0181 a0001c0002t0004g0280 others(22): Show |
25 | 47 | 0.5319 | 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 |
a0002a0003a0004others(2): Show | a0002c0001a0003c0004a0003c0053others(4): Show | a0002c0001t0001a0003c0004t0001a0003c0004t0002others(10): Show | a0002c0001t0001g0217 a0003c0004t0001g0229 a0003c0004t0001g0260 others(17): Show |
20 | 44 | 0.4545 | 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 | a0001c0002t0002g0216 a0002c0008t0002g0198 |
2 | 327 | 0.0061 | 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 |
a0001a0010 | a0001c0004a0010c0014 | a0001c0004t0001a0010c0014t0001 | a0001c0004t0001g0047 a0010c0014t0001g0043 |
2 | 326 | 0.0061 | 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 | 382 | 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 | a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0003g0014 |
4 | 172 | 0.0233 | 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 | a0002c0003t0001g0133 a0002c0004t0003g0125 a0002c0004t0003g0159 others(2): Show |
5 | 386 | 0.0130 | 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 | a0001c0001t0001g0212 | 1 | 398 | 0.0025 | 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 |
a0001a0002a0003others(4): Show | a0001c0001a0002c0025a0003c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0015 others(19): Show |
26 | 149 | 0.1745 | 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 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 1 | 322 | 0.0031 | 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 | 13 | 0.0769 | 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 | a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0085 others(2): Show |
5 | 68 | 0.0735 | 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 | a0001c0001t0003g0014 a0001c0001t0003g0016 a0001c0001t0003g0018 |
3 | 10 | 0.3000 | 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 | a0001c0003t0001g0006 a0001c0003t0001g0007 |
2 | 151 | 0.0132 | 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 | a0001c0001t0001g0096 | 1 | 137 | 0.0073 | 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 | a0001c0001t0001g0107 | 1 | 67 | 0.0149 | 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 | a0002c0003t0015g0078 | 1 | 170 | 0.0059 | 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 |
a0001a0002a0004 | a0001c0001a0001c0008a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0008t0001others(2): Show | a0001c0001t0001g0043 a0001c0001t0005g0122 a0001c0001t0005g0130 others(5): Show |
9 | 73 | 0.1233 | 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 | a0001c0001t0001g0004 | 1 | 150 | 0.0067 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0006g0026 others(1): Show |
7 | 17 | 0.4118 | 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 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
2 | 14 | 0.1429 | 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 | a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0009g0000 |
3 | 312 | 0.0096 | 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 | a0001c0001t0003g0226 a0001c0001t0006g0031 a0001c0002t0012g0323 others(3): Show |
6 | 90 | 0.0667 | 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(230): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(39): Show | a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 others(230): Show |
233 | 354 | 0.6582 | 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 | a0001c0001t0003g0267 a0001c0001t0004g0184 |
2 | 95 | 0.0211 | 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 | 94 | 0.0106 | 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 | 112 | 0.0089 | 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 | 353 | 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 | 353 | 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 | a0001c0001t0010g0202 a0001c0001t0010g0204 a0001c0001t0010g0205 others(4): Show |
7 | 93 | 0.0753 | 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 | a0001c0001t0001g0329 | 1 | 21 | 0.0476 | 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 | a0001c0001t0001g0055 | 1 | 53 | 0.0189 | 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 | a0001c0001t0004g0114 | 1 | 2 | 0.5000 | 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 | a0001c0001t0001g0072 a0001c0001t0001g0130 |
2 | 145 | 0.0138 | 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 |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0026 others(113): Show |
116 | 188 | 0.6170 | 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 | a0001c0001t0001g0182 | 1 | 73 | 0.0137 | 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 |
a0001a0007 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0023 a0001c0001t0001g0049 a0001c0001t0001g0072 others(32): Show |
35 | 264 | 0.1326 | 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 | a0001c0001t0001g0198 a0003c0006t0004g0011 |
2 | 146 | 0.0137 | 13 | c.590 others(30): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 7/20 | chr7 | TogoVar | |||||||
AMPH_chr7_38378704_38636373 | 38610260 | A | AAAAAGAA others(6): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0166 | 1 | 84 | 0.0119 | 13 | c.69+ others(30): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar |