| Custom Name | dbSNP id | Position | Length | Taxonomy | Molecule | Class | Build | Flanking Sequence - Left | Alleles | Flanking Sequence - Right | MAF | MAF Species | Chromosome | Annotation | Reference | Source | Scores (seq.qual/info) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BGISUSV0000204629 | 187425 | 61 | 9823 | GTTATCAAGTCTGCCTATGACCAAGTAAAA | A/G | CAATTGCTCAAGGAAACCTTTCTAATACAG | 3 | UQCRC2|Change amino acid:a | SANGERun|bE3C2 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204630 | 187420 | 61 | 9823 | CAAGTCTGCCTATGACCAAGTAAAAACAAT | T/G | GCTCAAGGAAACCTTTCTAATACAGATGTC | 3 | UQCRC2|Change amino acid:a | SANGERun|bE3C2 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204631 | 184376 | 61 | 9823 | TTCTGAGGGTTTCCTGGATGAAGTTGGGTC | T/C | CAGGCTCTAGTTGCTGGTTCGTACGTGCAG | 3 | UQCRC2|Change amino acid:s | SANGERun|bE3C2 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204632 | 184355 | 61 | 9823 | AGTTGGGTCCCAGGCTCTAGTTGCTGGTTC | T/G | TACGTGCAGCCATCCACGGTCCTTCAGCAG | 3 | UQCRC2|Change amino acid:s | SANGERun|bE3C2 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204633 | 184351 | 61 | 9823 | GGGTCCCAGGCTCTAGTTGCTGGTTCGTAC | A/G | TGCAGCCATCCACGGTCCTTCAGCAGATTG | 3 | UQCRC2|Change amino acid:a | SANGERun|bE3C2 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204637 | 144918 | 61 | 9823 | ATTCTGTTGCTGGAAAGCCATCTGCTGCAA | T/C | AGCTGTGAGCTGACCAACATCACCATCACA | 2 | FSHB|Change amino acid:s | SANGERun|bE91B8 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204643 | 78777 | 61 | 9823 | CACCAGTTCACTGGAGACCAGATTCTTACT | T/G | GCAGATAACCTGTATTGCAAAGCTTCAGTT | 1 | VBP1|Change amino acid:s | SANGERun|bE393M19 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204651 | 110603 | 61 | 9823 | CAATGACGAACCTGTCCCCTTCTGGACATT | T/C | CTGTCCCGCATTTTGACAGGCCTCAATTAC | X | NSDHL|Change amino acid:s | SANGERun|bE187E18 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204652 | 79778 | 61 | 9823 | CTTTCTGTGTGGTTCACTTGTTTTCCATGT | T/G | GGTAATGAGTGGCTGGAATTCTTCTATCCA | 13 | KTELC1|Change amino acid:s | SANGERun|bE436O17 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204654 | 18264 | 61 | 9823 | AGCAACATCACCAGCTTCTCAGCTGTCACC | A/G | ACCGAACTGATAGAGATGCAGAATGATCTC | 13 | MRPL39|Change amino acid:s | SANGERun|bE276F6 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204655 | 18204 | 61 | 9823 | CTTTAACAAAGAGAAAAACAGGCAGCTATC | T/C | TTAACTCCCCGAACTGAGAAGATTGAAGTT | 13 | MRPL39|Change amino acid:s | SANGERun|bE276F6 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204656 | 18192 | 61 | 9823 | GAAAAACAGGCAGCTATCCTTAACTCCCCG | A/G | ACTGAGAAGATTGAAGTTAAACACGTTGGG | 13 | MRPL39|Change amino acid:s | SANGERun|bE276F6 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204657 | 18127 | 61 | 9823 | CTGACCCTGGCACTGTCTTCGTGATGAATA | A/G | AAACATTTCAACTCCTTATAGTTGTGCCAT | 13 | MRPL39|Change amino acid:a | SANGERun|bE276F6 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204661 | 18204 | 61 | 9823 | CTTTAACAAAGAGAAAAACAGGCAGCTATC | T/C | TTAACTCCCCGAACTGAGAAGATTGAAGTT | 13 | MRPL39|Change amino acid:s | SANGERun|bE276F6 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204662 | 18192 | 61 | 9823 | GAAAAACAGGCAGCTATCCTTAACTCCCCG | A/G | ACTGAGAAGATTGAAGTTAAACACGTTGGG | 13 | MRPL39|Change amino acid:s | SANGERun|bE276F6 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204663 | 18127 | 61 | 9823 | CTGACCCTGGCACTGTCTTCGTGATGAATA | A/G | AAACATTTCAACTCCTTATAGTTGTGCCAT | 13 | MRPL39|Change amino acid:a | SANGERun|bE276F6 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204669 | 192364 | 61 | 9823 | ACACTGTCATCAACTTCAGAGGCAGCTCCG | T/G | GATCCGACTGCGGATATACGTGTCTCAGTA | 7 | FBLN5|Change amino acid:a | SANGERun|bE262C5 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204686 | 32686 | 61 | 9823 | CCTTCCACAACCAGTACTCCCACATCTCCA | T/G | GCTGGATTACAACCCCCGGGAGCGGGCCCT | 2 | OLFM2|Change amino acid:a | SANGERun|bE210G21 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204687 | 32683 | 61 | 9823 | TCCACAACCAGTACTCCCACATCTCCATGC | T/G | GGATTACAACCCCCGGGAGCGGGCCCTCTA | 2 | OLFM2|Change amino acid:a | SANGERun|bE210G21 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204688 | 32648 | 61 | 9823 | TACAACCCCCGGGAGCGGGCCCTCTACACC | T/G | GGAACAACGGCCACCAGGTGCTCTACAATG | 2 | OLFM2|Change amino acid:a | SANGERun|bE210G21 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204689 | 32618 | 61 | 9823 | CTGGAACAACGGCCACCAGGTGCTCTACAA | T/G | GTCACGCTCTTCCACGTCATCAGCACCGCT | 2 | OLFM2|Change amino acid:a | SANGERun|bE210G21 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204690 | 56584 | 61 | 9823 | CTGGTTTTACCGTTTGCTGTCTGCCCTCTT | T/G | GGCATCCCAATGGCGCTCATCTGGGGCATT | 18 | CAV1|Change amino acid:a | SANGERun|bE299F11 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204691 | 56569 | 61 | 9823 | GCTGTCTGCCCTCTTTGGCATCCCAATGGC | A/G | CTCATCTGGGGCATTTACTTTGCCATTCTC | 18 | CAV1|Change amino acid:s | SANGERun|bE299F11 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204692 | 56518 | 61 | 9823 | TGCCATTCTCTCCTTCCTGCACATCTGGGC | C/G | GTTGTACCCTGCATTAAGAGTTTCCTGATT | 18 | CAV1|Change amino acid:s | SANGERun|bE299F11 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204693 | 56501 | 61 | 9823 | TGCACATCTGGGCGGTTGTACCCTGCATTA | A/G | GAGTTTCCTGATTGAGATTCAGTGCATCAG | 18 | CAV1|Change amino acid:a | SANGERun|bE299F11 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204694 | 56429 | 61 | 9823 | TTCCATCTACGTCCACACCTTCTGTGACCC | A/G | CTCTTTGAGGCTATTGGCAAAATATTCAGC | 18 | CAV1|Change amino acid:s | SANGERun|bE299F11 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204695 | 56414 | 61 | 9823 | CACCTTCTGTGACCCGCTCTTTGAGGCTAT | T/G | GGCAAAATATTCAGCAATATCCGCATCAAC | 18 | CAV1|Change amino acid:a | SANGERun|bE299F11 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204710 | 91576 | 61 | 9823 | GCAGCCAGGGCGTCCGGGAGGGCCTCATCG | T/G | GGGCTTCATCCGCTCCATGTGCCAGACGGC | 2 | C11orf2|Change amino acid:a | SANGERun|bE284K16 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204711 | 92829 | 61 | 9823 | CCCCAATGGACACCAACCTCTTGAGCAACA | T/C | CCAGAAGCTGTTCTCTGAACGTATTGACGT | 2 | C11orf2|Change amino acid:a | SANGERun|bE284K16 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204713 | 9038 | 61 | 9823 | AAGCCCATGGTGATATTGCCTTACATGAAT | T/G | GGGGGAATCTTAAATGGTTTTTACGCCAGT | 13 | |Change amino acid:a | SANGERun|bE516E14 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204714 | 9054 | 61 | 9823 | TGCCTTACATGAATGGGGGGAATCTTAAAT | T/G | GTTTTTACGCCAGTGCAAATTAGTAGAAGC | 13 | RYK|Change amino acid:a | SANGERun|bE516E14 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204719 | 114682 | 61 | 9823 | GGCAGTGCTGAGGACACTGAAGGACACCCC | A/G | ATGAGAGTCCACACAGGCCCCTGCTGCTGC | 13 | NP_689885.3|Change amino acid:s | SANGERun|bE182C12 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204725 | 19503 | 61 | 9823 | GGGAGGGTGGCAGAGCTGGATTCCCCTGCC | A/G | CCCTGCGCAGCCAGCCCCACTCGCTGTTCC | 7 | ABCC10|Change amino acid:a | SANGERas|bI52G3 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204726 | 19503 | 61 | 9823 | GGGAGGGTGGCAGAGCTGGATTCCCCTGCC | A/G | CCCTGCGCAGCCAGCCCCACTCGCTGTTCC | 7 | ABCC10|Change amino acid:a | SANGERas|bI52G3 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204728 | 206150 | 61 | 9823 | GAACCACCTGCTGGAGTCCATGCCGCTGCG | C/G | GAGAGCAGCAGCTTCAGGGACCTGCTGGGG | 15 | HES6|Change amino acid:s | SANGERun|bE35A9 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204729 | 206192 | 61 | 9823 | CTTCAGGGACCTGCTGGGGGACGCCCTGTC | C/G | GGGCCACCGGGAGTCCACGGGCGGAGCAAC | 15 | HES6|Change amino acid:s | SANGERun|bE35A9 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204756 | 85094 | 61 | 9823 | GCAGAGTCCAGGTACCGAGAGTCACCAGAA | A/G | GGGAAACCAGTTCCTCGTATTGCTGAACTC | 4 | DPYD|Change amino acid:s | SANGERun|bE182N4 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204841 | 187553 | 61 | 9823 | AAGACGCAGACGGAATACCAGCTGTCCTCT | T/G | CGGACCAGCCCAAGAAGTTCTCTGACCTGG | 14 | DRD1IP|Change amino acid:a | SANGERun|bE34M16 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204849 | 103999 | 61 | 9823 | TCTTACTGAACACATACGGATTCACACTGG | A/G | GAAAAACCCTATGTTTGTGCTGAGTGTGGC | 4 | ZNF251|Change amino acid:s | SANGERun|bE60P12 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204853 | 83272 | 61 | 9823 | CAATACCAAGAAGGAGGGAGACTTGATGGC | T/C | GCCCAGGCCCGGCTCAAGGACCTGGAGGCT | 4 | LMNA|Change amino acid:s | SANGERun|bE261P14 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204854 | 87399 | 61 | 9823 | GACCTCGCAGCGCAGCCGCGGCCGGGCCTC | T/C | TCCCACTCGTCCCAGACGCAGAGTGGGGGC | 4 | LMNA|Change amino acid:s | SANGERun|bE261P14 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204855 | 87507 | 61 | 9823 | CTTCTCCCAGCACGCTCGCACCAGCGGCCG | T/C | GTGGCCGTGGAGGAGGTGGACGAGGAGGGC | 4 | LMNA|Change amino acid:s | SANGERun|bE261P14 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204856 | 87399 | 61 | 9823 | GACCTCGCAGCGCAGCCGCGGCCGGGCCTC | T/C | TCCCACTCGTCCCAGACGCAGAGTGGGGGC | 4 | LMNA|Change amino acid:s | SANGERun|bE261P14 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204883 | 135818 | 61 | 9823 | CTTCCTCACCAAGCAAATGGAGAAAATCCA | A/G | CCAGCTCTGCAGGAGAAGCATGCCATGAAA | 5 | PFDN5|Change amino acid:s | SANGERun|bE3N12 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204887 | 6143 | 61 | 9823 | CTCCTCAGACCTGGTCAACATGGGCATCAG | T/C | GTGGTCAGCTACACCCTGAAGGACATTCAC | 7 | FLOT1|Change amino acid:s | SANGERas|bE239H1 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204888 | 5956 | 61 | 9823 | AACAGCTCAAGTCCAAAAAGATGCTCGGAT | T/G | GGGGAAGCAGAGGCCAAGAGAGATGCTGGG | 7 | FLOT1|Change amino acid:a | SANGERas|bE239H1 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204890 | 114431 | 61 | 9823 | GGCCGTGTCCTCAGGCGGGGAGCTCTTCCT | T/G | CGCTTCATCAGCCTTACCTCCCTGGAATAC | 14 | EIF2B1|Change amino acid:s | SANGERun|bE245F7 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204891 | 55296 | 61 | 9823 | GAGCGGGCCCAGCAGGTGGCGGTGCAGGAG | C/G | AGGAGATCGCCCGCCGCGAGAAGGAGCTGG | 7 | FLOT1|Change amino acid:a | SANGERas|bE198M20 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204894 | 55760 | 61 | 9823 | GGCGGAGGCTGAGCAGATGGCCAAGAAGGC | A/G | GAGGCTTTCCAGCTGTACCAGGAGGCTGCT | 7 | FLOT1|Change amino acid:s | SANGERas|bE198M20 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204907 | 33740 | 61 | 9823 | GTTATTTGACGACGAATCGGACCCCTTCGA | T/G | GTGTTGAAGGCAGCAGAGAACAAGAAAAAA | 6 | SERBP1|Change amino acid:a | SANGERun|bE111N2 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204908 | 33812 | 61 | 9823 | GGGCGGCGTTGGGGGCCCTGGGGCCAAGAG | C/G | GCAGCTCAGGCCGCAGCGCAGACCAACTCC | 6 | SERBP1|Change amino acid:a | SANGERun|bE111N2 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204911 | 111082 | 61 | 9823 | AGAAGCCAGTCTGAGCTCAGACTCCCAGCG | T/C | CTGGGAGAGGGCAAGCGGGACGAGGAGCCT | 12 | RUNDC3A|Change amino acid:s | SANGERun|bE216D12 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204913 | 42216 | 61 | 9823 | AAATGAAGGTGCTGATGGGCAGTGGAAAAA | A/G | GGATTTGTTCTTCATAAGTCAAAGAGTGAA | 6 | SERBP1|Change amino acid:s | SANGERun|bE111N2 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204914 | 44958 | 61 | 9823 | TCAATTTTGGAGACCTTGGCCGCCCAGGAC | T/G | TGGTGGCAGGGGAGGACGAGGTGGCCGTGG | 6 | SERBP1|Change amino acid:a | SANGERun|bE111N2 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204916 | 33740 | 61 | 9823 | GTTATTTGACGACGAATCGGACCCCTTCGA | T/G | GTGTTGAAGGCAGCAGAGAACAAGAAAAAA | 6 | SERBP1|Change amino acid:a | SANGERun|bE111N2 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204917 | 33812 | 61 | 9823 | GGGCGGCGTTGGGGGCCCTGGGGCCAAGAG | C/G | GCAGCTCAGGCCGCAGCGCAGACCAACTCC | 6 | SERBP1|Change amino acid:a | SANGERun|bE111N2 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204920 | 15771 | 61 | 9823 | AATTAACCCTCTGCTTTCCATCCTGCGGCA | T/C | GTGGCAGACCTCCACAGAGAATGGGCGAAC | 13 | OXNAD1|Change amino acid:s | SANGERun|bE456O2 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204921 | 15769 | 61 | 9823 | TTAACCCTCTGCTTTCCATCCTGCGGCATG | A/T | GGCAGACCTCCACAGAGAATGGGCGAACAA | 13 | OXNAD1|Change amino acid:a | SANGERun|bE456O2 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204926 | 91146 | 61 | 9823 | CAAAATCAAGAGCATGGCCACGGCAGGACC | A/G | AGAAGGGCCATCTTCTCCAGTTTGGCCTCA | 14 | LRRC18|Change amino acid:s | SANGERun|bE268N12 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204955 | 91683 | 61 | 9823 | GCTGCAGCAGCTCCGGGTGCAGGAGGCAGT | T/G | GACTCCATGGTGAAGAATCTGGAGAGAGAG | 10 | FAM136A|Change amino acid:s | SANGERun|bE237A19 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204957 | 82255 | 61 | 9823 | TGTGTCCACAGACTCGTTGGCCCCATTTAC | A/G | GGGACACCAGGGTATTATAGCAGCCAGCCA | 13 | SETD5|Change amino acid:s | SANGERun|bE248I23 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204958 | 82297 | 61 | 9823 | GTATTATAGCAGCCAGCCACATTCTGGAAA | T/C | AGCACCGGCAGCAGTCTTCCAAGGAGGAGC | 13 | SETD5|Change amino acid:s | SANGERun|bE248I23 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204959 | 55473 | 61 | 9823 | GCGGATTTATGTAACCAATTATTACTACGG | T/C | AACACCCTGGTAGAGTTCCGGAACCTGGAG | 4 | OLFML2B|Change amino acid:s | SANGERas|bE452E5 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204975 | 77017 | 61 | 9823 | AGGCTGCATCCCGCTGAGGAAGGAGACTTT | T/G | GGGCAGAGTCAAGCATGTTTGGCCTCAAGA | 5 | DNAJC14|Change amino acid:a | SANGERun|bE141C7 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000204976 | 61 | 9823 | GGCCTTTACTCAGAACTCACAACTTTTTCA | A/G | CATCAGAGAATTCATACAGATGAAAAACCA | 6 | ZNF383|Change amino acid:s | SANGERun|bE176J13 | Miguel Perez (PIGGIS) | 60 / 50 | |||||||
| BGISUSV0000204893 | 55715 | 60 | 9823 | ATGCGTGGGGAGGCCGAGGCCTTTGCCAT | T/G | GGGGCCCGAGCCCGGGCGGAGGCTGAGCAG | 7 | FLOT1|Change amino acid:a | SANGERas|bE198M20 | Miguel Perez (PIGGIS) | 59 / 50 | ||||||
| BGISUSV0000204933 | 88337 | 57 | 9823 | ACTAGTTATTTAAGAGAAGAACATCTGTAT | T/G | GTATTTGGTGTGGAACAGCCTATGAA | 3 | CCDC75|Change amino acid:a | SANGERun|bE226P20 | Miguel Perez (PIGGIS) | 56 / 50 | ||||||
| BGISUSV0000204696 | 56390 | 56 | 9823 | AGGCTATTGGCAAAATATTCAGCAATATCC | A/G | CATCAACATGCAGAAAGAAATATAA | 18 | CAV1|Change amino acid:a | SANGERun|bE299F11 | Miguel Perez (PIGGIS) | 55 / 50 | ||||||
| BGISUSV0000204858 | 88866 | 55 | 9823 | TGAGGATGGAGATGACCTGCTCCATCACCA | T/C | CACGTGAGTGGCAGCCGCCGCTGA | 4 | LMNA|Change amino acid:s | SANGERun|bE261P14 | Miguel Perez (PIGGIS) | 54 / 50 | ||||||
| BGISUSV0000204889 | 5944 | 55 | 9823 | CCAAAAAGATGCTCGGATTGGGGAAGCAGA | A/G | GCCAAGAGAGATGCTGGGATCCGG | 7 | FLOT1|Change amino acid:s | SANGERas|bE239H1 | Miguel Perez (PIGGIS) | 54 / 50 | ||||||
| BGISUSV0000204733 | 45626 | 54 | 9823 | GCTGAAAGGAGCCCAGGTCCCAT | T/C | GTCACCCGAACTCGGAGCTGGGACTCTTCC | 18 | ZC3HC1|Change amino acid:s | SANGERun|bE203O19 | Miguel Perez (PIGGIS) | 53 / 50 | ||||||
| BGISUSV0000204884 | 134272 | 54 | 9823 | GCTGTCATGGAGATGATGAGCCA | T/G | AAGATTCAGCAGCTCACAGCCCTGGGAGCA | 5 | PFDN5|Change amino acid:a | SANGERun|bE3N12 | Miguel Perez (PIGGIS) | 53 / 50 | ||||||
| BGISUSV0000204898 | 127412 | 52 | 9823 | TGTTCCGGTTACCGGGATACCACCTCATGT | T/G | GTTAAAGTGCCAGCTTCACAG | 16 | G3BP1|Change amino acid:s | SANGERun|bE356E14 | Miguel Perez (PIGGIS) | 51 / 50 | ||||||
| BGISUSV0000204709 | 149974 | 51 | 9823 | ATGAGTGCCTCGGCAGCCAC | T/G | GGGGTCTTCGTGCTGTCCCTTTCGGCCATC | 7 | TM6SF1|Change amino acid:s | SANGERun|bE258B16 | Miguel Perez (PIGGIS) | 50 / 50 | ||||||
| BGISUSV0000204712 | 149974 | 51 | 9823 | ATGAGTGCCTCGGCAGCCAC | T/G | GGGGTCTTCGTGCTGTCCCTTTCGGCCATC | 7 | TM6SF1|Change amino acid:s | SANGERun|bE258B16 | Miguel Perez (PIGGIS) | 50 / 50 | ||||||
| BGISUSV0000204757 | 42416 | 51 | 9823 | TTAACAGGTGGAAAGGAGGTCACAGAAAAG | A/G | TGATCACAGATATTGCTGGG | 13 | RFC4|Change amino acid:a | SANGERun|bE82L2 | Miguel Perez (PIGGIS) | 50 / 50 | ||||||
| BGISUSV0000204919 | 23997 | 51 | 9823 | TGGGTTGATTTCTTTATCCC | A/G | GGAGTCTCTGTGGTTGGTGGATTCTCAATA | 13 | OXNAD1|Change amino acid:s | SANGERun|bE456O2 | Miguel Perez (PIGGIS) | 50 / 50 | ||||||
| BGISUSV0000204922 | 13993 | 51 | 9823 | GCGAGGAGCCACATTCCCAGAGAGCACATT | T/G | GCTTTGAGAAGTGGTGGTAG | 13 | OXNAD1|Change amino acid:a | SANGERun|bE456O2 | Miguel Perez (PIGGIS) | 50 / 50 | ||||||
| BGISUSV0000204638 | 9898 | 49 | 9823 | TTTGCCTTTATGTGGCTT | A/C | GGGTTTCGGTATACAAATCGATCCAAGAAT | 3 | CEBPZ|Change amino acid:s | SANGERun|bE129E17 | Miguel Perez (PIGGIS) | 48 / 50 | ||||||
| BGISUSV0000204915 | 45010 | 49 | 9823 | TGGCCGTGGGCGTGGTGGACGTCCAAACCG | T/G | GGCATCAGGACTGACAAG | 6 | SERBP1|Change amino acid:s | SANGERun|bE111N2 | Miguel Perez (PIGGIS) | 48 / 50 | ||||||
| BGISUSV0000204929 | 41733 | 49 | 9823 | GGTGTTGCTGGTTGATAATCGAATCAATTC | A/C | TATAGTGGTATTAAAAGA | 5 | C12orf4|Change amino acid:s | SANGERun|bE403B8 | Miguel Perez (PIGGIS) | 48 / 50 | ||||||
| BGISUSV0000204910 | 107328 | 48 | 9823 | AGGTTCTCTGTGAAAAC | T/C | CTGCTGGAGAAGTACACGGCAGAGCCCATC | 12 | RUNDC3A|Change amino acid:s | SANGERun|bE216D12 | Miguel Perez (PIGGIS) | 47 / 50 | ||||||
| BGISUSV0000204906 | 182843 | 47 | 9823 | CCTACCAGCCTCCCTC | A/C | CCACCACCAAAAAGTGGCTTCCATCGCTAC | 14 | PEBPL_HUMAN|Change amino acid:s | SANGERun|bE266L24 | Miguel Perez (PIGGIS) | 46 / 50 | ||||||
| BGISUSV0000204857 | 87507 | 46 | 9823 | CTTCTCCCAGCACGCTCGCACCAGCGGCCG | T/C | GTGGCCGTGGAGGAG | 4 | LMNA|Change amino acid:s | SANGERun|bE261P14 | Miguel Perez (PIGGIS) | 45 / 50 | ||||||
| BGISUSV0000204653 | 18288 | 45 | 9823 | AGATTGATAGCAAC | A/G | TCACCAGCTTCTCAGCTGTCACCGACCGAA | 13 | MRPL39|Change amino acid:s | SANGERun|bE276F6 | Miguel Perez (PIGGIS) | 44 / 50 | ||||||
| BGISUSV0000204960 | 55501 | 45 | 9823 | GGCAACACCCTGGTAGAGTTCCGGAACCTG | A/G | AGAACTTCAAACAA | 4 | OLFML2B|Change amino acid:a | SANGERas|bE452E5 | Miguel Perez (PIGGIS) | 44 / 50 | ||||||
| BGISUSV0000204715 | 10753 | 43 | 9823 | TGAAAGTCTGGTTAATAATGAGTTCTCCAG | T/G | GCTAGTGATGTG | 13 | RYK|Change amino acid:a | SANGERun|bE516E14 | Miguel Perez (PIGGIS) | 42 / 50 | ||||||
| BGISUSV0000204720 | 115416 | 43 | 9823 | GGGCCTGTTTCTCATCCCTGACGGCATCTA | T/C | ATCCCAGCAGAC | 13 | NP_689885.3|Change amino acid:s | SANGERun|bE182C12 | Miguel Perez (PIGGIS) | 42 / 50 | ||||||
| BGISUSV0000204912 | 39246 | 43 | 9823 | AACACCTGAAGGTGAAGAACATCCCGTTGC | A/G | GACACAGAAAAT | 6 | SERBP1|Change amino acid:s | SANGERun|bE111N2 | Miguel Perez (PIGGIS) | 42 / 50 | ||||||
| BGISUSV0000204923 | 39246 | 43 | 9823 | AACACCTGAAGGTGAAGAACATCCCGTTGC | A/G | GACACAGAAAAT | 6 | SERBP1|Change amino acid:s | SANGERun|bE111N2 | Miguel Perez (PIGGIS) | 42 / 50 | ||||||
| BGISUSV0000204931 | 85014 | 43 | 9823 | TTAGAAGAAGCCAGAGAGCCTGTCAACAAT | T/G | GGATACTCAGAA | 3 | CCDC75|Change amino acid:a | SANGERun|bE226P20 | Miguel Perez (PIGGIS) | 42 / 50 | ||||||
| BGISUSV0000204668 | 192476 | 40 | 9823 | CAAACGGGC | T/C | CCATCAGTGCCACCCTGGTGATGACACGTC | 7 | FBLN5|Change amino acid:a | SANGERun|bE262C5 | Miguel Perez (PIGGIS) | 39 / 50 | ||||||
| BGISUSV0000204776 | 68538 | 40 | 9823 | GCTCATATT | T/G | GGGTCAAAAACTGCCGGGATCTACTGCAGT | 4 | DAP3|Change amino acid:a | SANGERun|bE496F19 | Miguel Perez (PIGGIS) | 39 / 50 | ||||||
| BGISUSV0000204902 | 122959 | 40 | 9823 | CGAGCGGCTGCAGATGGACAATGAGCTCCT | A/G | AGGCAACAG | 6 | USF2|Change amino acid:s | SANGERun|bE50N19 | Miguel Perez (PIGGIS) | 39 / 50 | ||||||
| BGISUSV0000204885 | 134226 | 39 | 9823 | ACAGCCCTGGGAGCAGCTCAGGCAACTGCC | A/C | AAGCCTGA | 5 | PFDN5|Change amino acid:a | SANGERun|bE3N12 | Miguel Perez (PIGGIS) | 38 / 50 | ||||||
| BGISUSV0000204628 | 194370 | 37 | 9823 | CCAGGCTGTCGCCAAGGGAGTTCACCAGCC | A/T | TTTGAT | 3 | UQCRC2|Change amino acid:s | SANGERun|bE3C2 | Miguel Perez (PIGGIS) | 36 / 50 | ||||||
| BGISUSV0000204777 | 73146 | 37 | 9823 | GAAGGA | T/C | TTGACGCTCTGGATCCCTTTATTCCCATCC | 4 | DAP3|Change amino acid:a | SANGERun|bE496F19 | Miguel Perez (PIGGIS) | 36 / 50 | ||||||
| BGISUSV0000204881 | 138053 | 37 | 9823 | GCCGCAGCTGGAAATGCTCAAGAACCAGCT | A/G | GACCAG | 5 | PFDN5|Change amino acid:s | SANGERun|bE3N12 | Miguel Perez (PIGGIS) | 36 / 50 | ||||||
| BGISUSV0000204909 | 33961 | 37 | 9823 | GGAGGAGACGCAGCCGCCTGTGGCGCTTAA | A/G | AAAGAA | 6 | SERBP1|Change amino acid:s | SANGERun|bE111N2 | Miguel Perez (PIGGIS) | 36 / 50 | ||||||
| BGISUSV0000204918 | 33961 | 37 | 9823 | GGAGGAGACGCAGCCGCCTGTGGCGCTTAA | A/G | AAAGAA | 6 | SERBP1|Change amino acid:s | SANGERun|bE111N2 | Miguel Perez (PIGGIS) | 36 / 50 |
100 Rows queried.