| 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) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BGISUSV0000208057 | 35230 | 61 | 9823 | TCGCATTGGCAGCTCTGGATGGGAGCAGGA | A/G | CCTAGAGGAGCTGACTTGCCTGGCCTTCGA | 7 | AGPAT7|Change amino acid:a | SANGERun|bE18H12 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208061 | 79911 | 61 | 9823 | CCTGGGCCCCTCCACCTGCCTCACAGCCTG | T/C | TGGACGGCCCTCTGCTGCTGCTGCCTCTGG | 2 | C5orf32|Change amino acid:s | SANGERun|bE200N5 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208063 | 25569 | 61 | 9823 | CCTGGAGCGGACAGAACCCTCCCCACCCCC | T/G | GCAGCTCCCCGGGAGTCCGAGGAGGGGCTG | 1 | TESK1|Change amino acid:s | SANGERun|bE97C14 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208064 | 25638 | 61 | 9823 | CCCTGGCTGCTGCCTCGGCCCCTTCAGCTT | T/G | GGCTTCCTGTCCATGTGCCCACGCCCCGCA | 1 | TESK1|Change amino acid:a | SANGERun|bE97C14 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208065 | 25582 | 61 | 9823 | CCTGGAGCGGACAGAACCCTCCCCACCCCC | T/G | GCAGCTCCCCGGGAGTCCGAGGAGGGGCTG | 1 | TESK1|Change amino acid:s | SANGERun|bE97C14 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208066 | 25648 | 61 | 9823 | CCCTGGCTGCTGCCTCGGCCCCTTCAGCTT | T/G | GGCTTCCTGTCCATGTGCCCACGCCCCGCA | 1 | TESK1|Change amino acid:a | SANGERun|bE97C14 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208067 | 25569 | 61 | 9823 | CCTGGAGCGGACAGAACCCTCCCCACCCCC | T/G | GCAGCTCCCCGGGAGTCCGAGGAGGGGCTG | 1 | TESK1|Change amino acid:s | SANGERun|bE97C14 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208068 | 25637 | 61 | 9823 | CCCTGGCTGCTGCCTCGGCCCCTTCAGCTT | T/G | GGCTTCCTGTCCATGTGCCCACGCCCCGCA | 1 | TESK1|Change amino acid:a | SANGERun|bE97C14 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208069 | 104218 | 61 | 9823 | CTGGCCATGGGTGCAGACCGTGGCATCCAT | T/G | TGGAGGTGCCGGCTGCAGAGGCGCATCACC | 6 | ETFB|Change amino acid:a | SANGERun|bE204P3 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208071 | 110796 | 61 | 9823 | AAAACTCATGCAGTGTCTCCCAAACCTGGA | A/G | GAGATAAAATTGGCCCTGGAGCTGTATAAG | 9 | C4BPA|Change amino acid:s | SANGERun|bE391L17 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208091 | 11946 | 61 | 9823 | TCATCCGCGTGCCCCAGAAAGAGGACACCC | T/G | GTGCTTCAATATCAACGAGGAGCCTGGTGT | 13 | ITIH1|Change amino acid:a | SANGERun|bE511E20 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208092 | 11948 | 61 | 9823 | ATCCGCGTGCCCCAGAAAGAGGACACCCTG | T/G | GCTTCAATATCAACGAGGAGCCTGGTGTGG | 13 | ITIH1|Change amino acid:a | SANGERun|bE511E20 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208100 | 146933 | 61 | 9823 | GGAGAATGTGTTACGAAACCTAGCAGACAA | A/G | GCCTTTGACCGGCCCATTTGTGAGGCCCTC | 7 | NEIL1|Change amino acid:s | SANGERun|bE196K6 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208105 | 29084 | 61 | 9823 | CCGCATCGGGTCGGCCGAGGTGGAGAAACC | T/C | GCGGGCCTTCTGTTCCAGCCGCCGGATCTG | 14 | TACC2|Change amino acid:s | SANGERun|bE230N19 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208106 | 29065 | 61 | 9823 | GTGGAGAAACCTGCGGGCCTTCTGTTCCAG | A/C | CGCCGGATCTGGACTCTGCACTCCAGATCG | 14 | TACC2|Change amino acid:a | SANGERun|bE230N19 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208108 | 120887 | 61 | 9823 | TGGCTTTTTCTCAAGCATTTTCTCCAGTCT | T/G | TTCGGAACCCGGGAAATGAGGATTTTAATT | 5 | ARL1|Change amino acid:s | SANGERun|bE24K9 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208109 | 120855 | 61 | 9823 | TCGGAACCCGGGAAATGAGGATTTTAATTT | T/G | GGGATTAGATGGAGCAGGAAAAACTACAAT | 5 | ARL1|Change amino acid:a | SANGERun|bE24K9 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208110 | 59271 | 61 | 9823 | CGCGGCGCGGGCCGGCCTCCACTTCCGCCC | C/G | GGCTGCAGCTGCTACCGGCCCCTGCGCGGG | 17 | |Change amino acid:s | SANGERas|bE247L10 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208111 | 116906 | 61 | 9823 | ATTTAATGTTGAGACGGTAACATACAAGAA | T/C | CTTAAATTCCAAGTCTGGGATTTAGGAGGA | 5 | ARL1|Change amino acid:s | SANGERun|bE24K9 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208112 | 59790 | 61 | 9823 | ATGAGTACCTGTCCCCATCGGATCTGCCCA | A/G | GAGCTGGGACTGGCGCAACGTGAATGGGGT | 17 | |Change amino acid:a | SANGERas|bE247L10 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208114 | 63075 | 61 | 9823 | GGGGGGCGACGACCTGCCCGTGTGGGCCTA | T/C | GCCCACCGGCACGGCATCCCGGATGAGACC | 17 | |Change amino acid:s | SANGERas|bE247L10 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208115 | 64650 | 61 | 9823 | CAAAGAATGCCACGTCATCCAGAACTACAC | T/C | CTCTGGAAGGTTGGCGACTACGGCTCCGTC | 17 | |Change amino acid:s | SANGERas|bE247L10 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208118 | 66352 | 61 | 9823 | CGGGGCCCTCACTTCCTCCTCACTGTTGGC | A/G | AAAATGAGAGCAAGAAACCACCTGATTTTG | 14 | PGBD3|Change amino acid:s | SANGERun|bE381G23 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208119 | 66418 | 61 | 9823 | GCGCTTAGAAAGTGAGAGTGGGCACGTTCC | A/G | GAGGCCTCTGCCCCGCTGCCCTCCAGCACG | 14 | PGBD3|Change amino acid:s | SANGERun|bE381G23 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208120 | 66352 | 61 | 9823 | CGGGGCCCTCACTTCCTCCTCACTGTTGGC | A/G | AAAATGAGAGCAAGAAACCACCTGATTTTG | 14 | PGBD3|Change amino acid:s | SANGERun|bE381G23 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208121 | 66418 | 61 | 9823 | GCGCTTAGAAAGTGAGAGTGGGCACGTTCC | A/G | GAGGCCTCTGCCCCGCTGCCCTCCAGCACG | 14 | PGBD3|Change amino acid:s | SANGERun|bE381G23 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208122 | 181795 | 61 | 9823 | GATCCGGTTACTGCAGTTCGTCACCGGGAC | A/G | TCCCGAGTACCTATGAATGGATTTGCCGAG | 1 | NEDD4L|Change amino acid:s | SANGERun|bE134P7 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208131 | 148218 | 61 | 9823 | TGTGGATGTGGTACACATGGATGAAAACTC | T/C | CTGGAGTTCGACATGGTGGGAATTGACGCA | 7 | POLR1C|Change amino acid:s | SANGERun|bE393J3 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208133 | 116798 | 61 | 9823 | CGGCAACAACTGGGCCAAGGGCCACTACAC | A/G | GAGGGCGCCGAGCTGGTGGACTCGGTCCTG | 7 | TUBB2A|Change amino acid:s | SANGERun|bE81A10 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208134 | 116758 | 61 | 9823 | GGTGGACTCGGTCCTGGACGTGGTCAGGAA | A/G | GAGTCAGAGAGCTGTGACTGTCTGCAGGGC | 7 | TUBB2A|Change amino acid:s | SANGERun|bE81A10 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208135 | 116691 | 61 | 9823 | GACCCACTCGCTGGGGGGCGGCACGGGTTC | C/G | GGGATGGGCACCCTGCTCATCAGCAAGATC | 7 | TUBB2A|Change amino acid:s | SANGERun|bE81A10 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208136 | 97082 | 61 | 9823 | CCCTGCAGTTTCGGCTGCAGGTCAGGTGCA | T/C | TCGGAACCCCAGTGCTGCAAAAGATTCCTC | 7 | POLR1C|Change amino acid:a | SANGERas|bI52G3 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208137 | 97086 | 61 | 9823 | GCAGTTTCGGCTGCAGGTCAGGTGCACTCG | T/G | AACCCCAGTGCTGCAAAAGATTCCTCTGAC | 7 | POLR1C|Change amino acid:s | SANGERas|bI52G3 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208138 | 149190 | 61 | 9823 | CAGGCTGATCTCTTCCCGGAGGGCACCATC | T/C | GCCCCGTGCACGACGACATCCTCATTGCTC | 7 | POLR1C|Change amino acid:a | SANGERun|bE393J3 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208139 | 149737 | 61 | 9823 | GGTGGCCAGAGTTGCCAATCCCCGGCTGGA | T/C | ACCTTCAGCAGGGAAGTCTTCCGGAATGAC | 7 | POLR1C|Change amino acid:s | SANGERun|bE393J3 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208140 | 149769 | 61 | 9823 | CCTTCAGCAGGGAAGTCTTCCGGAATGACA | A/T | GCTGAAGAAGGTCGTGCGGCTCGCTCGCGT | 7 | POLR1C|Change amino acid:a | SANGERun|bE393J3 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208142 | 30625 | 61 | 9823 | GGTGAAGGAGGTGTGTGGAGCTGTGTCCCG | T/G | CGGGCGGCCCAGCTCTATGGCGCTGGCCTG | 14 | HKDC1|Change amino acid:s | SANGERun|bE62M1 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208143 | 30619 | 61 | 9823 | GGAGGTGTGTGGAGCTGTGTCCCGTCGGGC | A/G | GCCCAGCTCTATGGCGCTGGCCTGGCCGCC | 14 | HKDC1|Change amino acid:s | SANGERun|bE62M1 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208146 | 118645 | 61 | 9823 | CAGTGACCGTGCCTGGGTCTGGAACACCCA | T/C | GCTGACTTCGCCGACGAGTGCCCCAAGCAG | 14 | RANBP1|Change amino acid:s | SANGERun|bE178J1 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208153 | 130599 | 61 | 9823 | TTTCCTAATTTCACACAACTACGAACGAAC | T/G | GCTGTTTTCTTCCACACTCACTTTCCGGAG | 1 | PIGB|Change amino acid:s | SANGERun|bE20A9 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208154 | 130602 | 61 | 9823 | CCTAATTTCACACAACTACGAACGAACTGC | T/G | GTTTTCTTCCACACTCACTTTCCGGAGCAT | 1 | PIGB|Change amino acid:s | SANGERun|bE20A9 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208155 | 22637 | 61 | 9823 | AGGCGAGTATCAGAGGATGGGCGTGATGTC | A/G | AGTCCGACGGAGAATTCTTTTACCCTGGAT | 3 | RRM2|Change amino acid:s | SANGERun|bE244M8 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208156 | 22628 | 61 | 9823 | TCAGAGGATGGGCGTGATGTCAAGTCCGAC | C/G | GAGAATTCTTTTACCCTGGATGCCGACTTC | 3 | RRM2|Change amino acid:s | SANGERun|bE244M8 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208157 | 26762 | 61 | 9823 | TACCATCATCTACCAGTACTTTGAGATCTT | T/G | GTAAAGGAGCAGAGCGAGGTTGGCAGCATG | 13 | SEC61A1|Change amino acid:a | SANGERun|bE298L24 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208162 | 154090 | 61 | 9823 | ACTTGTTGCTCCCTATTCTGCAAGCAAGTT | T/G | GCTCTGGACGGGTTCTTCTCCTCTATCAGG | 9 | HSD11B1|Change amino acid:a | SANGERun|bE502F19 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208165 | 19012 | 61 | 9823 | TGTGTAGTACAGGATGTGGCTTTTATGGGA | A/C | TCCTAGGACAAATGGAATGTGTTCTGTTTG | 1 | ZFAND5|Change amino acid:a | SANGERun|bE467O18 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208170 | 3995 | 61 | 9823 | GACTATCGGCCTTCGGGAAGTGTGGTACTT | T/G | GGCCTCCAGTATGTGGATAACAAAGGATTT | 1 | VIL2|Change amino acid:a | SANGERun|bE519K4 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208171 | 49521 | 61 | 9823 | CGGGATTCTCAGCGACGAGATCTACTGCCC | A/G | CCCGAGACCGCGGTGCTCCTGGGCTCCTAC | 1 | VIL2|Change amino acid:s | SANGERun|bE100E21 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208172 | 49454 | 61 | 9823 | CAGGCCAAGTTCGGAGACTACAACAAAGAG | A/C | TGCACAAGTCCGGCTACCTCGGCTCTGAGC | 1 | VIL2|Change amino acid:a | SANGERun|bE100E21 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208173 | 1413 | 61 | 9823 | ATCAACTCCAAGCCAAAGGTCTGTTCCTTT | A/G | TTATTTTTTATCTCAAAGTAGTTGATTCCA | 1 | VIL2|Change amino acid:s | SANGERun|bE519K4 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208174 | 1416 | 61 | 9823 | AACTCCAAGCCAAAGGTCTGTTCCTTTCTT | A/T | TTTTTTATCTCAAAGTAGTTGATTCCATAC | 1 | VIL2|Change amino acid:a | SANGERun|bE519K4 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208175 | 162016 | 61 | 9823 | GCCCCCGCCGCCGCCCCCGGTCTACGAGCC | T/C | GTGAGCCTGCACGTGCAGGAGAGCCCGCCG | 1 | VIL2|Change amino acid:s | SANGERun|bE100E21 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208185 | 180781 | 61 | 9823 | CACATCTTACAGATACGGAGATTATGACTT | T/G | GGTAGATGAGACCAACATGTATGAAGGTGT | 2 | PFDN1|Change amino acid:a | SANGERun|bE391J6 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208189 | 159319 | 61 | 9823 | GCGAGCAAAGCGGAAGCTGGAGGGTGACCT | A/G | AAGCTGACCCAGGAGAGCATCATGGACCTG | 7 | MYH7_HUMAN|Change amino acid:s | SANGERun|bE116C14 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208190 | 159283 | 61 | 9823 | GACCCAGGAGAGCATCATGGACCTGGAGAA | T/C | GACAAGCAGCAGCTGGACGAGCGACTAAAA | 7 | MYH7_HUMAN|Change amino acid:s | SANGERun|bE116C14 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208191 | 65538 | 61 | 9823 | GGTTTTCTCCAACCTCCGCTGTGGCACACC | A/G | GAAGAGCCCTGTCGGGAAGCCTTCAACCAG | 7 | LYG6C_HUMAN|Change amino acid:s | SANGERas|bS35B1 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208196 | 126924 | 61 | 9823 | GGAGGCGCGCTCACTCAGCACCGAGCTCTT | T/C | AAGCTCAAGAACGCCTATGAGGAGTCTCTG | 7 | MYH7_HUMAN|Change amino acid:s | SANGERun|bE116C14 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208197 | 154048 | 61 | 9823 | CAGTGGAAAGACCATCCATGAGCTGGAGAA | A/G | GTCCGCAAGCAGCTGGAGGCAGAGAAGCTG | 7 | MYH7_HUMAN|Change amino acid:s | SANGERun|bE116C14 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208198 | 154028 | 61 | 9823 | AGCTGGAGAAAGTCCGCAAGCAGCTGGAGG | T/C | AGAGAAGCTGGAGCTGCAGTCGGCCCTGGA | 7 | MYH7_HUMAN|Change amino acid:a | SANGERun|bE116C14 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208199 | 154027 | 61 | 9823 | GCTGGAGAAAGTCCGCAAGCAGCTGGAGGC | A/G | GAGAAGCTGGAGCTGCAGTCGGCCCTGGAA | 7 | MYH7_HUMAN|Change amino acid:s | SANGERun|bE116C14 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208201 | 153360 | 61 | 9823 | CCAGATCAAGGCAGAGATGGAGCGGAAGCT | A/G | GCCGAGAAGGATGAGGAGATGGAACAGGCC | 7 | MYH7_HUMAN|Change amino acid:s | SANGERun|bE116C14 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208202 | 153358 | 61 | 9823 | AGATCAAGGCAGAGATGGAGCGGAAGCTGG | T/C | CGAGAAGGATGAGGAGATGGAACAGGCCAA | 7 | MYH7_HUMAN|Change amino acid:a | SANGERun|bE116C14 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208203 | 153357 | 61 | 9823 | GATCAAGGCAGAGATGGAGCGGAAGCTGGC | C/G | GAGAAGGATGAGGAGATGGAACAGGCCAAA | 7 | MYH7_HUMAN|Change amino acid:s | SANGERun|bE116C14 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208204 | 153354 | 61 | 9823 | CAAGGCAGAGATGGAGCGGAAGCTGGCCGA | A/G | AAGGATGAGGAGATGGAACAGGCCAAACGC | 7 | MYH7_HUMAN|Change amino acid:s | SANGERun|bE116C14 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208205 | 153251 | 61 | 9823 | GCAGAGACACGCAGCCGCAATGAGGCCCTG | A/C | GGGTGAAGAAGAAGATGGAGGGCGACCTCA | 7 | MYH7_HUMAN|Change amino acid:s | SANGERun|bE116C14 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208206 | 153177 | 61 | 9823 | CCAGCTCAGCCACGCCAATCGCATGGCCGC | T/C | GAGGCCCAGAAGCAAGTCAAGAGCCTGCAG | 7 | MYH7_HUMAN|Change amino acid:s | SANGERun|bE116C14 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208207 | 152751 | 61 | 9823 | GACAGAGAGGTCCCGGAAGCTGGCTGAGCA | A/G | GAGCTGATTGAGACCAGCGAGCGGGTGCAG | 7 | MYH7_HUMAN|Change amino acid:s | SANGERun|bE116C14 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208208 | 152496 | 61 | 9823 | AGTGGAGGAGGCGGTGCAGGAGTGCAGGAA | T/C | GCCGAGGAGAAGGCCAAGAAGGCCATCACG | 7 | MYH7_HUMAN|Change amino acid:s | SANGERun|bE116C14 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208215 | 150794 | 61 | 9823 | GCAGCACGAGCTGGATGAGGCGGAGGAGCG | A/G | GCGGACATCGCTGAGTCCCAGGTCAACAAG | 7 | MYH7_HUMAN|Change amino acid:s | SANGERun|bE116C14 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208227 | 142067 | 61 | 9823 | CGACTGGCCTTGAGGTTGAAGTTGTTGCCC | T/G | CGATGACAGGCGTGGACCCCGAGCCGAAGC | 17 | JAG1|Change amino acid:a | SANGERun|bE37O22 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208228 | 125146 | 61 | 9823 | GGAGATTCTTCACTCCAGATTTCCAATGCC | A/G | AGGTACATTGACACTGAACATGGAGGCAGC | 7 | SEC23A|Change amino acid:s | SANGERun|bE110D10 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208235 | 3728 | 61 | 9823 | TATCAGTGGAATTTGATGGAAAGAGATAGG | T/C | GCATCTCTGGAGTTAATCGTTACCATGTGA | 14 | NDUFA1|Change amino acid:a | SANGERun|bE143C2 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208248 | 85742 | 61 | 9823 | CTGCTCCCGAGATGACACCCTCAAAGTCAT | T/C | GACCTGCGCGTCAGCAACATCCGCCAGGTG | 9 | ATG16L2|Change amino acid:s | SANGERun|bE349P16 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208250 | 84990 | 61 | 9823 | CGTGGCCTGGTGCTACTCCGGGAGCCACGT | A/G | GCGAGCGTGGACCAGGCCAGGAAGCTTGTG | 9 | ATG16L2|Change amino acid:s | SANGERun|bE349P16 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000208107 | 5195 | 60 | 9823 | GAGGATGAACAGAGGGAGAAGTCAGTCTC | A/C | CACCAGACGGTCCAGCAGCTGGTCCTGGAG | 14 | TACC2|Change amino acid:s | SANGERun|bE451H10 | Miguel Perez (PIGGIS) | 59 / 50 | ||||||
| BGISUSV0000208168 | 8958 | 60 | 9823 | ATCAACGTCCGAGTTACCACCATGGATGC | A/G | GAGCTGGAGTTTGCCATCCAGCCAAACACA | 1 | VIL2|Change amino acid:s | SANGERun|bE519K4 | Miguel Perez (PIGGIS) | 59 / 50 | ||||||
| BGISUSV0000208093 | 14233 | 58 | 9823 | CCTGGGCTTTTACGTGCTGGATAGTCACCG | T/G | ATGTCAGCACGGACACATGGACTGCTG | 13 | ITIH1|Change amino acid:s | SANGERun|bE511E20 | Miguel Perez (PIGGIS) | 57 / 50 | ||||||
| BGISUSV0000208184 | 108557 | 58 | 9823 | GATGATGAGGCACCCCATGGTCAAGAG | T/G | CAGATCTCTTCTCTGAAACTAGCAGTGTCA | 1 | IKBKAP|Change amino acid:a | SANGERun|bE321N10 | Miguel Perez (PIGGIS) | 57 / 50 | ||||||
| BGISUSV0000208147 | 118607 | 56 | 9823 | TCGCCGACGAGTGCCCCAAGCAGGAGCTGC | T/G | GGCCATTCGCTTCCTTAACGCCGAG | 14 | RANBP1|Change amino acid:a | SANGERun|bE178J1 | Miguel Perez (PIGGIS) | 55 / 50 | ||||||
| BGISUSV0000208169 | 23311 | 56 | 9823 | GGGTTTGACTGCCGATGTGGAAATT | T/G | GTTTTGTGGACTTCACCGTTACTCTGACAA | 1 | ZFAND5|Change amino acid:a | SANGERun|bE467O18 | Miguel Perez (PIGGIS) | 55 / 50 | ||||||
| BGISUSV0000208132 | 116818 | 55 | 9823 | GGCCAGAGCGGTGCCGGCAACAAC | T/G | GGGCCAAGGGCCACTACACAGAGGGCGCCG | 7 | TUBB2A|Change amino acid:a | SANGERun|bE81A10 | Miguel Perez (PIGGIS) | 54 / 50 | ||||||
| BGISUSV0000208144 | 120116 | 54 | 9823 | ATGCGGGCAAAGCTCTTCCGGTT | T/G | GCTTCAGAGAACGACCTCCCAGAGTGGAAG | 14 | RANBP1|Change amino acid:a | SANGERun|bE178J1 | Miguel Perez (PIGGIS) | 53 / 50 | ||||||
| BGISUSV0000208141 | 98152 | 53 | 9823 | TGGGGAAGTGCCGGCGGTTCCTGGATGAAT | T/G | GGACGCAGTTCAGATGGATTGA | 7 | POLR1C|Change amino acid:a | SANGERas|bI52G3 | Miguel Perez (PIGGIS) | 52 / 50 | ||||||
| BGISUSV0000208233 | 70388 | 53 | 9823 | TCCTAAATGCACTGAATCTGAGTATGATTC | A/G | GCAAATCTACCCACAGCTAAAG | 15 | HIBCH|Change amino acid:a | SANGERun|bE213N14 | Miguel Perez (PIGGIS) | 52 / 50 | ||||||
| BGISUSV0000208249 | 85339 | 53 | 9823 | TACATCTGGGACGTGGACACTGGGAAGCTG | T/G | AGAGCAGCCTCCGGGGACCCCA | 9 | ATG16L2|Change amino acid:s | SANGERun|bE349P16 | Miguel Perez (PIGGIS) | 52 / 50 | ||||||
| BGISUSV0000208070 | 101421 | 52 | 9823 | TGACTGTAACCAGACAGGCCAGATGACAGC | T/C | GGATTTCTGGACTGGCCACAG | 6 | ETFB|Change amino acid:s | SANGERun|bE204P3 | Miguel Perez (PIGGIS) | 51 / 50 | ||||||
| BGISUSV0000208113 | 59884 | 51 | 9823 | CCCCCAGTACTGCGGCTCCTGCTGGGCCCA | T/C | GGCAGCACCAGCGCCATGGC | 17 | |Change amino acid:s | SANGERas|bE247L10 | Miguel Perez (PIGGIS) | 50 / 50 | ||||||
| BGISUSV0000208243 | 54783 | 51 | 9823 | GAGTGGGTTCAGATGGCTCC | A/G | ACTCTATTTTCTAAATTTATTCCAAACATT | 14 | |Change amino acid:s | SANGERun|bE72A15 | Miguel Perez (PIGGIS) | 50 / 50 | ||||||
| BGISUSV0000208055 | 142936 | 49 | 9823 | TGCCCTGGAGAGGCTGGAAACCAAGCTTCA | T/C | CTCCTCCGGCAAGAGATG | 1 | C9orf150|Change amino acid:s | SANGERun|bE341J3 | Miguel Perez (PIGGIS) | 48 / 50 | ||||||
| BGISUSV0000208060 | 79956 | 48 | 9823 | GTGTATGTGGTGGAAGA | T/C | CAAAGGAGGGATGACCTGGGCCCCTCCACC | 2 | C5orf32|Change amino acid:s | SANGERun|bE200N5 | Miguel Perez (PIGGIS) | 47 / 50 | ||||||
| BGISUSV0000208104 | 171337 | 48 | 9823 | CATCGTGGGGGCCGTAACAGCGGCCTCTGC | A/G | AACACTCAGCAGTATGG | 7 | RHCG|Change amino acid:s | SANGERun|bE241C8 | Miguel Perez (PIGGIS) | 47 / 50 | ||||||
| BGISUSV0000208151 | 26729 | 48 | 9823 | GCCCCCAGCGTGGAGGA | C/G | GAGCCGCTCCTGAGAGAAAACCCCCGGCGC | 3 | RRM2|Change amino acid:a | SANGERun|bE244M8 | Miguel Perez (PIGGIS) | 47 / 50 | ||||||
| BGISUSV0000208166 | 19556 | 45 | 9823 | GGGACAGCTAGTGG | T/C | TCCAACAGTCCTACCTCAGATTCTGCATCT | 1 | ZFAND5|Change amino acid:s | SANGERun|bE467O18 | Miguel Perez (PIGGIS) | 44 / 50 | ||||||
| BGISUSV0000208186 | 77822 | 45 | 9823 | GAGGACAATATCCGGGAGATGCTGATGGCA | T/C | GGAGGGCACAGTAG | 2 | PFDN1|Change amino acid:a | SANGERun|bE200N5 | Miguel Perez (PIGGIS) | 44 / 50 | ||||||
| BGISUSV0000208116 | 64719 | 40 | 9823 | GGAGAAGATGATGGCTGAAATCTACGCCAA | T/C | GGGCCCATC | 17 | |Change amino acid:s | SANGERas|bE247L10 | Miguel Perez (PIGGIS) | 39 / 50 | ||||||
| BGISUSV0000208200 | 153997 | 40 | 9823 | AGAGAAGCTGGAGCTGCAGTCGGCCCTGGA | A/G | GAGGCCGAG | 7 | MYH7_HUMAN|Change amino acid:s | SANGERun|bE116C14 | Miguel Perez (PIGGIS) | 39 / 50 | ||||||
| BGISUSV0000208090 | 10579 | 39 | 9823 | GGATGAAG | T/C | TGGAGGGGGCGGAGAAGGCCAGTGTTTCGG | 13 | ITIH1|Change amino acid:s | SANGERun|bE511E20 | Miguel Perez (PIGGIS) | 38 / 50 | ||||||
| BGISUSV0000208099 | 112628 | 39 | 9823 | GGTTTCTT | T/G | GGGAGTATATTTGGATTAATGGGTGTATAT | 4 | SLC35A3|Change amino acid:a | SANGERun|bE295D24 | Miguel Perez (PIGGIS) | 38 / 50 | ||||||
| BGISUSV0000208117 | 66460 | 39 | 9823 | GGTGAGCG | A/G | GGCTGGATGAGGATTGTGACCAGCACCTAC | 17 | |Change amino acid:s | SANGERas|bE247L10 | Miguel Perez (PIGGIS) | 38 / 50 | ||||||
| BGISUSV0000208167 | 20284 | 39 | 9823 | AGAAATGT | T/G | CCTGTGGCTGCCTTGCCTGTAACTCAGCAA | 1 | ZFAND5|Change amino acid:s | SANGERun|bE467O18 | Miguel Perez (PIGGIS) | 38 / 50 |
100 Rows queried.