The Ion Channel project is a large-scale study of DNA sequence variation in 237 ion channel subunit genes derived from up to 500 individuals with epilepsy and 500 matched controls. DNA samples are derived from patients evaluated for epilepsy at the Texas Medical Center, as well as family and non-family-based control samples obtained from persons without history of neurological disease.
DNA sequencing is confined to the coding regions of target genes by PCR amplification of exon sequences from the genomes of individual subjects using specially designed primers. Each amplified product from each individual is then sequenced by standard Sanger sequencing methods. The DNA sequences are then compared to the reference human genome sequence (NCBI, Build 36) using the program SNPdetector v. 3. As of October 2007, we have analyzed 4,510 exon sequences from 237 genes with an average coverage of 150 people.
The results in the table on this page show the variants discovered by the SNPdetector software. A large sampling of the polymorphisms leading to amino acid changes have been validated by custom genotyping assay using Affymetrix MIP technology.
This data is being released ahead of final validation for the interest of the scientific community. It will be updated periodically and be submitted to dbSNP at the National Center for Biotechnology Information as new data become available.
The project is supported by research grants from the National Institute of Neurological Disorders and Stroke (NINDS) and the National Human Genome Research Institute (NHGRI).
Caution: Since the table below is extremely large (more than 13,000 rows), your browser may take several seconds to load all the rows.
| SNP ID | Chr | Coord | Str | Flank sequence | dbSNP ID | Allele | Valid | SNP type | Accession | Gene | Codon | New codon | Protein pos | Ref codon | Codon pos | Exon pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EP_151749_114_SD3_13 | chr20 | 44096931 | + | TACACCACTG.ATGCCCAGGT | novel | A/T | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151749_351_SD3_13 | chr20 | 44097168 | + | CCCTCCCTAG.GAGCAATACC | novel | G/A | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151749_65_SD3_13 | chr20 | 44096882 | + | AGCCCCATTT.CCCAATGCGC | rs11699481 | T/C | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151752_378_SD3_13 | chr20 | 44109795 | + | AAGATGGGGG.TGGGAGCAGA | novel | G/A | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151752_399_SD3_13 | chr20 | 44109816 | + | GGCTTTGAGA.ATGGACAGGA | novel | A/T | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151755_37_SD3_13 | chr2 | 165953939 | + | TCTGAGTGAG.ATGACTTTGA | novel | G/A | unknown | coding_nonsynon | NM_001040142 | SCN2A2 | Asp | Asn | 1793 | GAT | 1 | N/A |
| EP_151755_37_SD3_13 | chr2 | 165953939 | + | TCTGAGTGAG.ATGACTTTGA | novel | G/A | unknown | coding_nonsynon | NM_021007 | SCN2A2 | Asp | Asn | 1793 | GAT | 1 | N/A |
| EP_151755_37_SD3_13 | chr2 | 165953939 | + | TCTGAGTGAG.ATGACTTTGA | novel | G/A | unknown | coding_nonsynon | NM_001040143 | SCN2A2 | Asp | Asn | 1793 | GAT | 1 | N/A |
| EP_151764_26_SD3_13 | chr20 | 44097355 | + | GAATAGTTTC.TGCTCCTTGT | novel | A/G | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151764_291_SD3_13 | chr20 | 44097620 | + | AGAAAAGGGA.GGATGGGGGG | rs2868365 | C/T | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151764_380_SD3_13 | chr20 | 44097709 | + | GAGGGATGAA.GGTTGAGAAT | novel | G/A | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151764_388_SD3_13 | chr20 | 44097717 | + | AAGGGTTGAG.ATAGAGAGAA | rs3848723 | A/G | by-cluster_by-frequency | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151764_395_SD3_13 | chr20 | 44097724 | + | GAGAATAGAG.GAAGAGGAAG | novel | A/G | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151764_449_SD3_13 | chr20 | 44097778 | + | CTGGGGTGTT.GTAATGATGA | rs3746515 | C/T | by-cluster_by-frequency_by-2hit-2allele | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151764_85_SD3_13 | chr20 | 44097414 | + | CCACTTGCTC.CCCAGCCTCC | novel | C/T | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151767_236_SD3_13 | chr20 | 44110134 | + | AACTGGAGGT.AGTGGTGAGG | rs12481488 | T/A | by-frequency_by-2hit-2allele | splice_region | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151767_286_SD3_13 | chr20 | 44110184 | + | TGAGTGCAAG.CTCAGGAGAC | rs12480008 | G/C | by-cluster_by-frequency | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151779_176_SD3_13 | chr20 | 44097709 | + | GAGGGATGAA.GGTTGAGAAT | novel | G/A | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151779_184_SD3_13 | chr20 | 44097717 | + | AAGGGTTGAG.ATAGAGAGAA | rs3848723 | A/G | by-cluster_by-frequency | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151779_191_SD3_13 | chr20 | 44097724 | + | GAGAATAGAG.GAAGAGGAAG | novel | A/G | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151779_245_SD3_13 | chr20 | 44097778 | + | CTGGGGTGTT.GTAATGATGA | rs3746515 | C/T | by-cluster_by-frequency_by-2hit-2allele | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151779_365_SD3_13 | chr20 | 44097898 | + | CCTCTTCCTG.GGCTCACCTG | rs3848724 | C/A | by-cluster_by-frequency | coding_synon | NM_020708 | SLC12A5 | Arg | Arg | 119 | CGG | 1 | N/A |
| EP_151779_367_SD3_13 | chr20 | 44097900 | + | TCTTCCTGCG.CTCACCTGGG | novel | G/T | unknown | coding_synon | NM_020708 | SLC12A5 | Arg | Arg | 119 | CGG | 3 | N/A |
| EP_151779_87_SD3_13 | chr20 | 44097620 | + | AGAAAAGGGA.GGATGGGGGG | rs2868365 | C/T | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151791_36_SD3_13 | chr20 | 44098735 | + | CCCCACCCAG.CCACTGCGGC | novel | G/A | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151794_223_SD3_13 | chr20 | 44113819 | + | TGATCCAGTC.GGGGGCCTCG | rs3746522 | C/T | by-cluster_by-frequency | coding_synon | NM_020708 | SLC12A5 | Ser | Ser | 760 | TCC | 3 | N/A |
| EP_151794_235_SD3_13 | chr20 | 44113831 | + | GGGGCCTCGG.GGGCTGCAGC | novel | G/T | unknown | coding_synon | NM_020708 | SLC12A5 | Gly | Gly | 764 | GGG | 3 | N/A |
| EP_151794_304_SD3_13 | chr20 | 44113900 | + | ATCATCAGAC.TGGAGGAACT | rs17344810 | G/A | by-frequency | coding_synon | NM_020708 | SLC12A5 | Thr | Thr | 787 | ACG | 3 | N/A |
| EP_151794_392_SD3_13 | chr20 | 44113988 | + | ACTGGATTTC.GCTCCTTTGG | rs4812988 | C/T | by-frequency | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151800_117_SD3_13 | chr2 | 165704245 | + | GCACCACCAC.GAAACGGAAG | novel | T/A | unknown | coding_synon | NM_006922 | SCN3A | Thr | Thr | 677 | ACA | 3 | N/A |
| EP_151806_177_SD3_13 | chr20 | 44099282 | + | CTCTCGCTGA.ACCAGATTCT | novel | T/C | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151806_191_SD3_13 | chr20 | 44099296 | + | AGATTCTCCC.GCAGCTGGTG | novel | T/C | unknown | splice_region | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151806_248_SD3_13 | chr20 | 44099353 | + | AGTTTGGGGG.GCCGTGGGCC | rs3746519 | T/C | by-cluster_by-frequency | coding_synon | NM_020708 | SLC12A5 | Gly | Gly | 178 | GGT | 3 | N/A |
| EP_151806_395_SD3_13 | chr20 | 44099500 | + | TCCCTGGACA.CTCCTATAGG | novel | C/T | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151821_445_SD3_13 | chr20 | 44102819 | + | TTAGTTTGGG.GCAATCTCTT | novel | G/C | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151836_274_SD3_13 | chr20 | 44103621 | + | ATCCAGGGAA.GCTGCAGGGA | novel | C/T | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151836_60_SD3_13 | chr20 | 44103407 | + | ACGCTGTCTC.CCATGGCTTT | novel | G/A | unknown | coding_nonsynon | NM_020708 | SLC12A5 | Arg | His | 296 | CGC | 2 | N/A |
| EP_151854_276_SD3_13 | chr20 | 44118385 | + | AAGGACTCAA.TGCCATCGCT | rs2297201 | C/T | by-cluster_by-frequency | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151860_167_SD3_13 | chr2 | 165692690 | + | TTCTGAACCT.TTTCTGGCCT | novel | C/T | unknown | coding_synon | NM_006922 | SCN3A | Leu | Leu | 978 | CTC | 3 | N/A |
| EP_151863_127_SD3_13 | chr2 | 165655580 | + | AAATTACAAC.TCTGCTGGCT | novel | A/C | unknown | coding_nonsynon | NM_006922 | SCN3A | Ala | Ser | 1777 | GCT | 1 | N/A |
| EP_151863_202_SD3_13 | chr2 | 165655655 | + | ACACAATTCA.CCTGGCAGCT | novel | C/T | unknown | coding_synon | NM_006922 | SCN3A | His | His | 1732 | CAC | 3 | N/A |
| EP_151863_232_SD3_13 | chr2 | 165655685 | + | GAGACTGTGG.AACCCATCTG | novel | G/T | unknown | coding_nonsynon | NM_006922 | SCN3A | Gly | Arg | 1742 | GGG | 1 | N/A |
| EP_151863_79_SD3_13 | chr2 | 165655532 | + | ACATGTTCAA.TTTGAGACCT | novel | C/T | unknown | coding_synon | NM_006922 | SCN3A | Asn | Asn | 1691 | AAC | 3 | N/A |
| EP_151866_363_SD3_13 | chr20 | 44106014 | + | TTCTGGGGGA.GGGTGGGTAT | novel | G/A | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151866_437_SD3_13 | chr20 | 44106088 | + | AGGGGCCTGT.GGAGGGAGGC | rs3746520 | G/A | by-frequency | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151869_283_SD3_13 | chr20 | 44118572 | + | CCAGTCCTGT.TCCTCTGAGG | novel | C/T | unknown | coding_synon | NM_020708 | SLC12A5 | Val | Val | 1024 | GTC | 3 | N/A |
| EP_151869_96_SD3_13 | chr20 | 44118385 | + | AAGGACTCAA.TGCCATCGCT | rs2297201 | C/T | by-cluster_by-frequency | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151872_143_SD3_13 | chr2 | 165728425 | + | CCTAGGCAAT.TTTCAGCCCT | novel | G/A | unknown | coding_synon | NM_006922 | SCN3A | Leu | Leu | 215 | TTG | 1 | N/A |
| EP_151872_220_SD3_13 | chr2 | 165728502 | + | AGAAACTGGT.TAAGGTAGTA | novel | G/A | unknown | intron | NM_006922 | SCN3A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151881_207_SD3_13 | chr20 | 44107129 | + | AGAGCCTCAC.GGGGCCCCAC | novel | G/A | unknown | coding_synon | NM_020708 | SLC12A5 | Thr | Thr | 504 | ACG | 3 | N/A |
| EP_151881_31_SD3_13 | chr20 | 44106953 | + | GTATGGAGAC.TGCCCTGGAA | rs2297197 | C/G | by-submitter | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151884_110_SD3_13 | chr20 | 44118886 | + | GTGTCTTCCT.TTTTTCTGAC | novel | C/T | unknown | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151893_168_SD3_13 | chr2 | 165654993 | + | AAACTAAATG.GAACTCCACT | novel | A/G | unknown | coding_nonsynon | NM_006922 | SCN3A | Gly | Glu | 1951 | GGG | 2 | N/A |
| EP_151893_175_SD3_13 | chr2 | 165655000 | + | ATGGGAACTC.ACTCCAGAAA | novel | C/T | unknown | coding_synon | NM_006922 | SCN3A | Ser | Ser | 1953 | TCC | 3 | N/A |
| EP_151896_328_SD3_13 | chr20 | 44108150 | + | CAACCCCAGG.AGTTCCCCAT | rs2297199 | A/C | by-cluster_by-frequency_by-submitter_by-2hit-2allele | intron | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_151908_73_SD3_13 | chr20 | 44091372 | + | ATCCCCGGAC.AGGGGCCGCG | novel | C/T | unknown | 5' UTR | NM_020708 | SLC12A5 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30192_161_SD3_13 | chr21 | 34658254 | + | GCTCGCTAAC.CCAGCAAGAA | novel | G/A | unknown | 5' UTR | NM_172201 | KCNE2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30192_48_SD3_13 | chr21 | 34658141 | + | TAAACATGTG.GTTCATAAAA | novel | G/A | unknown | promoter | NM_172201 | KCNE2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30193_140_SD3_13 | chr21 | 34664592 | + | AGAAAAGATC.GTTTTCCTAA | rs9305548 | C/T | by-cluster_by-2hit-2allele | intron | NM_172201 | KCNE2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30193_168_SD3_13 | chr21 | 34664620 | + | CGCCTATTTT.TTATTTAAAT | novel | A/G | unknown | intron | NM_172201 | KCNE2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30193_34_SD3_13 | chr21 | 34664486 | + | CAGTTTAAAG.CTAACAAAAT | novel | A/G | unknown | intron | NM_172201 | KCNE2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30193_365_SD3_13 | chr21 | 34664817 | + | ATGGTGATGA.TGGAATGTTC | novel | T/C | unknown | coding_nonsynon | NM_172201 | KCNE2 | Ile | Thr | 57 | ATT | 2 | N/A |
| EP_30194_88_SD3_13 | chr21 | 34664817 | + | ATGGTGATGA.TGGAATGTTC | novel | T/C | unknown | coding_nonsynon | NM_172201 | KCNE2 | Ile | Thr | 57 | ATT | 2 | N/A |
| EP_30196_349_SD3_13 | chr7 | 150302933 | + | GGGCCACGAC.AGGGGCGGGG | novel | T/C | unknown | coding_nonsynon | NM_000238 | KCNH2 | Val | Met | 36 | GTG | 1 | N/A |
| EP_30196_349_SD3_13 | chr7 | 150302933 | + | GGGCCACGAC.AGGGGCGGGG | novel | T/C | unknown | coding_nonsynon | NM_172056 | KCNH2 | Val | Met | 36 | GTG | 1 | N/A |
| EP_30197_23_SD3_13 | chr7 | 150287539 | + | AGAAGTGGAC.GGCCCACTTG | novel | A/G | unknown | intron | NM_000238 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30197_23_SD3_13 | chr7 | 150287539 | + | AGAAGTGGAC.GGCCCACTTG | novel | A/G | unknown | intron | NM_172056 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30200_102_SD3_13 | chr7 | 150285220 | + | GCACCCACTG.GCAGCGGCTT | novel | T/C | unknown | intron | NM_000238 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30200_102_SD3_13 | chr7 | 150285220 | + | GCACCCACTG.GCAGCGGCTT | novel | T/C | unknown | intron | NM_172056 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30200_254_SD3_13 | chr7 | 150285372 | + | TAGCACCTAA.ATAAAGGAGC | novel | G/C | unknown | coding_synon | NM_000238 | KCNH2 | Arg | Arg | 356 | CGT | 3 | N/A |
| EP_30200_254_SD3_13 | chr7 | 150285372 | + | TAGCACCTAA.ATAAAGGAGC | novel | G/C | unknown | coding_synon | NM_172056 | KCNH2 | Arg | Arg | 356 | CGT | 3 | N/A |
| EP_30201_178_SD3_13 | chr7 | 150283479 | + | CAGGCAGGCT.CAGGGAGCCA | novel | A/G | unknown | coding_nonsynon | NM_172057 | KCNH2 | Pro | Ser | 16 | CCC | 1 | N/A |
| EP_30201_178_SD3_13 | chr7 | 150283479 | + | CAGGCAGGCT.CAGGGAGCCA | novel | A/G | unknown | intron | NM_000238 | KCNH2 | Pro | Ser | 16 | CCC | 1 | N/A |
| EP_30201_178_SD3_13 | chr7 | 150283479 | + | CAGGCAGGCT.CAGGGAGCCA | novel | A/G | unknown | intron | NM_172056 | KCNH2 | Pro | Ser | 16 | CCC | 1 | N/A |
| EP_30201_338_SD3_13 | chr7 | 150283639 | + | CTTCTTTCTG.GGCCGGCACA | novel | G/A | unknown | 5' UTR | NM_172057 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30201_338_SD3_13 | chr7 | 150283639 | + | CTTCTTTCTG.GGCCGGCACA | novel | G/A | unknown | intron | NM_000238 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30201_338_SD3_13 | chr7 | 150283639 | + | CTTCTTTCTG.GGCCGGCACA | novel | G/A | unknown | intron | NM_172056 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30201_369_SD3_13 | chr7 | 150283670 | + | TGGCTGGCCC.AGGGCTCTGA | novel | A/G | unknown | 5' UTR | NM_172057 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30201_369_SD3_13 | chr7 | 150283670 | + | TGGCTGGCCC.AGGGCTCTGA | novel | A/G | unknown | intron | NM_000238 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30201_369_SD3_13 | chr7 | 150283670 | + | TGGCTGGCCC.AGGGCTCTGA | novel | A/G | unknown | intron | NM_172056 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30202_83_SD3_13 | chr7 | 150280664 | + | CCCACACCTC.GCCTTCCCCG | novel | T/C | unknown | coding_nonsynon | NM_172057 | KCNH2 | Tyr | Asn | 107 | TAC | 1 | N/A |
| EP_30202_83_SD3_13 | chr7 | 150280664 | + | CCCACACCTC.GCCTTCCCCG | novel | T/C | unknown | coding_nonsynon | NM_000238 | KCNH2 | Tyr | Asn | 447 | TAC | 1 | N/A |
| EP_30202_83_SD3_13 | chr7 | 150280664 | + | CCCACACCTC.GCCTTCCCCG | novel | T/C | unknown | coding_nonsynon | NM_172056 | KCNH2 | Tyr | Asn | 447 | TAC | 1 | N/A |
| EP_30203_216_SD3_13 | chr7 | 150280591 | + | CCGGCCGCAT.GCCGTCCACT | novel | C/T | unknown | coding_synon | NM_172057 | KCNH2 | Ile | Ile | 149 | ATC | 3 | N/A |
| EP_30203_216_SD3_13 | chr7 | 150280591 | + | CCGGCCGCAT.GCCGTCCACT | novel | C/T | unknown | coding_synon | NM_000238 | KCNH2 | Ile | Ile | 489 | ATC | 3 | N/A |
| EP_30203_216_SD3_13 | chr7 | 150280591 | + | CCGGCCGCAT.GCCGTCCACT | novel | C/T | unknown | coding_synon | NM_172056 | KCNH2 | Ile | Ile | 489 | ATC | 3 | N/A |
| EP_30203_288_SD3_13 | chr7 | 150280663 | + | TGCTCATCTT.GGCTCTGGCT | novel | C/T | unknown | coding_synon | NM_172057 | KCNH2 | Phe | Phe | 173 | TTC | 3 | N/A |
| EP_30203_288_SD3_13 | chr7 | 150280663 | + | TGCTCATCTT.GGCTCTGGCT | novel | C/T | unknown | coding_synon | NM_000238 | KCNH2 | Phe | Phe | 513 | TTC | 3 | N/A |
| EP_30203_288_SD3_13 | chr7 | 150280663 | + | TGCTCATCTT.GGCTCTGGCT | novel | C/T | unknown | coding_synon | NM_172056 | KCNH2 | Phe | Phe | 513 | TTC | 3 | N/A |
| EP_30204_126_SD3_13 | chr7 | 150279743 | + | TTCCCTGTCC.CCAGCTGATC | novel | T/C | unknown | coding_nonsynon | NM_172057 | KCNH2 | Phe | Leu | 217 | TTT | 3 | N/A |
| EP_30204_126_SD3_13 | chr7 | 150279743 | + | TTCCCTGTCC.CCAGCTGATC | novel | T/C | unknown | coding_nonsynon | NM_000238 | KCNH2 | Phe | Leu | 557 | TTT | 3 | N/A |
| EP_30204_126_SD3_13 | chr7 | 150279743 | + | TTCCCTGTCC.CCAGCTGATC | novel | T/C | unknown | coding_nonsynon | NM_172056 | KCNH2 | Phe | Leu | 557 | TTT | 3 | N/A |
| EP_30204_136_SD3_13 | chr7 | 150279753 | + | CCCAGCTGAT.GGGCTGCTGA | novel | T/C | unknown | coding_synon | NM_172057 | KCNH2 | Ile | Ile | 181 | ATC | 3 | N/A |
| EP_30204_136_SD3_13 | chr7 | 150279753 | + | CCCAGCTGAT.GGGCTGCTGA | novel | T/C | unknown | coding_synon | NM_000238 | KCNH2 | Ile | Ile | 521 | ATC | 3 | N/A |
| EP_30204_136_SD3_13 | chr7 | 150279753 | + | CCCAGCTGAT.GGGCTGCTGA | novel | T/C | unknown | coding_synon | NM_172056 | KCNH2 | Ile | Ile | 521 | ATC | 3 | N/A |
| EP_30204_265_SD3_13 | chr7 | 150279882 | + | CGCACTGGCT.GCCTGCATCT | novel | G/A | unknown | intron | NM_172057 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30204_265_SD3_13 | chr7 | 150279882 | + | CGCACTGGCT.GCCTGCATCT | novel | G/A | unknown | intron | NM_000238 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30204_265_SD3_13 | chr7 | 150279882 | + | CGCACTGGCT.GCCTGCATCT | novel | G/A | unknown | intron | NM_172056 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30204_68_SD3_13 | chr7 | 150279685 | + | GGCCGCAGCA.CTCCCCTCCT | novel | C/G | unknown | coding_synon | NM_172057 | KCNH2 | Pro | Pro | 237 | CCA | 1 | N/A |
| EP_30204_68_SD3_13 | chr7 | 150279685 | + | GGCCGCAGCA.CTCCCCTCCT | novel | C/G | unknown | coding_synon | NM_000238 | KCNH2 | Pro | Pro | 577 | CCA | 1 | N/A |
| EP_30204_68_SD3_13 | chr7 | 150279685 | + | GGCCGCAGCA.CTCCCCTCCT | novel | C/G | unknown | coding_synon | NM_172056 | KCNH2 | Pro | Pro | 577 | CCA | 1 | N/A |
| EP_30205_126_SD3_13 | chr7 | 150279515 | + | TTCCCTGTCC.CCAGCTGATC | novel | C/T | unknown | coding_nonsynon | NM_172057 | KCNH2 | Asn | Lys | 293 | AAC | 3 | N/A |
| EP_30205_126_SD3_13 | chr7 | 150279515 | + | TTCCCTGTCC.CCAGCTGATC | novel | C/T | unknown | coding_nonsynon | NM_000238 | KCNH2 | Asn | Lys | 633 | AAC | 3 | N/A |
| EP_30205_126_SD3_13 | chr7 | 150279515 | + | TTCCCTGTCC.CCAGCTGATC | novel | C/T | unknown | coding_nonsynon | NM_172056 | KCNH2 | Asn | Lys | 633 | AAC | 3 | N/A |
| EP_30205_265_SD3_13 | chr7 | 150279654 | + | CGCACTGGCT.GCCTGCATCT | novel | G/A | unknown | coding_nonsynon | NM_172057 | KCNH2 | His | Pro | 247 | CAC | 2 | N/A |
| EP_30205_265_SD3_13 | chr7 | 150279654 | + | CGCACTGGCT.GCCTGCATCT | novel | G/A | unknown | coding_nonsynon | NM_000238 | KCNH2 | His | Pro | 587 | CAC | 2 | N/A |
| EP_30205_265_SD3_13 | chr7 | 150279654 | + | CGCACTGGCT.GCCTGCATCT | novel | G/A | unknown | coding_nonsynon | NM_172056 | KCNH2 | His | Pro | 587 | CAC | 2 | N/A |
| EP_30205_373_SD3_13 | chr7 | 150279762 | + | ACAACAGCAG.GGCCTGGGCG | novel | C/T | unknown | coding_nonsynon | NM_172057 | KCNH2 | Phe | Tyr | 211 | TTC | 2 | N/A |
| EP_30205_373_SD3_13 | chr7 | 150279762 | + | ACAACAGCAG.GGCCTGGGCG | novel | C/T | unknown | coding_nonsynon | NM_000238 | KCNH2 | Phe | Tyr | 551 | TTC | 2 | N/A |
| EP_30205_373_SD3_13 | chr7 | 150279762 | + | ACAACAGCAG.GGCCTGGGCG | novel | C/T | unknown | coding_nonsynon | NM_172056 | KCNH2 | Phe | Tyr | 551 | TTC | 2 | N/A |
| EP_30205_382_SD3_13 | chr7 | 150279771 | + | GCGGCCTGGG.GGCCCCTCCA | novel | T/C | unknown | coding_nonsynon | NM_172057 | KCNH2 | Ala | Asp | 208 | GCC | 2 | N/A |
| EP_30205_382_SD3_13 | chr7 | 150279771 | + | GCGGCCTGGG.GGCCCCTCCA | novel | T/C | unknown | coding_nonsynon | NM_000238 | KCNH2 | Ala | Asp | 548 | GCC | 2 | N/A |
| EP_30205_382_SD3_13 | chr7 | 150279771 | + | GCGGCCTGGG.GGCCCCTCCA | novel | T/C | unknown | coding_nonsynon | NM_172056 | KCNH2 | Ala | Asp | 548 | GCC | 2 | N/A |
| EP_30205_53_SD3_13 | chr7 | 150279442 | + | GATGCTCGCT.TGAGGGCCGC | novel | C/G | unknown | intron | NM_172057 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30205_53_SD3_13 | chr7 | 150279442 | + | GATGCTCGCT.TGAGGGCCGC | novel | C/G | unknown | intron | NM_000238 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30205_53_SD3_13 | chr7 | 150279442 | + | GATGCTCGCT.TGAGGGCCGC | novel | C/G | unknown | intron | NM_172056 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30205_68_SD3_13 | chr7 | 150279457 | + | GGCCGCAGCA.CTCCCCTCCT | novel | C/G | unknown | intron | NM_172057 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30205_68_SD3_13 | chr7 | 150279457 | + | GGCCGCAGCA.CTCCCCTCCT | novel | C/G | unknown | intron | NM_000238 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30205_68_SD3_13 | chr7 | 150279457 | + | GGCCGCAGCA.CTCCCCTCCT | novel | C/G | unknown | intron | NM_172056 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30206_115_SD3_13 | chr7 | 150278969 | + | CCCTCATGTA.GCTAGCATCT | novel | C/T | unknown | coding_synon | NM_172057 | KCNH2 | Ser | Ser | 366 | TCC | 3 | N/A |
| EP_30206_115_SD3_13 | chr7 | 150278969 | + | CCCTCATGTA.GCTAGCATCT | novel | C/T | unknown | coding_synon | NM_000238 | KCNH2 | Ser | Ser | 706 | TCC | 3 | N/A |
| EP_30206_115_SD3_13 | chr7 | 150278969 | + | CCCTCATGTA.GCTAGCATCT | novel | C/T | unknown | coding_synon | NM_172056 | KCNH2 | Ser | Ser | 706 | TCC | 3 | N/A |
| EP_30206_343_SD3_13 | chr7 | 150279197 | + | TGGCAGGCTG.GAAGAGTGGG | novel | G/C | unknown | intron | NM_172057 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30206_343_SD3_13 | chr7 | 150279197 | + | TGGCAGGCTG.GAAGAGTGGG | novel | G/C | unknown | intron | NM_000238 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30206_343_SD3_13 | chr7 | 150279197 | + | TGGCAGGCTG.GAAGAGTGGG | novel | G/C | unknown | intron | NM_172056 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30206_344_SD3_13 | chr7 | 150279198 | + | GGCAGGCTGG.AAGAGTGGGG | novel | G/A | unknown | intron | NM_172057 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30206_344_SD3_13 | chr7 | 150279198 | + | GGCAGGCTGG.AAGAGTGGGG | novel | G/A | unknown | intron | NM_000238 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30206_344_SD3_13 | chr7 | 150279198 | + | GGCAGGCTGG.AAGAGTGGGG | novel | G/A | unknown | intron | NM_172056 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30207_101_SD3_13 | chr7 | 150278205 | + | CACCCTGCCC.CAGGTGCTGA | novel | C/A | unknown | coding_synon | NM_172057 | KCNH2 | Val | Val | 454 | GTC | 3 | N/A |
| EP_30207_101_SD3_13 | chr7 | 150278205 | + | CACCCTGCCC.CAGGTGCTGA | novel | C/A | unknown | coding_synon | NM_000238 | KCNH2 | Val | Val | 794 | GTC | 3 | N/A |
| EP_30207_101_SD3_13 | chr7 | 150278205 | + | CACCCTGCCC.CAGGTGCTGA | novel | C/A | unknown | coding_synon | NM_172056 | KCNH2 | Val | Val | 794 | GTC | 3 | N/A |
| EP_30207_44_SD3_13 | chr7 | 150278148 | + | ATGGTGGAGT.GAGTGTGGGT | novel | G/A | unknown | intron | NM_172057 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30207_44_SD3_13 | chr7 | 150278148 | + | ATGGTGGAGT.GAGTGTGGGT | novel | G/A | unknown | intron | NM_000238 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30207_44_SD3_13 | chr7 | 150278148 | + | ATGGTGGAGT.GAGTGTGGGT | novel | G/A | unknown | coding_synon | NM_172056 | KCNH2 | Ser | Ser | 813 | TCT | 3 | N/A |
| EP_30208_305_SD3_13 | chr7 | 150278140 | + | GAGAGGAGCC.CACGTGGGGT | novel | C/T | unknown | intron | NM_172057 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30208_305_SD3_13 | chr7 | 150278140 | + | GAGAGGAGCC.CACGTGGGGT | novel | C/T | unknown | intron | NM_000238 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30208_305_SD3_13 | chr7 | 150278140 | + | GAGAGGAGCC.CACGTGGGGT | novel | C/T | unknown | coding_nonsynon | NM_172056 | KCNH2 | Pro | Leu | 858 | CCC | 2 | N/A |
| EP_30210_194_SD3_13 | chr7 | 150276557 | + | CGCACGGACA.GGGTGAGGCG | novel | A/C | unknown | coding_nonsynon | NM_172057 | KCNH2 | Lys | Thr | 557 | AAG | 2 | N/A |
| EP_30210_194_SD3_13 | chr7 | 150276557 | + | CGCACGGACA.GGGTGAGGCG | novel | A/C | unknown | coding_nonsynon | NM_000238 | KCNH2 | Lys | Thr | 897 | AAG | 2 | N/A |
| EP_30210_46_SD3_13 | chr7 | 150276409 | + | GGCCTGACCC.GGTGGGGCAG | novel | T/C | unknown | intron | NM_172057 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30210_46_SD3_13 | chr7 | 150276409 | + | GGCCTGACCC.GGTGGGGCAG | novel | T/C | unknown | intron | NM_000238 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30211_196_SD3_13 | chr7 | 150275695 | + | CGGGCGGGGG.AGGGCCGAGT | novel | C/T | unknown | coding_nonsynon | NM_172057 | KCNH2 | Ala | Val | 575 | GCA | 2 | N/A |
| EP_30211_196_SD3_13 | chr7 | 150275695 | + | CGGGCGGGGG.AGGGCCGAGT | novel | C/T | unknown | coding_nonsynon | NM_000238 | KCNH2 | Ala | Val | 915 | GCA | 2 | N/A |
| EP_30211_217_SD3_13 | chr7 | 150275716 | + | AGCCGGGGCC.GCCGGGGGGG | novel | G/A | unknown | coding_nonsynon | NM_172057 | KCNH2 | Arg | Gln | 582 | CGG | 2 | N/A |
| EP_30211_217_SD3_13 | chr7 | 150275716 | + | AGCCGGGGCC.GCCGGGGGGG | novel | G/A | unknown | coding_nonsynon | NM_000238 | KCNH2 | Arg | Gln | 922 | CGG | 2 | N/A |
| EP_30211_232_SD3_13 | chr7 | 150275731 | + | GGGGGGCCGT.GGGGGAGAGC | novel | G/A | unknown | coding_nonsynon | NM_172057 | KCNH2 | Arg | Leu | 614 | CGC | 2 | N/A |
| EP_30211_232_SD3_13 | chr7 | 150275731 | + | GGGGGGCCGT.GGGGGAGAGC | novel | G/A | unknown | coding_nonsynon | NM_000238 | KCNH2 | Arg | Leu | 954 | CGC | 2 | N/A |
| EP_30211_267_SD3_13 | chr7 | 150275766 | + | CTCCAGCCCT.AGAGCAGTGA | novel | G/A | unknown | coding_nonsynon | NM_172057 | KCNH2 | Glu | Lys | 599 | GAG | 1 | N/A |
| EP_30211_267_SD3_13 | chr7 | 150275766 | + | CTCCAGCCCT.AGAGCAGTGA | novel | G/A | unknown | coding_nonsynon | NM_000238 | KCNH2 | Glu | Lys | 939 | GAG | 1 | N/A |
| EP_30211_278_SD3_13 | chr7 | 150275777 | + | AGAGCAGTGA.GATGAGGGCC | novel | G/A | unknown | coding_nonsynon | NM_172057 | KCNH2 | Glu | STP | 599 | GAG | 1 | N/A |
| EP_30211_278_SD3_13 | chr7 | 150275777 | + | AGAGCAGTGA.GATGAGGGCC | novel | G/A | unknown | coding_nonsynon | NM_000238 | KCNH2 | Glu | STP | 939 | GAG | 1 | N/A |
| EP_30211_305_SD3_13 | chr7 | 150275804 | + | GCAGCTCCAG.CCCCTCCGCC | novel | C/T | unknown | coding_synon | NM_172057 | KCNH2 | Ser | Ser | 590 | AGC | 1 | N/A |
| EP_30211_305_SD3_13 | chr7 | 150275804 | + | GCAGCTCCAG.CCCCTCCGCC | novel | C/T | unknown | coding_synon | NM_000238 | KCNH2 | Ser | Ser | 930 | AGC | 1 | N/A |
| EP_30211_384_SD3_13 | chr7 | 150275883 | + | GGAGGACTGC.AGAAGAGCAG | novel | G/A | unknown | coding_nonsynon | NM_172057 | KCNH2 | Glu | Lys | 638 | GAG | 1 | N/A |
| EP_30211_384_SD3_13 | chr7 | 150275883 | + | GGAGGACTGC.AGAAGAGCAG | novel | G/A | unknown | coding_nonsynon | NM_000238 | KCNH2 | Glu | Lys | 978 | GAG | 1 | N/A |
| EP_30211_442_SD3_13 | chr7 | 150275941 | + | GGGCGGGCGA.GGAGGACCGG | novel | G/A | unknown | intron | NM_172057 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30211_442_SD3_13 | chr7 | 150275941 | + | GGGCGGGCGA.GGAGGACCGG | novel | G/A | unknown | intron | NM_000238 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30211_88_SD3_13 | chr7 | 150275587 | + | CCTCCACCCT.GCCCCCTCCT | novel | C/T | unknown | intron | NM_172057 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30211_88_SD3_13 | chr7 | 150275587 | + | CCTCCACCCT.GCCCCCTCCT | novel | C/T | unknown | intron | NM_000238 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30212_122_SD3_13 | chr7 | 150275389 | + | GGAGGACTGC.AGAAGAGCAG | novel | G/A | unknown | coding_nonsynon | NM_172057 | KCNH2 | Glu | Lys | 638 | GAG | 1 | N/A |
| EP_30212_122_SD3_13 | chr7 | 150275389 | + | GGAGGACTGC.AGAAGAGCAG | novel | G/A | unknown | coding_nonsynon | NM_000238 | KCNH2 | Glu | Lys | 978 | GAG | 1 | N/A |
| EP_30212_180_SD3_13 | chr7 | 150275447 | + | GGGCGGGCGA.GGAGGACCGG | novel | G/A | unknown | coding_synon | NM_172057 | KCNH2 | Pro | Pro | 678 | CCC | 3 | N/A |
| EP_30212_180_SD3_13 | chr7 | 150275447 | + | GGGCGGGCGA.GGAGGACCGG | novel | G/A | unknown | coding_synon | NM_000238 | KCNH2 | Pro | Pro | 1018 | CCC | 3 | N/A |
| EP_30212_455_SD3_13 | chr7 | 150275722 | + | CAGGTGGGGT.GGGGGGCACG | novel | G/A | unknown | coding_nonsynon | NM_172057 | KCNH2 | Pro | Leu | 617 | CCC | 2 | N/A |
| EP_30212_455_SD3_13 | chr7 | 150275722 | + | CAGGTGGGGT.GGGGGGCACG | novel | G/A | unknown | coding_nonsynon | NM_000238 | KCNH2 | Pro | Leu | 957 | CCC | 2 | N/A |
| EP_30212_471_SD3_13 | chr7 | 150275738 | + | GCACGCCCTG.AGTCTGGTCC | novel | C/G | unknown | coding_nonsynon | NM_172057 | KCNH2 | Pro | Ala | 612 | CCC | 1 | N/A |
| EP_30212_471_SD3_13 | chr7 | 150275738 | + | GCACGCCCTG.AGTCTGGTCC | novel | C/G | unknown | coding_nonsynon | NM_000238 | KCNH2 | Pro | Ala | 952 | CCC | 1 | N/A |
| EP_30214_385_SD3_13 | chr7 | 150273646 | + | GCTGCCCAGT.TGGACACGTG | novel | A/G | unknown | intron | NM_172057 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30214_385_SD3_13 | chr7 | 150273646 | + | GCTGCCCAGT.TGGACACGTG | novel | A/G | unknown | intron | NM_000238 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30214_471_SD3_13 | chr7 | 150273732 | + | CCGTGGAAGG.GAGAGGAACT | novel | G/A | unknown | intron | NM_172057 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30214_471_SD3_13 | chr7 | 150273732 | + | CCGTGGAAGG.GAGAGGAACT | novel | G/A | unknown | intron | NM_000238 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30214_71_SD3_13 | chr7 | 150273332 | + | CTTGGCTCTT.TCCCCTCCAG | novel | G/T | unknown | 3' UTR | NM_172057 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30214_71_SD3_13 | chr7 | 150273332 | + | CTTGGCTCTT.TCCCCTCCAG | novel | G/T | unknown | 3' UTR | NM_000238 | KCNH2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30217_53_SD3_13 | chr11 | 2439226 | + | TGAGCCGGCC.GGGCGGGGGT | novel | G/A | unknown | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30217_53_SD3_13 | chr11 | 2439226 | + | TGAGCCGGCC.GGGCGGGGGT | novel | G/A | unknown | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30217_53_SD3_13 | chr11 | 2439226 | + | TGAGCCGGCC.GGGCGGGGGT | novel | G/A | unknown | promoter | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30218_279_SD3_13 | chr11 | 2499439 | + | AGCTGCCCAC.TGTCTTTGCA | novel | G/A | unknown | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30218_279_SD3_13 | chr11 | 2499439 | + | AGCTGCCCAC.TGTCTTTGCA | novel | G/A | unknown | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30218_279_SD3_13 | chr11 | 2499439 | + | AGCTGCCCAC.TGTCTTTGCA | novel | G/A | unknown | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30218_55_SD3_13 | chr11 | 2499215 | + | TCTGCTCATG.CCTTCCATGC | novel | T/C | unknown | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30218_55_SD3_13 | chr11 | 2499215 | + | TCTGCTCATG.CCTTCCATGC | novel | T/C | unknown | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30218_55_SD3_13 | chr11 | 2499215 | + | TCTGCTCATG.CCTTCCATGC | novel | T/C | unknown | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30219_206_SD3_13 | chr11 | 2505782 | + | TGTCCACCAT.GAGCAGTATG | rs1800170 | C/T | by-cluster_by-frequency | coding_synon | NM_000218 | KCNQ1 | Ile | Ile | 145 | ATC | 3 | N/A |
| EP_30219_206_SD3_13 | chr11 | 2505782 | + | TGTCCACCAT.GAGCAGTATG | rs1800170 | C/T | by-cluster_by-frequency | coding_synon | NM_181797 | KCNQ1 | Ile | Ile | 55 | ATC | 3 | N/A |
| EP_30219_206_SD3_13 | chr11 | 2505782 | + | TGTCCACCAT.GAGCAGTATG | rs1800170 | C/T | by-cluster_by-frequency | coding_synon | NM_181798 | KCNQ1 | Ile | Ile | 18 | ATC | 3 | N/A |
| EP_30219_333_SD3_13 | chr11 | 2505909 | + | ATAAGGTGGG.GGCAGAGCCA | novel | G/- | unknown | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30219_333_SD3_13 | chr11 | 2505909 | + | ATAAGGTGGG.GGCAGAGCCA | novel | G/- | unknown | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30219_333_SD3_13 | chr11 | 2505909 | + | ATAAGGTGGG.GGCAGAGCCA | novel | G/- | unknown | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30219_334_SD3_13 | chr11 | 2505910 | + | TAAGGTGGGG.GCAGAGCCAC | novel | -/G | unknown | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30219_334_SD3_13 | chr11 | 2505910 | + | TAAGGTGGGG.GCAGAGCCAC | novel | -/G | unknown | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30219_334_SD3_13 | chr11 | 2505910 | + | TAAGGTGGGG.GCAGAGCCAC | novel | -/G | unknown | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30219_335_SD3_13 | chr11 | 2505911 | + | AAGGTGGGGG.CAGAGCCACT | novel | G/- | unknown | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30219_335_SD3_13 | chr11 | 2505911 | + | AAGGTGGGGG.CAGAGCCACT | novel | G/- | unknown | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30219_335_SD3_13 | chr11 | 2505911 | + | AAGGTGGGGG.CAGAGCCACT | novel | G/- | unknown | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30219_55_SD3_13 | chr11 | 2505631 | + | CTGTCTGTTC.TACCTGGGGG | novel | C/- | unknown | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30219_55_SD3_13 | chr11 | 2505631 | + | CTGTCTGTTC.TACCTGGGGG | novel | C/- | unknown | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30219_55_SD3_13 | chr11 | 2505631 | + | CTGTCTGTTC.TACCTGGGGG | novel | C/- | unknown | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30219_61_SD3_13 | chr11 | 2505637 | + | GTTCCTACCT.GGGGCGGGGC | rs28730663 | G/C | unknown | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30219_61_SD3_13 | chr11 | 2505637 | + | GTTCCTACCT.GGGGCGGGGC | rs28730663 | G/C | unknown | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30219_61_SD3_13 | chr11 | 2505637 | + | GTTCCTACCT.GGGGCGGGGC | rs28730663 | G/C | unknown | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30220_76_SD3_13 | chr11 | 2548424 | + | GTCCCACTCT.TCCCTGCAGG | rs28730752 | G/A | unknown | splice_region | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30220_76_SD3_13 | chr11 | 2548424 | + | GTCCCACTCT.TCCCTGCAGG | rs28730752 | G/A | unknown | splice_region | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30220_76_SD3_13 | chr11 | 2548424 | + | GTCCCACTCT.TCCCTGCAGG | rs28730752 | G/A | unknown | splice_region | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30222_194_SD3_13 | chr11 | 2549855 | + | GGATGCTACA.GTCGACCGCC | rs28730754 | C/T | unknown | coding_synon | NM_000218 | KCNQ1 | His | His | 240 | CAC | 3 | N/A |
| EP_30222_194_SD3_13 | chr11 | 2549855 | + | GGATGCTACA.GTCGACCGCC | rs28730754 | C/T | unknown | coding_synon | NM_181797 | KCNQ1 | His | His | 150 | CAC | 3 | N/A |
| EP_30222_194_SD3_13 | chr11 | 2549855 | + | GGATGCTACA.GTCGACCGCC | rs28730754 | C/T | unknown | coding_synon | NM_181798 | KCNQ1 | His | His | 113 | CAC | 3 | N/A |
| EP_30223_234_SD3_13 | chr11 | 2550723 | + | ACCTGGCTGA.AAGGACGCGG | novel | G/A | unknown | coding_synon | NM_000218 | KCNQ1 | Glu | Glu | 284 | GAG | 3 | N/A |
| EP_30223_234_SD3_13 | chr11 | 2550723 | + | ACCTGGCTGA.AAGGACGCGG | novel | G/A | unknown | coding_synon | NM_181797 | KCNQ1 | Glu | Glu | 194 | GAG | 3 | N/A |
| EP_30223_234_SD3_13 | chr11 | 2550723 | + | ACCTGGCTGA.AAGGACGCGG | novel | G/A | unknown | coding_synon | NM_181798 | KCNQ1 | Glu | Glu | 157 | GAG | 3 | N/A |
| EP_30223_364_SD3_13 | chr11 | 2550853 | + | GTGGGCAGGA.ATCTGGGCAC | novel | T/C | unknown | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30223_364_SD3_13 | chr11 | 2550853 | + | GTGGGCAGGA.ATCTGGGCAC | novel | T/C | unknown | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30223_364_SD3_13 | chr11 | 2550853 | + | GTGGGCAGGA.ATCTGGGCAC | novel | T/C | unknown | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30223_46_SD3_13 | chr11 | 2550535 | + | CATGTGAACC.CGCTGGAGCG | novel | G/A | unknown | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30223_46_SD3_13 | chr11 | 2550535 | + | CATGTGAACC.CGCTGGAGCG | novel | G/A | unknown | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30223_46_SD3_13 | chr11 | 2550535 | + | CATGTGAACC.CGCTGGAGCG | novel | G/A | unknown | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30223_64_SD3_13 | chr11 | 2550553 | + | GCGGCGTAGG.CGCCCAGTGA | rs4930127 | A/G | by-cluster_by-frequency_by-2hit-2allele | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30223_64_SD3_13 | chr11 | 2550553 | + | GCGGCGTAGG.CGCCCAGTGA | rs4930127 | A/G | by-cluster_by-frequency_by-2hit-2allele | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30223_64_SD3_13 | chr11 | 2550553 | + | GCGGCGTAGG.CGCCCAGTGA | rs4930127 | A/G | by-cluster_by-frequency_by-2hit-2allele | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30223_82_SD3_13 | chr11 | 2550571 | + | TGATCGCTGG.ACTCGCTGCC | novel | C/G | unknown | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30223_82_SD3_13 | chr11 | 2550571 | + | TGATCGCTGG.ACTCGCTGCC | novel | C/G | unknown | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30223_82_SD3_13 | chr11 | 2550571 | + | TGATCGCTGG.ACTCGCTGCC | novel | C/G | unknown | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30226_247_SD3_13 | chr11 | 2565469 | + | TCTGCTGTCA.CCAGCCCCAA | rs28730756 | G/C | unknown | coding_nonsynon | NM_000218 | KCNQ1 | Pro | Ala | 408 | CCC | 1 | N/A |
| EP_30226_247_SD3_13 | chr11 | 2565469 | + | TCTGCTGTCA.CCAGCCCCAA | rs28730756 | G/C | unknown | coding_nonsynon | NM_181797 | KCNQ1 | Pro | Ala | 318 | CCC | 1 | N/A |
| EP_30226_247_SD3_13 | chr11 | 2565469 | + | TCTGCTGTCA.CCAGCCCCAA | rs28730756 | G/C | unknown | coding_nonsynon | NM_181798 | KCNQ1 | Pro | Ala | 281 | CCC | 1 | N/A |
| EP_30226_274_SD3_13 | chr11 | 2565496 | + | GAAGTCTGTG.TGGTGAGTAG | novel | G/C | unknown | coding_nonsynon | NM_000218 | KCNQ1 | Val | Leu | 417 | GTG | 1 | N/A |
| EP_30226_274_SD3_13 | chr11 | 2565496 | + | GAAGTCTGTG.TGGTGAGTAG | novel | G/C | unknown | coding_nonsynon | NM_181797 | KCNQ1 | Val | Leu | 327 | GTG | 1 | N/A |
| EP_30226_274_SD3_13 | chr11 | 2565496 | + | GAAGTCTGTG.TGGTGAGTAG | novel | G/C | unknown | coding_nonsynon | NM_181798 | KCNQ1 | Val | Leu | 290 | GTG | 1 | N/A |
| EP_30227_107_SD3_13 | chr11 | 2566459 | + | CTCTGGGGCC.GCGTAGGGCC | novel | G/A | unknown | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30227_107_SD3_13 | chr11 | 2566459 | + | CTCTGGGGCC.GCGTAGGGCC | novel | G/A | unknown | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30227_107_SD3_13 | chr11 | 2566459 | + | CTCTGGGGCC.GCGTAGGGCC | novel | G/A | unknown | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30227_337_SD3_13 | chr11 | 2566689 | + | GTTGGGGGCC.CGGGGCCGGG | novel | G/A | unknown | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30227_337_SD3_13 | chr11 | 2566689 | + | GTTGGGGGCC.CGGGGCCGGG | novel | G/A | unknown | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30227_337_SD3_13 | chr11 | 2566689 | + | GTTGGGGGCC.CGGGGCCGGG | novel | G/A | unknown | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30228_109_SD3_13 | chr11 | 2639728 | + | GCAGGTTGGG.GGGAGGCCTA | rs739502 | T/G | by-cluster_by-frequency_by-2hit-2allele | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30228_109_SD3_13 | chr11 | 2639728 | + | GCAGGTTGGG.GGGAGGCCTA | rs739502 | T/G | by-cluster_by-frequency_by-2hit-2allele | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30228_109_SD3_13 | chr11 | 2639728 | + | GCAGGTTGGG.GGGAGGCCTA | rs739502 | T/G | by-cluster_by-frequency_by-2hit-2allele | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30228_209_SD3_13 | chr11 | 2639828 | + | CCAACAGCTT.GCCGAGGACC | rs17215465 | T/C | by-cluster_by-frequency | coding_synon | NM_000218 | KCNQ1 | Phe | Phe | 485 | TTC | 3 | N/A |
| EP_30228_209_SD3_13 | chr11 | 2639828 | + | CCAACAGCTT.GCCGAGGACC | rs17215465 | T/C | by-cluster_by-frequency | coding_synon | NM_181797 | KCNQ1 | Phe | Phe | 395 | TTC | 3 | N/A |
| EP_30228_209_SD3_13 | chr11 | 2639828 | + | CCAACAGCTT.GCCGAGGACC | rs17215465 | T/C | by-cluster_by-frequency | coding_synon | NM_181798 | KCNQ1 | Phe | Phe | 358 | TTC | 3 | N/A |
| EP_30228_314_SD3_13 | chr11 | 2639933 | + | AGGGGACTGG.GCTCAAGGAG | rs760419 | A/G | by-frequency_by-2hit-2allele | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30228_314_SD3_13 | chr11 | 2639933 | + | AGGGGACTGG.GCTCAAGGAG | rs760419 | A/G | by-frequency_by-2hit-2allele | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30228_314_SD3_13 | chr11 | 2639933 | + | AGGGGACTGG.GCTCAAGGAG | rs760419 | A/G | by-frequency_by-2hit-2allele | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30228_318_SD3_13 | chr11 | 2639937 | + | GACTGGAGCT.AAGGAGTCAG | novel | C/G | unknown | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30228_318_SD3_13 | chr11 | 2639937 | + | GACTGGAGCT.AAGGAGTCAG | novel | C/G | unknown | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30228_318_SD3_13 | chr11 | 2639937 | + | GACTGGAGCT.AAGGAGTCAG | novel | C/G | unknown | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30229_211_SD3_13 | chr11 | 2746739 | + | AGCCCTGTGC.GAGCCTTCCT | novel | T/A | unknown | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30229_211_SD3_13 | chr11 | 2746739 | + | AGCCCTGTGC.GAGCCTTCCT | novel | T/A | unknown | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30229_211_SD3_13 | chr11 | 2746739 | + | AGCCCTGTGC.GAGCCTTCCT | novel | T/A | unknown | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30229_67_SD3_13 | chr11 | 2746595 | + | GGGCAGTGAG.GGATGACCAG | rs2075870 | G/A | by-cluster_by-frequency | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30229_67_SD3_13 | chr11 | 2746595 | + | GGGCAGTGAG.GGATGACCAG | rs2075870 | G/A | by-cluster_by-frequency | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30229_67_SD3_13 | chr11 | 2746595 | + | GGGCAGTGAG.GGATGACCAG | rs2075870 | G/A | by-cluster_by-frequency | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30229_91_SD3_13 | chr11 | 2746619 | + | AGGGTGGCCA.TCACAATCTC | novel | C/G | unknown | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30229_91_SD3_13 | chr11 | 2746619 | + | AGGGTGGCCA.TCACAATCTC | novel | C/G | unknown | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30229_91_SD3_13 | chr11 | 2746619 | + | AGGGTGGCCA.TCACAATCTC | novel | C/G | unknown | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30230_187_SD3_13 | chr11 | 2753813 | + | AGCAGTACTC.CAGGGCCACC | rs1057128 | G/A | by-submitter | coding_synon | NM_000218 | KCNQ1 | Ser | Ser | 546 | TCG | 3 | N/A |
| EP_30230_187_SD3_13 | chr11 | 2753813 | + | AGCAGTACTC.CAGGGCCACC | rs1057128 | G/A | by-submitter | coding_synon | NM_181797 | KCNQ1 | Ser | Ser | 456 | TCG | 3 | N/A |
| EP_30230_187_SD3_13 | chr11 | 2753813 | + | AGCAGTACTC.CAGGGCCACC | rs1057128 | G/A | by-submitter | coding_synon | NM_181798 | KCNQ1 | Ser | Ser | 419 | TCG | 3 | N/A |
| EP_30230_270_SD3_13 | chr11 | 2753896 | + | GAGGGTGCCC.GGTCCTGCCC | rs163150 | G/A | by-frequency_by-2hit-2allele | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30230_270_SD3_13 | chr11 | 2753896 | + | GAGGGTGCCC.GGTCCTGCCC | rs163150 | G/A | by-frequency_by-2hit-2allele | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30230_270_SD3_13 | chr11 | 2753896 | + | GAGGGTGCCC.GGTCCTGCCC | rs163150 | G/A | by-frequency_by-2hit-2allele | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30231_124_SD3_13 | chr11 | 2754881 | + | CAGCCTGCAA.GGACTCTCCC | rs81204 | T/C | by-cluster_by-frequency_by-submitter_by-2hit-2allele | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30231_124_SD3_13 | chr11 | 2754881 | + | CAGCCTGCAA.GGACTCTCCC | rs81204 | T/C | by-cluster_by-frequency_by-submitter_by-2hit-2allele | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30231_124_SD3_13 | chr11 | 2754881 | + | CAGCCTGCAA.GGACTCTCCC | rs81204 | T/C | by-cluster_by-frequency_by-submitter_by-2hit-2allele | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30232_217_SD3_13 | chr11 | 2755875 | + | CGGTGGTTCT.GTTAGCGTCC | novel | G/T | unknown | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30232_217_SD3_13 | chr11 | 2755875 | + | CGGTGGTTCT.GTTAGCGTCC | novel | G/T | unknown | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30232_217_SD3_13 | chr11 | 2755875 | + | CGGTGGTTCT.GTTAGCGTCC | novel | G/T | unknown | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30232_287_SD3_13 | chr11 | 2755945 | + | TGCAGGCCTC.CCACCTTCCC | novel | C/G | unknown | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30232_287_SD3_13 | chr11 | 2755945 | + | TGCAGGCCTC.CCACCTTCCC | novel | C/G | unknown | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30232_287_SD3_13 | chr11 | 2755945 | + | TGCAGGCCTC.CCACCTTCCC | novel | C/G | unknown | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30232_71_SD3_13 | chr11 | 2755729 | + | CCAGCTGGGG.CCCCGGCCCA | novel | T/C | unknown | intron | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30232_71_SD3_13 | chr11 | 2755729 | + | CCAGCTGGGG.CCCCGGCCCA | novel | T/C | unknown | intron | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30232_71_SD3_13 | chr11 | 2755729 | + | CCAGCTGGGG.CCCCGGCCCA | novel | T/C | unknown | intron | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30233_319_SD3_13 | chr11 | 2825764 | + | TGCCCACCTA.GAGCAGCTGA | rs11601907 | C/T | by-cluster_by-frequency | coding_synon | NM_000218 | KCNQ1 | Tyr | Tyr | 662 | TAC | 3 | N/A |
| EP_30233_319_SD3_13 | chr11 | 2825764 | + | TGCCCACCTA.GAGCAGCTGA | rs11601907 | C/T | by-cluster_by-frequency | coding_synon | NM_181797 | KCNQ1 | Tyr | Tyr | 572 | TAC | 3 | N/A |
| EP_30233_319_SD3_13 | chr11 | 2825764 | + | TGCCCACCTA.GAGCAGCTGA | rs11601907 | C/T | by-cluster_by-frequency | coding_synon | NM_181798 | KCNQ1 | Tyr | Tyr | 535 | TAC | 3 | N/A |
| EP_30233_445_SD3_13 | chr11 | 2825890 | + | TGAAGGAGGC.ACCTCCTAAA | novel | A/C | unknown | 3' UTR | NM_000218 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30233_445_SD3_13 | chr11 | 2825890 | + | TGAAGGAGGC.ACCTCCTAAA | novel | A/C | unknown | 3' UTR | NM_181797 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30233_445_SD3_13 | chr11 | 2825890 | + | TGAAGGAGGC.ACCTCCTAAA | novel | A/C | unknown | 3' UTR | NM_181798 | KCNQ1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30234_171_SD3_13 | chr3 | 38649585 | + | AGCGCATGGC.GAGAAGCAAG | novel | G/A | unknown | coding_synon | NM_000335 | SCN5A | Ala | Ala | 29 | GCA | 3 | N/A |
| EP_30234_171_SD3_13 | chr3 | 38649585 | + | AGCGCATGGC.GAGAAGCAAG | novel | G/A | unknown | coding_synon | NM_198056 | SCN5A | Ala | Ala | 29 | GCA | 3 | N/A |
| EP_30234_408_SD3_13 | chr3 | 38649822 | + | CAACTCCCTT.TCAATGGAGC | novel | G/A | unknown | 5' UTR | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30234_408_SD3_13 | chr3 | 38649822 | + | CAACTCCCTT.TCAATGGAGC | novel | G/A | unknown | 5' UTR | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30235_149_SD3_13 | chr3 | 38646846 | + | CTACACAAGG.CCTAATGCTA | novel | G/A | unknown | coding_nonsynon | NM_000335 | SCN5A | His | Tyr | 118 | CAC | 1 | N/A |
| EP_30235_149_SD3_13 | chr3 | 38646846 | + | CTACACAAGG.CCTAATGCTA | novel | G/A | unknown | coding_nonsynon | NM_198056 | SCN5A | His | Tyr | 118 | CAC | 1 | N/A |
| EP_30235_150_SD3_13 | chr3 | 38646847 | + | TACACAAGGG.CTAATGCTAC | novel | C/T | unknown | coding_nonsynon | NM_000335 | SCN5A | Phe | Leu | 117 | TTC | 3 | N/A |
| EP_30235_150_SD3_13 | chr3 | 38646847 | + | TACACAAGGG.CTAATGCTAC | novel | C/T | unknown | coding_nonsynon | NM_198056 | SCN5A | Phe | Leu | 117 | TTC | 3 | N/A |
| EP_30235_326_SD3_13 | chr3 | 38647023 | + | CTGAGTACCC.CTGGGGGCCC | novel | C/A | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30235_326_SD3_13 | chr3 | 38647023 | + | CTGAGTACCC.CTGGGGGCCC | novel | C/A | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30241_160_SD3_13 | chr3 | 38623108 | + | CGGAGGGCTA.CGGTGCCTAA | novel | C/T | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30241_160_SD3_13 | chr3 | 38623108 | + | CGGAGGGCTA.CGGTGCCTAA | novel | C/T | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30241_368_SD3_13 | chr3 | 38623316 | + | CCCCAGCAGC.TCCCCACTGG | novel | T/C | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30241_368_SD3_13 | chr3 | 38623316 | + | CCCCAGCAGC.TCCCCACTGG | novel | T/C | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30241_375_SD3_13 | chr3 | 38623323 | + | AGCCTCCCCA.TGGTGGGAGC | novel | C/A | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30241_375_SD3_13 | chr3 | 38623323 | + | AGCCTCCCCA.TGGTGGGAGC | novel | C/A | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30241_381_SD3_13 | chr3 | 38623329 | + | CCCACTGGTG.GAGCTTTGGA | novel | A/G | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30241_381_SD3_13 | chr3 | 38623329 | + | CCCACTGGTG.GAGCTTTGGA | novel | A/G | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30242_138_SD3_13 | chr3 | 38622463 | + | CTTGCTCCCC.AGACCCTCAG | novel | C/A | unknown | coding_nonsynon | NM_000335 | SCN5A | Leu | Phe | 441 | CTC | 1 | N/A |
| EP_30242_138_SD3_13 | chr3 | 38622463 | + | CTTGCTCCCC.AGACCCTCAG | novel | C/A | unknown | coding_nonsynon | NM_198056 | SCN5A | Leu | Phe | 441 | CTC | 1 | N/A |
| EP_30243_101_SD3_13 | chr3 | 38621140 | + | TGATGGAAAC.TCCGTTCCTC | novel | G/A | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30243_101_SD3_13 | chr3 | 38621140 | + | TGATGGAAAC.TCCGTTCCTC | novel | G/A | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30243_167_SD3_13 | chr3 | 38621206 | + | CCGTAGCTCC.TGGAGATGTC | novel | T/G | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30243_167_SD3_13 | chr3 | 38621206 | + | CCGTAGCTCC.TGGAGATGTC | novel | T/G | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30243_415_SD3_13 | chr3 | 38621454 | + | TCTGCGCTTC.TGTTTCCCAT | novel | C/T | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30243_415_SD3_13 | chr3 | 38621454 | + | TCTGCGCTTC.TGTTTCCCAT | novel | C/T | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30244_157_SD3_13 | chr3 | 38620283 | + | AAGCCACGTT.CAGCCGCGGG | novel | C/A | unknown | coding_nonsynon | NM_000335 | SCN5A | Gly | Val | 605 | GGG | 2 | N/A |
| EP_30244_157_SD3_13 | chr3 | 38620283 | + | AAGCCACGTT.CAGCCGCGGG | novel | C/A | unknown | coding_nonsynon | NM_198056 | SCN5A | Gly | Val | 605 | GGG | 2 | N/A |
| EP_30244_259_SD3_13 | chr3 | 38620385 | + | GAGAGCCACC.CACATCACTG | novel | A/G | unknown | coding_nonsynon | NM_000335 | SCN5A | His | Arg | 558 | CAC | 2 | N/A |
| EP_30244_259_SD3_13 | chr3 | 38620385 | + | GAGAGCCACC.CACATCACTG | novel | A/G | unknown | coding_nonsynon | NM_198056 | SCN5A | His | Arg | 558 | CAC | 2 | N/A |
| EP_30244_521_SD3_13 | chr3 | 38620647 | + | GTCTGGTCTC.CAAACTGATC | novel | C/G | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30244_521_SD3_13 | chr3 | 38620647 | + | GTCTGGTCTC.CAAACTGATC | novel | C/G | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30244_526_SD3_13 | chr3 | 38620652 | + | GTCTCCCAAA.TGATCACCAG | novel | C/T | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30244_526_SD3_13 | chr3 | 38620652 | + | GTCTCCCAAA.TGATCACCAG | novel | C/T | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30246_176_SD3_13 | chr3 | 38614251 | + | GAGTGCTGCC.GCTGTGGATG | novel | C/T | unknown | coding_nonsynon | NM_000335 | SCN5A | Phe | Leu | 745 | TTC | 3 | N/A |
| EP_30246_176_SD3_13 | chr3 | 38614251 | + | GAGTGCTGCC.GCTGTGGATG | novel | C/T | unknown | coding_nonsynon | NM_198056 | SCN5A | Phe | Leu | 745 | TTC | 3 | N/A |
| EP_30250_114_SD3_13 | chr3 | 38597318 | + | ACCAAGAAGA.GATGAGGAGA | novel | G/A | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30250_114_SD3_13 | chr3 | 38597318 | + | ACCAAGAAGA.GATGAGGAGA | novel | G/A | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30251_231_SD3_13 | chr3 | 38595799 | + | GCGACTGCCT.CTCTGAGGCC | novel | C/A | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30251_231_SD3_13 | chr3 | 38595799 | + | GCGACTGCCT.CTCTGAGGCC | novel | C/A | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30252_359_SD3_13 | chr3 | 38593397 | + | GGTAATGGCC.GGGCAGCCCT | novel | C/T | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30252_359_SD3_13 | chr3 | 38593397 | + | GGTAATGGCC.GGGCAGCCCT | novel | C/T | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30252_421_SD3_13 | chr3 | 38593459 | + | AGCAGCTCCT.GGAGCCCAGG | novel | T/C | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30252_421_SD3_13 | chr3 | 38593459 | + | AGCAGCTCCT.GGAGCCCAGG | novel | T/C | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30254_349_SD3_13 | chr3 | 38583041 | + | GGAGCCAGTA.GCTGAAGGGG | novel | G/C | unknown | coding_nonsynon | NM_000335 | SCN5A | Ile | Val | 1234 | ATC | 1 | N/A |
| EP_30254_349_SD3_13 | chr3 | 38583041 | + | GGAGCCAGTA.GCTGAAGGGG | novel | G/C | unknown | coding_nonsynon | NM_198056 | SCN5A | Ile | Val | 1235 | ATC | 1 | N/A |
| EP_30256_180_SD3_13 | chr3 | 38576859 | + | GGGTCTTGAA.AGGGCATGTG | novel | A/C | unknown | coding_nonsynon | NM_000335 | SCN5A | Ile | Ser | 1342 | ATC | 2 | N/A |
| EP_30256_180_SD3_13 | chr3 | 38576859 | + | GGGTCTTGAA.AGGGCATGTG | novel | A/C | unknown | coding_nonsynon | NM_198056 | SCN5A | Ile | Ser | 1343 | ATC | 2 | N/A |
| EP_30258_25_SD3_13 | chr3 | 38573659 | + | TTCTCTGACC.CCCAGGCATT | novel | A/T | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30258_25_SD3_13 | chr3 | 38573659 | + | TTCTCTGACC.CCCAGGCATT | novel | A/T | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30258_287_SD3_13 | chr3 | 38573921 | + | AGGCTCCTGG.TGCTTGGCCA | novel | C/T | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30258_287_SD3_13 | chr3 | 38573921 | + | AGGCTCCTGG.TGCTTGGCCA | novel | C/T | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30259_116_SD3_13 | chr3 | 38572848 | + | CCCTGTGTGA.TTCTCCCTTG | novel | T/C | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30259_116_SD3_13 | chr3 | 38572848 | + | CCCTGTGTGA.TTCTCCCTTG | novel | T/C | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30259_332_SD3_13 | chr3 | 38573064 | + | GGGATTGAGG.GCCACTCAGG | novel | G/A | unknown | coding_nonsynon | NM_000335 | SCN5A | Gln | STP | 1436 | CAG | 1 | N/A |
| EP_30259_332_SD3_13 | chr3 | 38573064 | + | GGGATTGAGG.GCCACTCAGG | novel | G/A | unknown | coding_nonsynon | NM_198056 | SCN5A | Gln | STP | 1437 | CAG | 1 | N/A |
| EP_30260_361_SD3_13 | chr3 | 38572309 | + | CAGCCATCAG.GCCGCTTCAC | novel | A/G | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30260_361_SD3_13 | chr3 | 38572309 | + | CAGCCATCAG.GCCGCTTCAC | novel | A/G | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30260_364_SD3_13 | chr3 | 38572312 | + | CCATCAGAGC.GCTTCACAGT | novel | C/T | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30260_364_SD3_13 | chr3 | 38572312 | + | CCATCAGAGC.GCTTCACAGT | novel | C/T | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30260_77_SD3_13 | chr3 | 38572025 | + | AGGTGGTCAA.CCTGGCATCC | novel | T/C | unknown | intron | NM_000335 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30260_77_SD3_13 | chr3 | 38572025 | + | AGGTGGTCAA.CCTGGCATCC | novel | T/C | unknown | intron | NM_198056 | SCN5A | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30267_142_SD3_13 | chr6 | 29708121 | + | GCGGGCGGGG.GCAGACCCCC | novel | T/C | unknown | coding_nonsynon | NM_001470 | GABBR1 | Ala | Val | 20 | GCG | 2 | N/A |
| EP_30267_142_SD3_13 | chr6 | 29708121 | + | GCGGGCGGGG.GCAGACCCCC | novel | T/C | unknown | coding_nonsynon | NM_021904 | GABBR1 | Ala | Val | 20 | GCG | 2 | N/A |
| EP_30267_142_SD3_13 | chr6 | 29708121 | + | GCGGGCGGGG.GCAGACCCCC | novel | T/C | unknown | coding_nonsynon | NM_021905 | GABBR1 | Ala | Val | 20 | GCG | 2 | N/A |
| EP_30267_161_SD3_13 | chr6 | 29708140 | + | CCAACGCCAC.TCAGAAGGTG | novel | G/C | unknown | coding_nonsynon | NM_001470 | GABBR1 | Met | Thr | 1 | ATG | 2 | N/A |
| EP_30267_161_SD3_13 | chr6 | 29708140 | + | CCAACGCCAC.TCAGAAGGTG | novel | G/C | unknown | coding_nonsynon | NM_021904 | GABBR1 | Met | Thr | 1 | ATG | 2 | N/A |
| EP_30267_161_SD3_13 | chr6 | 29708140 | + | CCAACGCCAC.TCAGAAGGTG | novel | G/C | unknown | coding_nonsynon | NM_021905 | GABBR1 | Met | Thr | 1 | ATG | 2 | N/A |
| EP_30267_192_SD3_13 | chr6 | 29708171 | + | CGACGACCTC.GGCCCTCCTT | novel | C/G | unknown | intron | NM_001470 | GABBR1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30267_192_SD3_13 | chr6 | 29708171 | + | CGACGACCTC.GGCCCTCCTT | novel | C/G | unknown | intron | NM_021904 | GABBR1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30267_192_SD3_13 | chr6 | 29708171 | + | CGACGACCTC.GGCCCTCCTT | novel | C/G | unknown | intron | NM_021905 | GABBR1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30271_27_SD3_13 | chr6 | 29703174 | + | GGAGGCGCCT.CCCGGCACCC | novel | C/T | unknown | intron | NM_021903 | GABBR1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30271_27_SD3_13 | chr6 | 29703174 | + | GGAGGCGCCT.CCCGGCACCC | novel | C/T | unknown | intron | NM_001470 | GABBR1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30271_27_SD3_13 | chr6 | 29703174 | + | GGAGGCGCCT.CCCGGCACCC | novel | C/T | unknown | intron | NM_021904 | GABBR1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30271_27_SD3_13 | chr6 | 29703174 | + | GGAGGCGCCT.CCCGGCACCC | novel | C/T | unknown | intron | NM_021905 | GABBR1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30272_91_SD3_13 | chr6 | 29699619 | + | TCAGTGTGAT.CAGGCCAAGC | novel | C/T | unknown | intron | NM_021903 | GABBR1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30272_91_SD3_13 | chr6 | 29699619 | + | TCAGTGTGAT.CAGGCCAAGC | novel | C/T | unknown | intron | NM_001470 | GABBR1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30272_91_SD3_13 | chr6 | 29699619 | + | TCAGTGTGAT.CAGGCCAAGC | novel | C/T | unknown | intron | NM_021904 | GABBR1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30272_91_SD3_13 | chr6 | 29699619 | + | TCAGTGTGAT.CAGGCCAAGC | novel | C/T | unknown | intron | NM_021905 | GABBR1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30356_229_SD3_13 | chr10 | 78538369 | + | GCCTCTGCTG.GGTAGAATCC | novel | C/T | unknown | intron | NM_001014797 | KCNMA1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30356_229_SD3_13 | chr10 | 78538369 | + | GCCTCTGCTG.GGTAGAATCC | novel | C/T | unknown | intron | NM_002247 | KCNMA1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30357_36_SD3_13 | chr10 | 78520115 | + | TGCTAGCACC.CTGCTTTGCC | novel | G/A | unknown | intron | NM_001014797 | KCNMA1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30357_36_SD3_13 | chr10 | 78520115 | + | TGCTAGCACC.CTGCTTTGCC | novel | G/A | unknown | intron | NM_002247 | KCNMA1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30357_41_SD3_13 | chr10 | 78520120 | + | GCACCGCTGC.TTGCCTCACT | novel | A/T | unknown | intron | NM_001014797 | KCNMA1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30357_41_SD3_13 | chr10 | 78520120 | + | GCACCGCTGC.TTGCCTCACT | novel | A/T | unknown | intron | NM_002247 | KCNMA1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30360_141_SD3_13 | chr10 | 78509310 | + | CTCAAATGCT.CAGTATCACA | novel | T/G | unknown | coding_synon | NM_001014797 | KCNMA1 | Ile | Ile | 510 | ATC | 1 | N/A |
| EP_30360_141_SD3_13 | chr10 | 78509310 | + | CTCAAATGCT.CAGTATCACA | novel | T/G | unknown | coding_synon | NM_002247 | KCNMA1 | Ile | Ile | 510 | ATC | 1 | N/A |
| EP_30361_100_SD3_13 | chr10 | 78502875 | + | TCCCAGAAGA.ATGTTAAACA | novel | A/G | unknown | coding_synon | NM_001014797 | KCNMA1 | Arg | Arg | 579 | AGG | 1 | N/A |
| EP_30361_100_SD3_13 | chr10 | 78502875 | + | TCCCAGAAGA.ATGTTAAACA | novel | A/G | unknown | coding_synon | NM_002247 | KCNMA1 | Arg | Arg | 579 | AGG | 1 | N/A |
| EP_30364_213_SD3_13 | chr10 | 78448889 | + | CTTTCTGGCC.GGCTGTAGAC | novel | C/T | unknown | intron | NM_001014797 | KCNMA1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30364_213_SD3_13 | chr10 | 78448889 | + | CTTTCTGGCC.GGCTGTAGAC | novel | C/T | unknown | intron | NM_002247 | KCNMA1 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30365_125_SD3_13 | chr10 | 78441776 | + | AAGGCCTGTC.TGATGACATC | novel | A/T | unknown | coding_nonsynon | NM_001014797 | KCNMA1 | Asp | Asn | 687 | GAC | 1 | N/A |
| EP_30365_125_SD3_13 | chr10 | 78441776 | + | AAGGCCTGTC.TGATGACATC | novel | A/T | unknown | coding_nonsynon | NM_002247 | KCNMA1 | Asp | Asn | 683 | GAC | 1 | N/A |
| EP_30451_189_SD3_13 | chr2 | 165945950 | + | TACCTCGACC.GCTGTAAGAA | novel | T/C | unknown | coding_synon | NM_001040142 | SCN2A2 | Pro | Pro | 1516 | CCT | 3 | N/A |
| EP_30451_189_SD3_13 | chr2 | 165945950 | + | TACCTCGACC.GCTGTAAGAA | novel | T/C | unknown | coding_synon | NM_021007 | SCN2A2 | Pro | Pro | 1516 | CCT | 3 | N/A |
| EP_30451_189_SD3_13 | chr2 | 165945950 | + | TACCTCGACC.GCTGTAAGAA | novel | T/C | unknown | coding_synon | NM_001040143 | SCN2A2 | Pro | Pro | 1516 | CCT | 3 | N/A |
| EP_30451_253_SD3_13 | chr2 | 165946014 | + | TTCACAGCCC.AATTTCTAGA | novel | G/A | unknown | intron | NM_001040142 | SCN2A2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30451_253_SD3_13 | chr2 | 165946014 | + | TTCACAGCCC.AATTTCTAGA | novel | G/A | unknown | intron | NM_021007 | SCN2A2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30451_253_SD3_13 | chr2 | 165946014 | + | TTCACAGCCC.AATTTCTAGA | novel | G/A | unknown | intron | NM_001040143 | SCN2A2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30452_448_SD3_13 | chr2 | 165951820 | + | TGGTAAAAAT.TGTGTTTTAA | rs6724440 | A/G | by-cluster_by-frequency_by-2hit-2allele | intron | NM_001040142 | SCN2A2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30452_448_SD3_13 | chr2 | 165951820 | + | TGGTAAAAAT.TGTGTTTTAA | rs6724440 | A/G | by-cluster_by-frequency_by-2hit-2allele | intron | NM_021007 | SCN2A2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30452_448_SD3_13 | chr2 | 165951820 | + | TGGTAAAAAT.TGTGTTTTAA | rs6724440 | A/G | by-cluster_by-frequency_by-2hit-2allele | intron | NM_001040143 | SCN2A2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30452_82_SD3_13 | chr2 | 165951454 | + | ATTGAATTCG.TTTTTTTTAA | novel | A/T | unknown | intron | NM_001040142 | SCN2A2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30452_82_SD3_13 | chr2 | 165951454 | + | ATTGAATTCG.TTTTTTTTAA | novel | A/T | unknown | intron | NM_021007 | SCN2A2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30452_82_SD3_13 | chr2 | 165951454 | + | ATTGAATTCG.TTTTTTTTAA | novel | A/T | unknown | intron | NM_001040143 | SCN2A2 | N/A | N/A | N/A | N/A | N/A | N/A |
| EP_30453_254_SD3_13 | chr2 | 165953476 | + | GAATCCTACG.CTGATCAAAG | rs2060198 | T/A | by-cluster_by-frequency_by-2hit-2allele | coding_synon | NM_001040142 | SCN2A2 | Arg | Arg | 1638 | CGT | 3 | N/A |
| EP_30453_254_SD3_13 | chr2 | 165953476 | + | GAATCCTACG.CTGATCAAAG | rs2060198 | T/A | by-cluster_by-frequency_by-2hit-2allele | coding_synon | NM_021007 | SCN2A2 | Arg | Arg | 1638 | CGT | 3 | N/A |
| EP_30453_254_SD3_13 | chr2 | 165953476 | + | GAATCCTACG.CTGATCAAAG | rs2060198 | T/A | by-cluster_by-frequency_by-2hit-2allele | coding_synon | NM_001040143 | SCN2A2 | Arg | Arg | 1638 | CGT | 3 | N/A |
| EP_30454_289_SD3_13 | chr2 | 165953888 | + | CGCGGTCATC.TGGAGAACTT | novel | C/T | unknown | coding_synon | NM_001040142 | SCN2A2 | Leu | Leu | 1776 | CTG | 1 | N/A |
| EP_30454_289_SD3_13 | chr2 | 165953888 | + | CGCGGTCATC.TGGAGAACTT | novel | C/T | unknown | coding_synon | NM_021007 | SCN2A2 | Leu | Leu | 1776 | CTG | 1 | N/A |
| EP_30454_289_SD3_13 | chr2 | 165953888 | + | CGCGGTCATC.TGGAGAACTT | novel | C/T | unknown | coding_synon | NM_001040143 | SCN2A2 | Leu | Leu |