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Study ID | Variant ID | Variant Region type | Variant Call type | Sampleset ID | Method | Analysis ID | Validation | Variant samples | Subject phenotype | Clinical Interpretation | Assembly | Accession | Chr | Outer-Start | Start | Inner-Start | Inner-End | End | Outer-End | Placement Type | Remap Score |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
nstd76 | nssv1607650 | insertion | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000014.8 | 14 | 106483373 | 106484225 | Submitted genomic | |||||||||
nstd76 | nssv1607650 | insertion | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000014.8 | 14 | 106483373 | 106484225 | Submitted genomic | |||||||||
nstd76 | nssv1607650 | insertion | 1 | Sequencing | Sequence alignment | No | GRCh38.p12 | NC_000014.9 | 14 | 106017505 | 106018358 | Remapped | 1.00117 | ||||||||
nstd76 | nssv1607650 | insertion | 1 | Sequencing | Sequence alignment | No | GRCh38.p12 | NT_187600.1 | 14|NT_187600.1 | 485274 | 486127 | Remapped | 1.00117 | ||||||||
nstd76 | nssv1607651 | insertion | 2 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000014.8 | 14 | 106483362 | 106484225 | Submitted genomic | |||||||||
nstd76 | nssv1607651 | insertion | 2 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000014.8 | 14 | 106483362 | 106484225 | Submitted genomic | |||||||||
nstd76 | nssv1607651 | insertion | 2 | Sequencing | Sequence alignment | No | GRCh38.p12 | NC_000014.9 | 14 | 106017494 | 106018358 | Remapped | 1.00116 | ||||||||
nstd76 | nssv1607651 | insertion | 2 | Sequencing | Sequence alignment | No | GRCh38.p12 | NT_187600.1 | 14|NT_187600.1 | 485263 | 486127 | Remapped | 1.00116 | ||||||||
nstd76 | nssv1607652 | insertion | 2 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000014.8 | 14 | 106483362 | 106484225 | Submitted genomic | |||||||||
nstd76 | nssv1607652 | insertion | 2 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000014.8 | 14 | 106483362 | 106484225 | Submitted genomic | |||||||||
nstd76 | nssv1607652 | insertion | 2 | Sequencing | Sequence alignment | No | GRCh38.p12 | NC_000014.9 | 14 | 106017494 | 106018358 | Remapped | 1.00116 | ||||||||
nstd76 | nssv1607652 | insertion | 2 | Sequencing | Sequence alignment | No | GRCh38.p12 | NT_187600.1 | 14|NT_187600.1 | 485263 | 486127 | Remapped | 1.00116 | ||||||||
nstd76 | nssv1607653 | complex substitution | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000014.8 | 14 | 106531320 | 106569343 | Submitted genomic | |||||||||
nstd76 | nssv1607653 | complex substitution | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000014.8 | 14 | 106531320 | 106569343 | Submitted genomic | |||||||||
nstd76 | nssv1607653 | complex substitution | 1 | Sequencing | Sequence alignment | No | GRCh38.p12 | NC_000014.9 | 14 | 106075078 | 106112755 | Remapped | 0.9909 | ||||||||
nstd76 | nssv1607653 | complex substitution | 1 | Sequencing | Sequence alignment | No | GRCh38.p12 | NT_187600.1 | 14|NT_187600.1 | 542847 | 580524 | Remapped | 0.9909 | ||||||||
nstd76 | nssv1607654 | tandem duplication | 2 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000014.8 | 14 | 106716650 | 106717023 | 106727488 | 106727861 | Submitted genomic | |||||||
nstd76 | nssv1607654 | tandem duplication | 2 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000014.8 | 14 | 106716650 | 106717023 | 106727488 | 106727861 | Submitted genomic | |||||||
nstd76 | nssv1607654 | tandem duplication | 2 | Sequencing | Sequence alignment | No | GRCh38.p12 | NC_000014.9 | 14 | 106260053 | 106260053 | 106271265 | 106271265 | Remapped | 1.00009 | ||||||
nstd76 | nssv1607654 | tandem duplication | 2 | Sequencing | Sequence alignment | No | GRCh38.p12 | NT_187600.1 | 14|NT_187600.1 | 727822 | 727822 | 739034 | 739034 | Remapped | 1.00009 | ||||||
nstd76 | nssv1607655 | tandem duplication | 2 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000014.8 | 14 | 106716650 | 106717023 | 106727488 | 106727861 | Submitted genomic | |||||||
nstd76 | nssv1607655 | tandem duplication | 2 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000014.8 | 14 | 106716650 | 106717023 | 106727488 | 106727861 | Submitted genomic | |||||||
nstd76 | nssv1607655 | tandem duplication | 2 | Sequencing | Sequence alignment | No | GRCh38.p12 | NC_000014.9 | 14 | 106260053 | 106260053 | 106271265 | 106271265 | Remapped | 1.00009 | ||||||
nstd76 | nssv1607655 | tandem duplication | 2 | Sequencing | Sequence alignment | No | GRCh38.p12 | NT_187600.1 | 14|NT_187600.1 | 727822 | 727822 | 739034 | 739034 | Remapped | 1.00009 | ||||||
nstd76 | nssv1607656 | deletion | 2 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000014.8 | 14 | 106786254 | 106786503 | 106810964 | 106811213 | Submitted genomic | |||||||
nstd76 | nssv1607656 | deletion | 2 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000014.8 | 14 | 106786254 | 106786503 | 106810964 | 106811213 | Submitted genomic | |||||||
nstd76 | nssv1607656 | deletion | 2 | Sequencing | Sequence alignment | No | GRCh38.p12 | NC_000014.9 | 14 | 106330002 | 106330002 | 106355288 | 106355288 | Remapped | 1.0131 | ||||||
nstd76 | nssv1607656 | deletion | 2 | Sequencing | Sequence alignment | No | GRCh38.p12 | NT_187600.1 | 14|NT_187600.1 | 797771 | 797771 | 843898 | Remapped | 1.84808 | |||||||
nstd76 | nssv1607657 | insertion | 2 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000014.8 | 14 | 106804332 | 106804333 | Submitted genomic | |||||||||
nstd76 | nssv1607657 | insertion | 2 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000014.8 | 14 | 106804332 | 106804333 | Submitted genomic | |||||||||
nstd76 | nssv1607657 | insertion | 2 | Sequencing | Sequence alignment | No | GRCh38.p12 | NC_000014.9 | 14 | 106348408 | 106348409 | Remapped | 1 | ||||||||
nstd76 | nssv1607658 | complex substitution | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000014.8 | 14 | 106804332 | 106810878 | Submitted genomic | |||||||||
nstd76 | nssv1607658 | complex substitution | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000014.8 | 14 | 106804332 | 106810878 | Submitted genomic | |||||||||
nstd76 | nssv1607658 | complex substitution | 1 | Sequencing | Sequence alignment | No | GRCh38.p12 | NC_000014.9 | 14 | 106348408 | 106354953 | Remapped | 0.99985 | ||||||||
nstd76 | nssv1607658 | complex substitution | 1 | Sequencing | Sequence alignment | No | GRCh38.p12 | NT_187600.1 | 14|NT_187600.1 | 818646 | 842578 | Remapped | 3.65557 | ||||||||
nstd76 | nssv1607659 | insertion | 2 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000014.8 | 14 | 106877146 | 106877535 | Submitted genomic | |||||||||
nstd76 | nssv1607659 | insertion | 2 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000014.8 | 14 | 106877146 | 106877535 | Submitted genomic | |||||||||
nstd76 | nssv1607659 | insertion | 2 | Sequencing | Sequence alignment | No | GRCh38.p12 | NC_000014.9 | 14 | 106421232 | 106421627 | Remapped | 1.01538 | ||||||||
nstd76 | nssv1607660 | deletion | 2 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000014.8 | 14 | 106866357 | 106866414 | 106898992 | 106899047 | Submitted genomic | |||||||
nstd76 | nssv1607660 | deletion | 2 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000014.8 | 14 | 106866357 | 106866414 | 106898992 | 106899047 | Submitted genomic | |||||||
nstd76 | nssv1607660 | deletion | 2 | Sequencing | Sequence alignment | No | GRCh38.p12 | NC_000014.9 | 14 | 106410444 | 106410444 | 106443136 | 106443136 | Remapped | 1.00006 | ||||||
nstd76 | nssv1607661 | insertion | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000014.8 | 14 | 107174927 | 107174941 | Submitted genomic | |||||||||
nstd76 | nssv1607661 | insertion | 1 | Sequencing | Sequence alignment | No | GRCh37 (hg19) | NC_000014.8 | 14 | 107174927 | 107174941 | Submitted genomic | |||||||||
nstd76 | nssv1607661 | insertion | 1 | Sequencing | Sequence alignment | No | GRCh38.p12 | NC_000014.9 | 14 | 106719682 | 106719695 | Remapped | 0.93333 | ||||||||
nstd76 | nssv1607661 | insertion | 1 | Sequencing | Sequence alignment | No | GRCh38.p12 | NT_187600.1 | 14|NT_187600.1 | 1211360 | 1211374 | Remapped | 1 | ||||||||
nstd76 | nssv1607661 | insertion | 1 | Sequencing | Sequence alignment | No | GRCh38.p12 | NT_187600.1 | 14|NT_187600.1 | 1257853 | 1257866 | Remapped | 0.93333 |