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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| estd219 | essv16940802 | alu insertion | Merging | Merging | No | HG00125 | GRCh38.p12 | NC_000001.11 | 1 | 710330 | 710330 | Remapped | 1 | ||||||||
| estd219 | essv16940803 | alu insertion | Merging | Merging | No | HG00131 | GRCh38.p12 | NC_000001.11 | 1 | 710330 | 710330 | Remapped | 1 | ||||||||
| estd219 | essv16940804 | alu insertion | Merging | Merging | No | HG00154 | GRCh38.p12 | NC_000001.11 | 1 | 710330 | 710330 | Remapped | 1 | ||||||||
| estd219 | essv16940805 | alu insertion | Merging | Merging | No | HG00181 | GRCh38.p12 | NC_000001.11 | 1 | 710330 | 710330 | Remapped | 1 | ||||||||
| estd219 | essv16940806 | alu insertion | Merging | Merging | No | HG00183 | GRCh38.p12 | NC_000001.11 | 1 | 710330 | 710330 | Remapped | 1 | ||||||||
| estd219 | essv16940807 | alu insertion | Merging | Merging | No | HG00260 | GRCh38.p12 | NC_000001.11 | 1 | 710330 | 710330 | Remapped | 1 | ||||||||
| estd219 | essv16940808 | alu insertion | Merging | Merging | No | HG00273 | GRCh38.p12 | NC_000001.11 | 1 | 710330 | 710330 | Remapped | 1 | ||||||||
| estd219 | essv16940809 | alu insertion | Merging | Merging | No | HG00282 | GRCh38.p12 | NC_000001.11 | 1 | 710330 | 710330 | Remapped | 1 | ||||||||
| estd219 | essv16940810 | alu insertion | Merging | Merging | No | HG00308 | GRCh38.p12 | NC_000001.11 | 1 | 710330 | 710330 | Remapped | 1 | ||||||||
| estd219 | essv16940811 | alu insertion | Merging | Merging | No | HG00325 | GRCh38.p12 | NC_000001.11 | 1 | 710330 | 710330 | Remapped | 1 | ||||||||
| estd219 | essv16940812 | alu insertion | Merging | Merging | No | HG00339 | GRCh38.p12 | NC_000001.11 | 1 | 710330 | 710330 | Remapped | 1 | ||||||||
| estd219 | essv16940813 | alu insertion | Merging | Merging | No | HG00536 | GRCh38.p12 | NC_000001.11 | 1 | 710330 | 710330 | Remapped | 1 | ||||||||
| estd219 | essv16940814 | alu insertion | Merging | Merging | No | HG00554 | GRCh38.p12 | NC_000001.11 | 1 | 710330 | 710330 | Remapped | 1 | ||||||||
| estd219 | essv16940815 | alu insertion | Merging | Merging | No | HG00583 | GRCh38.p12 | NC_000001.11 | 1 | 710330 | 710330 | Remapped | 1 | ||||||||
| estd219 | essv16940816 | alu insertion | Merging | Merging | No | HG00637 | GRCh38.p12 | NC_000001.11 | 1 | 710330 | 710330 | Remapped | 1 | ||||||||
| estd219 | essv16940817 | alu insertion | Merging | Merging | No | HG01070 | GRCh38.p12 | NC_000001.11 | 1 | 710330 | 710330 | Remapped | 1 | ||||||||
| estd219 | essv16940818 | alu insertion | Merging | Merging | No | HG01072 | GRCh38.p12 | NC_000001.11 | 1 | 710330 | 710330 | Remapped | 1 | ||||||||
| estd219 | essv16940819 | alu insertion | Merging | Merging | No | HG01351 | GRCh38.p12 | NC_000001.11 | 1 | 710330 | 710330 | Remapped | 1 | ||||||||
| estd219 | essv16940820 | alu insertion | Merging | Merging | No | HG01675 | GRCh38.p12 | NC_000001.11 | 1 | 710330 | 710330 | Remapped | 1 | ||||||||
| estd219 | essv16940821 | alu insertion | Merging | Merging | No | HG01678 | GRCh38.p12 | NC_000001.11 | 1 | 710330 | 710330 | Remapped | 1 | ||||||||
| estd219 | essv16940822 | alu insertion | Merging | Merging | No | HG01682 | GRCh38.p12 | NC_000001.11 | 1 | 710330 | 710330 | Remapped | 1 | ||||||||
| estd219 | essv16940823 | alu insertion | Merging | Merging | No | HG01868 | GRCh38.p12 | NC_000001.11 | 1 | 710330 | 710330 | Remapped | 1 | ||||||||
| estd219 | essv16940824 | alu insertion | Merging | Merging | No | HG02040 | GRCh38.p12 | NC_000001.11 | 1 | 710330 | 710330 | Remapped | 1 | ||||||||
| estd219 | essv16940825 | alu insertion | Merging | Merging | No | HG02153 | GRCh38.p12 | NC_000001.11 | 1 | 710330 | 710330 | Remapped | 1 | ||||||||
| estd219 | essv16940826 | alu insertion | Merging | Merging | No | HG02231 | GRCh38.p12 | NC_000001.11 | 1 | 710330 | 710330 | Remapped | 1 | ||||||||
| estd219 | essv16940827 | alu insertion | Merging | Merging | No | HG02410 | GRCh38.p12 | NC_000001.11 | 1 | 710330 | 710330 | Remapped | 1 | ||||||||
| estd219 | essv16940828 | alu insertion | Merging | Merging | No | HG02690 | GRCh38.p12 | NC_000001.11 | 1 | 710330 | 710330 | Remapped | 1 | ||||||||
| estd219 | essv16940829 | alu insertion | Merging | Merging | No | HG03663 | GRCh38.p12 | NC_000001.11 | 1 | 710330 | 710330 | Remapped | 1 | ||||||||
| estd219 | essv16940830 | alu insertion | Merging | Merging | No | HG03899 | GRCh38.p12 | NC_000001.11 | 1 | 710330 | 710330 | Remapped | 1 | ||||||||
| estd219 | essv16940831 | alu insertion | Merging | Merging | No | NA18610 | GRCh38.p12 | NC_000001.11 | 1 | 710330 | 710330 | Remapped | 1 | ||||||||
| estd219 | essv16940832 | alu insertion | Merging | Merging | No | NA20532 | GRCh38.p12 | NC_000001.11 | 1 | 710330 | 710330 | Remapped | 1 | ||||||||
| estd219 | essv16940833 | alu insertion | Merging | Merging | No | NA20589 | GRCh38.p12 | NC_000001.11 | 1 | 710330 | 710330 | Remapped | 1 | ||||||||
| estd219 | essv16940834 | alu insertion | Merging | Merging | No | NA20752 | GRCh38.p12 | NC_000001.11 | 1 | 710330 | 710330 | Remapped | 1 | ||||||||
| estd219 | essv16940835 | alu insertion | Merging | Merging | No | NA20753 | GRCh38.p12 | NC_000001.11 | 1 | 710330 | 710330 | Remapped | 1 | ||||||||
| estd219 | essv16940836 | alu insertion | Merging | Merging | No | NA20870 | GRCh38.p12 | NC_000001.11 | 1 | 710330 | 710330 | Remapped | 1 | ||||||||
| estd219 | essv16940837 | duplication | Merging | Merging | No | HG00306 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940838 | duplication | Merging | Merging | No | HG00446 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940839 | duplication | Merging | Merging | No | HG00457 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940840 | duplication | Merging | Merging | No | HG00463 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940841 | duplication | Merging | Merging | No | HG00475 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940842 | duplication | Merging | Merging | No | HG00513 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940843 | duplication | Merging | Merging | No | HG00543 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940844 | duplication | Merging | Merging | No | HG00557 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940845 | duplication | Merging | Merging | No | HG00593 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940846 | duplication | Merging | Merging | No | HG00614 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940847 | duplication | Merging | Merging | No | HG00620 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940848 | duplication | Merging | Merging | No | HG00663 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940849 | duplication | Merging | Merging | No | HG00675 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940850 | duplication | Merging | Merging | No | HG00690 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940851 | duplication | Merging | Merging | No | HG00692 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940852 | duplication | Merging | Merging | No | HG00766 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940853 | duplication | Merging | Merging | No | HG00867 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940854 | duplication | Merging | Merging | No | HG00879 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940855 | duplication | Merging | Merging | No | HG01028 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940856 | duplication | Merging | Merging | No | HG01798 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940857 | duplication | Merging | Merging | No | HG01840 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940858 | duplication | Merging | Merging | No | HG01857 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940859 | duplication | Merging | Merging | No | HG01867 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940860 | duplication | Merging | Merging | No | HG01868 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940861 | duplication | Merging | Merging | No | HG01871 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940862 | duplication | Merging | Merging | No | HG02017 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940863 | duplication | Merging | Merging | No | HG02028 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940864 | duplication | Merging | Merging | No | HG02086 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940865 | duplication | Merging | Merging | No | HG02116 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940866 | duplication | Merging | Merging | No | HG02181 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940867 | duplication | Merging | Merging | No | HG02353 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940868 | duplication | Merging | Merging | No | HG02373 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940869 | duplication | Merging | Merging | No | HG02383 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940870 | duplication | Merging | Merging | No | HG02384 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940871 | duplication | Merging | Merging | No | HG02392 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940872 | duplication | Merging | Merging | No | HG02398 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940873 | duplication | Merging | Merging | No | HG02401 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940874 | duplication | Merging | Merging | No | HG02512 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940875 | duplication | Merging | Merging | No | HG04141 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940876 | duplication | Merging | Merging | No | NA18535 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940877 | duplication | Merging | Merging | No | NA18553 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940878 | duplication | Merging | Merging | No | NA18557 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940879 | duplication | Merging | Merging | No | NA18564 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940880 | duplication | Merging | Merging | No | NA18567 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940881 | duplication | Merging | Merging | No | NA18571 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940882 | duplication | Merging | Merging | No | NA18572 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940883 | duplication | Merging | Merging | No | NA18573 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940884 | duplication | Merging | Merging | No | NA18620 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940885 | duplication | Merging | Merging | No | NA18635 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940886 | duplication | Merging | Merging | No | NA18639 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940887 | duplication | Merging | Merging | No | NA18947 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940888 | duplication | Merging | Merging | No | NA18951 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940889 | duplication | Merging | Merging | No | NA18972 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940890 | duplication | Merging | Merging | No | NA18990 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940891 | duplication | Merging | Merging | No | NA19006 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940892 | duplication | Merging | Merging | No | NA19025 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940893 | duplication | Merging | Merging | No | NA19072 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940894 | duplication | Merging | Merging | No | NA19079 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940895 | duplication | Merging | Merging | No | NA19083 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16940896 | duplication | Merging | Merging | No | NA20359 | GRCh38.p12 | NC_000001.11 | 1 | 733100 | 733250 | 733400 | 914674 | 914824 | 914974 | Remapped | 1 | ||||
| estd219 | essv16941097 | copy number gain | Merging | Merging | No | NA21124 | GRCh38.p12 | NC_000001.11 | 1 | 777664 | 820586 | Remapped | 1 | ||||||||
| estd219 | essv16941098 | copy number gain | Merging | Merging | No | NA21125 | GRCh38.p12 | NC_000001.11 | 1 | 777664 | 820586 | Remapped | 1 | ||||||||
| estd219 | essv16941099 | copy number gain | Merging | Merging | No | NA21141 | GRCh38.p12 | NC_000001.11 | 1 | 777664 | 820586 | Remapped | 1 | ||||||||
| estd219 | essv16941100 | copy number gain | Merging | Merging | No | NA21143 | GRCh38.p12 | NC_000001.11 | 1 | 777664 | 820586 | Remapped | 1 | ||||||||
| estd219 | essv16941101 | copy number gain | Merging | Merging | No | NA21144 | GRCh38.p12 | NC_000001.11 | 1 | 777664 | 820586 | Remapped | 1 |