Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SLC6A12_chr12_185081_219157	197206	C C	CATCCATC others(985): Show CATCCATCCATCCATCCATCTATCCATCCATCTACCCATCCATCCATCCA TCCATCCATCCACCCATCCATCCATCCATCCATCCATCTATCCATCCATC CATCCATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCA TCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTACCCATC CATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCA TCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATC CATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATTCATCCATCCATCCATCCATCTACCCATCCATCCATCCATC CATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTA TCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCTAACCATCCA TCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATC TATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCA TCCATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCATCCATC CATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCTATCCA TCCATCCATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCATC CATCTACCCATCCATCCATCCATCCATCCATCCATCCATCCATCTACCCA TCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCCATCCATC TATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCAGTGTTGGT CCATCTACCATCCATCATCCTCCCCCTCCTCTTTCTCATGGTA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	224	0.0045	992	c.107 others(1009): Show c.1075+170_1075+171insTACCATGAGAAAGAGGAGGGGGAGGATG ATGGATGGTAGATGGACCAACACTGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGAATGGAT GGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGGTAGATGGATGGATGGATAGATGGATGGATAGATGGATGGAT AGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATAGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGAT GGATAGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATAGATGGATGGAT GGATGGATGGATGGATGGATGGTTAGATGGATGGATGGATGGATGGATGG ATGGATGGATAGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT GGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGAT GGATGAATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGAT GGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATAGATGGATGGATAGATGGATGGATAGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGAT GGGTGGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATAGATGG ATGGATGGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197206	C C	CATCCATC others(985): Show CATCCATCCATCCATCTATCCATCCATCTACCCATCCATCCATCCATCCA CCCATCCACCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCA TCTATCCATCCATCCATCCATCCATCCATCCATCCATCTACCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCA TCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATC CATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATTCATCCATCCATCCATCCATCTACCCATCCATCCATCCATC CATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTA TCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCTAACCATCCA TCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATC TATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCA TCCATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCATCCATC CATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCTATCCA TCCATCCATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCATC CATCTACCCATCCATCCATCCATCCATCCATCCATCCATCCATCTACCCA TCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCCATCCATC TATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCAGTGTTGGT CCATCTACCATCCATCATCCTCCCCCTCCTCTTTCTCATGGTA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	224	0.0045	992	c.107 others(1009): Show c.1075+170_1075+171insTACCATGAGAAAGAGGAGGGGGAGGATG ATGGATGGTAGATGGACCAACACTGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGAATGGAT GGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGGTAGATGGATGGATGGATAGATGGATGGATAGATGGATGGAT AGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATAGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGAT GGATAGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATAGATGGATGGAT GGATGGATGGATGGATGGATGGTTAGATGGATGGATGGATGGATGGATGG ATGGATGGATAGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT GGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGAT GGATGAATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGAT GGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGAT GGATGGATGGATAGATGGATGGATAGATGGATGGATAGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGAT GGATGGGTGGATGGGTGGATGGATGGATGGATGGGTAGATGGATGGATAG ATGGATGGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197206	C C	CATCCATC others(985): Show CATCCATCCATCCATCTATCCATCCATCTACCCATCCATCCATCCATCCA TCCATCCACCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCTA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCTACCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCA TCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATC CATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATTCATCCATCCATCCATCCATCTACCCATCCATCCATCCATC CATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTA TCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCTAACCATCCA TCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATC TATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCA TCCATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCA TCCATCCATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCATC CATCTACCCATCCATCCATCCATCCATCCATCCATCCATCCATCTACCCA TCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCCATCCATC TATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCAGTGTTGGT CCATCTACCATCCATCATCCTCCCCCTCCTCTTTCTCATGGTA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	224	0.0045	992	c.107 others(1009): Show c.1075+170_1075+171insTACCATGAGAAAGAGGAGGGGGAGGATG ATGGATGGTAGATGGACCAACACTGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGAATGGAT GGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGGTAGATGGATGGATGGATAGATGGATGGATAGATGGATGGAT AGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGAT GGATAGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATAGATGGATGGAT GGATGGATGGATGGATGGATGGTTAGATGGATGGATGGATGGATGGATGG ATGGATGGATAGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT GGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGAT GGATGAATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGAT GGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGAT GGATGGGTGGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATAG ATGGATGGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197206	C C	CATCCATC others(985): Show CATCCATCCATCCATCTATCCATCCATCTACCCATCCATCCATCCATCCA TCCATCCACCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCTACCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCA TCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATC CATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATTCATCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTA TCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCTAACCATCCA TCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATC TATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCA TCCATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCATCCATC CATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCTATCCA TCCATCCATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCATC CATCTACCCATCCATCCATCCATCCATCCATCCATCCATCCATCTACCCA TCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCCATCCATC TATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCAGTGTTGGT CCATCTACCATCCATCATCCTCCCCCTCCTCTTTCTCATGGTA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0103 a0002c0003t0001g0103	1	224	0.0045	992	c.107 others(1009): Show c.1075+170_1075+171insTACCATGAGAAAGAGGAGGGGGAGGATG ATGGATGGTAGATGGACCAACACTGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGAATGGAT GGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGGTAGATGGATGGATGGATAGATGGATGGATAGATGGATGGAT AGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATAGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGAT GGATAGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATAGATGGATGGAT GGATGGATGGATGGATGGATGGTTAGATGGATGGATGGATGGATGGATGG ATGGATGGATAGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT GGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGGAT GGATGGATGAATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATAGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGAT GGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGAT GGATGGGTGGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATAG ATGGATGGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197206	C C	CATCCATC others(985): Show CATCCATCCATCCATCTATCCATCCATCTACCCATCCATCCATCCATCCA TCCATCCACCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATC CATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCTA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTACCCATC CATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCA TCCATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATC CATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCA TCCATCCATTCATCCATCCATCCATCCATCTACCCATCCATCCATCCATC CATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTA TCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCTAACCATCCA TCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATC TATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCA TCCATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCATCCATC CATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCTATCCA TCCATCCATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCATC CATCTACCCATCCATCCATCCATCCATCCATCCATCCATCCATCTACCCA TCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCCATCCATC TATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCAGTGTTGGT CCATCTACCATCCATCATCCTCCCCCTCCTCTTTCTCATGGTA	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA19000.hp2 NA19003.hp2 HG00609.hp2 NA19000.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0163	3	226	0.0133	992	c.107 others(1009): Show c.1075+170_1075+171insTACCATGAGAAAGAGGAGGGGGAGGATG ATGGATGGTAGATGGACCAACACTGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGAATGGAT GGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGGTAGATGGATGGATGGATAGATGGATGGATAGATGGATGGAT AGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATAGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGAT GGATAGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATAGATGGATGGAT GGATGGATGGATGGATGGATGGTTAGATGGATGGATGGATGGATGGATGG ATGGATGGATAGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT GGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGAT GGATGAATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGG ATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGAT GGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATAGATGGATGGATAGATGGATGGATAGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGAT GGATGGGTGGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATAG ATGGATGGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197206	C C	CATCCATC others(985): Show CATCCATCCATCCATCTATCCATCCATCTACCCATCCATCCATCCATCCA TCCATCCACCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATC CATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCTA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCTACCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCA TCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATC CATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATTCATCCATCCATCCATCCATCTACCCATCCATCCATCCATC CATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTA TCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCTAACCATCCA TCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATC TATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCA TCCATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCATCCATC CATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCTATCCA TCCATCCATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCATC CATCTACCCATCCATCCATCCATCCATCCATCCATCCATCCATCTACCCA TCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCCATCCATC TATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCAGTGTTGGT CCATCTACCATCCATCATCCTCCCCCTCCTCTTTCTCATGGTA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02027.hp2 HG02135.hp2 others(2): Show HG01517.hp1 HG02027.hp2 HG02135.hp2 HG03654.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0176 a0001c0001t0001g0204 a0001c0001t0001g0297 others(2): Show a0001c0001t0001g0176 a0001c0001t0001g0204 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0002g0187	5	228	0.0219	992	c.107 others(1009): Show c.1075+170_1075+171insTACCATGAGAAAGAGGAGGGGGAGGATG ATGGATGGTAGATGGACCAACACTGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGAATGGAT GGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGGTAGATGGATGGATGGATAGATGGATGGATAGATGGATGGAT AGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATAGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGAT GGATAGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATAGATGGATGGAT GGATGGATGGATGGATGGATGGTTAGATGGATGGATGGATGGATGGATGG ATGGATGGATAGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT GGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGAT GGATGAATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGAT GGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATAGATGGATGGATAGATGGATGGATAGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGAT GGATGGGTGGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATAG ATGGATGGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197206	C C	CATCCATC others(985): Show CATCCATCCATCCATCTATCCATCCATCTACCCATCCATCCATCCATCCA TCCATCCACCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATC CATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCTA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCTACCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCA TCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATC CATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATTCATCCATCCATCCATCCATCTACCCATCCATCCATCCATC CATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTA TCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCTAACCATCCA TCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATC TATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCA TCCATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCATCCATC CATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCTATCCA TCCATCCATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCATC CATCTACCCATCCATCCATCCATCCATCCATCCATCCATCCATCTACCCA TCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCCATCCGTC TATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCAGTGTTGGT CCATCTACCATCCATCATCCTCCCCCTCCTCTTTCTCATGGTA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	224	0.0045	992	c.107 others(1009): Show c.1075+170_1075+171insTACCATGAGAAAGAGGAGGGGGAGGATG ATGGATGGTAGATGGACCAACACTGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATAGACGGATGGATGGATGGATGGATGGATGAATGGAT GGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGGTAGATGGATGGATGGATAGATGGATGGATAGATGGATGGAT AGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATAGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGAT GGATAGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATAGATGGATGGAT GGATGGATGGATGGATGGATGGTTAGATGGATGGATGGATGGATGGATGG ATGGATGGATAGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT GGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGAT GGATGAATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGAT GGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATAGATGGATGGATAGATGGATGGATAGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGAT GGATGGGTGGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATAG ATGGATGGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197206	C C	CATCCATC others(985): Show CATCCATCCATCCATCTATCCATCCATCTACCCATCCATCCATCCATCCA TCCATCCACCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATC CATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCTA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCTACCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCA TCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATC CATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCA TCCATTCATCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTA TCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCTAACCATCCA TCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATC TATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCA TCCATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCATCCATC CATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCTATCCA TCCATCCATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCATC CATCTACCCATCCATCCATCCATCCATCCATCCATCCATCCATCTACCCA TCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCCATCCATC TATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCAGTGTTGGT CCATCTACCATCCATCATCCTCCCCCTCCTCTTTCTCATGGTA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03486.hp1 NA18906.hp1 HG00642.hp1 HG03486.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0347 a0001c0001t0002g0047 a0001c0001t0002g0198 a0001c0001t0001g0347 a0001c0001t0002g0047 a0001c0001t0002g0198	3	226	0.0133	992	c.107 others(1009): Show c.1075+170_1075+171insTACCATGAGAAAGAGGAGGGGGAGGATG ATGGATGGTAGATGGACCAACACTGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGAATGGAT GGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGGTAGATGGATGGATGGATAGATGGATGGATAGATGGATGGAT AGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATAGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGAT GGATAGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATAGATGGATGGAT GGATGGATGGATGGATGGATGGTTAGATGGATGGATGGATGGATGGATGG ATGGATGGATAGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT GGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGGAT GGATGGATGAATGGATGGATGGATGGATGGATGGATGGATGGATGGATAG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGAT GGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATAGATGGATGGATAGATGGATGGATAGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGAT GGATGGGTGGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATAG ATGGATGGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197206	C C	CATCCATC others(985): Show CATCCATCCATCCATCTATCCATCCATCTACCCATCCATCCATCCATCCA TCCATCCACCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATC CATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCTA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCTACCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCA TCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATC CATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATTCATCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTA TCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCTAACCATCCA TCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATC TATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCA TCCATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCATCCATC CATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCTATCCA TCCATCCATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCATC CATCTACCCATCCATCCATCCATCCATCCATCCATCCATCCATCTACCCA TCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCCATCCATC TATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCAGTGTTGGT CCATCTACCATCCATCATCCTCCCCCTCCTCTTTCTCATGGTA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	224	0.0045	992	c.107 others(1009): Show c.1075+170_1075+171insTACCATGAGAAAGAGGAGGGGGAGGATG ATGGATGGTAGATGGACCAACACTGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGAATGGAT GGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGGTAGATGGATGGATGGATAGATGGATGGATAGATGGATGGAT AGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATAGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGGAT GGATAGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATAGATGGATGGAT GGATGGATGGATGGATGGATGGTTAGATGGATGGATGGATGGATGGATGG ATGGATGGATAGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT GGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGGAT GGATGGATGAATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATAGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGAT GGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATAGATGGATGGATAGATGGATGGATAGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGAT GGATGGGTGGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATAG ATGGATGGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197206	C C	CATCCATC others(985): Show CATCCATCCATCCATCTATCCATCCATCTACCCATCCATCCATCCATCCA TCCATCCACCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATC CATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCTA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCTACCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCA TCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATC CATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATTCATCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCA TCTATCCATCCATCCATCCATCCATCTATCCATCCATCTATCCATCCATC TATCCATCCATCCATCCATCCATCCATCCATCCATCTAACCATCCATCCA TCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCTATC CATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCA TCCATCTATCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATC CATCCATCCATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCA TCCATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCATCCATC TACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTACCCA TCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCCATCCATC TATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCAGTGTTGGT CCATCTACCATCCATCATCCTCCCCCTCCTCTTTCTCATGGTA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	224	0.0045	992	c.107 others(1009): Show c.1075+170_1075+171insTACCATGAGAAAGAGGAGGGGGAGGATG ATGGATGGTAGATGGACCAACACTGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGAATGGAT GGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGGTAGATGGATGGATGGATAGATGGATGGATAGATGGAT GGATAGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATAG ATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGAT GGATGGATAGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATAGATGGAT GGATGGATGGATGGATGGATGGATGGTTAGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATAGATGGATGGATAGATGGATGGAT GGATGGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGGAT GGATGGATGAATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATAGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGAT GGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATAGATGGATGGATAGATGGATGGATAGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATGGATGGAT GGATGGGTGGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATAG ATGGATGGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
THBS2_chr6_169210785_169258846	169242677	T T	TTCCCACC others(985): Show TTCCCACCACTCCCACCTTCCCACCACTCCCACCTTCCCACCACTCCCAC CTTCCCACCTTCCCATCTTCCCACCTTCCCACCACTCCCACCTTCCCACC TTCCCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCATCTTCCCATCT TCCCACCACTCCCACCACTCCCACCTTCCCACCTTCCCACCTTCCCACCA CTCCCACCTTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACCT TCCCATCTTCCCATCTTCCCACCTTCCCACCACTCCCACCTTCCCACCTT CCCACCACTCCCACCTTCCCACCTTCCCACCTTCCCACCGCTCCCACCTT CCCACCTTCCCATCTTCCCATCTTCCCACCTTCCCACCACTCCCACCTTC CCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCATCTTCC CATCTTCCCACCACTCCCACCACTCCCACCTTCCCACCTTCCCACCTTCC CACCACTCCCACCTTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCC CACCTTCCCATCTTCCCATCTTCCCACCTTCCCACCACTCCCACCTTCCC ACCTTCCCACCACTCCCACCTTCCCACCTTCCCACCTTCCCACCGCTCCC ACCTTCCCACCTTCCCATCTTCCCATCTTCCCACCTTCCCACCACTCCCA CCTTCCCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCATCTTCCCAT CTTCCCACCACTCCCACCACTCCCACCTTCCCACCTTCCCACCTTCCCAC CACTCCCACCTTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCAC CTTCCCATCTTCCCATCTTCCCACCTTCCCACCACTCCCACCTTCCCACC TTCCCACCGCTCCCACCTTCCCACCTTCCCACCTTCCCACCGCTCCCACC TTCCCACCTTCCCATCTTCCCATCTTCCCACCACTCCCACCAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0014 a0001c0019t0014	a0001c0019t0014g0310 a0001c0019t0014g0310	1	392	0.0026	992	c.695 others(1007): Show c.695-720_695-719insGTGGTGGGAGTGGTGGGAAGATGGGAAGAT GGGAAGGTGGGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGGGAAGGTG GGAGCGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGATG GGAAGATGGGAAGGTGGGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGG GAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAGTGGTGG GAGTGGTGGGAAGATGGGAAGATGGGAAGGTGGGAAGGTGGGAGCGGTGG GAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGATGGGAAGATGGG AAGGTGGGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGA GTGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGATGGGA AGATGGGAAGGTGGGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGGGAA GGTGGGAGTGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAG TGGTGGGAAGATGGGAAGATGGGAAGGTGGGAAGGTGGGAGCGGTGGGAA GGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGATGGGAAG ATGGGAAGGTGGGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGGGAAGG TGGGAGTGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGA TGGGAAGATGGGAAGGTGGGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGT GGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAGTGGT GGGAGTGGTGGGAAGATGGGAAGATGGGAAGGTGGGAAGGTGGGAGCGGT GGGAAGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGATG GGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAGTGGTGGGAAGGTG GGAGTGGTGGGA	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
TMEM132D_chr12_129066726_129909025	129828754	G G	GGGAGGAA others(985): Show GGGAGGAAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAG GAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGG AAGGAAAGGAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAG GGAGGAAAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAAGG AGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAG GGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGGAGGA AAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGG AGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAGAAAG GAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGG GAGGAAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGA GGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGG AGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAG GGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGG AGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGAAGGGAGGGAG GGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGGAAGGGAGGG AGGGAGAAGGAAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAGG GAGGGAGGGAGGGGAGGAAAGGAGGGAGGGAGGGAGAAGAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0020 a0001c0001t0007g0020	1	64	0.0156	992	c.79+ others(1009): Show c.79+74506_79+74507insTTTTCTTCTCCCTCCCTCCCTCCTTTCC TCCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCT CCCTTCCTTCTCCCTCCCTCCCTTCCTCCTTTCCTCCCTCCCTCCCTCCC TCCTTTCCTCCCTCCCTCCCTCCCTTCCTCCTTTCCTCCCTCCCTCCCTC CCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCC TCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTC CTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCT TTCCTCCCTCCCTCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTTCCTCC CTCCCTCCTTTCCTCCCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCC TTTCCTCCCTCCCTCCTTTCTCCTCCCTCCCTCCCTCCTTTCCTCCCTCC CTCCTTTCCTCCCTCCCTCCCTCCTCCTTTCCTCCCTCCCTCCCTCCTTT CCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCC TCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTC CCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTCCC TCCCTCCCTCCCTCCCTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTC CCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTC CCTCCTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCT CCCTCCTTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTCC CTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCT CCCTCCTTTCCTCC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TTLL8_chr22_50013575_50063298	50029061	A A	ACCCCACA others(985): Show ACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCAC ACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACACT CGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAG ACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCAT CACACCGTCCTAAAGACCCCCACACACACTCGTAAAGACCCCATCACACC ATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGA AGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCC ACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACC CTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACACACCCTCGTA AAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCC CATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCCATCACA CCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCT GAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACC CCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACA CCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGT AAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACC CCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCAC ACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCC TGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGAC CCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGAC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0001 a0013c0014t0001	a0013c0014t0001g0078 a0013c0014t0001g0078	1	179	0.0056	992	c.225 others(1011): Show c.2251+1368_2251+1369insGTCTTCAGGACGGTGTGATGGGGTCT TTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAG GGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGT GGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCT TCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGAC GGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGA TGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTC TTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGA GGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTG TGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTC TTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGA CGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGGTCTTCAGGACGGTGT GATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGG TCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTAC GAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTG TGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGG GTCTTTAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCA GGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGT GTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGG GGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTT ACGAGGGTGTGTGGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
UNC5C_chr4_95157504_95553973	95196816	T T	TATATTTA others(985): Show TATATTTATATATTATATTTATGTAATATATAATATTTATATATTATATT TATGTAATATATAATATTTATATATTATATTTATGTAATATATTATATTT ATATATTATATTTATGTAATATATTATATTTATATATTATATTTATGTAA TATATTATATTTATATATTATATTTATGTAATATATTATATTTATATATT ATATTTATGTAATATATTATATTTATATATTATATTTATGTAATATATTA TATTTATATATTATATTTATGTAATATATTATATTTATATATTATATTTA TGTAATATATTATATTTATATATTATATTTATGTAATATATTATATTTAT ATATTATATTTATGTAATATATTATATTTATATATTATATTTATGTAATA TATTATATTTATATATTATATTTATGTAATATATTATATTTATATATTAT ATTTATGTAATATATTATATTTATATATTATATTTATGTAATATATTATA TTTATATATTATATTTATGTAATATATTATATTTATATATTATATTTATG TAATATATTATATTTATATATTATATTTATGTAATATATAATATTTATAT ATTATATTTATGTAATATATAATATTTATATATTATATTTATGTAATATA TAATATTTATATATTATATTTATGTAATATATAATATTTATATATTATAT TTATGTAATATATAATATTTATATATTATATTTATGTAATATATAATATT TATATATTATATTTATGTAATATATAATATTTATATATTATATTTATGTA ATATATAATATTTATATATTATATTTATGTAATATATAATATTTATATAT TATATTTATGTAATATATAATATTTATATATTATATTTATGTAATATATA ATATTTATATATTATATTTATGTAATATATAATATTTATATATTATATTT ATGTAATATATAATATTTATATATTATATTTATGTAATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0010 a0001c0019t0010	a0001c0019t0010g0055 a0001c0019t0010g0055	1	202	0.0050	992	c.213 others(1011): Show c.2136+5914_2136+5915insTATATATTACATAAATATAATATATA AATATTATATATTACATAAATATAATATATAAATATTATATATTACATAA ATATAATATATAAATATTATATATTACATAAATATAATATATAAATATTA TATATTACATAAATATAATATATAAATATTATATATTACATAAATATAAT ATATAAATATTATATATTACATAAATATAATATATAAATATTATATATTA CATAAATATAATATATAAATATTATATATTACATAAATATAATATATAAA TATTATATATTACATAAATATAATATATAAATATTATATATTACATAAAT ATAATATATAAATATTATATATTACATAAATATAATATATAAATATTATA TATTACATAAATATAATATATAAATATTATATATTACATAAATATAATAT ATAAATATAATATATTACATAAATATAATATATAAATATAATATATTACA TAAATATAATATATAAATATAATATATTACATAAATATAATATATAAATA TAATATATTACATAAATATAATATATAAATATAATATATTACATAAATAT AATATATAAATATAATATATTACATAAATATAATATATAAATATAATATA TTACATAAATATAATATATAAATATAATATATTACATAAATATAATATAT AAATATAATATATTACATAAATATAATATATAAATATAATATATTACATA AATATAATATATAAATATAATATATTACATAAATATAATATATAAATATA ATATATTACATAAATATAATATATAAATATAATATATTACATAAATATAA TATATAAATATAATATATTACATAAATATAATATATAAATATAATATATT ACATAAATATAATATATAAATATAATATATTACATAAATATAATATATAA ATATTATATATTACATAAATATAATATATAAATATTATATATTACATAAA TATAATATATAAATAT	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(986): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGG ATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGAGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAG GGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGA AGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGAGGGAGGG AGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGG GAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGA GGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGG ATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGG AGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGG GAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAG GGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGAGGGAGGGAGGGATGGGA GGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGG AGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0048 a0003c0013t0048	a0003c0013t0048g0143 a0003c0013t0048g0143	1	25	0.0400	993	c.259 others(1014): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCCCTCCTTTCCT TCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCC CTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTC CCTCCCATCCCTCCCTCCCTCCCTCCTTTCCTTCCCTCCCTCCCTCCCAT CCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCC TCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTC CTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCAT CCTTTCCTTCTCTCCCACCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCC TCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCCTCCCTCCCTCCTTTCCTTCCCTCCCTC CCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCT TCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCC CTCCCTCCCTCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTC CTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCAT CCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCC TCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCTTTCCTTC TCTCCCACCCTCCCATCCCTCCTTTCCTTCCCACCCTCCCATCCCTCCTT TCCTTCCCTCCCTCCCATCTCTCCTTTCCTTCCCCTCCCTCCCTCCCATC CCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ALDH7A1_chr5_126536841_126600219	126584671	A A	AAAAAAAA others(986): Show AAAAAAAAAAAAAGGTTGGCAGGAAAAATCTCTAAGGAGGTAATATTGAA GCTGAAACCTGAAGAATGGGAAAAGTAAGCCATAGGAATATTCTTCCCAG GGATAAGGAAAAAACATATAAGAGGGATCCATGGAAAATAAAAGGGGCTG ACTGGGAAGACCAGTATGTCTAAAGCTAGAAGCTTGTAAGGTGTTGGAAT CTTACTCCAGGTGCAATGTGAAGTCTTGAATGTCTTTTAAGGTGCAGAAT AAGAAGATTTGCTTTATCTTTTAATATCGCTATGTGATAGGTAGAGGATA CATTGAAGGGGAAAAGAGTAGAAGCAGGGAGATCAATTAAGAATGTATTA TAGGCCAGGCGCAGTGGTACATGCCTGTAATCCCAGGACTTCGGGAGGCC GAGGTGGGTGGATCACCTGAGGTCAGCAGATCAAGACCAGCCTGGCCAAC ACGGGGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCAGGACGTTGT GGTGGGCACCTGTAATCCCAGCTACTTGAGAGGCTAAGGCAGGAGAATCA CTGGAACCCGGGAGGCGGAGGTTGCAGTGAAACGAGATCATGCCACTGCA CTCCAGCCTGGGCAACAAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAA AAAAAGATTATAGTGACTTAGTCTTAAGATTGCAGTGGTGGCCGGGCGCG GTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGAT CACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCAT CTCTACTAAAAATACAAAAAATTAGCAGGGCGTGGTGGCAGGCGCCTGTA GTCCCAGCTACTCGGGAGGCTGAGGCAGGTGAATGGCGTGAACCCGGGAG GTGGAGTTTGCAATAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCA TCAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0283 a0001c0001t0006g0283	1	328	0.0030	993	c.313 others(1008): Show c.313-660_313-659insCTTTTTTTTTTTTTTTTTTTTTTTGAGATG GAGTCTCGCTCTGATGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTT ATTGCAAACTCCACCTCCCGGGTTCACGCCATTCACCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCTGCTAATTTTTTG TATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCACCACTGCAATCTTAAGACTAAGTC ACTATAATCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTTGT TGCCCAGGCTGGAGTGCAGTGGCATGATCTCGTTTCACTGCAACCTCCGC CTCCCGGGTTCCAGTGATTCTCCTGCCTTAGCCTCTCAAGTAGCTGGGAT TACAGGTGCCCACCACAACGTCCTGCTAATTTTTGTATTTTTAGTAGAGA CGAGGTTTCCCCGTGTTGGCCAGGCTGGTCTTGATCTGCTGACCTCAGGT GATCCACCCACCTCGGCCTCCCGAAGTCCTGGGATTACAGGCATGTACCA CTGCGCCTGGCCTATAATACATTCTTAATTGATCTCCCTGCTTCTACTCT TTTCCCCTTCAATGTATCCTCTACCTATCACATAGCGATATTAAAAGATA AAGCAAATCTTCTTATTCTGCACCTTAAAAGACATTCAAGACTTCACATT GCACCTGGAGTAAGATTCCAACACCTTACAAGCTTCTAGCTTTAGACATA CTGGTCTTCCCAGTCAGCCCCTTTTATTTTCCATGGATCCCTCTTATATG TTTTTTCCTTATCCCTGGGAAGAATATTCCTATGGCTTACTTTTCCCATT CTTCAGGTTTCAGCTTCAATATTACCTCCTTAGAGATTTTTCCTGCCAAC CTTTTTTTTTTTT	ALDH7A1	ENSG00000164904.18	transcript	ENST00000409134.8	protein_coding	3/17			chr5	TogoVar
ALDH7A1_chr5_126536841_126600219	126584671	A A	AAAAAAAA others(986): Show AAAAAAAAAAAAAGGTTGGCAGGAAAAATCTCTAAGGAGGTAATATTGAA GCTGAAACCTGAAGAATGGGAAAAGTAAGCCATAGGAATATTCTTCCCAG GGATAAGGAAAAAACATATAAGAGGGATCCATGGAAAATAAAAGGGGCTG ACTGGGAAGACCAGTATGTCTAAAGCTAGAAGCTTGTAAGGTGTTGGAAT CTTACTCCAGGTGCAATGTGAAGTCTTGAATGTCTTTTAAGGTGCAGAAT AAGAGGATTTGCTTTATCTTTTAATATCGCTATGTGATAGGTAGAGGATA CATTGAAGGGGAAAAGAGTAGAAGCAGGGAGATCAATTAAGAATGTATTA TAGGCCAGGCGCAGTGGTACATGCCTGTAATCCCAGGACTTCGGGAGGCC GAGGTGGGTGGATCACCTGAGGTCAGCAGATCAAGACCAGCCTGGCCAAC ACGGGGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCAGGACGTTGT GGTGGGCACCTGTAATCCCAGCTACTTGAGAGGCTAAGGCAGGAGAATCA CTGGAACCCGGGAGGCGGAGGTTGCAGTGAAACGAGATCATGCCACTGCA CTCCAGCCTGGGCAACAAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAA AAAAAGATTATAGTGACTTAGTCTTAAGATTGCAGTGGTGGCCGGGCGCG GTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGAT CACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCAT CTCTACTAAAAATACAAAAAATTAGCAGGGCGTGGTGGCAGGCGCCTGTA GTCCCAGCTACTCGGGAGGCTGAGGCAGGTGAATGGCGTGAACCCGGGAG GTGGAGTTTGCAATAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCA TCAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01496.hp1 HG02257.hp2 others(4): Show HG01433.hp2 HG01496.hp1 HG02257.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0014 a0001c0001t0019 a0002c0002t0001	a0001c0001t0001g0278 a0001c0001t0002g0281 a0001c0001t0004g0279 others(4): Show a0001c0001t0001g0278 a0001c0001t0002g0281 a0001c0001t0004g0279 a0001c0001t0006g0286 a0001c0001t0014g0282 a0001c0001t0019g0280 a0002c0002t0001g0359	7	334	0.0210	993	c.313 others(1008): Show c.313-660_313-659insCTTTTTTTTTTTTTTTTTTTTTTTGAGATG GAGTCTCGCTCTGATGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTT ATTGCAAACTCCACCTCCCGGGTTCACGCCATTCACCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCTGCTAATTTTTTG TATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCACCACTGCAATCTTAAGACTAAGTC ACTATAATCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTTGT TGCCCAGGCTGGAGTGCAGTGGCATGATCTCGTTTCACTGCAACCTCCGC CTCCCGGGTTCCAGTGATTCTCCTGCCTTAGCCTCTCAAGTAGCTGGGAT TACAGGTGCCCACCACAACGTCCTGCTAATTTTTGTATTTTTAGTAGAGA CGAGGTTTCCCCGTGTTGGCCAGGCTGGTCTTGATCTGCTGACCTCAGGT GATCCACCCACCTCGGCCTCCCGAAGTCCTGGGATTACAGGCATGTACCA CTGCGCCTGGCCTATAATACATTCTTAATTGATCTCCCTGCTTCTACTCT TTTCCCCTTCAATGTATCCTCTACCTATCACATAGCGATATTAAAAGATA AAGCAAATCCTCTTATTCTGCACCTTAAAAGACATTCAAGACTTCACATT GCACCTGGAGTAAGATTCCAACACCTTACAAGCTTCTAGCTTTAGACATA CTGGTCTTCCCAGTCAGCCCCTTTTATTTTCCATGGATCCCTCTTATATG TTTTTTCCTTATCCCTGGGAAGAATATTCCTATGGCTTACTTTTCCCATT CTTCAGGTTTCAGCTTCAATATTACCTCCTTAGAGATTTTTCCTGCCAAC CTTTTTTTTTTTT	ALDH7A1	ENSG00000164904.18	transcript	ENST00000409134.8	protein_coding	3/17			chr5	TogoVar
ALDH7A1_chr5_126536841_126600219	126584671	A A	AAAAAAAA others(986): Show AAAAAAAAAAAAGGTTGGCAGGAAAAATCTCTAAGGAGGTAATATTGAAG CTGAAACCTGAAGAATGGGAAAAGTAAGCCATAGGAATATTCTTCCCAGG GATAAGGAAAAAACATATAAGAGGGATCCATGGAAAATAAAAGGGGCTGA CTGGGAAGACCAGTATGTCTAAAGCTAGAAGCTTGTAAGGTGTTGGAATC TTACTCCAGGTGCAATGTGAAGTCTTGAATGTCTTTTAAGGTGCAGAATA AGAGGATTTGCTTTATCTTTTAATATCGCTATGTGATAGGTAGAGGATAC ATTGAAGGGGAAAAGAGTAGAAGCAGGGAGATCAATTAAGAATGTATTAT AGGCCAGGCGCAGTGGTACATGCCTGTAATCCCAGGACTTCGGGAGGCCG AGGTGGGTGGATCACCTGAGGTCAGCAGATCAAGACCAGCCTGGCCAACA CGGGGAAACCTCGTCTCTACTAAAAATACAAAAATTAGCAGGACGTTGTG GTGGGCACCTGTAATCCCAGCTACTTGAGAGGCTAAGGCAGGAGAATCAC TGGAACCCGGGAGGCGGAGGTTGCAGTGAAACGAGATCATGCCACTGCAC TCCAGCCTGGGCAACAAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAA AAAAAGATTATAGTGACTTAGTCTTAAGATTGCAGTGGTGGCCGGGCGCG GTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGAT CACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCCCAT CTCTACTAAAAATACAAAAAATTAGCAGGGCGTGGTGGCAGGCGCCTGTA GTCCCAGCTACTCGGGAGGCTGAGGCAGGTGAATGGCGTGAACCCGGGAG GTGGAGTTTGCAATAAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCA TCAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0111 a0001c0001t0021g0111	1	328	0.0030	993	c.313 others(1008): Show c.313-660_313-659insCTTTTTTTTTTTTTTTTTTTTTTTGAGATG GAGTCTCGCTCTGATGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTT ATTGCAAACTCCACCTCCCGGGTTCACGCCATTCACCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCTGCTAATTTTTTG TATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCACCACTGCAATCTTAAGACTAAGTC ACTATAATCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTTG TTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGTTTCACTGCAACCTCCG CCTCCCGGGTTCCAGTGATTCTCCTGCCTTAGCCTCTCAAGTAGCTGGGA TTACAGGTGCCCACCACAACGTCCTGCTAATTTTTGTATTTTTAGTAGAG ACGAGGTTTCCCCGTGTTGGCCAGGCTGGTCTTGATCTGCTGACCTCAGG TGATCCACCCACCTCGGCCTCCCGAAGTCCTGGGATTACAGGCATGTACC ACTGCGCCTGGCCTATAATACATTCTTAATTGATCTCCCTGCTTCTACTC TTTTCCCCTTCAATGTATCCTCTACCTATCACATAGCGATATTAAAAGAT AAAGCAAATCCTCTTATTCTGCACCTTAAAAGACATTCAAGACTTCACAT TGCACCTGGAGTAAGATTCCAACACCTTACAAGCTTCTAGCTTTAGACAT ACTGGTCTTCCCAGTCAGCCCCTTTTATTTTCCATGGATCCCTCTTATAT GTTTTTTCCTTATCCCTGGGAAGAATATTCCTATGGCTTACTTTTCCCAT TCTTCAGGTTTCAGCTTCAATATTACCTCCTTAGAGATTTTTCCTGCCAA CCTTTTTTTTTTT	ALDH7A1	ENSG00000164904.18	transcript	ENST00000409134.8	protein_coding	3/17			chr5	TogoVar
ARHGAP39_chr8_144524179_144690846	144687192	C C	CCCCCGTG others(986): Show CCCCCGTGACCACACATTTACAGTGAACACTTCCCACCCCGTGACCACAC ACTAGCAGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGCGAGCAC TTCCCACCCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGA CCACACACTAGCGGCGAGCACTTCCCACCCCCGTGACCACACACTAGCAG TGAGCACTTCCCACCCCGTGACCACACACTAGCGGCGAGCACTTCCCACC CCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCCGTGACCACACA CTAGCAGTGAGCACTTCCCACCCCCGTGACCACACATTTACAGTGAACAC TTCCCACCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGAC CACACACTAGCAGTGAGCACTTCCCACCCCCGTGACCACACATTTACAGT GAACACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCC CGTGACCACACACTAGCAGTGAGCACTTCCCACCCCCGTGACCACACACT AGCAGTGAGCACTTCCCACCCCCGTGACCACACATTTACAGTGAACACTT CCCACCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCA CACACTAGCGGCGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGA GCACTTCCCACCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCG TGACCACACACTAGCGGCGAGCACTTCCCACCCCCGTGACCACACACTGG CGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGCGAGCACTTCCC ACCCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGACCAC GCACTAGCAGTGAGCACTTCCCACCCCCGTGACCACACATTTACAGTGAA CACTTCCCACCCCGTGACCACACACTAGCAGTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	211	0.0047	993	c.-15 others(1004): Show c.-1589_-1588insTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGG GTGGGAAGTGTTCACTGTAAATGTGTGGTCACGGGGGTGGGAAGTGCTCA CTGCTAGTGCGTGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGG TCACGGGGGTGGGAAGTGCTCGCCGCTAGTGTGTGGTCACGGGGTGGGAA GTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCCGCTAG TGTGTGGTCACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGG TGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCGC CGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTC ACGGGGTGGGAAGTGTTCACTGTAAATGTGTGGTCACGGGGGTGGGAAGT GCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACTGCTAGTG TGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTG GGAAGTGTTCACTGTAAATGTGTGGTCACGGGGGTGGGAAGTGCTCACTG CTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCAC GGGGTGGGAAGTGTTCACTGTAAATGTGTGGTCACGGGGGTGGGAAGTGC TCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACTGCTAGTGTG TGGTCACGGGGGTGGGAAGTGCTCGCCGCTAGTGTGTGGTCACGGGGTGG GAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCCGC TAGTGTGTGGTCACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACG GGGGTGGGAAGTGCTCGCCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCT CACTGCTAGTGTGTGGTCACGGGGTGGGAAGTGTTCACTGTAAATGTGTG GTCACGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1347		chr8	TogoVar
BCOR_chrX_40046251_40102958	40048031	G G	GGTGGGTG others(986): Show GGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGTCTGACCAACAT GGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGG CACGCACCTGTAATCCCAGCTACTCAGGAGGCAGGAGAATCACTTGAACC TGAGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCTGTTGCACTCCAGCC TGGGAGACAAAGCGAGACTCCATCTCAAAAAAAAAAAAAAGTTTTCAGTT TTCTGTCCTTGGGGTAAATCCACAAGAGATGAAACAATGTATTCTGTTGT TGTTTTGTTGGTTTTTGTTTTTTTTTTTTCTGAGATGGAGTTTCACTCGT TGCCCAGGCTGTAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCCGC CTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGAT TACAGGCATGTGCCACCACGCCTGGCTAATTTTGAATTTTTAGTAGAGAC GGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTG ATCTGCCCACCTCGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCAC CGCGCCCGGCCTGTATTCTGTTTTAAAGTCGCTTGAAAACAGTTTTTCTG TGTGGTACCAACTAGATATATAGGTTTATTAATTGCATTTTGCTTTTTGA TTTCTAGGCATTACATTTGGTTTATAATTATGTCAATTCCAAAGTCAAAT CTATACTCTGAGAATACTCAAATAGAACTTCCATTTGTTTCCCTCATGCC TGTTCTTTTCTTTTCCCAAAGCTATTTTTTAAAGCCTTTATTATTTCATT TTTTAAACAAAGAAGATATGCATATATACTTTAAGTCAAACTGTGCACCT TCCTTCACCTTGTTTTTCAGTTAATGATTAATAATCAGTCAGTTGGCTAG GTGTGCTGGCTCATGCCTGTAATCCAGCACTTTGGGAGGCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0216 a0001c0002t0001g0216	1	165	0.0061	993	c.40 others(1004): Show c.4077_*4078insGTTGGCCTCCCAAAGTGCTGGATTACAGGCATGA GCCAGCACACCTAGCCAACTGACTGATTATTAATCATTAACTGAAAAACA AGGTGAAGGAAGGTGCACAGTTTGACTTAAAGTATATATGCATATCTTCT TTGTTTAAAAAATGAAATAATAAAGGCTTTAAAAAATAGCTTTGGGAAAA GAAAAGAACAGGCATGAGGGAAACAAATGGAAGTTCTATTTGAGTATTCT CAGAGTATAGATTTGACTTTGGAATTGACATAATTATAAACCAAATGTAA TGCCTAGAAATCAAAAAGCAAAATGCAATTAATAAACCTATATATCTAGT TGGTACCACACAGAAAAACTGTTTTCAAGCGACTTTAAAACAGAATACAG GCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGCCGAG GTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATG GAGAAACCCCGTCTCTACTAAAAATTCAAAATTAGCCAGGCGTGGTGGCA CATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCACTTG AACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTAC AGCCTGGGCAACGAGTGAAACTCCATCTCAGAAAAAAAAAAAACAAAAAC CAACAAAACAACAACAGAATACATTGTTTCATCTCTTGTGGATTTACCCC AAGGACAGAAAACTGAAAACTTTTTTTTTTTTTTGAGATGGAGTCTCGCT TTGTCTCCCAGGCTGGAGTGCAACAGCACAATCTTGGCTCACTGCAACCT CCGCCTCTCAGGTTCAAGTGATTCTCCTGCCTCCTGAGTAGCTGGGATTA CAGGTGCGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATG GGGTTTCACCATGTTGGTCAGACTGGTCTTGAACTCCTGACCTCAGGTGA TCCACCCAC	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		3219		chrX	TogoVar
BCOR_chrX_40046251_40102958	40048031	G G	GGTGGGTG others(986): Show GGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGTCTGACCAACAT GGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGG CACGCACCTGTAATCCCAGCTACTCAGGAGGCAGGAGAATCACTTGAACC TGAGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCTGTTGCACTCCAGCC TGGGAGACAAAGCGAGACTCCATCTCAAAAAAAAAAAAAGTTTTCAGTTT TCTGTCCTTGGGGTAAATCCACAAGAGATGAAACAATGTATTCTGTTGTT GTTTTGTTGGTTTTTGTTTTTTTTTTTTTCTGAGATGGAGTTTCACTCGT TGCCCAGGCTGTAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCCGC CTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGAT TACAGGCATGTGCCACCACGCCTGGCTAATTTTGAATTTTTAGTAGAGAC GGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTG ATCTGCCCACCTCGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCAC CGCGCCCGGCCTGTATTCTGTTTTAAAGTCGCTTGAAAACAGTTTTTCTG TGTGGTACCAACTAGATATATAGGTTTATTAATTGCATTTTGCTTTTTGA TTTCTAGGCATTACATTTGGTTTATAATTATGTCAATTCCAAAGTCAAAT CTATACTCTGAGAATACTCAAATAGAACTTCCATTTGTTTCCCTCATGCC TGTTCTTTTCTTTTCCCAAAGCTATTTTTTAAAGCCTTTATTATTTCATT TTTTAAACAAAGAAGATATGCATATATACTTTAAGTCAAACTGTGCACCT TCCTTCACCTTGTTTTTCAGTTAATGATTAATAATCAGTCAGTTGGCTAG GTGTGCTGGCTCATGCCTGTAATCCAGCACTTTGGGAGGCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG03098.hp1 HG03486.hp1 others(1): Show HG02723.hp1 HG03098.hp1 HG03486.hp1 HG04228.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0010 a0001c0001 a0003c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0003c0010t0002	a0001c0001t0001g0009 a0001c0001t0002g0048 a0001c0001t0010g0057 others(1): Show a0001c0001t0001g0009 a0001c0001t0002g0048 a0001c0001t0010g0057 a0003c0010t0002g0051	4	168	0.0238	993	c.40 others(1004): Show c.4077_*4078insGTTGGCCTCCCAAAGTGCTGGATTACAGGCATGA GCCAGCACACCTAGCCAACTGACTGATTATTAATCATTAACTGAAAAACA AGGTGAAGGAAGGTGCACAGTTTGACTTAAAGTATATATGCATATCTTCT TTGTTTAAAAAATGAAATAATAAAGGCTTTAAAAAATAGCTTTGGGAAAA GAAAAGAACAGGCATGAGGGAAACAAATGGAAGTTCTATTTGAGTATTCT CAGAGTATAGATTTGACTTTGGAATTGACATAATTATAAACCAAATGTAA TGCCTAGAAATCAAAAAGCAAAATGCAATTAATAAACCTATATATCTAGT TGGTACCACACAGAAAAACTGTTTTCAAGCGACTTTAAAACAGAATACAG GCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGCCGAG GTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATG GAGAAACCCCGTCTCTACTAAAAATTCAAAATTAGCCAGGCGTGGTGGCA CATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCACTTG AACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTAC AGCCTGGGCAACGAGTGAAACTCCATCTCAGAAAAAAAAAAAAACAAAAA CCAACAAAACAACAACAGAATACATTGTTTCATCTCTTGTGGATTTACCC CAAGGACAGAAAACTGAAAACTTTTTTTTTTTTTGAGATGGAGTCTCGCT TTGTCTCCCAGGCTGGAGTGCAACAGCACAATCTTGGCTCACTGCAACCT CCGCCTCTCAGGTTCAAGTGATTCTCCTGCCTCCTGAGTAGCTGGGATTA CAGGTGCGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATG GGGTTTCACCATGTTGGTCAGACTGGTCTTGAACTCCTGACCTCAGGTGA TCCACCCAC	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		3219		chrX	TogoVar
BCOR_chrX_40046251_40102958	40048031	G G	GGTGGGTG others(986): Show GGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGTCTGACCAACAT GGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGG CACGCACCTGTAATCCCAGCTACTCAGGAGGCAGGAGAATCACTTGAACC TGAGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCTGTTGCACTCCAGCC TGGGAGACAAAGCGAGACTCCATCTCAAAAAAAAAAAAAGTTTTCAGTTT TCTGTCCTTGGGGTAAATCCACAAGAGATGAAACAATGTATTCTGTTGTT GTTTTGTTGGTTTTTGTTTTTTTTTTTTTCTGAGATGGAGTTTCACTCGT TGCCCAGGCTGTAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCCGC CTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGAT TACAGGCATGTGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAGAC GGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTG ATCTGCCCACCTCGGCCTCCTAAAGTGCTGGGATTACAGGCATGAGCCAC CGCGCCCGGCCTGTATTCTGTTTTAAAGTCGCTTGAAAACAGTTTTTCTG TGTGGTACCAACTAGATATATAGGTTTATTAATTGCATTTTGCTTTTTGA TTTCTAGGCATTACATTTGGTTTATAATTATGTCAATTCCAAAGTCAAAT CTATACTCTGAGAATACTCAAATAGAACTTCCATTTGTTTCCCTCATGCC TGTTCTTTTCTTTTCCCAAAGCTATTTTTTAAAGCCTTTATTATTTCATT TTTTAAACAAAGAAGATATGCATATATACTTTAAGTCAAACTGTGCACCT TCCTTCACCTTGTTTTTCAGTTAATGATTAATAATCAGTCAGTTGGCTAG GTGTGCTGGCTCATGCCTGTAATCCAGCACTTTGGGAGGCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	165	0.0061	993	c.40 others(1004): Show c.4077_*4078insGTTGGCCTCCCAAAGTGCTGGATTACAGGCATGA GCCAGCACACCTAGCCAACTGACTGATTATTAATCATTAACTGAAAAACA AGGTGAAGGAAGGTGCACAGTTTGACTTAAAGTATATATGCATATCTTCT TTGTTTAAAAAATGAAATAATAAAGGCTTTAAAAAATAGCTTTGGGAAAA GAAAAGAACAGGCATGAGGGAAACAAATGGAAGTTCTATTTGAGTATTCT CAGAGTATAGATTTGACTTTGGAATTGACATAATTATAAACCAAATGTAA TGCCTAGAAATCAAAAAGCAAAATGCAATTAATAAACCTATATATCTAGT TGGTACCACACAGAAAAACTGTTTTCAAGCGACTTTAAAACAGAATACAG GCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGCCGAG GTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATG GAGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCA CATGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCACTTG AACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTAC AGCCTGGGCAACGAGTGAAACTCCATCTCAGAAAAAAAAAAAAACAAAAA CCAACAAAACAACAACAGAATACATTGTTTCATCTCTTGTGGATTTACCC CAAGGACAGAAAACTGAAAACTTTTTTTTTTTTTGAGATGGAGTCTCGCT TTGTCTCCCAGGCTGGAGTGCAACAGCACAATCTTGGCTCACTGCAACCT CCGCCTCTCAGGTTCAAGTGATTCTCCTGCCTCCTGAGTAGCTGGGATTA CAGGTGCGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATG GGGTTTCACCATGTTGGTCAGACTGGTCTTGAACTCCTGACCTCAGGTGA TCCACCCAC	BCOR	ENSG00000183337.18	transcript	ENST00000378444.9	protein_coding		3219		chrX	TogoVar
C2CD4C_chr19_400445_414147	404290	G G	GGACGGGG others(986): Show GGACGGGGCCCTGTCCTGAGGGGTCTGAGGGGGGGACGGGGCCCTGTCCC GAGGGGTGTGAGGGGGAGACGGGTCCTGCCCCGAGGGGTGTGAGGGGGGG ACGGGGTCCTGCCCCGAGGGGTCTGAGGGGGGGGACGGGGTCCTGCCCCG AGGGGTGTGGGGGGGGGGACGGGGCCCTGTCCTGAGGGGTGTGAGGGGGG GGGACGGGGCCCTGTCCTGAGGGGTGTGAGGGGGAGACGGGTCCTGCCCC GAGGGGTGTGAGGGGGGGGACGGGGTCCTGCCCCGAGGGGTGTGAGGGGG GGGGACGGGGCCCTGTCCTGAGGGGTCTGAGGGGGGGACGGGTCCTGCCC CGAGGGGTGTGAGGGGGGGACGGGGTCCTGCCCCGAGGGGTGTGAGGGGG GGGACGGGGTCCTGCCCTGAGGGGTGTGAGGGGGGGGACGGGGTCCTGCC CTGAGGGGTCTGAGGGGGGGACGGGTCCTGCCCCGAGGGGTGTGGGGGGG GGGACGGGGTCCTGTCCCGAGGGGTGTGGGGGGGGGACGGGGTCCTGCCC TGAGGGGTGTGGGGGGGAACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGA CGGGGTCCTGCCCTGAGGGGTGTGAGGGGGGAACGGGGTCCTGCCCTGAG GGGTGTGGAGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGAACG GGGTCCTGCCCTGAGGGGTGTGGGGGGAACGGGGTCCTGCCCTGAGGGGT GTGGGGGGGGACGGGGTCCTGCCCCGAGGGGTGTGAGGGGGGGGGACGGG GTCCTGCCCTGAGGGGTGTGGAGGGGGGATGGGGTCCTGCCCCGAGGGGT CTGAGGGGGGGACGGGTCCTGCCCCGAGGGGTGTGGAGGGGGGACGGGGT CCTGCCCTGAGGGGTGTGAGGGGGGGACGGGGTCCTGCCCTGAGGGGTGT GAGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0116 a0001c0001t0116	a0001c0001t0116g0095 a0001c0001t0116g0095	1	299	0.0033	993	c.28 others(1004): Show c.2805_*2806insTCCCCCCCCCCACACCCCTCAGGGCAGGACCCCG TCCCCCCCTCACACCCCTCAGGGCAGGACCCCGTCCCCCCCTCACACCCC TCAGGGCAGGACCCCGTCCCCCCTCCACACCCCTCGGGGCAGGACCCGTC CCCCCCTCAGACCCCTCGGGGCAGGACCCCATCCCCCCTCCACACCCCTC AGGGCAGGACCCCGTCCCCCCCCCTCACACCCCTCGGGGCAGGACCCCGT CCCCCCCCACACCCCTCAGGGCAGGACCCCGTTCCCCCCACACCCCTCAG GGCAGGACCCCGTTCCCCCCCACACCCCTCAGGGCAGGACCCCGTCCCCC CTCCACACCCCTCAGGGCAGGACCCCGTTCCCCCCTCACACCCCTCAGGG CAGGACCCCGTCCCCCCCACACCCCTCAGGGCAGGACCCCGTTCCCCCCC ACACCCCTCAGGGCAGGACCCCGTCCCCCCCCCACACCCCTCGGGACAGG ACCCCGTCCCCCCCCCCACACCCCTCGGGGCAGGACCCGTCCCCCCCTCA GACCCCTCAGGGCAGGACCCCGTCCCCCCCCTCACACCCCTCAGGGCAGG ACCCCGTCCCCCCCCTCACACCCCTCGGGGCAGGACCCCGTCCCCCCCTC ACACCCCTCGGGGCAGGACCCGTCCCCCCCTCAGACCCCTCAGGACAGGG CCCCGTCCCCCCCCCTCACACCCCTCGGGGCAGGACCCCGTCCCCCCCCT CACACCCCTCGGGGCAGGACCCGTCTCCCCCTCACACCCCTCAGGACAGG GCCCCGTCCCCCCCCCTCACACCCCTCAGGACAGGGCCCCGTCCCCCCCC CCACACCCCTCGGGGCAGGACCCCGTCCCCCCCCTCAGACCCCTCGGGGC AGGACCCCGTCCCCCCCTCACACCCCTCGGGGCAGGACCCGTCTCCCCCT CACACCCCTCGGGACAGGGCCCCGTCCCCCCCTCAGACCCCTCAGGACAG GGCCCCGTC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1154		chr19	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCTC others(986): Show TCTCTCTCCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCC CTCTCCCTCTCTCCCTCTCTCCTCTCTCCTCCCTCTCCCTCTCCCTCCCC CTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCC CCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCT CCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCT CCCCCTCTCTCCCTCTCCCTCTCCCCCCTCCCTCTCTCCTCCCTCTCTCC CTCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCC CCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCC CTCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCT CCCTCTCTACCTCTCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCTCGTC CTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCC CTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTCTCC CTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCTCTCCCCCTCTCTCCCT CTCTCCCTCTCCTCCTCTCCCTCTCTCCCCTCTTCCCCTCTCCCCCTCTC CCTCTTTCCCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACC CTCTTCCTCTCCCTCTCCCTCCCCCTCTCCCTTCTCTCCCTCTCCTCCTC TCCCTCTCTCCCTCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCC CCCCTCCCCCTCTCCTCCTCTCCCTCTCTCCCTGTCCCCCCTCCTCCTCT CCCTCTCTCCCTCTTCCCCATCTCCCCCTTCTCCTCTCCCCCTCTCCCCC TCCCTCTCTCCCTCTCTCCCCCTCCCCCTCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0137 a0002c0002t0001g0137	1	6	0.1667	993	c.380 others(1010): Show c.380-7768_380-7767insTCCCCCCCCTCTCTCCCTCTCCCTCACC TCCTCTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCTCTCTCCTCCCT CTCCCTCTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCT CCCCCATCCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCC CTCCCCCTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCC CTCACATCCTCTCTCTCCCCCTCTCTCCCTCTCCCTCTCCCCCCTCCCTC TCTCCTCCCTCTCTCCCTCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCC TCTCCCCTTCCTCTCCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCT CCTCTAATCCCTCTCCCTCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTT CTTCCTCTCCCCCTCTCCCTCTCTACCTCTCCCCTCTCCCTCTCCCCGTC TCCCTCTCTCCTCGTCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCT CCCTCTCCTCCTGTCCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCC CCCTCCCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCT CTCCCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCCTCTT CCCCTCTCCCCCTCTCCCTCTTTCCCTCTCCCCATCTCCCTCTCCCCCCC TTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCCCTCCCCCTCTCCCTTC TCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCTCTTC TCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCTCCTCTCCCTCTCTCCCTG TCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCTTCTCC TCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCCTCCCCCTCCCTC TCCCCCTCCCCTCTC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EEF1A2_chr20_63483014_63504083	63486870	C C	CCTGCATC others(986): Show CCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCACCTGCAT CCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCACCTGCATCCTCAGG GAACCTGCCCACCCTCCACCCAACCCTCCTCCGCATCCTCAGGGAACCTG CCCACCCTTCCCCCCGACCCTCCTCTGCATCCTCAGGGAACCTGCCCACC CTCCACCCGACCCTTCTCCGCATCCTCAGGGAACCTGCCCATCCTCCACC CTGACCTCACCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCGACCCT CCTCTTCATCCTCAGGGAACCTGCCCACCCTCCACCCGACCTCCTCTGCA TCCTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAG GGAGCCTGCCCACCCTCCACCCCGACCCTCCTCCGCATCCTCAGGGAAGC TGCCCAACCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCAT CCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCACCCTCCAC CCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCACCCTCCCCCCCGACC CTCCTCTGTATCCTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCTCC GCATCCTCAGGGAAGCTGCCCACCCTCCACCCTGACCCTCCTCTGCATCC TCAAGGAACCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGA GCCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAGCCTGCC CACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCTTC CACCCCACCCTCCTCCGCATCCTCAGGGAGCCTGCCCACCCTCCACCCAG ACCCTCCTCTGCATCCTCAGGGAAGCTGCCCAACCTCCACCCCACCCTCC TCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCCACCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0016	2	182	0.0110	993	c.14 others(1004): Show c.1427_*1428insAGGAGGGTGGGGTGGAGGATGGGCAGGTTCCCTG AGGATGCAGAGGAGGGTGGGGTGGAGGTTGGGCAGCTTCCCTGAGGATGC AGAGGAGGGTCTGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCGGAGGA GGGTGGGGTGGAAGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGG GTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGG GTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCA GGTTCCTTGAGGATGCAGAGGAGGGTCAGGGTGGAGGGTGGGCAGCTTCC CTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGA TACAGAGGAGGGTCGGGGGGGAGGGTGGGCAGGTTCCCTGAGGATGCGGA GGAGGGTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCGGAGGAGGGT GGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTGGGGTGG AGGTTGGGCAGCTTCCCTGAGGATGCGGAGGAGGGTCGGGGTGGAGGGTG GGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGT TCCCTGAGGATGCAGAGGAGGTCGGGTGGAGGGTGGGCAGGTTCCCTGAG GATGAAGAGGAGGGTCGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAG GTGAGGTCAGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCGGAGAAGGG TCGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTCGGGGG GAAGGGTGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTTGGGTGGAGGGT GGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGGGTGGAGGATGGGCAGG TTCCCTGAGGATGCAGGTGAGGTCAGGGTGGAGGATGGGCAGGTTCCCTG AGGATGCAG	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1143		chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63486870	C C	CCTGCATC others(986): Show CCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCACCTGCAT CCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCACCTGCATCCTCAGG GAACCTGCCCACCCTCCACCCAACCCTCCTCCGCATCCTCAGGGAACCTG CCCACCCTTCCCCCCGACCCTCCTCTGCATCCTCAGGGAACCTGCCCACC CTCCACCCGACCCTTCTCCGCATCCTCAGGGAACCTGCCCATCCTCCACC CTGACCTCACCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCGACCCT CCTCTTCATCCTCAGGGAACCTGCCCACCCTCCACCCGACCTCCTCTGCA TCCTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAG GGAGCCTGCCCACCCTCCACCCCGACCCTCCTCCGCATCCTCAGGGAAGC TGCCCAACCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCAT CCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCATCCTCCAC CCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCACCCTCCACCCCACCC TCCTCCGCATCCTCAGGGAACCTGCCCACCCTCCCCCCCGACCCTCCTCT GTATCCTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCTCCGCATCCT CAGGGAAGCTGCCCACCCTCCACCCTGACCCTCCTCTGCATCCTCAAGGA ACCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAGCCTGCC CACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCTTC CACCCCACCCTCCTCCGCATCCTCAGGGAGCCTGCCCACCCTCCACCCAG ACCCTCCTCTGCATCCTCAGGGAAGCTGCCCAACCTCCACCCCACCCTCC TCTGCATCCTCAGGGAACCTGCCCATCCTCCACCCCACCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 NA18944.hp2 NA18952.hp2 others(4): Show HG00438.hp2 NA18944.hp2 NA18952.hp2 NA18973.hp1 NA19000.hp2 NA19074.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0162 a0001c0002t0001g0026 a0001c0002t0001g0136 others(3): Show a0001c0001t0001g0162 a0001c0002t0001g0026 a0001c0002t0001g0136 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0186	7	187	0.0374	993	c.14 others(1004): Show c.1427_*1428insAGGAGGGTGGGGTGGAGGATGGGCAGGTTCCCTG AGGATGCAGAGGAGGGTGGGGTGGAGGTTGGGCAGCTTCCCTGAGGATGC AGAGGAGGGTCTGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCGGAGGA GGGTGGGGTGGAAGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTGGG GTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGG GTGGGCAGGTTCCTTGAGGATGCAGAGGAGGGTCAGGGTGGAGGGTGGGC AGCTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCC CTGAGGATACAGAGGAGGGTCGGGGGGGAGGGTGGGCAGGTTCCCTGAGG ATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCGGA GGAGGGTGGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCGGAGGAGGGT GGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTGGGGTGG AGGTTGGGCAGCTTCCCTGAGGATGCGGAGGAGGGTCGGGGTGGAGGGTG GGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGT TCCCTGAGGATGCAGAGGAGGTCGGGTGGAGGGTGGGCAGGTTCCCTGAG GATGAAGAGGAGGGTCGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAG GTGAGGTCAGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCGGAGAAGGG TCGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTCGGGGG GAAGGGTGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTTGGGTGGAGGGT GGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGGGTGGAGGATGGGCAGG TTCCCTGAGGATGCAGGTGAGGTCAGGGTGGAGGATGGGCAGGTTCCCTG AGGATGCAG	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1143		chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63486886	A A	ACCTGCCC others(986): Show ACCTGCCCATCCTCCACCCTGACCTCACCTGCATCCTCAGGGAACCTGCC CATCCTCCACCCTGACCTCACCTGCATCCTCAGGGAACCTGCCCACCCTC CACCCAACCCTCCTCCGCATCCTCAGGGAACCTGCCCACCCTTCCCCCCG ACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCGACCCTTC TCCGCATCCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCACCTGCAT CCTCAGGGAACCTGCCCACCCTCCACCCGACCCTCCTCTTCATCCTCAGG GAACCTGCCCACCCTCCACCCGACCCTCCTCTTCATCCTCAGGGAACCTG CCCACCCTCCACCCGACCTCCTCTGCATCCTCAGGGAACCTGCCCACCCT CCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCC ACCCTCCTCTGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCGACCCTC CTCCGCATCCTCAGGGAAGCTGCCCAACCTCCACCCCACCCTCCTCCGAA TCCTCAGGGAACCTGCCCACCCTCCACCCCGACCCTCCTCCGCATCCTCA GGGAAGCTGCCCAACCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACC TGCCCATCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCAT CCTCCACCCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCACCCTCCAC CCCACCCTCCTCCGCATCCTCAGGGAACCTGCCCACCCTCCCCCCCGACC CTCCTCTGTATCCTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCTCC GCATCCTCAGGGAAGCTGCCCACCCTCCACCCTGACCCTCCTCTGCATCC TCAAGGAACCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGA GCCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	340	0.0029	993	c.14 others(1004): Show c.1411_*1412insCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGG GTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCA GGTTCCTTGAGGATGCAGAGGAGGGTCAGGGTGGAGGGTGGGCAGCTTCC CTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGA TACAGAGGAGGGTCGGGGGGGAGGGTGGGCAGGTTCCCTGAGGATGCGGA GGAGGGTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCGGAGGAGGGT GGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTGGGGTGG AGGATGGGCAGGTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGTTGG GCAGCTTCCCTGAGGATGCGGAGGAGGGTCGGGGTGGAGGGTGGGCAGGT TCCCTGAGGATTCGGAGGAGGGTGGGGTGGAGGTTGGGCAGCTTCCCTGA GGATGCGGAGGAGGGTCGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGC AGAGGAGGGTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGAGGAG GGTGGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGTCGGGT GGAGGGTGGGCAGGTTCCCTGAGGATGAAGAGGAGGGTCGGGTGGAGGGT GGGCAGGTTCCCTGAGGATGAAGAGGAGGGTCGGGTGGAGGGTGGGCAGG TTCCCTGAGGATGCAGGTGAGGTCAGGGTGGAGGATGGGCAGGTTCCCTG AGGATGCGGAGAAGGGTCGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGC AGAGGAGGGTCGGGGGGAAGGGTGGGCAGGTTCCCTGAGGATGCGGAGGA GGGTTGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGG GTGGAGGATGGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGGGTGGAGG ATGGGCAGG	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1127		chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63486886	A A	ACCTGCCC others(986): Show ACCTGCCCATCCTCCACCCTGACCTCACCTGCATCCTCAGGGAACCTGCC CATCCTCCACCCTGACCTCACCTGCATCCTCAGGGAACCTGCCCACCCTC CACCCAACCCTCCTCCGCATCCTCAGGGAACCTGCCCACCCTTCCCCCCG ACCCTCCTCTGCATCCTCAGGGAACCTGCCCACCCTCCACCCGACCCTTC TCCGCATCCTCAGGGAACCTGCCCATCCTCCACCCTGACCTCACCTGCAT CCTCAGGGAACCTGCCCACCCTCCACCCGACCCTCCTCTTCATCCTCAGG GAACCTGCCCACCCTCCACCCGACCTCCTCTGCATCCTCAGGGAACCTGC CCACCTTCCACCCCACCCTCCTCCGCATCCTCAGGGAGCCTGCCCACCCT CCACCCCGACCCTCCTCCGCATCCTCAGGGAAGCTGCCCAACCTCCACCC CACCCTCCTCCGCATCCTCAGGGAACCTGCCCATCCTCCACCCCACCCTC CTCCGCATCCTCAGGGAACCTGCCCATCCTCCACCCCACCCTCCTCCGCA TCCTCAGGGAACCTGCCCACCCTCCACCCCACCCTCCTCCGCATCCTCAG GGAACCTGCCCACCCTCCCCCCCGACCCTCCTCTGTATCCTCAGGGAACC TGCCCACCCTCCACCCCACCCTCCTCCGCATCCTCAGGGAAGCTGCCCAC CCTCCACCCTGACCCTCCTCTGCATCCTCAAGGAACCTGCCCACCCTCCA CCCCACCCTCCTCTGCATCCTCAGGGAGCCTGCCCACCCTCCACCCCACC CTCCTCTGCATCCTCAGGGAACCTGCCCACCTTCCACCCCACCCTCCTCC GCATCCTCAGGGAAGCTGCCCACCCTCCACCCTGACCCTCCTCTGCATCC TCAAGGAACCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGA GCCTGCCCACCCTCCACCCCACCCTCCTCTGCATCCTCAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0016	1	340	0.0029	993	c.14 others(1004): Show c.1411_*1412insCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGG GTGGGCAGGCTCCCTGAGGATGCAGAGGAGGGTGGGGTGGAGGGTGGGCA GGTTCCTTGAGGATGCAGAGGAGGGTCAGGGTGGAGGGTGGGCAGCTTCC CTGAGGATGCGGAGGAGGGTGGGGTGGAAGGTGGGCAGGTTCCCTGAGGA TGCAGAGGAGGGTGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCAGAG GAGGGTGGGGTGGAGGGTGGGCAGGTTCCTTGAGGATGCAGAGGAGGGTC AGGGTGGAGGGTGGGCAGCTTCCCTGAGGATGCGGAGGAGGGTGGGGTGG AGGGTGGGCAGGTTCCCTGAGGATACAGAGGAGGGTCGGGGGGGAGGGTG GGCAGGTTCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGGTGGGCAGGT TCCCTGAGGATGCGGAGGAGGGTGGGGTGGAGGATGGGCAGGTTCCCTGA GGATGCGGAGGAGGGTGGGGTGGAGGATGGGCAGGTTCCCTGAGGATGCG GAGGAGGGTGGGGTGGAGGTTGGGCAGCTTCCCTGAGGATGCGGAGGAGG GTCGGGGTGGAGGGTGGGCAGGCTCCCTGAGGATGCGGAGGAGGGTGGGG TGGAAGGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGTCGGGTGGAGGGT GGGCAGGTTCCCTGAGGATGAAGAGGAGGGTCGGGTGGAGGGTGGGCAGG TTCCCTGAGGATGCAGGTGAGGTCAGGGTGGAGGATGGGCAGGTTCCCTG AGGATGCGGAGAAGGGTCGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGC AGAGGAGGGTCGGGGGGAAGGGTGGGCAGGTTCCCTGAGGATGCGGAGGA GGGTTGGGTGGAGGGTGGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGG GTGGAGGATGGGCAGGTTCCCTGAGGATGCAGGTGAGGTCAGGGTGGAGG ATGGGCAGG	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		1127		chr20	TogoVar
EXD3_chr9_137301896_137428162	137355710	A A	AGGAAGGA others(986): Show AGGAAGGAGGAAGGAGAAAGGAGGAAGGAGGAAGGGAGGATGGAGGAAGG AGGAAGGAGGAAGGAGAAAGGAGGAAGGAGGAAGGGAGGATGGAGGAAGG AGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGA GGAAGGAGGAAGGAGAAGAGGAAGGAGGAAGGAGAAGAGGAAGGAGGAAG GAGAAGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGA GGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGA GGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGACGGAGGAAGGAG GATGGAGGAAGGAGGACGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGG ACGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGGAGGAAGGAGG ATGGAGGAAGGAGGAAGGAGGACGGAGGAAGGAGGATGGAGGAAGGAGGA AGGAGGATGGAGGAAGGGAGGATGGAGGAAGGAGAAAGGAGGAAGGAGAA AGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGAAAGGAGGA AGGAGGAAGGAGGAAGGAGAAAGGAGGAAGGAGAAAGGAGGAAGGGAGGA TGGAGGAAGGAGAAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAA GGAGGAAGGAGGAAGGAGAAGAGGAAGGAGGAAGGAGGAAGGAGGATGGA GAAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAG GAAGGAGAAGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGA AGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGA AGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAG AGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	63	0.0159	993	c.757 others(1008): Show c.757+557_757+558insGCCTTCCTCCCTTTCTCCTTCCTCCTTCCT CCTTCCTCCTTCCTCTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCT TCCTCCATCCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCT TCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCT TCCTCTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCC TCCTTCCTCCTTTCTCCATCCTCCTTCCTCCTTCCTCCTTCCTCTTCTCC TTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCT TTCTCCTTCCTCCATCCTCCCTTCCTCCTTTCTCCTTCCTCCTTTCTCCT TCCTCCTTCCTCCTTCCTCCTTTCTCCTTCCTCCCTTTCTCCTTCCTCCT TCCTCCTTCCTCCTTTCTCCTTCCTCCTTTCTCCTTCCTCCATCCTCCCT TCCTCCATCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCGTCCTCCTT CCTCCTTCCTCCATCCTCCTTCCTCCCTTCCTCCTTCCTCCTTCCTCCAT CCTCCTTCCTCCGTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCGTC CTCCTTCCTCCATCCTCCTTCCTCCGTCCTCCTTCCTCCTTCCTCCATCC TCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCC TCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCC TCCTTCCTCTTCTCCTTCCTCCTTCCTCTTCTCCTTCCTCCTTCCTCTTC TCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCCT CCTTCCTCCTTCCTCCTTCCTCCATCCTCCCTTCCTCCTTCCTCCTTTCT CCTTCCTCCTTCCTCCTTCCTCCATCCTCCCTTCCTCCTTCCTCCTTTCT CCTTCCTCCTTCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
FMN2_chr1_240086883_240480187	240185033	C C	CCCCTTCT others(986): Show CCCCTTCTCTTTCTCCCTCCTATACCTTTCCCCTTCTCTTTCTCCCTCCT ATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCTCTTTCTC CCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTC TCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTC CCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCTCTTTCTCCCTCCTA TACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCC CTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTTCCCCTTCTC TTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATA CCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCC TCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTT TCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCC TTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATAC CTTCCCCTTCTCTTTCTCCCTCCTATACCTTTCCCTTCTCTTTCTCCCTC CTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTC TCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTC TCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTC CCCCTTCTCTTTCTCCCTCCTATACCTTTCCCCTTCTCTTTCTCCCTCCT ATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTC TCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0003 a0003	a0003c0087 a0003c0087	a0003c0087t0002 a0003c0087t0002	a0003c0087t0002g0097 a0003c0087t0002g0097	1	126	0.0079	993	c.193 others(1012): Show c.1931-3171_1931-3170insTTCTCTTTCTCCCTCCTATACCTTTC CCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTAT ACCTGCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCC CTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTC TTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTGCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATA CCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCT CCTATACCTTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCT TTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCC TTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATAC CTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTC CTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTC TCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCT TCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCT TTCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCT ATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTC CCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTC TTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTTC CCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTA TACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCT CCCTCCTATACCTTCCC	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(986): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT AATATATATTTTATATATATTATATATTTTATATATAATATATATTTTAT ATATATTATATATTTTATATATAATATATATTTTATATATAATATATATT TTATATATATTATATATTTTATATATAATATATATTTTATATATATTATA TATTTTATATATAATATATATATATTATATATAATATATATTATATATAA TATATATATTATATAAAATATATAATATATATCTTATATATATCATATAT TTTATATATATCATATATTTTATATATATCATATATTTTATATATAATAT ATATTATATATACATTATATAATATATATTATATTATATATAATATATTA TATAATATATATTATATATTATACGTAATATATAATGTATATTATATATA ATATACATTATATAATGTATATTATATATAATATACATTATATACAATGT ATATTATATATAATATACATTGTATATAATGTATATTACATATAATATAC ATTATATAATGTATATTACATATAATATACATTGTATATAATGTATATTA CATATAATATACATTGTATATAATGTATATTACATATAATATACATTATA TATAATGTGTATATTACATGTAATATACATTATATATAATGTATATTATA TGTAATATATACATTATATATAATGTGTATATTATATGTAATATATACAT TATATATAATGTATATATTATATGTAATATATACATTATATATAATGTAT ATATTATATGTAATATATACATTATATATAATGTATATATTACATGTAAT ATATACATTATATATAATGTATATTATATGTAATATATACATTATATATA ATGTATATTATATGTAATATATACATTATATATAATGTATATTATATGTA ATATATACATTATATAATGTATACATTGTATATAATGTATATTA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	132	0.0076	993	c.94- others(1006): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATAATATATATTTTATATATATTATATATTTTATA TATAATATATATTTTATATATATTATATATTTTATATATAATATATATTT TATATATAATATATATTTTATATATATTATATATTTTATATATAATATAT ATTTTATATATATTATATATTTTATATATAATATATATATATTATATATA ATATATATTATATATAATATATATATTATATAAAATATATAATATATATC TTATATATATCATATATTTTATATATATCATATATTTTATATATATCATA TATTTTATATATAATATATATTATATATACATTATATAATATATATTATA TTATATATAATATATTATATAATATATATTATATATTATACGTAATATAT AATGTATATTATATATAATATACATTATATAATGTATATTATATATAATA TACATTATATACAATGTATATTATATATAATATACATTGTATATAATGTA TATTACATATAATATACATTATATAATGTATATTACATATAATATACATT GTATATAATGTATATTACATATAATATACATTGTATATAATGTATATTAC ATATAATATACATTATATATAATGTGTATATTACATGTAATATACATTAT ATATAATGTATATTATATGTAATATATACATTATATATAATGTGTATATT ATATGTAATATATACATTATATATAATGTATATATTATATGTAATATATA CATTATATATAATGTATATATTATATGTAATATATACATTATATATAATG TATATATTACATGTAATATATACATTATATATAATGTATATTATATGTAA TATATACATTATATATAATGTATATTATATGTAATATATACATTATATAT AATGTATATTATATGTAATATATACATTATATAATGTATACATTGTATAT AATGTATATTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
HAUS2_chr15_42543838_42574994	42557411	T T	TATATTTT others(986): Show TATATTTTATATATAATATATATTTTATATATATTATATATTTTATATAT AATATATATTTTATATATATTATATATTTTATATATAATATATATTTTAT ATATATTATATATTTTATATATAATATATATTTTATATATATTATATATT TTATATATAATATATATTTTATATATAATATATATTTTATATATATTATA TATTTTATATATAATATATATTTTATATATATTATATATTTTATATATAA TATATATATATATTATATATAATATATATTATATATAATATATATATTAT ATAAAATATATAATATATATCTTATATATATCATATATTTTATATATATC ATATATTTTATATATATCATATATTTTATATATAATATATATTATATATA CATTATATAATATATATTATATTATATATAATATATTATATAATATATAT TATATATTATACGTAATATATAATGTATATTATATATAATATACATTATA TAATGTATATTATATATAATATACATTATATACAATGTATATTATATATA ATATACATTGTATATAATGTATATTACATATAATATACATTATATAATGT ATATTACATATAATATACATTGTATATAATGTATATTACATATAATATAC ATTGTATATAATGTATATTACATATAATATACATTATATATAATGTGTAT ATTACATGTAATATACATTATATATAATGTATATTATATGTAATATATAC ATTATATAATGTGTATATTATATGTAATATATACATTATATATAATGTAT ATATTATATGTAATATATACATTATATATAATGTATATATTACATGTAAT ATATACATTATATATAATGTATATTATATGTAATATATACATTATATATA ATGTATATTATATGTAATATATACATTATATATAATGTATATTATATGTA ATATATACATTATATAATGTATACATTGTATATAATGTATATTA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0109 a0001c0001t0012g0109	1	132	0.0076	993	c.94- others(1006): Show c.94-787_94-786insATATTTTATATATAATATATATTTTATATATA TTATATATTTTATATATAATATATATTTTATATATATTATATATTTTATA TATAATATATATTTTATATATATTATATATTTTATATATAATATATATTT TATATATATTATATATTTTATATATAATATATATTTTATATATAATATAT ATTTTATATATATTATATATTTTATATATAATATATATTTTATATATATT ATATATTTTATATATAATATATATATATATTATATATAATATATATTATA TATAATATATATATTATATAAAATATATAATATATATCTTATATATATCA TATATTTTATATATATCATATATTTTATATATATCATATATTTTATATAT AATATATATTATATATACATTATATAATATATATTATATTATATATAATA TATTATATAATATATATTATATATTATACGTAATATATAATGTATATTAT ATATAATATACATTATATAATGTATATTATATATAATATACATTATATAC AATGTATATTATATATAATATACATTGTATATAATGTATATTACATATAA TATACATTATATAATGTATATTACATATAATATACATTGTATATAATGTA TATTACATATAATATACATTGTATATAATGTATATTACATATAATATACA TTATATATAATGTGTATATTACATGTAATATACATTATATATAATGTATA TTATATGTAATATATACATTATATAATGTGTATATTATATGTAATATATA CATTATATATAATGTATATATTATATGTAATATATACATTATATATAATG TATATATTACATGTAATATATACATTATATATAATGTATATTATATGTAA TATATACATTATATATAATGTATATTATATGTAATATATACATTATATAT AATGTATATTATATGTAATATATACATTATATAATGTATACATTGTATAT AATGTATATTA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5			chr15	TogoVar
ICA1_chr7_8108184_8267167	8152796	T T	TCCACCAC others(986): Show TCCACCACCACCACCATCTCCTTCAACACCACTACCCCCACCACTACCAC CATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTACCACCA CCACCACCATCTCCTTCACCACCACTACCCCCAGCACTACCACCATCACC TCTTCCACCACTACCACCATCTCCTCCACCACCACTACCACCACCACCAC CATTATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCCT CCACCATCACCACCACCACCACAACCACCATCTCCTTCATCACCACTACC CCCACCACTACCACCATCACCATCACCTCCACCACCACCACCACCACCAC CACCATCTCCTTCAACACCACTACCCCCACCACTACCACCATCACCTCCA CCACCACCACCATCTCCTTCAACACCACTACCCCCACCACTACCACCATC ACCATCACCTCCACCACCACCACCATCTCCTTCATCACCACTACCCCCAC CACTATCACCATCACCATCACCTCCACCACCACCACCATCTCCTTCAACA CCACTACCCCCAGCACTACCACCATCACCTCTTCCACCACTACCACCATC TCCTCCACCACCACTACCACCACCACCACCATTATCTCCTTCATCACCAC TACCCCCACCACTACCACCATCACCTCCTCCACCATCACCACCACCACCA CAACCACCATCTCCTTCATCACCACTACCCCCACCACTATCACCATCACC TCCTCCACCATCACCACCACCACCACCACCATCTCCTTCAACACCACTAC CCCCACCACTACCACCATCACCTCCTCCGCCACCATCACCATCACCTCCA CCACCACCACCATTATCTCCTTCATCACCACTACCCCCACCACTACCACC ATCACCTCCTCCACCATCACCACCACCACCACAACCACCATCTCCTTCAT CACCACTACCCCCACCACTATCACCATCACCTCCTCCACCATCA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	149	0.0067	993	c.804 others(1010): Show c.804+4319_804+4320insTGATGGTGGAGGAGGTGATGGTGATAGT GGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGA TGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAG ATAATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGGCGGAGGAGGTGAT GGTGGTAGTGGTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGG TGGTGATGGTGGAGGAGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATG AAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGT GGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAATGGTGGTGGTGGTGG TAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTA GTGCTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGAT GGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTGG TGGTGGAGGTGATGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGTTGAAG GAGATGGTGGTGGTGGTGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGT GTTGAAGGAGATGGTGGTGGTGGTGGTGGTGGTGGTGGAGGTGATGGTGA TGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTG GTGGTGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGT GATGAAGGAGATAATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGG TGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGGTG AAGGAGATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGT GGTGGAAGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGTTGAAGGAGA TGGTGGTGGTGGTGG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(986): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGA GGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAG AGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGG GGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGG AGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGG AGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGG GGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGC AGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGG CAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAG GGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGA GGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGG AGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGG AGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAG GACGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAC GGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGG GAGGACGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGG GGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGG AGGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0131 a0001c0001t0007g0131	1	13	0.0769	993	c.978 others(1010): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGG CAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAG GAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAG AGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGA TGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCA GGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAG AGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGG GGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGC AGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGG CAGGGAGGACGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAG GGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGA GGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGG AGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGAAACGGGCAGGGAGG AGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCA GGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGACGGGCAGGGAGGA GGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAG GGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGGA GGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
ITGB1BP1_chr2_9398475_9428528	9400249	T T	TTCCCCTC others(986): Show TTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTT CCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCC CCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCC CTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCC TGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGC CCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCT CCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCCTTCCCCTCC TGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCC CCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTC CTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCTCCT GCCCCCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCC CTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCC CTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTG CCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCTTCCCC TCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCACCTTCCCTCCTGCCCCC TCCCCTCCTGCCCTCCTGCCCCCCTCCCCTTCTGCCCTCCTGCCCCCCTC CCCTCCTGTACCCCTCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCTGC CCCCTCCCCTCCTGCCCCCTGCCCCCCTCCCCTCCTGCCCCCTCCCTTCC TACCCCCTCCCCTCCTGCCCCCTCCCCTCCTCCCCTCATGCCCTCCTGCC CCCTCCCCTCCTGCCCCCCCTCCCCTCCTCCCCTCCTGCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	124	0.0081	993	c.65 others(1004): Show c.6584_*6585insGGGGGGCAGGAGGGGAGGAGGGGAGGGGGGGCAG GAGGGGAGGGGGCAGGAGGGCATGAGGGGAGGAGGGGAGGGGGCAGGAGG GGAGGGGGTAGGAAGGGAGGGGGCAGGAGGGGAGGGGGGCAGGGGGCAGG AGGGGAGGGGGCAGGAGGGGGGAGGGGTACAGGAGGGGAGGGGGGAGGGG TACAGGAGGGGAGGGGGGCAGGAGGGCAGAAGGGGAGGGGGGCAGGAGGG CAGGAGGGGAGGGGGCAGGAGGGAAGGTGGGCAGGAGGGGAGGGGGGCAG GAGGGCAGGAGGGGAAGGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAG GGGAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGAGGGC AGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAGGAGGGCAGGAGGGGAG GGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGGCAGGAGG GGAGGGGGGCAGGAGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGG AGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGA GGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGG GAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGA AGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGA GGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGG GGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCA GGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGG AGGGGAAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGG GCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGCAGGAGGGGAAGGGGGC AGGAGGGGA	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding		3225		chr2	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(986): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCGG GCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACAT ACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTAC ATACCCGGGCCACTTACTTACCTACTACATACCCGGGCCGCTTACTTACC TACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA CTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGC CGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATAC CCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACT ACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTA CCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCT TACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGG GCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACAT ACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTA CTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACT TACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCG CTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCC GGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTAC ATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19087.hp2 NA19070.hp2 NA19087.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0030 a0001c0004t0030	a0001c0004t0030g0195 a0001c0004t0030g0202 a0001c0004t0030g0195 a0001c0004t0030g0202	2	7	0.2857	993	c.368 others(1010): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTA AGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGG TAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGT AGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGG GTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCG GCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGTGGCCCGGGTATGTAGTAGGTAAGTAAGTGGCCCGGGTATGTAGTA AGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAG TAAGTAAGTAAGTGGCCCGGTATGTAGTAAGTACGTGGCCCGGGTATGTA GTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATG TAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTA TGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(986): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCGG GCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACAT ACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTAC ATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACC TACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA CTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGC CGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATAC CCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACT ACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTA CCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCT TACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGG GCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACAT ACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTA CTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACT TACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCG CTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCC GGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTAC ATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0059 a0002c0002t0010g0059	1	6	0.1667	993	c.368 others(1010): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTA AGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGG TAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGT AGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGG GTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCG GCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGTGGCCCGGGTATGTAGTA AGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAG TAAGTAAGTAAGTGGCCCGGTATGTAGTAAGTACGTGGCCCGGGTATGTA GTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATG TAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTA TGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
MAD1L1_chr7_1810795_2237945	1930522	T T	TGCCACGT others(986): Show TGCCACGTCCCCTCGCCCCGTCCCCCACTGCCACGTCCCCTCGCCCCGTC CCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCC CGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTC GCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCC CCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCAC GTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTG CCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCC ACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCACTGCCACG TCCCCTCATCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCCACTG CCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCC CACTGCCACGTCCCCTCATCCCGTCCCCACTGCCACGTCCCCTCGCCCCG TCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTGGC CCCATCCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCC CTCGCCCCGTCCCCACTGCCACGTCCCCTGGCCCCATCCCCCACTGCCAC GTCCCCTCATCCCGTCCCCACTGCCACGTCCCCTGGCCCCATCCCCCACT GCCACGTCCCCTCATCCCGTCCCCACTGCCACGTCCCCTGGCCCCATCCC CCACTGCCACGTCCCCTCATCCCGTCCCCACTGCCACGTCCCCTCGCCCC GTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACAACCCCTCA TCCCGTCCCCTACTGCCACATCCCACCACCACGTCCACACTGCCATGTCC CCTCGCCCCATCCCCCTGCCACGTCCACTTACCCCATACCCACC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01361.hp2 others(4): Show HG01070.hp2 HG01071.hp1 HG01361.hp2 HG01884.hp1 HG01975.hp1 HG02273.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0110 a0001c0001t0002g0113 a0001c0001t0002g0114 others(4): Show a0001c0001t0001g0110 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0122 a0001c0001t0002g0173 a0001c0001t0002g0178 a0001c0001t0002g0179	7	16	0.4375	993	c.180 others(1012): Show c.1807+6164_1807+6165insGGTGGGTATGGGGTAAGTGGACGTGG CAGGGGGATGGGGCGAGGGGACATGGCAGTGTGGACGTGGTGGTGGGATG TGGCAGTAGGGGACGGGATGAGGGGTTGTGGCAGTGGGGACGGGGCGAGG GGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGAT GAGGGGACGTGGCAGTGGGGGATGGGGCCAGGGGACGTGGCAGTGGGGAC GGGATGAGGGGACGTGGCAGTGGGGGATGGGGCCAGGGGACGTGGCAGTG GGGACGGGATGAGGGGACGTGGCAGTGGGGGATGGGGCCAGGGGACGTGG CAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGAC GTGGCAGTGGGGGATGGGGCCAGGGGACGTGGCAGTGGGGACGGGGCGAG GGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGA TGAGGGGACGTGGCAGTGGGGGACGGGGCGAGGGGACGTGGCAGTGGGGA CGGGGCGAGGGGACGTGGCAGTGGGGGACGGGGCGAGGGGACGTGGCAGT GGGGACGGGATGAGGGGACGTGGCAGTGGGGACGTGGCAGTGGGGACGGG GCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGA CGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTG GGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGC AGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACG TGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGG GACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCG AGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGGACG GGGCGAGGGGACGTGGC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAN2B2_chr4_6570189_6628362	6579045	C C	CCACCATC others(986): Show CCACCATCACCACCACCATCACCATCACCATCACCACCATCACCACCATC ACCACCACCATCACCATCACCATCACCACCACCACCACCATCACCACCAC CATCACCATCACCAGCACCACCACCACCATCACCATCACCACCACCACCC TCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACC ACCATCACCACCACCATCACCACCACCACCACCACCACCACCATCACCAC CACCACCCTCACCACCATCACCACCACCACCATCACCACCACCATCACCA TCACCACCACCATCACCACCACCACCACCATCACCACCACCACCACCACC ACCATCACCATCACCACCACCATCACCATCACCACCACCACCACCATCAC CATCACCAGCACCACCACCATCACCACCACCACCATCACCACCACCACCA CCACCACCATCACCACCATCACCACCACCACCATCACCACCACCATCACC ATCACCACCACCACCACCACCACCATCACCACCACCATCACCATCACCAG CACCACCACCACCATCACCATCACCACCACCACCCTCACCACCATCACCA CCACCACCATCACCACCACCATCACCATCACCACCACCATCACCACCACC ATCACCACCACCACCACCACCACCACCATCACCACCACCACCCTCACCAC CATCACCACCACCACCATCACCACCACCATCACCATCACCACCACCATCA CCACCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACC ACCACCATCACCATCACCACCACCACCACCATCACCATCACCAGCACCAC CACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCCTCA CCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACCACC ATCACCACCACCACCACCATCACCACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	343	0.0029	993	c.391 others(1008): Show c.391+576_391+577insTCACCACCATCACCACCATCACCACCACCA TCACCATCACCATCACCACCACCACCACCATCACCACCACCATCACCATC ACCAGCACCACCACCACCATCACCATCACCACCACCACCCTCACCACCAT CACCACCACCACCATCACCACCACCATCACCATCACCACCACCATCACCA CCACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCCTC ACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACCAC CATCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCA TCACCACCACCATCACCATCACCACCACCACCACCATCACCATCACCAGC ACCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCAT CACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACCA CCACCACCACCACCATCACCACCACCATCACCATCACCAGCACCACCACC ACCATCACCATCACCACCACCACCCTCACCACCATCACCACCACCACCAT CACCACCACCATCACCATCACCACCACCATCACCACCACCATCACCACCA CCACCACCACCACCACCATCACCACCACCACCCTCACCACCATCACCACC ACCACCATCACCACCACCATCACCATCACCACCACCATCACCACCACCAC CACCATCACCACCACCACCACCACCACCATCACCATCACCACCACCATCA CCATCACCACCACCACCACCATCACCATCACCAGCACCACCACCATCACC ACCACCACCACCACCACCACCATCACCACCACCACCCTCACCACCATCAC CACCACCACCATCACCACCACCATCACCATCACCACCACCATCACCACCA CCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACCACC ATCACCATCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCTCT others(986): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC TCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCTTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCCCCTCCCCTCC CCCTCCCCTCCTCTCCCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTC CCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTC CCCTCCCCTCCTCTCTCCTCCCCTCCCCCTCCCCTCCTCTCTCTCCTCCC CTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCC CTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCC CTCCCCTCCCCTCTCTCCTCCGCTCCGCTCCCCTCTCCTCCACTCCTCTC CCCTCCCTTCCCCTCTCCTCCCCTCCTCTCCCCTCCCTTCCCCTCTCCTC CCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGC TCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCC TCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCC TCTCCTCCCCTCCTCTCTCCTCCCCTCCGCTCCCCTCCCCTCTCCTCCGC TCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCC TCTCCTCTGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCC TCCCCTCCCCTCTCCTCCGCTCCCCTCCCCTCTCCTCCACTCCTCTCCCC TCCCCTCCTCTCTCCTCCACTCCTCTCCCCTCCTCTCCTCTCTCCTCCCC TCCCCTCTCCTCCCCTCCCCACCCCTCCCCTCCCCTCCTTTCTCCTCCCC TCCCCACGGCTCCCCTCCCCTCCTTTCTCCTCCCTTGCCGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	125	0.0080	993	c.-49 others(1004): Show c.-4998_-4997insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGGGGAGCGGAGGAGA GGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCAGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGGGAGGAGAGAGGA GGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGA GGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCAGAGGAGA GGGGAGGGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAGAGGAGGG GAGGGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGGGGAGGAGAGGG GAAGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGCGGAGCGGAGGAGAGAG GGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAG GGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAG GGGAGGGGAGGGGAGGAGAGAGAGGAGGGGAGGGGGAGGGGAGGAGAGAG GAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAG GAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGGGAGAG GAGGGGAGGGGGAGGGGAGGGGAGAGGAGGGGAGGGGAGGGGAGGAGAGA GGAGGGGAGGGGAAGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGACAGA GGAGGAGAGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGACAGAGGAGG AGAGAGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
NPIPB5_chr16_22505891_22541535	22537732	T T	TTAAAAAA others(986): Show TTAAAAAAGTCCTGCAGTATAAATGTCTTCTTTTGAGAAGTGTCTGTTCA TGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAAATT TGTTTCAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGACAT TTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCA GAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCAGTTAGA ATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGTGG AGAAATAGGAAAACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAAC CATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATA CCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGACTATAA ATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTAT TCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGAC TGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCAT AAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAA CCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATA TTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAA GGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGG GATAGCATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGGGTGCA GCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTG CACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAATTAAAAAAAA ATAAAAATAAATAAAAATGAAAAAAAAAAAAAAAAGTCCTGCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01981.hp2 HG01975.hp2 HG01981.hp2	a0013 a0014 a0013 a0014	a0013c0030 a0014c0031 a0013c0030 a0014c0031	a0013c0030t0007 a0014c0031t0008 a0013c0030t0007 a0014c0031t0008	a0013c0030t0007g0011 a0014c0031t0008g0013 a0013c0030t0007g0011 a0014c0031t0008g0013	2	46	0.0435	993	c.13 others(1004): Show c.1347_*1348insTAAAAAAGTCCTGCAGTATAAATGTCTTCTTTTG AGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTT TTTTTCTTGTAAATTTGTTTCAGTTCATTGTAGATTCTGGATATTAGCCC TTTGTCAGATGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCAT CATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCAT CTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTG CTGGAGAGGATGTGGAGAAATAGGAAAACTTTTACACTGTTGGTGGGACT GTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGAT CTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATA CCCAAATGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGT TTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGT CCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGA ATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACAT GGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAA ACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATC ACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTC GGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGAC ACGTTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACT AACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAA AAAAATTAAAAAAAAATAAAAATAAATAAAAATGAAAAAAAAAAAAAAAA GTCCTGCAG	NPIPB5	ENSG00000243716.12	transcript	ENST00000424340.7	protein_coding		1198		chr16	TogoVar
OPRPN_chr4_70392940_70415195	70413191	A A	ATGTATAT others(986): Show ATGTATATATATGTGTGTATATATACATATATGTATATGTATATGTGTAT ATATGCATATATGTATATGTATATGTGTATATATGCATATATGTATATGT ATATGTGTATATATGCATATATGTATATGTATATGTGTATATATACATAT ATATGTAGTGTGTATATATACATATATATGTATATGTATATGTGTGTATA TATACATATATATGTATATGTATATGTGTGTATATACATATATATGTATA TGTATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATA TATACATATATGTATATGCATGTGTGTATATATACATATATATGTATATG CATGTGTGTATATATACATATATATGTATATGCATATGTGTGTAAATATA CATATATATGTATATGCATATGTGTGTATATATACATATATATGTATATG CATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATA TACATATATATGTATATGCATGTGTGTATATATACATATATATGTATATG CATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATA CATATATATGTATATGCATATGTGTGTATATATACATATATATGTATATG CATATGTGTGTATATACATATATATGTATATGCATATGTGTGTATATATA CATATATATGTATATGCATATGTGTGTATATATACACATATACATATATA TGCATATATATGTATATATACATATACATATATATGCATATATGTGTGTA TATATACATATACATATATATGCATATATGTGTGTATATATACATATATA TGCATATATGTGTGTATATATACATATATATGCATATATGTGTGTATATA TACATATACATATATATGCATATATGTGTATATATACACATATATATGTG TGTGTATATATATGTGTGTGTATATATACACATATATATGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	135	0.0074	993	c.31 others(1004): Show c.3116_*3117insTGTATATATATGTGTGTATATATACATATATGTA TATGTATATGTGTATATATGCATATATGTATATGTATATGTGTATATATG CATATATGTATATGTATATGTGTATATATGCATATATGTATATGTATATG TGTATATATACATATATATGTAGTGTGTATATATACATATATATGTATAT GTATATGTGTGTATATATACATATATATGTATATGTATATGTGTGTATAT ACATATATATGTATATGTATATGTGTGTATATATACATATATATGTATAT GCATATGTGTGTATATATACATATATGTATATGCATGTGTGTATATATAC ATATATATGTATATGCATGTGTGTATATATACATATATATGTATATGCAT ATGTGTGTAAATATACATATATATGTATATGCATATGTGTGTATATATAC ATATATATGTATATGCATATGTGTGTATATATACATATATATGTATATGC ATATGTGTGTATATATACATATATATGTATATGCATGTGTGTATATATAC ATATATATGTATATGCATGTGTGTATATATACATATATATGTATATGCAT ATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATAC ATATATATGTATATGCATATGTGTGTATATACATATATATGTATATGCAT ATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATAC ACATATACATATATATGCATATATATGTATATATACATATACATATATAT GCATATATGTGTGTATATATACATATACATATATATGCATATATGTGTGT ATATATACATATATATGCATATATGTGTGTATATATACATATATATGCAT ATATGTGTGTATATATACATATACATATATATGCATATATGTGTATATAT ACACATATATATGTGTGTGTATATATATGTGTGTGTATATATACACATAT ATATGTGTG	OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding		2997		chr4	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(986): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATG GGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGG GAGACAAGGGGGAGAGAAGGGGAGGGGGAGACAAGGGGGAGAGAAGGGGA GGGGGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGG GGGAGAGGGGGAGAGAGGGGGAGGGGGAGAGAGGGGGAGAGAAAAGGAGA GGGGGAGAGGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAG GGGAGAGAAGGGGAGGGGGAGGAGGGGGAGAGGGGGAGAGGTGGAGGAGG GGGAGAGGGGGAGAGGTGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGA GGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGGGAGGGGGAGAGGGGGAGG AGGGGGGGAGGGGGAGAGGGGGAGAGGGGGAGGAGGGGGAGGGGGAGGAG GGGGAGGAGGGGGAGGGGGAGAGGGGGAGGAGGGGGAGGGGGAGGAGGGG GAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGG GGAGAGGGGGAAGTGGGAAGGGGCAAGAGAGAGGGCGAGAGAGAGGGCGG GTGAGAGAGGGCGAGTGAGAGAGAGAGGGCGAGTGAGAGAGAGAGGGCAG GTGAGAGAGAGGGCGAGAGAAAGAGAGGGTGGGCAAGAGAGAGAGGGCGA GGGCGAGAGAGAGAGAGGGCGAGAGAGAGAGGGCGGGCGAGAGAGAGGGC AGGCGAGAGAGAGGGCGGGTGAGAGAGAGGGTGGGCAAGAGAGAGAGAGA GGGCGGGCAAGAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGG GCGGGCAAGAGAGAGAGTGAGAGGGCGAGAGGGAGAGAGAGGGAGAGGGC GAGAGGGAGAGGGAGAGAAAGAGGGAGAGAAAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0145 a0002c0002t0001g0145	1	24	0.0417	993	c.371 others(1010): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCCTCTCAC TCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTC TCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCACCCTCTCTCTCACCC GCCCTCTCTCTCGCCTGCCCTCTCTCTCGCCCGCCCTCTCTCTCTCGCCC TCTCTCTCTCTCGCCCTCGCCCTCTCTCTCTTGCCCACCCTCTCTTTCTC TCGCCCTCTCTCTCACCTGCCCTCTCTCTCTCACTCGCCCTCTCTCTCTC ACTCGCCCTCTCTCACCCGCCCTCTCTCTCGCCCTCTCTCTTGCCCCTTC CCACTTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCC CCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCTCCC CCTCCCCCTCCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCTCCCCCT CTCCCCCTCCCCCCCTCCTCCCCCTCTCCCCCTCCCCCCCTCCTCCCCCT CTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCA CCTCTCCCCCTCTCCCCCTCCTCCACCTCTCCCCCTCTCCCCCTCCTCCC CCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTC TCTCCCCCTCTCCCCCTCTCCTTTTCTCTCCCCCTCTCTCCCCCTCCCCC TCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTC TCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTTGTCTCCCCCTCCCCTT CTCTCCCCCTTGTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCACTCTCTC CCTCCCCTTCTCTCCCCATCCCCTTCTCTCCCCATCCCCTTCTCTCCCCA TCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(986): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATG GGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGG GAGACAAGGGGGAGAGAAGGGGAGGGGGAGACAAGGGGGAGAGAAGGGGA GGGGGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGG GGGAGAGGGGGAGAGAGGGGGAGGGGGAGAGAGGGGGAGAGAAAAGGAGA GGGGGAGAGGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAG GGGAGAGAAGGGGAGGGGGAGGAGGGGGAGAGGGGGAGAGGTGGAGGAGG GGGAGAGGGGGAGAGGTGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGA GGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGGGAGGGGGAGAGGGGGAGG AGGGGGGGAGGGGGAGAGGGGGAGAGGGGGAGGAGGGGGAGGGGGAGGAG GGGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGGGGGAGGAGGGG GAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGG GGAGAGGGGGAAGTGGGAAGGGGCAAGAGAGAGGGCGAGAGAGAGGGCGG GTGAGAGAGGGCGAGTGAGAGAGAGAGGGCGAGTGAGAGAGAGAGGGCAG GTGAGAGAGAGGGCGAGAGAAAGAGAGGGTGGGCAAGAGAGAGAGGGCGA GGGCGAGAGAGAGAGAGGGCGAGAGAGAGAGGGCGGGCGAGAGAGAGGGC AGGCGAGAGAGAGGGCGGGTGAGAGAGAGGGTGGGCAAGAGAGAGAGAGA GGGCGGGCAAGAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGG GCGGGCAAGAGAGAGAGTGAGAGGGCGAGAGGGAGAGAGAGGGAGAGGGC GAGAGGGAGAGGGAGAGAAAGAGGGAGAGAAAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0058 a0002c0002t0001g0058	1	24	0.0417	993	c.371 others(1010): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCCTCTCAC TCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTC TCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCACCCTCTCTCTCACCC GCCCTCTCTCTCGCCTGCCCTCTCTCTCGCCCGCCCTCTCTCTCTCGCCC TCTCTCTCTCTCGCCCTCGCCCTCTCTCTCTTGCCCACCCTCTCTTTCTC TCGCCCTCTCTCTCACCTGCCCTCTCTCTCTCACTCGCCCTCTCTCTCTC ACTCGCCCTCTCTCACCCGCCCTCTCTCTCGCCCTCTCTCTTGCCCCTTC CCACTTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCC CCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCTCCC CCTCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCTCCCCCT CTCCCCCTCCCCCCCTCCTCCCCCTCTCCCCCTCCCCCCCTCCTCCCCCT CTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCA CCTCTCCCCCTCTCCCCCTCCTCCACCTCTCCCCCTCTCCCCCTCCTCCC CCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTC TCTCCCCCTCTCCCCCTCTCCTTTTCTCTCCCCCTCTCTCCCCCTCCCCC TCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTC TCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTTGTCTCCCCCTCCCCTT CTCTCCCCCTTGTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCACTCTCTC CCTCCCCTTCTCTCCCCATCCCCTTCTCTCCCCATCCCCTTCTCTCCCCA TCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(986): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATG GGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGG GAGACAAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGG GGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAGGGGGAGGGGG AGAGAGGGGGAGAGAAAAGGAGAGGGGGAGAGGGGGAGAGAAGGGGAGAG AAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGGG GGAGGAGGGGGAGAGGGGGAGAGGTGGAGGAGGGGGAGAGGGGGAGAGGT GGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGA GGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGGG AGGGGGAGAGGGGGAGGAGGGGGGGAGGGGGAGAGGGGGAGAGGGGGAGG AGGGGGAGGGGGAGGAGGGGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGG GGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGG GGAGAGGGGGAAGTGGGAAGGGGCAAGAGAGAGGGCGAGAGAGAGGGCGG GTGAGAGAGGGCGAGTGAGAGAGAGAGGGCGAGTGAGAGAGAGAGGGCAG GTGAGAGAGAGGGCGAGAGAAAGAGAGGGTGGGCAAGAGAGAGAGGGCGA GGGCGAGAGAGAGAGAGGGCGAGAGAGAGAGGGCGGGCGAGAGAGAGGGC AGGCGAGAGAGAGGGCGGGTGAGAGAGAGGGTGGGCAAGAGAGAGAGAGA GGGCGGGCAAGAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGG GCGGGCAAGAGAGAGAGTGAGAGGGCGAGAGGGAGAGAGAGGGAGAGGGC GAGAGGGAGAGGGAGAGAAAGAGGGAGAGAAAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0270 a0002c0002t0001g0270	1	24	0.0417	993	c.371 others(1010): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCCTCTCAC TCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTC TCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCACCCTCTCTCTCACCC GCCCTCTCTCTCGCCTGCCCTCTCTCTCGCCCGCCCTCTCTCTCTCGCCC TCTCTCTCTCTCGCCCTCGCCCTCTCTCTCTTGCCCACCCTCTCTTTCTC TCGCCCTCTCTCTCACCTGCCCTCTCTCTCTCACTCGCCCTCTCTCTCTC ACTCGCCCTCTCTCACCCGCCCTCTCTCTCGCCCTCTCTCTTGCCCCTTC CCACTTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCC CCCTCCTCCCCCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCCCC TCCTCCCCCTCCCCCTCCTCCCCCTCTCCCCCTCTCCCCCTCCCCCCCTC CTCCCCCTCTCCCCCTCCCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCT CTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCC CTCCTCCCCCTCCTCCACCTCTCCCCCTCTCCCCCTCCTCCACCTCTCCC CCTCTCCCCCTCCTCCCCCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCT CCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCCTCTCCCCCTCTCCTT TTCTCTCCCCCTCTCTCCCCCTCCCCCTCTCTCCCCCTCTCCCCCTCCCC TTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTT CTCTCCCCCTTGTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCACTCTCTC CCTCCCCTTCTCTCCCCATCCCCTTCTCTCCCCATCCCCTTCTCTCCCCA TCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PPP6R2_chr22_50338327_50450090	50397569	C C	CTGTCATC others(986): Show CTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGC AGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGG AGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGCCTTGTCAT CTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCC TGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGT TTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCAC CAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGG GGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGA GGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGT CATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGG CCTGTCCTCACCAGCCCTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCT GAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCC TCACCAGCCCTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGG GATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTT CTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTCACCAGC CCTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGG CAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGG AGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0002 a0011c0020t0002	a0011c0020t0002g0067 a0011c0020t0002g0067	1	242	0.0041	993	c.227 others(1010): Show c.227+3441_227+3442insCCTCTGAGCTTTTCTCTGAGGAGTGTGA CTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGA GTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGCCTGTCCTC ACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATG GGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTC TGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCT TGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGG GGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTG TGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCT GAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTC CTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGG ATGGGGGCAGGGGGCCTGTCCTCACCAGCCCTGTCATCCCTCTGAGCTTT TCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCA GCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGG CGGGGGGCCTGTCCTCACCAGCCCTGTCATCCCTCTGAGCTTTTCTCTGA GGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTC ATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGC CTGTCCTCACCAGCCCTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTG ACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGA GTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTC ACCAGCCTTGTCATC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
RAB11FIP3_chr16_420649_528011	492428	C C	CGGGAGAC others(986): Show CGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCC AGAGCCCTCCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACC CGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGTCCAGAGCCCT CCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGA GACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGG CCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCG AGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCC CGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCC CAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGTC CAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGAGC CCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGTCCAGGGCCCTCCCC GGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	247	0.0040	993	c.126 others(1012): Show c.1265+3444_1265+3445insTCCAGAGCCCTCCCGGGAGACCCGAG GCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCG GGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGTCCA GAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTT CCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGG AGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGAG CCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGA GGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGC CCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGA GGCCGTCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCC CGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGC CCAGAGCCCTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGTCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCC GGGGAGACCCGAGGCCG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RASA3_chr13_113972783_114137623	114010763	G G	GGAGGGGA others(986): Show GGAGGGGAAGGCGTGGGGAAGAGGGGAAGGCGTGGGGAGGAGGGGAAGGC ATGGGGAGGAGGGGGCCACATGGGGAGGAGCGGGCCGCGAGGGGAGGAGG GGGCCGCGTGGGGAGGAGGGGGCTGTGAGGAGAGGAGGGGGCCCCGTGGG GAGGAGGGGAAGGCTTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGGAGCC GCGTGGGGAGGAGGGGGCCACATGGGGAGGAGGCGCCGCGTGGGGAGGAG GGGGCCGTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCGTGG GGAGGAGGGGGGCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGCGCC GTGTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGGGGCCGCGTGGGGAGGA GGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGTG GGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGG CCGCGTGGGGAGGAGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGG AGGCGCCGTGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGTG GGGAGGAGGGGGCCGCGTGGGGAGGAGGCGCCGTGTGGGGAGGAGGGGGC CGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGG AGGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGCGCCGCGTG GGGAGGAGGCGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGC CGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGAGGGGAGG AGGGGGCCGCGTGGGGAGGAGGGGGCCCGCGAGGGGAGGAGGGGGCCGCG TGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGG GGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0029 a0002c0004t0004g0029	1	3	0.3333	993	c.159 others(1010): Show c.1590+407_1590+408insGCGGCCCCCTCCTCCCCACGCGGCCCCC TCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCACGC GGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGGCCCCCTCCT CCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCACGCGGCC CCCTCCTCCCCACGCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCA CGCGGCGCCTCCTCCCCACGCGGCGCCTCCTCCCCACGCGGCCCCCTCCT CCCCACGCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCACGCGGCC CCCTCCTCCCCACGCGGCCCCCTCCTCCCCACACGGCGCCTCCTCCCCAC GCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCACGCGGCCCCCTCC TCCCCACACGGCGCCTCCTCCCCACGCGGCCCCCTCCTCCCCACGCGGCC CCTCCTCCCCACGCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCAC GCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCACGCGGCCCCCTCC TCCCCACGCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGC CCCCTCCTCCCCACACGGCGCCTCCTCCCCACGCGGCCCCCTCCTCCCCA CGCGCCCCCCTCCTCCCCACGCCTTCCCCTCCTCCCCACGGGGCCCCCTC CTCTCCTCACGGCCCCCTCCTCCCCACGCGGCGCCTCCTCCCCATGTGGC CCCCTCCTCCCCACGCGGCTCCCTCCTCCCCTCGCGGCCCCCTCCTCCCC AAGCCTTCCCCTCCTCCCCACGGGGCCCCCTCCTCTCCTCACAGCCCCCT CCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCGCTCCTCCCCATGTG GCCCCCTCCTCCCCATGCCTTCCCCTCCTCCCCACGCCTTCCCCTCTTCC CCACGCCTTCCCCTC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	16/23			chr13	TogoVar
RPS21_chr20_62382103_62393520	62382278	G G	GTGATGGT others(986): Show GTGATGGTGATATTGATGATGTGATGATGATGGTGGTGGTGGTGGCGATG GTGATGATGGTATTGACGATGATGATGACGGTGGTGATGGTGGTGGTGAT GGTGATGGTGATGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGATGG TGGTGGTGATGGTGATGGTGACGATGGTGGTGATGGTGGTGGTGGTGGTG ATGATGGTGATGGTGGTGATGATGGTGATGCTGATGGTGGTGGTGATGAT GGTGATGGTGAGGATGGTGGTGATGGTGGTCATGATGGTGATGATGATGG TGGTGATGATGATGGTGATGGTGGTGGTGATGATGGTGATGGTAGTGATG ATGGAGGTGACGGTGATGGTGATAGTGATGGTGGTGATGATGGTGGTGGT GGTGGTGATGGTGATGGTGGTGATGGTGATGCTGGTGGTGATGGTGATGG TGGTGGTGATGGTGATGATGATGGTGATGGTGGTGATGATGGTGATGGTA GTGATGATGGTGGTGATGGTGATGATGGTGATGGTAGTGATGGTGGTGGT GGTGATGGTGGTGATGATGGTGATGGTGGTGATGATGGTGGTGACGGTGG TGGTGGTGACGGTGGTCATGGTGGTGGTGATGGTGGTGATGGTGATGGTG GTGATGATGGTGATGGTGGTGGTGGTGATGGTGATGATGATGGTGATGGT GGTGGTGGTGATGGTGATGGTGGTGATGACGGTGGTGATGGTGATGGTGG CAATGGTGATGATGTGATGATGGTGGTGGTGATGATAGTGATGGCGATGA TGTGATGGTGGTGGTGGTGGTGATGGCGATGGTGATGATGGTGGTGATGA TAGTGATGGCGATGATGTGATGATGGTGGTGGTGATGATAGTGATGGCGA TGATGTGATGGTGGTGGTGATAGTGATGGCGATGATGTGATGATGGTGGT GGTGGTGATGATAGTGATGGCGATGGTGATGATGGTGGTGGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	10	0.1000	993	c.-48 others(1004): Show c.-4877_-4876insTGATGGTGATATTGATGATGTGATGATGATGGTG GTGGTGGTGGCGATGGTGATGATGGTATTGACGATGATGATGACGGTGGT GATGGTGGTGGTGATGGTGATGGTGATGATGGTGGTGGTGGTGATGGTGA TGGTGGTGATGATGGTGGTGGTGATGGTGATGGTGACGATGGTGGTGATG GTGGTGGTGGTGGTGATGATGGTGATGGTGGTGATGATGGTGATGCTGAT GGTGGTGGTGATGATGGTGATGGTGAGGATGGTGGTGATGGTGGTCATGA TGGTGATGATGATGGTGGTGATGATGATGGTGATGGTGGTGGTGATGATG GTGATGGTAGTGATGATGGAGGTGACGGTGATGGTGATAGTGATGGTGGT GATGATGGTGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGATGCTGG TGGTGATGGTGATGGTGGTGGTGATGGTGATGATGATGGTGATGGTGGTG ATGATGGTGATGGTAGTGATGATGGTGGTGATGGTGATGATGGTGATGGT AGTGATGGTGGTGGTGGTGATGGTGGTGATGATGGTGATGGTGGTGATGA TGGTGGTGACGGTGGTGGTGGTGACGGTGGTCATGGTGGTGGTGATGGTG GTGATGGTGATGGTGGTGATGATGGTGATGGTGGTGGTGGTGATGGTGAT GATGATGGTGATGGTGGTGGTGGTGATGGTGATGGTGGTGATGACGGTGG TGATGGTGATGGTGGCAATGGTGATGATGTGATGATGGTGGTGGTGATGA TAGTGATGGCGATGATGTGATGGTGGTGGTGGTGGTGATGGCGATGGTGA TGATGGTGGTGATGATAGTGATGGCGATGATGTGATGATGGTGGTGGTGA TGATAGTGATGGCGATGATGTGATGGTGGTGGTGATAGTGATGGCGATGA TGTGATGATGGTGGTGGTGGTGATGATAGTGATGGCGATGGTGATGATGG TGGTGGTGA	RPS21	ENSG00000171858.18	transcript	ENST00000343986.9	protein_coding		4824		chr20	TogoVar
SAMD11_chr1_918923_949574	934148	A A	AGGGGCGG others(986): Show AGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTG GGCGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGCGGCTGCGTTACAG GTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCG TTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCAGGGGCGGCT GCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGCG GCTGCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGG GAGGCGGCTGTGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGG GCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTAC AGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCAGGGGCGGCTGCGT TACAGGTGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCGGGGGAGGCGG CTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGTGCAGGGG AGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGG CGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACA GGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGTGCAGGGGAGGCGGCTCC GTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGTC GGCTGCGTTACAGGTGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCGGG GGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTG TGCAGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTA CAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCTGCT CCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0014 a0001c0046t0014	a0001c0046t0014g0029 a0001c0046t0014g0029	1	298	0.0034	993	c.843 others(1010): Show c.843-1620_843-1619insCGGCTGCGTTACAGGTGGGCGGGGGGGG CGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCAG GGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGG CGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACA GGTGGGCAGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTT ACAGGTGGGCAGGGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTCC GTTACAGGTGGGCAGGGGAGGCGGCTGTGTTACAGGTGGGCGGGGGAGGC GGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGG GGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTG GGCAGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGTCGGCTGCGTTACAG GTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCG TTACAGGTGTGCAGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCG GCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGG GAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGT GCAGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTAC AGGTGGGCGGGGGAGTCGGCTGCGTTACAGGTGGGCGGGGGAGTCGGCTG CGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGG CGGCTGCGTTACAGGTGTGCAGGGGAGGCGGCTCCGTTACAGGTGGGCGG GGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGT GGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTT ACAGGTGGGCGGGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar

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