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
SKI_chr1_2223319_2315213	2281390	C C	CGAGAAGA others(489): Show CGAGAAGACAGGCGGTGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAG ACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCG GCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAAGACAGGCGGCGGCGG AGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTT CAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGCGATCTTCAGAGAG AGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGC CCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGAGAA GACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAGGACAGGC GGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCG GAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0068 a0001c0001t0069g0068	1	303	0.0033	496	c.970 others(515): Show c.970-21568_970-21567insCGATCTTCAGAGAGAGGACGCCCGAG AAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAAGACAG GCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAAGACAGGCGGCGG CGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGAT CTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGCGATCTTCAGA GAGAGGACGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGA CGCCCGAGAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGAAGCCCGA GAAGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCCGAGAGGACA GGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTG GCGGAGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGT GAGAAGACAGGCGGTGGCGG	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(489): Show CGGGGGGCGGCAGGGGGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGGG GGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGGGGGGGC GGGAGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGG AGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGAGGG GAGGAGGCGGGGGGGCGGGAGGGGGCCGGAGGGGGAGGAGGCGGGGGGGG CGGGGGGGCGGGAGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGG GGAGGCGGGGGGGCGGGAGGGGGCGGGAGGGGAAGGAGGCGGGGGGGGCG GGGGGGAGGGAGGGGAAGGAGGCGGGGGGGGCGGGAGGGGGAGGACGCGG GGGGGGCGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGG GAGGCGGGAGGGGAAGGAGGCGGGGGGGGGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0084 a0001c0001t0023g0084	1	25	0.0400	496	c.914 others(515): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCCC GCCTCCTTCCCCTCCCGCCTCCCCCCCTCCCGCCCCCCCGCCTCCTCCCC CTCCCGCCCCCCCCGCCCCCCCCGCGTCCTCCCCCTCCCGCCCCCCCCGC CTCCTTCCCCTCCCTCCCCCCCGCCCCCCCCGCCTCCTTCCCCTCCCGCC CCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCT CCCGCCCCTCCCGCCCCCCCGCCCCCCCCGCCTCCTCCCCCTCCGGCCCC CTCCCGCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTCCC GCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGC CCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCC CGCCTCCTCCCCCTCCCGCCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCG CCTCCCCCCTGCCGCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(489): Show CGGGGGGCGGCAGGGGGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGGG GGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGGGGGGGC GGGAGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGG AGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGAGGG GAGGAGGCGGGGGGGCGGGAGGGGGCCGGAGGGGGAGGAGGCGGGGGGGG CGGGGGGGCGGGAGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGG GGAGGCGGGGGGGCGGGAGGGGGCGGGAGGGGAAGGAGGCGGGGGGGGCG GGGGGGAGGGAGGGGAAGGAGGCGGGGGGGGCGGGAGGGGGAGGACGCGG GGGGGGGCGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGG GAGGCGGGAGGGGAAGGAGGCGGGGGGGGGCGGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0188 a0001c0001t0031g0188	1	25	0.0400	496	c.914 others(515): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCCGCCCCCCCCC GCCTCCTTCCCCTCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCC TCCCGCCCCCCCCGCCCCCCCCCGCGTCCTCCCCCTCCCGCCCCCCCCGC CTCCTTCCCCTCCCTCCCCCCCGCCCCCCCCGCCTCCTTCCCCTCCCGCC CCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCT CCCGCCCCTCCCGCCCCCCCGCCCCCCCCGCCTCCTCCCCCTCCGGCCCC CTCCCGCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTCCC GCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGC CCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCC CGCCTCCTCCCCCTCCCGCCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCG CCTCCCCCCTGCCGCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(489): Show CGGGGGGCGGCAGGGGGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGGG GGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGGGGGGGC GGGAGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGG AGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGAGGG GAGGAGGCGGGGGGGCGGGAGGGGGCCGGAGGGGGAGGAGGCGGGGGGGG CGGGGGGGCGGGAGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGG GGAGGCGGGGGGGCGGGAGGGGGGCGGGAGGGGAAGGAGGCGGGGGGGGC GGGGGGGAGGGAGGGGAAGGAGGCGGGGGGGGCGGGAGGGGGAGGACGCG GGGGGGGCGGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGG GGAGGCGGGAGGGGAAGGAGGCGGGGGGGGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	25	0.0400	496	c.914 others(515): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCCG CCTCCTTCCCCTCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCT CCCGCCCCCCCCCGCCCCCCCCGCGTCCTCCCCCTCCCGCCCCCCCCGCC TCCTTCCCCTCCCTCCCCCCCGCCCCCCCCGCCTCCTTCCCCTCCCGCCC CCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCT CCCGCCCCTCCCGCCCCCCCGCCCCCCCCGCCTCCTCCCCCTCCGGCCCC CTCCCGCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTCCC GCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGC CCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCC CGCCTCCTCCCCCTCCCGCCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCG CCTCCCCCCTGCCGCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(489): Show CGGGGGGCGGCAGGGGGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGGG GGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGGGGGGGC GGGAGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGG AGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGAGGG GAGGAGGCGGGGGGGCGGGAGGGGGCCGGAGGGGGAGGAGGCGGGGGGGG CGGGGGGGCGGGAGGGGCGGGAGGGGGAGGAGGCGGGGGGGGCGGGAGGG GGTAGGCGGGGGGGCGGGAGGGGGCGGGAGGGGAAGGAGGCGGGGGGGGC GGGGGGGAGGGAGGGGAAGGAGGCGGGGGGGGCGGGAGGGGGAGGACGCG GGGGGGGCGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGG GAGGCGGGAGGGGAAGGAGGCGGGGGGGGGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	25	0.0400	496	c.914 others(515): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCCC GCCTCCTTCCCCTCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCC TCCCGCCCCCCCCGCCCCCCCCGCGTCCTCCCCCTCCCGCCCCCCCCGCC TCCTTCCCCTCCCTCCCCCCCGCCCCCCCCGCCTCCTTCCCCTCCCGCCC CCTCCCGCCCCCCCGCCTACCCCCTCCCGCCCCCCCCGCCTCCTCCCCCT CCCGCCCCTCCCGCCCCCCCGCCCCCCCCGCCTCCTCCCCCTCCGGCCCC CTCCCGCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTCCC GCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGC CCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCC CGCCTCCTCCCCCTCCCGCCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCG CCTCCCCCCTGCCGCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(489): Show CGGGGGGCGGCAGGGGGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGGG GGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGGGGGGGC GGGAGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGG AGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGAGGG GAGGAGGCGGGGGGGCGGGAGGGGGCCGGAGGGGGAGGAGGCGGGGGGGG GCGGGGGGGCGGGAGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGG GGGAGGCGGGGGGGCGGGAGGGGGCGGGAGGGGAAGGAGGCGGGGGGGGC GGGGGGGAGGGAGGGGAAGGAGGCGGGGGGGGCGGGAGGGGGAGGACGCG GGGGGGGCGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGG GAGGCGGGAGGGGAAGGAGGCGGGGGGGGGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0054 a0001c0001t0015g0054	1	25	0.0400	496	c.914 others(515): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCCC GCCTCCTTCCCCTCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCC TCCCGCCCCCCCCGCCCCCCCCGCGTCCTCCCCCTCCCGCCCCCCCCGCC TCCTTCCCCTCCCTCCCCCCCGCCCCCCCCGCCTCCTTCCCCTCCCGCCC CCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTC CCGCCCCTCCCGCCCCCCCGCCCCCCCCCGCCTCCTCCCCCTCCGGCCCC CTCCCGCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTCCC GCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGC CCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCC CGCCTCCTCCCCCTCCCGCCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCG CCTCCCCCCTGCCGCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(489): Show CGGGGGGCGGCAGGGGGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGGG GGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGGGGGGGC GGGAGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGG AGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGGAGGCGGGGGGGCGGGAGG GGAGGAGGCGGGGGGGCGGGAGGGGGCCGGAGGGGGAGGAGGCGGGGGGG GCGGGGGGGCGGGAGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGG GGTAGGCGGGGGGGCGGGAGGGGGCGGGAGGGGAAGGAGGCGGGGGGGGC GGGGGGGAGGGAGGGGAAGGAGGCGGGGGGGGCGGGAGGGGGAGGACGCG GGGGGGGGCGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGG GGAGGCGGGAGGGGAAGGAGGCGGGGGGGGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0172 a0001c0003t0012g0172	1	25	0.0400	496	c.914 others(515): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCCG CCTCCTTCCCCTCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCT CCCGCCCCCCCCGCCCCCCCCCGCGTCCTCCCCCTCCCGCCCCCCCCGCC TCCTTCCCCTCCCTCCCCCCCGCCCCCCCCGCCTCCTTCCCCTCCCGCCC CCTCCCGCCCCCCCGCCTACCCCCTCCCGCCCCCCCGCCTCCTCCCCCTC CCGCCCCTCCCGCCCCCCCGCCCCCCCCGCCTCCTCCCCCTCCGGCCCCC TCCCGCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCCTCCC GCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGC CCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCC CGCCTCCTCCCCCTCCCGCCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCG CCTCCCCCCTGCCGCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGC others(489): Show CGGGGGGCGGCAGGGGGGAGGCGGGGGGGCGGGAGGGGAGGAGGCGGGGG GGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGGGGGGGC GGGAGGGGAGGAGGCGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGGCGG GAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGAGG GGAGGAGGCGGGGGGGCGGGAGGGGGCCGGAGGGGGAGGAGGCGGGGGGG GCGGGGGGGCGGGAGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGG GGTAGGCGGGGGGGCGGGAGGGGGCGGGAGGGGAAGGAGGCGGGGGGGGC GGGGGGGAGGGAGGGGAAGGAGGCGGGGGGGGGCGGGAGGGGGAGGACGC GGGGGGGGCGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGG GGAGGCGGGAGGGGAAGGAGGCGGGGGGGGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0147 a0001c0002t0001g0147	1	25	0.0400	496	c.914 others(515): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCCG CCTCCTTCCCCTCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCT CCCGCCCCCCCCGCCCCCCCCGCGTCCTCCCCCTCCCGCCCCCCCCCGCC TCCTTCCCCTCCCTCCCCCCCGCCCCCCCCGCCTCCTTCCCCTCCCGCCC CCTCCCGCCCCCCCGCCTACCCCCTCCCGCCCCCCCGCCTCCTCCCCCTC CCGCCCCTCCCGCCCCCCCGCCCCCCCCGCCTCCTCCCCCTCCGGCCCCC TCCCGCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCG CCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCCGCCTCCTCCCCCTCCCGC CCCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCC CGCCTCCTCCCCCTCCCGCCCCCCCCGCCTCCTCCCCTCCCGCCCCCCCG CCTCCCCCCTGCCGCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC45A4_chr8_141202174_141313288	141203230	A A	AAAGAGAG others(489): Show AAAGAGAGGGAGAGGGAGACCGTGGAGAGAGGGAGAGGGAGAGGGAGAGG GAGACCGTGGAGAGAGGGAGAGGGAGAGGGAGACCGTGGAGAGAGAGAGA GGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGA GACCGTGGAGAGAGAGAGAGAGAGGGAGAGGGAGAGAGGGAGAGAGGGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGACCGTGGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGACGAGACCGTGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGGGAGAGAGGGAGAGAGAGAGAGAGGGAGAGAGAGAC CGTGGAGAGAGGGAGAGGGAGACCGTGGAGAGAGAGAGAGAGGGAGAGAG GGAGAGAGAGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGAG AGAGAGGGAGAGAGAGGACCGTGGAGAGAGGGAGAGGGGAGACCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0090 a0002c0001t0001g0090	1	183	0.0055	496	c.83 others(507): Show c.8341_*8342insCACGGTCTCCCCTCTCCCTCTCTCCACGGTCCTC TCTCTCCCTCTCTCTCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTC TCTCTCTCTCTCCCTCTCTCCCTCTCTCTCTCTCTCCACGGTCTCCCTCT CCCTCTCTCCACGGTCTCTCTCTCCCTCTCTCTCTCTCTCCCTCTCTCCC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACGGTCTCGTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCCACGGTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCCCTCTCTCCCTCTCTCCCTCTCCCTCTCTCTCTC TCTCTCCACGGTCTCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCCCTCTCTCTCTCTCCACGGTCTCCCTCTCCCTCTCCCTC TCTCCACGGTCTCCCTCTCCCTCTCCCTCTCCCTCTCTCCACGGTCTCCC TCTCCCTCTCTT	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3943		chr8	TogoVar
SLC6A12_chr12_185081_219157	197094	C C	CATCTACC others(489): Show CATCTACCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCTA CCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC TATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCA TCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTACC CATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCA TCCATCTATCCATCCATCCATCCATCCATCCATCTATCCATCTATCCATC CATCTATCCATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCA TCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0355 a0002c0005t0002g0355	1	418	0.0024	496	c.107 others(513): Show c.1076-213_1076-212insAGATGGATGGATGGATGGATGGATGGAT GGATGGATAGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGG ATGGATGGATGGATAGATGGATGGATAGATGGATAGATGGATGGATGGAT GGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGATAGATGG ATGGATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGG ATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGAT GGATGGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATAGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGGTAGATGGATGGATGGATAGATGGATGGATGG ATGGATGGATGGGTAGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SMIM36_chr17_55444856_55516452	55501321	T T	TCTATAAT others(489): Show TCTATAATATATATTATGTTATATATTATATTCTATAATATATAATATAT TATATATTATATTCTATAATATATAATATATTATATATTATAGAATATAA TATATAATATATTATATATTATAGAATATAATATATAATATATTATATAT TATAGAATATAATATATAATATATTATATATTATAGAATATAATATATAA TATATTATATATTATAGAATATAATATATAATATATTATATATTATAGAA TATAATATATAATATATTATATATTATAGAATATAATATATAATATATTA TATATTATAGAATATAATATATAATATATTATATATTATAGAATATAATA TATAATATATTATATATTATAGAATATAATATATAATATATTATATATTA TAGAATATAATATATAATATATTATATATTATAGAATATAATATATAATA TATTATATATTATAGAATATAATATATAATATATTATATATTATAGA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0257	1	286	0.0035	496	c.17 others(515): Show c.174+9557_*174+9558insTCTATAATATATAATATATTATATAT TATATTCTATAATATATAATATATTATATATTATATTCTATAATATATAA TATATTATATATTATATTCTATAATATATAATATATTATATATTATATTC TATAATATATAATATATTATATATTATATTCTATAATATATAATATATTA TATATTATATTCTATAATATATAATATATTATATATTATATTCTATAATA TATAATATATTATATATTATATTCTATAATATATAATATATTATATATTA TATTCTATAATATATAATATATTATATATTATATTCTATAATATATAATA TATTATATATTATATTCTATAATATATAATATATTATATATTATATTCTA TAATATATAATATATTATATATTATATTCTATAATATATAATATATTATA TATTATAGAATATAATATATAATATATTATATATTATAGAATATAATATA TAACATAATATATATTATAG	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501321	T T	TCTATAAT others(489): Show TCTATAATATATATTATGTTATATATTATATTCTATAATATATAATATAT TATATATTATATTCTATAATATATAATATATTATATATTATATTCTATAA TATATAATATATTATATATTATAGAATATAATATATAATATATTATATAT TATAGAATATAATATATAATATATTATATATTATAGAATATAATATATAA TATATTATATATTATAGAATATAATATATAATATATTATATATTATAGAA TATAATATATAATATATTATATATTATAGAATATAATATATAATATATTA TATATTATAGAATATAATATATAATATATTATATATTATAGAATATAATA TATAATATATTATATATTATAGAATATAATATATAATATATTATATATTA TAGAATATAATATATAATATATTATATATTATAGAATATAATATATAATA TATTATATATTATAGAATATAATATATAATATATTATATATTATAGA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0259	1	286	0.0035	496	c.17 others(515): Show c.174+9557_*174+9558insTCTATAATATATAATATATTATATAT TATATTCTATAATATATAATATATTATATATTATATTCTATAATATATAA TATATTATATATTATATTCTATAATATATAATATATTATATATTATATTC TATAATATATAATATATTATATATTATATTCTATAATATATAATATATTA TATATTATATTCTATAATATATAATATATTATATATTATATTCTATAATA TATAATATATTATATATTATATTCTATAATATATAATATATTATATATTA TATTCTATAATATATAATATATTATATATTATATTCTATAATATATAATA TATTATATATTATATTCTATAATATATAATATATTATATATTATATTCTA TAATATATAATATATTATATATTATAGAATATAATATATAATATATTATA TATTATAGAATATAATATATAATATATTATATATTATAGAATATAATATA TAACATAATATATATTATAG	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501321	T T	TCTATAAT others(489): Show TCTATAATATATATTATGTTATATATTATATTCTATAATATATAATATAT TATATATTATATTCTATAATATATAATATATTATATATTATATTCTATAA TATATAATATATTATATATTATATTCTATAATATATAATATATTATATAT TATAGAATATAATATATAATATATTATATATTATAGAATATAATATATAA TATATTATATATTATAGAATATAATATATAATATATTATATATTATAGAA TATAATATATAATATATTATATATTATAGAATATAATATATAATATATTA TATATTATAGAATATAATATATAATATATTATATATTATAGAATATAATA TATAATATATTATATATTATAGAATATAATATATAATATATTATATATTA TAGAATATAATATATAATATATTATATATTATAGAATATAATATATAATA TATTATATATTATAGAATATAATATATAATATATTATATATTATAGA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0280 a0001c0001t0006g0280	1	286	0.0035	496	c.17 others(515): Show c.174+9557_*174+9558insTCTATAATATATAATATATTATATAT TATATTCTATAATATATAATATATTATATATTATATTCTATAATATATAA TATATTATATATTATATTCTATAATATATAATATATTATATATTATATTC TATAATATATAATATATTATATATTATATTCTATAATATATAATATATTA TATATTATATTCTATAATATATAATATATTATATATTATATTCTATAATA TATAATATATTATATATTATATTCTATAATATATAATATATTATATATTA TATTCTATAATATATAATATATTATATATTATATTCTATAATATATAATA TATTATATATTATATTCTATAATATATAATATATTATATATTATAGAATA TAATATATAATATATTATATATTATAGAATATAATATATAATATATTATA TATTATAGAATATAATATATAATATATTATATATTATAGAATATAATATA TAACATAATATATATTATAG	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SNTG2_chr2_945849_1372613	1221479	C C	CTCTGTCT others(489): Show CTCTGTCTCTTTGTCCCTCTCTGTCTCTCTCTGTCTCTGTCTCTAGCTCT GCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCACT GTCTCTGCCTCTGTCTCTGCCTCTCTGTGTCTCTCTGCCCCTCCCTCTGT CTCTCTCTGTCCCTCTCAGTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCT CTGCCTCTGCCTCTCTCTGTCTCTGCCTCTGCCTCTCTCTGTCTCTCTGT CTCTGTCTCTCTCTGTCTCTGCCTCTGTCTCTCTCTTTGTCCCTCTCTGT CTCTGTCTCTCTCTGTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCCCTCT CTGTCTCTCCCTGTCTCTGTCTCTCTGTCGCTGTCTCTGCCTCTGTCTCT GCCTCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCTTT CAGTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCTCTGTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0151 a0004c0004t0001g0151	1	45	0.0222	496	c.719 others(515): Show c.719+12252_719+12253insGTCTCTTTGTCCCTCTCTGTCTCTCT CTGTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCT GTCTCTGTCTCTCTGTCACTGTCTCTGCCTCTGTCTCTGCCTCTCTGTGT CTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCTCTCAGTCTCTGGTTTT GTCTCTGTCTCTCTCTGTCTCTGCCTCTGCCTCTCTCTGTCTCTGCCTCT GCCTCTCTCTGTCTCTCTGTCTCTGTCTCTCTCTGTCTCTGCCTCTGTCT CTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTAGCT CTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCG CTGTCTCTGCCTCTGTCTCTGCCTCTCTCTGTGTCTCTCTGCCCCTCCCT CTGTCTCTCTCTGTCCCTTTCAGTCTCTGGTTTTGTCTCTGTCTCTCTCT GTCTCTGTCTCTCTCTGTCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX6_chr14_34556093_34635148	34557496	A A	ATTCTTCT others(489): Show ATTCTTCTTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCCTC TTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTT CCTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0288 a0001c0001t0011g0288	1	68	0.0147	496	c.56 others(507): Show c.5625_*5626insGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGA AGAGGAAGAGGAAGAGGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAG AAGAAAGAAGAA	SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding		3596		chr14	TogoVar
SNX9_chr6_157818246_157950077	157826849	T T	TATATAAT others(489): Show TATATAATATATAAATATATATTATAGTTTATATAATATATAAATATATA TTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATA AATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATAT AATATATAAATATATATTATAGTTTATATAATATATAAATATATATTATA GTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAATAT ATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATAT ATAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTA TATAATATATAAATATATATTATAGTTTATATAATATATAAATATATATT ATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATATA TATATTATAGTTTATATAATATATATATATATATTATAGTTTATATA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01516.hp2 HG01257.hp1 HG01258.hp2 HG01516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051	3	116	0.0259	496	c.12+ others(511): Show c.12+3408_12+3409insATATATAAATATATATTATAGTTTATATAA TATATAAATATATATTATAGTTTATATAATATATAAATATATATTATAGT TTATATAATATATAAATATATATTATAGTTTATATAATATATAAATATAT ATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATAT AAATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATA TAATATATAAATATATATTATAGTTTATATAATATATAAATATATATTAT AGTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAATA TATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATA TATAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTTT ATATAATATATATATATATTATAGTTTATATAATATATATATATATATTA TAGTTTATATAATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827089	C C	CATATATT others(489): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAACA TATATTATAGTTTATATATTATATAAACATATAGTTTATATAATATATAA ACATATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAAC ATATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATA AACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATAT AATATATACACATATATTATAGTTTATATAATATATACACATATATTATA GTTTATATAATATATACACATATATTATAGTTTATATAATATATACA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	210	0.0048	496	c.12+ others(511): Show c.12+3669_12+3670insAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATAGTTTATATAATATATAAACATATATTA TAGTTTATATATTATATAAACATATAGTTTATATAATATATAAACATATA GTTTATATAATATATAAACATATAGTTTATATAATATATAAACATATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATAT ACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATA TAATATATACACATATATTATAGTTTATATAATATATACAATATATTATA GTTTATATAATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827089	C C	CATATATT others(489): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATAT AAACATATAGTTTATATAATATATAAACATATAGTTTATATAATATATAA ACATATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAAC ATATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATA CACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATAT AATATATACACATATATTATAGTTTATATAATATATACACATATATTATA GTTTATATAATATATACACATATATTATAGTTTATATAATATATAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	210	0.0048	496	c.12+ others(511): Show c.12+3669_12+3670insAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATA TAGTTTATATAATATATAAACATATAGTTTATATAATATATAAACATATA GTTTATATAATATATAAACATATAGTTTATATAATATATAAACATATAGT TTATATAATATATACACATATATTATAGTTTATATAATATATACACATAT ATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATAT ACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATA TAATATATACACATATATTATAGTTTATATAATATATAAAATATATTATA GTTTATATAATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPATA13_chr13_24155720_24312069	24190256	T T	TATATATC others(489): Show TATATATCATTATATAACATATAATGATATATAATATATATCATTATATA ACATATAATGATATATAATATATATCATTATATAACATATAATGATATAT AATATATATCATTATATAACATATAATGATATATAATATATATCATTATA TAACATATAATGATATATAATATATATCATTATATAACATATAATGATAT ATAATATATATCATTATATAACATATAATGATATATAATATATATCATTA TATAACATATAATGATATATAATATATATCATTATATAACATATAATGAT ATATAATATATATCATTATATAACATATAATGATATATAATATATATCAT TATATAACATATAATGATATATAATATATATCATTATATAACATATAATG ATATATAATATATATTATATAACATGATGATATATAATATATATTATTAT ATAACATATGATGATATATAATATATATTATTATATAACATATGATG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0004 a0001c0001t0023g0004	1	335	0.0030	496	c.-11 others(517): Show c.-112+29327_-112+29328insTATCATTATATAACATATAATGAT ATATAATATATATCATTATATAACATATAATGATATATAATATATATCAT TATATAACATATAATGATATATAATATATATCATTATATAACATATAATG ATATATAATATATATCATTATATAACATATAATGATATATAATATATATC ATTATATAACATATAATGATATATAATATATATCATTATATAACATATAA TGATATATAATATATATCATTATATAACATATAATGATATATAATATATA TCATTATATAACATATAATGATATATAATATATATCATTATATAACATAT AATGATATATAATATATATCATTATATAACATATAATGATATATAATATA TATCATTATATAACATATAATGATATATAATATATATTATATAACATGAT GATATATAATATATATTATTATATAACATATGATGATATATAATATATAT TATTATATAACATATGATGATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(489): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGGGAGGGGGAGGTGG GAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGGAG GGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAAGG GGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGG AGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATG GGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGG GGAAGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGAA CGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGAAGGGGGAGGGGG AACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	12	0.0833	496	c.34 others(505): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCC CTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTC CCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGC TTCCCCCTCCCCCTTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCC TCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCC CCCTCCCCCTCCCACCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCCTCCC CCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCCCTCCCCCTTCC CCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
TBC1D22A_chr22_46757650_47180693	46772292	T T	TACACATA others(489): Show TACACATATATATGTATACACACATACACATATATATGTATACACACATA CACATATATATGTATACACACATACACATATATATGTATACACACATACA CATATATATGTATACACACATACACATATATATGTATACACACATACACA TATATATGTATACACACATACACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACACACATATATATGTATACACACACACATATATATGTA TACACACACATATATATGTATACACACACATATATATGTATACACACACA TATATATGTATACACACACATATATATGTATACACACATACATATATATG TATACACACATACATATATATGTATACACACATACATATATATGTATACA CACATACATATATATGTATACACACATACATATATATGTATACACAC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0111 a0001c0001t0003g0111	1	101	0.0099	496	c.62+ others(511): Show c.62+9445_62+9446insCACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACATACACATATATATGTATACACACATACACATATATATG TATACACACATACACATATATATGTATACACACATACACATATATATGTA TACACACATACACATATATATGTATACACACACACATATATATGTATACA CACACACATATATATGTATACACACACATATATATGTATACACACACATA TATATGTATACACACACATATATATGTATACACACACATATATATGTATA CACACATACATATATATGTATACACACATACATATATATGTATACACACA TACATATATATGTATACACACATACATATATATGTATACACACATACATA TATATGTATACACACA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TERT_chr5_1248167_1300068	1273665	A A	ACATCAGA others(489): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC GACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGA CCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCA TCCACAGTCACCACACATCAGACCCCACGACTGCCATCCACAGTCACCAC ACATCAGACCCTACGACCGCCATCCACAGTCACCACACATCAGACCCCAC GACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCTACGACCGCCATCCACAGTCACCACACATCAGA CCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCA TCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0079	1	373	0.0027	496	c.228 others(515): Show c.2287-1386_2287-1385insGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGT CGTAGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGAT GGCGGTCGTAGGGTCTGATGTGTGGTGACTGTGGATGGCAGTCGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG TGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGAT GGCGGTCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THEG_chr19_356747_381026	377030	C C	CCTGTGCC others(489): Show CCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCC CTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTC CCCCTGTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAG CCTCTCCCCCTGTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACC CAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCA CCCAGCCTCTCCCCCTGTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCC CCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTG CCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0326 a0001c0001t0003g0326	1	360	0.0028	496	c.-10 others(507): Show c.-1061_-1060insCGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAG AGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGG AGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACACAGG GGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACAGA GGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCAC ACAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGG GGGCACACAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGG TGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGG GTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTG GGTGGGGCACAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1005		chr19	TogoVar
TH_chr11_2158929_2176815	2161948	C C	CACCCCTG others(489): Show CACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTG TCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACA CCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTG TCCCCAGACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCAC ACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGT CCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACAC CCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTC CCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACAC CCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCC CCGGGACCCCTGTCCTCACACCCCTGTCCCCAGGACCCTGTCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0096 a0001c0004t0004g0096	1	12	0.0833	496	c.22 others(507): Show c.2284_*2285insCCGGGGACAGGGTCCTGGGGACAGGGGTGTGAGG ACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGG TGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGG ACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGG TGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGA CAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTG TGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGAC AGGGGTCTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTC CCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGAC AGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGT GGGGACAGGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		1980		chr11	TogoVar
TM4SF19_chr3_196318547_196343388	196334825	G G	GATGCCCT others(489): Show GATGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGG GTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTAGGAGA AGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGTGCCCTG AGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGTA GGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGG TGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTG GGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGG AAGGGATGCCCTGAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGG GAGGGTGGGTGTAGGAGAGGGAAGGGTGCCCTGAGAAGGTGGGGGTTAGG AGAAGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	341	0.0029	496	c.-2+ others(511): Show c.-2+3438_-2+3439insTCCCTTCCCTCTCCTACACCCACCCTCCCA GTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAGGGCACCCTTCCCT CTCCTACACCCACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCACC TTCTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTCCCAGTGCACCCC TCCCTTCTCCTAACCCCCACCTTCTCAGGGCATCCCTTCCCTCTCCTACA CCCACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAGG GCATCCCTTCCCTCTCCTACACCCACCCTCCCAGTGCACCCCTCCCTTCT CCTAACCCCCACCTTCTCAGGGCACCCTTCCCTCTCCTACACCCACCCTC CCAGTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAGGGCATCCCTT CCCTCTCCTACACCCACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCC CACCTTCTCAGGGCAT	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4			chr3	TogoVar
TNS1_chr2_217794791_218007995	217809316	C C	CATGGATG others(489): Show CATGGATGGATGGATGGATGCATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGCATGGATGGATGGATGGATGGATGCATGGATGGATGGATG GATGGATGGATGGATAGGTGCATGGATGGATGCATGGATGGATGGATGGA TGGATGGATGGATGCATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATAGGTGCATGGATGGATGCATGGATGGATGCATGGATGGA TGGATGGATGGATGGATGGATGGATGCATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGCATGGATGGATGGATAGGTGCATGGATGGA TGGATGGATGGATGGATGGATGGATAGGTGCATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGCATGGATGGATGGATGGATGGATGGA TGGATGGATGGATGCATGGATGGATGGATGGATGGATGCATGGATGG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0041 a0002c0003t0002g0041	1	152	0.0066	496	c.527 others(513): Show c.5273+506_5273+507insCCATCCATGCATCCATCCATCCATCCAT CCATGCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCACCTATCCAT CCATCCATCCATCCATCCATCCATCCATGCACCTATCCATCCATCCATGC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCAT CCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGCATCCATCC ATGCACCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATGCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGC ACCTATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATCCAT CCATCCATGCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGC ATCCATCCATCCATCCAT	TNS1	ENSG00000079308.21	transcript	ENST00000682258.1	protein_coding	30/32			chr2	TogoVar
TSNARE1_chr8_142207080_142408182	142390830	G G	GTAGCAGA others(489): Show GTAGCAGACGCTGTACACTGCGGGGGACTCCGTAGCAGACGCTGTACACT GCGGGGGACTCCGTAGCAGACGCTGTACACTGCGGGGGACTCCGTAGCAG ACGCTGTACACTGCGGGGGACTCCGTAGCAGACGCTGTACACTGCGGGGG ACTCCGTAGCAGACGCTGTACACTGCGGGGGACTCCGTAGCAGACGCTGT ACACTGCGGGGGACTCCGTAGCAGACGCTGTACACTGCGGGGGACTCCGT AGCAGACGCTGTACACTGCGGGGGACTCCGTAGCAGACGCTGTACACTGC GGGGGACTCCGTAGCAGACGCTGTACACTGCTGGGGACTCTATAGCAGAC GCTGTACACTGCTGGGGACTCTATAGCAGACGCTGTACACTGCGGGGGAC TCCGTAACAGACGCTGTACACTGCTGGGGACTCCGTAACAGACGCTGTAC ACTGCTGGGGACTCCGTAACAGACGCTGTACACTGCAGGGGACTCTA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0229 a0006c0006t0002g0229	1	231	0.0043	496	c.-40 others(515): Show c.-40+12273_-40+12274insTAGAGTCCCCTGCAGTGTACAGCGTC TGTTACGGAGTCCCCAGCAGTGTACAGCGTCTGTTACGGAGTCCCCAGCA GTGTACAGCGTCTGTTACGGAGTCCCCCGCAGTGTACAGCGTCTGCTATA GAGTCCCCAGCAGTGTACAGCGTCTGCTATAGAGTCCCCAGCAGTGTACA GCGTCTGCTACGGAGTCCCCCGCAGTGTACAGCGTCTGCTACGGAGTCCC CCGCAGTGTACAGCGTCTGCTACGGAGTCCCCCGCAGTGTACAGCGTCTG CTACGGAGTCCCCCGCAGTGTACAGCGTCTGCTACGGAGTCCCCCGCAGT GTACAGCGTCTGCTACGGAGTCCCCCGCAGTGTACAGCGTCTGCTACGGA GTCCCCCGCAGTGTACAGCGTCTGCTACGGAGTCCCCCGCAGTGTACAGC GTCTGCTACGGAGTCCCCCGCAGTGTACAGCGTCTGCTACGGAGTCCCCC GCAGTGTACAGCGTCTGCTA	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	1/13			chr8	TogoVar
TWIST2_chr2_238843085_238915534	238870169	A A	ACACACCC others(489): Show ACACACCCCACACACACCACACACCCCACACACACCACACACACCACACA CCCCACACACCCACACACACCACACACCCTACACACCCCACACACACCAC ACCCCACACACACCACACCCCATACACACCACACACACCACACACACCAC ACACCCCACACACACCACACAAACCACACACCCTACACACCCCACACACA CCACACCCCACACACACCACACACCCCACACACACCACACACACCACACA CCCCACACACACCACACACCCTACACACCCCATACACACCACACCCCACA CACACCACACACCCCACACACACCACACCCCACACACACCACACACCCCA CACACACAACACACCCCACACACACCACACAAACCACATACCACACACCC CACACACACCACACACCCCACACACACCACACCCCATACACACCACACAC CCCACACACACCACACAAACCACACACCCTACACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	305	0.0033	496	c.35 others(515): Show c.35+21452_*35+21453insCACACACCCCACACACACCACACACA CCACACACCCCACACACCCACACACACCACACACCCTACACACCCCACAC ACACCACACCCCACACACACCACACCCCATACACACCACACACACCACAC ACACCACACACCCCACACACACCACACAAACCACACACCCTACACACCCC ACACACACCACACCCCACACACACCACACACCCCACACACACCACACACA CCACACACCCCACACACACCACACACCCTACACACCCCATACACACCACA CCCCACACACACCACACACCCCACACACACCACACCCCACACACACCACA CACCCCACACACACAACACACCCCACACACACCACACAAACCACATACCA CACACCCCACACACACCACACACCCCACACACACCACACCCCATACACAC CACACACCCCACACACACCACACAAACCACACACCCTACACACCCCACAC ACACCACACCCCACACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBTD1_chr10_97493924_97576206	97528677	C C	CCCCCCAC others(489): Show CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACT CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCAGGGGGCTGACCCCCAACCTCCCTCCCGGACGGGG CGGCTCGCCTGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGTGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGAC CCCCAACCTCCCTCCCGGACGGGGCGGCTTGCCTGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18612.hp2 NA18956.hp2 others(3): Show HG00423.hp2 NA18612.hp2 NA18956.hp2 NA18968.hp1 NA19011.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0151 a0001c0001t0001g0186 a0001c0001t0001g0188 others(3): Show a0001c0001t0001g0151 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0008g0187	6	302	0.0199	496	c.70+ others(513): Show c.70+29452_70+29453insTCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACC CCCAACCTCCCTCCCGGACGGGGCGGCTCGCCTGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACTCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGTGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCAGGGGGCTGACCCCCAACCTCCCTCCCGGACGGGGCGG CTTGCCTGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGAACCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGAC	UBTD1	ENSG00000165886.5	transcript	ENST00000370664.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
UBTD1_chr10_97493924_97576206	97528677	C C	CCCCCCAC others(489): Show CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACT CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCAGGGGGCTGACCCCCAACCTCCCTCCCGGACGGGG CGGCTCGCCTGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACTCCCCCACCTCCCTCCCGGATGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGTGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGAC CCCCAACCTCCCTCCCGGACGGGGCGGCTTGCCTGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGAA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	297	0.0034	496	c.70+ others(513): Show c.70+29452_70+29453insTCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACC CCCAACCTCCCTCCCGGACGGGGCGGCTCGCCTGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACTCCC CCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGTGCCCCTCACCTCCCGGACGGGGC GGCTGGCCGGGCAGGGGGCTGACCCCCAACCTCCCTCCCGGACGGGGCGG CTTGCCTGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCTGGGCGGGGGGCTGAACCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGAC	UBTD1	ENSG00000165886.5	transcript	ENST00000370664.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
VCX_chrX_7838171_7849143	7844325	T T	TGGTGTGT others(489): Show TGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGA GGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGAAGA GGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGA GGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAA GAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGG AGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAG GGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0001 a0004c0004t0001g0001	1	291	0.0034	496	c.30 others(505): Show c.309_*310insGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGT GGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGTGTGG GGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGT GTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGG AGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGTGTGGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGTGTG GGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGA GGGAGGAAGA	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		183		chrX	TogoVar
VCX_chrX_7838171_7849143	7844370	A A	AGGGAGGG others(489): Show AGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGG AAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	150	0.0067	496	c.35 others(505): Show c.354_*355insGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAG GGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAA GAGGTGTGTG	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		228		chrX	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CGATAGAT others(489): Show CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0173 a0001c0001t0003g0173	1	177	0.0056	496	c.53+ others(511): Show c.53+2028_53+2029insAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CGATAGAT others(489): Show CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0172 a0001c0001t0003g0172	1	177	0.0056	496	c.53+ others(511): Show c.53+2028_53+2029insAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(489): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCTCCT CCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTCCCC TCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTC TCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCC TCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCCTCCCCCTCTCCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCCTCCCCCTCCCCT CCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCT CCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0122 a0002c0002t0009g0122	1	33	0.0303	496	c.53- others(509): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCT CTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCC TCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCCTCCCCCT CTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCCCCCTCCCCC TCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCC TCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCC CTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253209	C C	CCCCCTCC others(489): Show CCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCT CTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGTCCCCCTCCTCTCCCCCT CTCCCCTCCCCCTCTCCTCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCTCCC CCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCC CCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0099 a0001c0001t0022g0099	1	238	0.0042	496	c.53- others(509): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTC TCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCC CCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTGT CCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCTCTCC CCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCC CCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCC TCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCC TCCCTCTCCCCTCT	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13			chr10	TogoVar
WDR64_chr1_241647281_241807777	241674918	T T	TCCTTCCT others(489): Show TCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTG CCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTC CCTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCC TCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTC CCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTC CTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCTGCCTCCC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0168 a0001c0002t0001g0168	1	197	0.0051	496	c.483 others(511): Show c.483+171_483+172insCCTTCCTGCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTC CCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCTGCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCC TCCCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTC CCTCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTC CTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCC CTCCTTCCTGCCTCCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27			chr1	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(489): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	25	0.0400	496	c.483 others(511): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTTCC TCCCTCCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(489): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTC CTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp2 NA19062.hp2 NA18973.hp1 NA18973.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0111 a0001c0001t0004g0238 a0001c0001t0004g0244 a0001c0001t0001g0111 a0001c0001t0004g0238 a0001c0001t0004g0244	3	27	0.1111	496	c.483 others(511): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCT TCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(489): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTC CTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCC TGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTTCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0040	1	25	0.0400	496	c.483 others(511): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTTCC TCCCTCCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCT CCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTTCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(489): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTC CTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0232 a0004c0005t0002g0232	1	25	0.0400	496	c.483 others(511): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTTCC TCCCTCCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(489): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTC CTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	25	0.0400	496	c.483 others(511): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTTCC TCCCTCCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTTCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(489): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTC CTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTTCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0273 a0001c0002t0002g0273	1	25	0.0400	496	c.483 others(511): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCC TCCCTCCCTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(489): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTTCCTC CCTCCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0003 a0002c0012t0003	a0002c0012t0003g0073 a0002c0012t0003g0073	1	25	0.0400	496	c.483 others(511): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCCTCCTTCCTCCC TCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTTCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WDR87_chr19_37879823_37911594	37881038	A A	ATATATAT others(489): Show ATATATATATATAATATATATATATTATATATATATATATAATATATATA TATTATATATATAATATATATATTATATATATATATATAATATATATAAT ATATATATAATATATATATATTATATATATTATATATATTATATATATTA TATATATATTATATATATATTATATATATATAATATATATAATATATATA TAATATATATTATATATATAATATATATATATTATATATATAATATATAT ATTTAATATATATATTATATATAATATATATATTATATATATAATATATA TATTTAATATATATTATATATATAATATATATATTATATATATAATATAT ATTTAATATATATATTATATATATAATATATATATTATATATATATAATA TATATTTAATATATATAATATATATATAATATATATTATATATAATATAT ATATTTAATATATATTATATATATAATATATATATTATATATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0159 a0003c0009t0001g0159	1	239	0.0042	496	c.38 others(507): Show c.3893_*3894insATTATATATATAATATATATATTATATATATAAT ATATATTAAATATATATATTATATATAATATATATTATATATATATTATA TATATTAAATATATATTATATATATATAATATATATATTATATATATAAT ATATATATTAAATATATATTATATATATAATATATATATTATATATATAA TATATATTAAATATATATATTATATATATAATATATATATTATATATAAT ATATATATTAAATATATATATTATATATATAATATATATATATTATATAT ATAATATATATTATATATATATTATATATATTATATATATATAATATATA TATAATATATATATAATATATATAATATATATAATATATATAATATATAT ATATTATATATATATTATATATATTATATATATATATATAATATATATAT TATATATATAATATATATATATTATATATATATATATAATATATATATAT TATATATATATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3784		chr19	TogoVar
ZC3H12B_chrX_65029826_65512887	65450462	T T	TATATGTG others(489): Show TATATGTGTATATATGTATATATGTATATATGTACATATGTATATATATG TATATATGTACATATGTATATATATGTATATATGTATATATACATATGTA TATATATGTACATATGTATATATATACATGTATACATATGTATACATGTA TATATATACATATGTATACATGTATATATGTATATATATACATGTATACA TATGTATATATGTATACATATGTATATATGTATATATGTATAAATATACA TATGTATATATATGTATATATGTATACATATGTATATATACATATGTATA TATATGTATATATGTATACATATGTATATATACATATGTATATATATGTA TACATATGCATATATACATATGTACATATATGTATATATGTATACATATG TATATATGCATATATATACATATGTATATATGCATATATATACATATGTG TATATATGTATATATGTATACATATGTGTATATATGTATATGTATAC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	93	0.0108	496	c.-15 others(517): Show c.-156-38164_-156-38163insATGTATATATGTACATATGTATAT ATATGTATATATGTACATATGTATATATATGTATATATGTATATATACAT ATGTATATATATGTACATATGTATATATATACATGTATACATATGTATAC ATGTATATATATACATATGTATACATGTATATATGTATATATATACATGT ATACATATGTATATATGTATACATATGTATATATGTATATATGTATAAAT ATACATATGTATATATATGTATATATGTATACATATGTATATATACATAT GTATATATATGTATATATGTATACATATGTATATATACATATGTATATAT ATGTATACATATGCATATATACATATGTACATATATGTATATATGTATAC ATATGTATATATGCATATATATACATATGTATATATGCATATATATACAT ATGTGTATATATGTATATATGTATACATATGTGTATATATGTATATGTAT ACATATGTGTATATATGTATAT	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZC3H12B_chrX_65029826_65512887	65450462	T T	TATATGTG others(489): Show TATATGTGTATATATGTATATATGTATATATGTACATATGTATATATATG TATATATGTACATATGTATATATATGTATATATGTATATATACATATGTA TATATATGTACATATGTATATATATACATGTATACATATGTATACATGTA TATATATACATATGTATACATGTATATATGTATATATATACATGTATACA TATGTATATATGTATACATATGTATATATGTATATATGTATAAATATACA TATGTATATATATGTATATATGTATACATATGTATATATACATATGTATA TATATGTATATATGTATACATATGTATATATACATATGTATATATATGTA TACATATGCATATATACATATGTATATATATGTATATATGTATACATATG TATATATGCATATATATACATATGTATATATGCATATATATACATATGTG TATATATGTATATATGTATACATATGTGTATATATGTATATGTATAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00735.hp1 others(15): Show HG00140.hp1 HG00280.hp1 HG00735.hp1 HG01109.hp1 HG01256.hp1 HG01433.hp1 HG02027.hp1 HG02071.hp1 HG02129.hp1 HG03654.hp1 NA18984.hp1 NA18988.hp1 NA19006.hp1 NA19009.hp1 NA19012.hp1 NA19070.hp1 NA20300.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0018 others(15): Show a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0006g0047 a0001c0001t0006g0049	18	110	0.1636	496	c.-15 others(517): Show c.-156-38164_-156-38163insATGTATATATGTACATATGTATAT ATATGTATATATGTACATATGTATATATATGTATATATGTATATATACAT ATGTATATATATGTACATATGTATATATATACATGTATACATATGTATAC ATGTATATATATACATATGTATACATGTATATATGTATATATATACATGT ATACATATGTATATATGTATACATATGTATATATGTATATATGTATAAAT ATACATATGTATATATATGTATATATGTATACATATGTATATATACATAT GTATATATATGTATATATGTATACATATGTATATATACATATGTATATAT ATGTATACATATGCATATATACATATGTATATATATGTATATATGTATAC ATATGTATATATGCATATATATACATATGTATATATGCATATATATACAT ATGTGTATATATGTATATATGTATACATATGTGTATATATGTATATGTAT ACATATGTGTATATATGTATAT	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZC3H12B_chrX_65029826_65512887	65450462	T T	TATATGTG others(489): Show TATATGTGTATATATGTATATATGTATATATGTACATATGTATATATATG TATATATGTACATATGTATATATATGTATATATGTATATATACATATGTA TATATATGTACATATGTATATATATACATGTATACATATGTATACATGTA TATATATACATATGTATACATGTATATATGTATATATATACATGTATACA TATGTATATATGTATACATATGTATATATGTATATATGTATACATATGTA TATATGTATATATGTATAAATATACATATGTATATATATGTATATATGTA TACATATGTATATATACATATGTATATATATGTATATATGTATACATATG TATATATACATATGTATATATATGTATACATATGCATATATACATATGTA TATATATGTATATATGTATACATATGTATATATGCATATATATACATATG TATATATGCATATATATACATATGTGTATATATGTATATATGTATAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	93	0.0108	496	c.-15 others(517): Show c.-156-38164_-156-38163insATGTATATATGTACATATGTATAT ATATGTATATATGTACATATGTATATATATGTATATATGTATATATACAT ATGTATATATATGTACATATGTATATATATACATGTATACATATGTATAC ATGTATATATATACATATGTATACATGTATATATGTATATATATACATGT ATACATATGTATATATGTATACATATGTATATATGTATATATGTATACAT ATGTATATATGTATATATGTATAAATATACATATGTATATATATGTATAT ATGTATACATATGTATATATACATATGTATATATATGTATATATGTATAC ATATGTATATATACATATGTATATATATGTATACATATGCATATATACAT ATGTATATATATGTATATATGTATACATATGTATATATGCATATATATAC ATATGTATATATGCATATATATACATATGTGTATATATGTATATATGTAT ACATATGTGTATATATGTATAT	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZNF365_chr10_62369369_62407450	62370969	G G	GTGATATA others(489): Show GTGATATATATCGCATATGTGATATATATCATATCACATATCATATGACA TATCATATCACATATCACATATCACATATCACATATCACATATCATATGA TATATATCACATGTGATATATAGCATATGTGATATATATCATATATATCA CATGTGATATATAGCATATGTGATATATATCATATATATCACATATGATA TATAGCATATGTGATATATATCATATATATCACATATGCTATATAGCATA TGTGATATATATCATATATATCACATATGCTATATAGCATACGTGATATA TATCATATATATCATATATGATGTATAGCATGATATATATGCTATATATC ACATGTGATATATAGCATATATATCACATGTGATATATAGCATATATATC ACATGTGATATATAGCATATGTGATATATATGATATATGTGATATATATC ATATGTGATATATATGATATATATCACATATATATGATATATATCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	2	254	0.0079	496	c.-35 others(507): Show c.-3503_-3502insTGATATATATCGCATATGTGATATATATCATATC ACATATCATATGACATATCATATCACATATCACATATCACATATCACATA TCACATATCATATGATATATATCACATGTGATATATAGCATATGTGATAT ATATCATATATATCACATGTGATATATAGCATATGTGATATATATCATAT ATATCACATATGATATATAGCATATGTGATATATATCATATATATCACAT ATGCTATATAGCATATGTGATATATATCATATATATCACATATGCTATAT AGCATACGTGATATATATCATATATATCATATATGATGTATAGCATGATA TATATGCTATATATCACATGTGATATATAGCATATATATCACATGTGATA TATAGCATATATATCACATGTGATATATAGCATATGTGATATATATGATA TATGTGATATATATCATATGTGATATATATGATATATATCACATATATAT GATATATATCAC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3399		chr10	TogoVar
ZSCAN32_chr16_3377085_3406004	3393202	T T	TTCTATAT others(489): Show TTCTATATATATAAATATATATATATTTCTATATATATAAATATATATAT TTATATATATAGAAATATATATATATTTATATATATAGAAATATATATAT TTATATATATATAAATATATATATATTTATATATATATAAATATATATAT ATTTCTATATATATATAAATATATATATATTTCTATATATATATAAATAT ATATATATTTCTATATATATATAAATATATATATATTTCTATATATATAA ATATATATATATAAATATATATATAAATATATATTTATATATATATAAAT ATATATATATAAATATATATAAATATATATATATTTATATATATAAATAT ATATATATTTATATATATAAATAAATATATATTTATATATATAAATAAAT ATATATTTATATATATAAATATATATATTTTTATATATATAAATATATAT ATATTTATATATATAAATATATATATTTTTATATATATAAATATATA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0260	1	59	0.0169	496	c.532 others(511): Show c.532+446_532+447insTATATATTTATATATATAAAAATATATATA TTTATATATATAAATATATATATATTTATATATATAAAAATATATATATT TATATATATAAATATATATTTATTTATATATATAAATATATATTTATTTA TATATATAAATATATATATATTTATATATATAAATATATATATATTTATA TATATTTATATATATATATTTATATATATATAAATATATATTTATATATA TATTTATATATATATATTTATATATATAGAAATATATATATATTTATATA TATATAGAAATATATATATATTTATATATATATAGAAATATATATATATT TATATATATATAGAAATATATATATATTTATATATATATAAATATATATA TATTTATATATATATAAATATATATATTTCTATATATATAAATATATATA TATTTCTATATATATAAATATATATATTTATATATATAGAAATATATATA TATTTATATATATAGA	ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6			chr16	TogoVar

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