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
CCDC192_chr5_127698391_127946507	127874978	T T	TGTAATCC others(278): Show TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0089 a0002c0004t0001g0089	1	234	0.0043	285	c.412 others(300): Show c.412-560_412-559insGTAATCCCAGCACTTTGGGAGGCCGAGGCG GGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAA ACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGC GCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAA	CCDC192	ENSG00000230561.7	transcript	ENST00000514853.5	protein_coding	5/6			chr5	TogoVar
CCDC77_chr12_396644_447642	419502	T T	TTCTGTGT others(278): Show TTCTGTGTGTGCTGGGAGTGAGGGTAAAATACACATAGCAGCACACTCCA TGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGATA AACACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTG TGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATGC TCCATTACAGTGCTCTTCTGTGTGTGCTGGGAGTGAGAGGGTAAAATACA CATAGCAGCACACTCCATGTTCCATTACAGTGCTCC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	432	0.0023	285	c.413 others(300): Show c.413+876_413+877insCTGGGAGTGAGGGTAAAATACACATAGCAG CACACTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGT GAGAGGATAAACACACATAGCAGCACACTCCATGTTCCATTACAGTGCAC TTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCAC CCTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGCTGGGAGTGAGAGGG TAAAATACACATAGCAGCACACTCCATGTTCCATTACAGTGCTCCTCTGT GTGTG	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CD109_chr6_73691203_73833313	73696299	T T	TGGGCGCG others(278): Show TGGGCGCGCGGGGGGCGCGCGGGCGCGCGGGGGGCGCGCGGGCGCGCGGG GGGCGCGCGGGCGCGCGGGGGGCGCGCGGGCGCGCGGGGGGCGCGCGGGC GCGCGGGGGGCGCGCGGGCGCGCGGGGGGCGCGCGGGCGCGCGGGGGGCG CGCGGGCGCGCGGGGGGCGCGCGGGCGCGCGGGGGGCGCGCGGGCGCGCG GGGGGCGCGCGGGCGCGCGGGGGGCGCGCGGGCGCGCGGGGGGCGCGCGG GCGCGCGGGGGGCGCGCGGGCGCGCGGGGGGCGCGC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0362 a0001c0001t0028g0362	1	362	0.0028	285	c.74+ others(296): Show c.74+40_74+41insGGGCGCGCGGGCGCGCGGGGGGCGCGCGGGCGCG CGGGGGGCGCGCGGGCGCGCGGGGGGCGCGCGGGCGCGCGGGGGGCGCGC GGGCGCGCGGGGGGCGCGCGGGCGCGCGGGGGGCGCGCGGGCGCGCGGGG GGCGCGCGGGCGCGCGGGGGGCGCGCGGGCGCGCGGGGGGCGCGCGGGCG CGCGGGGGGCGCGCGGGCGCGCGGGGGGCGCGCGGGCGCGCGGGGGGCGC GCGGGCGCGCGGGGGGCGCGCGGGCGCGCGGGGGGCGCGCGGGCGCGCGG G	CD109	ENSG00000156535.15	transcript	ENST00000287097.6	protein_coding	1/32		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD69_chr12_9747486_9765901	9750455	A A	ATTTGCTG others(278): Show ATTTGCTGAGTATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TAGCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0055 a0001c0001t0004g0055	1	450	0.0022	285	c.30 others(296): Show c.3025_*3026insCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAG CTACTTGGGAGGCTGAGGCAGGAGAATGGCTTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGCGC TAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATACTCAGCAA A	CD69	ENSG00000110848.8	transcript	ENST00000228434.7	protein_coding		2030		chr12	TogoVar
CD69_chr12_9747486_9765901	9750455	A A	ATTTGCTG others(278): Show ATTTGCTGAGTATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TAGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG03225.hp2 HG01891.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0103 a0001c0001t0008g0113 a0001c0001t0004g0103 a0001c0001t0008g0113	2	450	0.0044	285	c.30 others(296): Show c.3025_*3026insCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAG CTACTTGGGAGGCTGAGGCAGGAGAATGGCTTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGC TAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAATACTCAGCAA A	CD69	ENSG00000110848.8	transcript	ENST00000228434.7	protein_coding		2030		chr12	TogoVar
CDC16_chr13_114229897_114277723	114231110	G G	GGGGTGGA others(278): Show GGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTG GATCGTGCGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAG GTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTG GTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGAGGT GGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGC TGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	380	0.0026	285	c.-39 others(296): Show c.-3975_-3974insGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCT GGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGCGG TGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTG CTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCC ATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGG AGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTG T	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3786		chr13	TogoVar
CDC16_chr13_114229897_114277723	114231135	C C	CGGTGGGG others(278): Show CGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTG CTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTG CCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGG TGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATC GTGGGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGG TTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	380	0.0026	285	c.-39 others(296): Show c.-3950_-3949insGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGG GTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGAT CGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTG GTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTG GGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGTGGG GCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGG A	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3761		chr13	TogoVar
CDC16_chr13_114229897_114277723	114231167	T T	TGGGTGGA others(278): Show TGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTG GATCGTGGGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAG GTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTG GTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGAGGT GGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGC TGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	380	0.0026	285	c.-39 others(296): Show c.-3918_-3917insGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCT GGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGAGG TGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTG CTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCC ATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGG AGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTG G	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3729		chr13	TogoVar
CDC16_chr13_114229897_114277723	114231167	T T	TGGGTGGA others(278): Show TGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTG GATCGTGGGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAG GTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTG GTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGT GGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGC TGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01515.hp1 HG01516.hp1 HG00733.hp1 HG01515.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0006 a0001c0001t0001g0089 a0001c0001t0001g0090	3	380	0.0079	285	c.-39 others(296): Show c.-3918_-3917insGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCT GGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGAGG TGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTG CTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCC ATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGG AGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTG C	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3729		chr13	TogoVar
CDC16_chr13_114229897_114277723	114231167	T T	TGGGTGGA others(278): Show TGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTG GATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAG GTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTG GTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGT GGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGC TGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG04228.hp1 HG01168.hp2 HG01169.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0006 a0001c0001t0001g0091 a0001c0001t0001g0093	3	380	0.0079	285	c.-39 others(296): Show c.-3918_-3917insGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCT GGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGG TGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTG CTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCC ATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGG AGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTG C	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3729		chr13	TogoVar
CDC16_chr13_114229897_114277723	114231224	C C	CGGGTGGA others(278): Show CGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTG GATCGTGGGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAG GTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTG GTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGAGGT GGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGC TGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	380	0.0026	285	c.-38 others(296): Show c.-3861_-3860insGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCT GGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGAGG TGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTG CTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCC ATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGG AGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTG G	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3672		chr13	TogoVar
CDC16_chr13_114229897_114277723	114231224	C C	CGGGTGGA others(278): Show CGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTG GATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAG GTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTG GTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGAGGT GGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGC TGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG03710.hp1 HG02129.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0181 a0001c0001t0001g0001 a0001c0001t0001g0181	2	380	0.0053	285	c.-38 others(296): Show c.-3861_-3860insGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCT GGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGG TGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTG CTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCC ATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGG AGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTG G	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3672		chr13	TogoVar
CDC16_chr13_114229897_114277723	114231224	C C	CGGGTGGA others(278): Show CGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTG GATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAG GTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTG GTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGAGGT GGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGC TGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	380	0.0026	285	c.-38 others(296): Show c.-3861_-3860insGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCT GGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGG TGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTG CTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCC ATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGG AGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTG G	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3672		chr13	TogoVar
CDC16_chr13_114229897_114277723	114231306	A A	AGGTGGGG others(278): Show AGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGTGGGTGGAGTGCCCATTG CTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTG CCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGG TGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATC GTGGGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGG TTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	380	0.0026	285	c.-37 others(296): Show c.-3779_-3778insGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGTGG GTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGAT CGTGCGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTG GTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTG GGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGTGGG GCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGG C	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3590		chr13	TogoVar
CDC16_chr13_114229897_114277723	114231392	G G	GTGCGGGT others(278): Show GTGCGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGG TTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGG GAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGG CTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGC GGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGC TGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	380	0.0026	285	c.-36 others(296): Show c.-3693_-3692insTGCGGGTGGAGTGCCCATTGCTGCTGGAGGTGGG GCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGG CGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTG CTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTG CCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGG TGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATC A	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3504		chr13	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(278): Show ATAGAATATATATATATAGAATATATATATAGAATATATATATATAGAAT ATATATATAGAATATATATATATAGAATATATATATAGAATATATATAGA ATATATATATATAGAATATATATATATAGAATATATATATATAGAATATA TATATATAGAATATATATATATAGAATATATATATATAGAATATATATAT ATAGAATATATATATATAGAATATATATATATAGAATATATATATATAGA ATATATATATATAGAATATATATATATAGAATATAT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	388	0.0026	285	c.487 others(302): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TAGAATATATATATATAGAATATATATATAGAATATATATATATAGAATA TATATATAGAATATATATAGAATATATATATATAGAATATATATATATAG AATATATATATATAGAATATATATATATAGAATATATATATATAGAATAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(278): Show ATAGAATATATATATATAGAATATATATATATAGAATATATATATAGAAT ATATATATAGAATATATATATATAGAATATATATATAGAATATATATATA TAGAATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATAGAATATATATATATAGAATATATATATATAGA ATATATATATATAGAATATATATATATAGAATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	388	0.0026	285	c.487 others(302): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TATAGAATATATATATAGAATATATATATAGAATATATATATATAGAATA TATATATAGAATATATATATATAGAATATATATATAGAATATATATATAT AGAATATATATATATAGAATATATATATATAGAATATATATATATAGAAT ATATATATATAGAATATATATATATAGAATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(278): Show ATAGAATATATATATATAGAATATATATATATAGAATATATATATATAGA ATATATATATATAGAATATATATATATAGAATATATATATATAGAATATA TATATATAGAATATATATATATAGAATATATATATATAGAATATATATAT AGAATATATATATAGAATATATATATAGAATATATATATATAGAATATAT ATATAGAATATATATATATAGAATATATATATAGAATATATATATATAGA ATATATATATATAGAATATATATATATAGAATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	388	0.0026	285	c.487 others(302): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATATATATATAGAATATATATATATAGAATATATATATATAGAATAT ATATATATAGAATATATATATAGAATATATATATAGAATATATATATAGA ATATATATATATAGAATATATATATAGAATATATATATATAGAATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CHODL_chr21_18239833_18272370	18251530	A A	ATATATAA others(278): Show ATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTATATATTAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTATTTATTTATTTTAATATATAAAAT ATTTTATTTATTTATTTTAATATATAAAATATTTAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0054 a0001c0001t0006g0054	1	402	0.0025	285	c.80- others(300): Show c.80-4978_80-4977insATATAAAATAAATATTTATTTTAATATATT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATATAT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTATATATT AAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTATTTATT TATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATAAAATAT TTATT	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL21A1_chr6_56051590_56252580	56098530	T T	TATATATA others(278): Show TATATATAAATATAAAAATATATATAAATATATAAATATATATAAATATA TATGTAAATATATAAATATATAGAAATATATATGTAAATCTATATATAAA TATATAAATATATATAAATCTATATATAAATATATAAATATATATAAATC TATATATAAATATATAAATATATATAAATATATGTATAAATATATAAATA TATATAAATATATGTATAAATATATAAATATATATAAAAATATATATATG AATATATAAAAAATATAAATATATAAATATATATAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0004 a0006c0011t0004	a0006c0011t0004g0090 a0006c0011t0004g0090	1	264	0.0038	285	c.181 others(304): Show c.1812+2941_1812+2942insTTATATATATTTATATATTTATATTT TTTATATATTCATATATATATTTTTATATATATTTATATATTTATACATA TATTTATATATATTTATATATTTATACATATATTTATATATATTTATATA TTTATATATAGATTTATATATATTTATATATTTATATATAGATTTATATA TATTTATATATTTATATATAGATTTACATATATATTTCTATATATTTATA TATTTACATATATATTTATATATATTTATATATTTATATATATTTTTATA TTTATATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL23A1_chr5_178232618_178595393	178294342	C C	CCCCAAAT others(278): Show CCCCAAATCACTACCGAGCTCCCTCCCCAAATCACTACCGAGCTCCCTCC CAAATCACTACCCAGCTCCCTCCCCAAATCACTACCGAGCTCCCTCCCCA AATCACTACCGAGCTCCCTCCCCAAATCACTACCGAGCTCCCTCCCAAAT CACTACCGAGCTCCCTCCCCAAATCACTACCGAGCTCCCTCCCCAAATCA CTACCGAGCTCCCTCCCCAAATCACTACCCAGCTCCCTCCCCAAATCACT ACCGAGCTCCCTCCCCAAATCACTACCGAGCTCCCT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00558.hp1 others(14): Show HG00408.hp2 HG00423.hp2 HG00558.hp1 HG01168.hp2 HG01517.hp1 HG01952.hp1 HG02055.hp2 HG02630.hp2 HG02723.hp1 HG02970.hp1 HG02970.hp2 HG03195.hp1 HG03225.hp1 HG03486.hp1 NA18612.hp2 NA18950.hp1 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0004 a0002c0002 others(3): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003 a0003c0005 a0006c0018	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0004t0005 a0002c0002t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0003c0005t0005 a0006c0018t0003	a0001c0001t0003g0119 a0001c0001t0003g0166 a0001c0001t0004g0081 others(14): Show a0001c0001t0003g0119 a0001c0001t0003g0166 a0001c0001t0004g0081 a0001c0001t0005g0133 a0001c0001t0005g0216 a0001c0004t0005g0059 a0001c0004t0005g0060 a0002c0002t0001g0025 a0002c0003t0002g0209 a0002c0003t0003g0158 a0002c0003t0003g0173 a0002c0003t0003g0195 a0002c0003t0004g0192 a0002c0003t0005g0068 a0002c0003t0005g0092 a0003c0005t0005g0208 a0006c0018t0003g0018	17	236	0.0720	285	c.407 others(302): Show c.407-3974_407-3973insAGGGAGCTCGGTAGTGATTTGGGGAGGG AGCTCGGTAGTGATTTGGGGAGGGAGCTGGGTAGTGATTTGGGGAGGGAG CTCGGTAGTGATTTGGGGAGGGAGCTCGGTAGTGATTTGGGGAGGGAGCT CGGTAGTGATTTGGGAGGGAGCTCGGTAGTGATTTGGGGAGGGAGCTCGG TAGTGATTTGGGGAGGGAGCTCGGTAGTGATTTGGGGAGGGAGCTGGGTA GTGATTTGGGAGGGAGCTCGGTAGTGATTTGGGGAGGGAGCTCGGTAGTG ATTTGGG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	3/28			chr5	TogoVar
COL27A1_chr9_114150537_114317511	114278403	T T	TGGTGATA others(278): Show TGGTGATAGTGGGGGTGGGAGTGGAGTGGAGGTGAGGGTGGTGGTGATGG TGATGGTGGTGGTGATGATGATGGTGGTGGTGATGGTGGTGGTGGTTGGT GGTGGTGATGATGGCGGGGGTGATGGTGGTGATGATGATGGCGGGGGTGG TGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGG GTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGTTGATGGC GGGGGTGGTGGTGGTGGTGATGATGGTGGGGGTGGG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0212 a0002c0008t0003g0212	1	308	0.0033	285	c.371 others(304): Show c.3717+2639_3717+2640insATAGTGGGGGTGGGAGTGGAGTGGAG GTGAGGGTGGTGGTGATGGTGATGGTGGTGGTGATGATGATGGTGGTGGT GATGGTGGTGGTGGTTGGTGGTGGTGATGATGGCGGGGGTGATGGTGGTG ATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGT GGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGG TGGTGGTGATGTTGATGGCGGGGGTGGTGGTGGTGGTGATGATGGTGGGG GTGGGGGTG	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	37/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
CORO2B_chr15_68573993_68732806	68700380	C C	CAAAACAT others(278): Show CAAAACATTCAGAGGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCCAGCTAAAATGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGC TACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAACA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02886.hp2 HG02896.hp2 others(4): Show HG01891.hp2 HG02886.hp2 HG02896.hp2 HG02970.hp1 HG03139.hp2 HG03486.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0016	a0001c0001t0002g0114 a0001c0001t0004g0133 a0001c0001t0005g0018 others(4): Show a0001c0001t0002g0114 a0001c0001t0004g0133 a0001c0001t0005g0018 a0001c0001t0005g0165 a0001c0001t0006g0004 a0001c0001t0006g0021 a0001c0001t0016g0250	7	256	0.0273	285	c.333 others(302): Show c.333+5138_333+5139insCACTTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCAGCTAAAATGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAACAAAAACAT TCAGAGG	CORO2B	ENSG00000103647.13	transcript	ENST00000261861.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
CPSF2_chr14_92116969_92177145	92120589	G G	GTCCGCCC others(278): Show GTCCGCCCGCCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGAGAGCCAT CACGCCCGGCTTTTTTTTTTTTTTTCTCTCTGTGGCCCAGGCTGGAGTGC AGTGGCGCAATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACC ACGCCCAGCTAATTTTTTTTGTATTTTTAGTAGACACAGGGTTTCACCAT GTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00544.hp2 others(64): Show HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp2 HG02015.hp1 HG02040.hp1 HG02135.hp2 HG02155.hp2 HG02572.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp2 HG03239.hp2 HG03704.hp1 HG03831.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp1 NA18612.hp2 NA18942.hp2 NA18946.hp2 NA18951.hp1 NA18953.hp1 NA18954.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18972.hp2 NA18977.hp1 NA18979.hp2 NA18984.hp2 NA18986.hp1 NA18991.hp1 NA18993.hp1 NA18995.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19010.hp2 NA19011.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19085.hp1 NA19087.hp2 NA19090.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 others(19): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0009 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0038 a0001c0001t0039 a0001c0001t0073 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0083 a0001c0001t0088 a0001c0001t0091 a0001c0001t0092 a0001c0001t0164 a0002c0002t0089	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(52): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0008g0005 a0001c0001t0008g0036 a0001c0001t0008g0148 a0001c0001t0008g0155 a0001c0001t0008g0159 a0001c0001t0008g0185 a0001c0001t0009g0003 a0001c0001t0009g0005 a0001c0001t0009g0006 a0001c0001t0009g0143 a0001c0001t0009g0145 a0001c0001t0009g0149 a0001c0001t0009g0163 a0001c0001t0022g0005 a0001c0001t0022g0006 a0001c0001t0023g0003 a0001c0001t0023g0035 a0001c0001t0024g0005 a0001c0001t0024g0017 a0001c0001t0024g0157 a0001c0001t0038g0013 a0001c0001t0038g0142 a0001c0001t0039g0003 a0001c0001t0073g0003 a0001c0001t0075g0013 a0001c0001t0076g0166 a0001c0001t0077g0156 a0001c0001t0078g0035 a0001c0001t0079g0158 a0001c0001t0080g0174 a0001c0001t0081g0013 a0001c0001t0083g0165 a0001c0001t0088g0160 a0001c0001t0091g0012 a0001c0001t0092g0003 a0001c0001t0164g0144 a0002c0002t0089g0017	67	388	0.1727	285	c.-16 others(296): Show c.-1633_-1632insTCCGCCCGCCTAGGCCTCCCAAAGTGCTGGGATT ACAGGCGAGAGCCATCACGCCCGGCTTTTTTTTTTTTTTTCTCTCTGTGG CCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACCACGCCCAGCTAATTTTTTTTGTATTTTTAGTAGAC ACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTG A	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1379		chr14	TogoVar
CPSF2_chr14_92116969_92177145	92120589	G G	GTCCGCCC others(278): Show GTCCGCCCGCCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAT CACGCCCGGCTTTTTTTTTTTTTTTCTCTCTGTGGCCCAGGCTGGAGTGC AGTGGCGCAATCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACC ACGCCCAGCTAATTTTTTTTGTATTTTTAGTAGACACAGGGTTTCACCAT GTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG02055.hp1 HG02258.hp1 others(18): Show HG01255.hp2 HG02055.hp1 HG02258.hp1 HG02451.hp1 HG02486.hp2 HG02615.hp1 HG02647.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03471.hp1 HG03486.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0022 others(11): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0040 a0001c0001t0052 a0001c0001t0074 a0001c0001t0082 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0090 a0001c0001t0093	a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 others(16): Show a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0008g0173 a0001c0001t0022g0038 a0001c0001t0025g0037 a0001c0001t0025g0175 a0001c0001t0025g0176 a0001c0001t0026g0151 a0001c0001t0026g0153 a0001c0001t0040g0034 a0001c0001t0052g0039 a0001c0001t0074g0038 a0001c0001t0082g0182 a0001c0001t0085g0154 a0001c0001t0086g0037 a0001c0001t0087g0177 a0001c0001t0090g0178 a0001c0001t0093g0152	21	388	0.0541	285	c.-16 others(296): Show c.-1633_-1632insTCCGCCCGCCTAGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCATCACGCCCGGCTTTTTTTTTTTTTTTCTCTCTGTGG CCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACCACGCCCAGCTAATTTTTTTTGTATTTTTAGTAGAC ACAGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTG A	CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding		1379		chr14	TogoVar
CSF2RA_chrX_1263814_1314935	1296496	G G	GTCTCCTA others(278): Show GTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGAC CCCTACACTCTCCTACCCAAGACCCCTGGCGGAACCCTACAGTCCCCTAC TCACGACCCGTACAGTCTCCTACCCATGACCCCTGGCGGAACCCTACAGT CCCCTACTCACGACCCCTACACTCTCCTACCCATGACCCCTGGCGGAACC GTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGG CGGAACCGTACAGTCCCCTACTCACGACCCCTACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01106.hp1 HG01175.hp1 others(10): Show HG00423.hp1 HG01106.hp1 HG01175.hp1 HG01346.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02683.hp1 HG03831.hp1 HG03834.hp2 NA18966.hp2 NA19080.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0015 a0001c0001 a0001c0002 a0001c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0004 a0001c0015t0003	a0001c0001t0001g0013 a0001c0001t0001g0068 a0001c0001t0001g0076 others(10): Show a0001c0001t0001g0013 a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0086 a0001c0001t0003g0001 a0001c0001t0003g0087 a0001c0001t0004g0055 a0001c0001t0004g0057 a0001c0001t0004g0114 a0001c0002t0004g0037 a0001c0002t0004g0042 a0001c0002t0004g0058 a0001c0015t0003g0081	13	159	0.0818	285	c.810 others(302): Show c.810+1067_810+1068insCCTACAGTCCCCTACTCACGACCCCTAC ACTCTCCTACCCAAGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGA CCCGTACAGTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTA CTCACGACCCCTACACTCTCCTACCCATGACCCCTGGCGGAACCGTACAG TCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGCGGAAC CGTACAGTCCCCTACTCACGACCCCTACACTCTCCTACCCATGACCCCTG GCGGAAC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1296514	C C	CTGGCGGA others(278): Show CTGGCGGAACCGTACAGTCCCCTACTCACGACCCCTACACTCTCCTACCC AAGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCC CCTACCCATGACCCCTGGAGTAACCCTACAGTCCCCTACTCACGACCCCT ACAGTCTCCTACCCATGACCCCTGGTGGAACCCTACAGTCCCCTACTCAC GACCCCTACACTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCC TACTCACGACCCCTACACTCTCCTACCCATGACCCG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0023 a0002c0004t0004g0023	1	159	0.0063	285	c.810 others(302): Show c.810+1067_810+1068insCGTACAGTCCCCTACTCACGACCCCTAC ACTCTCCTACCCAAGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGA CCCCTACAGTCCCCTACCCATGACCCCTGGAGTAACCCTACAGTCCCCTA CTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGTGGAACCCTACAG TCCCCTACTCACGACCCCTACACTCTCCTACCCATGACCCCTGGCGGAAC CCTACAGTCCCCTACTCACGACCCCTACACTCTCCTACCCATGACCCGTG GCGGAAC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1297437	C C	CTACAGTC others(278): Show CTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGG TGGAACCGTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGA CCCCTGGCGGAACCGTACAGTCCCCTACTCACGACCCCTACAGTCTCCTA CCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTACAC TCTCCTACCCATGACCCCTGGCAGAACCCTACAGTCCCCTACTCACGACC CCTACAGTCTCCTACCCATGACCCCTGGTGGAACCG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02273.hp1 HG02273.hp2 others(8): Show HG01981.hp1 HG02273.hp1 HG02273.hp2 NA18975.hp2 NA18984.hp2 NA18998.hp2 NA19010.hp2 NA19011.hp1 NA19063.hp1 NA19082.hp1 NA19091.hp2	a0001 a0009 a0011 a0001 a0009 a0011	a0001c0001 a0009c0021 a0011c0022 a0001c0001 a0009c0021 a0011c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0009c0021t0004 a0011c0022t0004	a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0075 others(8): Show a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0075 a0001c0001t0001g0085 a0001c0001t0001g0101 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0004g0159 a0001c0001t0008g0120 a0009c0021t0004g0074 a0011c0022t0004g0073	11	159	0.0692	285	c.810 others(302): Show c.810+2008_810+2009insGTCTCCTACCCATGACCCCTGGTGGAAC CGTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTG GCGGAACCGTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATG ACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTACACTCTCCT ACCCATGACCCCTGGCAGAACCCTACAGTCCCCTACTCACGACCCCTACA GTCTCCTACCCATGACCCCTGGTGGAACCGTACAGTCCCCTACTCACGAC CCCTACA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1298239	C C	CTCTCCTA others(278): Show CTCTCCTACCCATGACCCCTGGCAGAACCCTACAGTCCCCTACTCACGAC CCCTACAGTCCCCTACTCATGACCCCTGGAGTAACCCTACAGTCCCCTAC TCACGACCCCTACACTCTCCTACCCATGACCCCTGGCAGAACCCTACAGT CCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGCAGAACC CTACAGTCCCCTACTCACGACCCCTACAGTCCCCTACCCATGACCCCTGG AGTAACCCTACAGTCCCCTACTCACGACCCCTACAG	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01175.hp2 HG01496.hp2 HG01123.hp2 HG01175.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0002t0003 a0001c0001t0003 a0001c0001t0004 a0001c0002t0003	a0001c0001t0003g0090 a0001c0001t0004g0072 a0001c0002t0003g0122 a0001c0001t0003g0090 a0001c0001t0004g0072 a0001c0002t0003g0122	3	159	0.0189	285	c.811 others(302): Show c.811-2236_811-2235insCCTGGCAGAACCCTACAGTCCCCTACTC ACGACCCCTACAGTCCCCTACTCATGACCCCTGGAGTAACCCTACAGTCC CCTACTCACGACCCCTACACTCTCCTACCCATGACCCCTGGCAGAACCCT ACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGCA GAACCCTACAGTCCCCTACTCACGACCCCTACAGTCCCCTACCCATGACC CCTGGAGTAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACC CATGACC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1298239	C C	CTCTCCTA others(278): Show CTCTCCTACCCATGACCCCTGGCAGAACCCTACAGTCCCCTACTCACGAC CCCTACAGTCCCCTACTCATGACCCCTGGAGTAACCCTACAGTCCCCTAC TCACGACCCCTACACTCTCCTACCCATGACCCCTGGCGGAACCCTACAGT CCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGCAGAACC CTACAGTCCCCTACTCACGACCCCTACAGTCCCCTACCCATGACCCCTGG AGTAACCCTACAGTCCCCTACTCACGACCCCTACAG	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA19080.hp1 HG03927.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0036 a0001c0001t0004g0049 a0001c0001t0002g0036 a0001c0001t0004g0049	2	159	0.0126	285	c.811 others(302): Show c.811-2236_811-2235insCCTGGCAGAACCCTACAGTCCCCTACTC ACGACCCCTACAGTCCCCTACTCATGACCCCTGGAGTAACCCTACAGTCC CCTACTCACGACCCCTACACTCTCCTACCCATGACCCCTGGCGGAACCCT ACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGCA GAACCCTACAGTCCCCTACTCACGACCCCTACAGTCCCCTACCCATGACC CCTGGAGTAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACC CATGACC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1314691	G G	GCCCAACC others(278): Show GCCCAACCCCACTGCACTTGCCCAATTGCACTGCACCTGCCCAACCCCAA TGCACCTACCCAACCCCACTGTGCCTGCCCAACCGCACTGCACCTGCCCA ATCCCACTGCACCTGCCCAATCCCACTGCACCTGCCCAATCCCACTGCAC CTGCCCAACCCCACTGAACCTGCTCAACCCCACTTCACCTGCCCAACCGC ACTGCACTTGCCCAACCCCTCTGTGCCTGCCCAACCCCACTGCACTTGCC CAATTGCACTGCACCTGCCCAACCCCAATGCACCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0082 a0001c0002t0008g0082	1	159	0.0063	285	c.52 others(296): Show c.5212_*5213insCCCAACCCCACTGCACTTGCCCAATTGCACTGCA CCTGCCCAACCCCAATGCACCTACCCAACCCCACTGTGCCTGCCCAACCG CACTGCACCTGCCCAATCCCACTGCACCTGCCCAATCCCACTGCACCTGC CCAATCCCACTGCACCTGCCCAACCCCACTGAACCTGCTCAACCCCACTT CACCTGCCCAACCGCACTGCACTTGCCCAACCCCTCTGTGCCTGCCCAAC CCCACTGCACTTGCCCAATTGCACTGCACCTGCCCAACCCCAATGCACCT A	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		4757		chrX	TogoVar
CSNK1D_chr17_82237667_82278700	82260658	T T	TGTGACTG others(278): Show TGTGACTGATGGTGTACTGACTGATGTGACTGATGGTGTACTGACTGATG TGACTGATGGTGTACTGACTGATGGTGTACTGACTGATGTGACTGATGGT GTACTGACTGATGGTGTACTGAGTGATGTGACTGATGGTGTACTGACTGA TGTGACTGATGGTGTACTGAGTGATGTGACTGATGGTGTACTGAGTGATG TGACTGATGGTGTACTGAGTGATGGGACTGATGGTGTACTGACTGATGGT GTACTGAGTGACGTGACTGATGGTGTACTGAGTGAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03471.hp1 NA19030.hp2 HG02280.hp2 HG03471.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223	3	320	0.0094	285	c.187 others(302): Show c.187+5027_187+5028insGTCACTCAGTACACCATCAGTCACGTCA CTCAGTACACCATCAGTCAGTACACCATCAGTCCCATCACTCAGTACACC ATCAGTCACATCACTCAGTACACCATCAGTCACATCACTCAGTACACCAT CAGTCACATCAGTCAGTACACCATCAGTCACATCACTCAGTACACCATCA GTCAGTACACCATCAGTCACATCAGTCAGTACACCATCAGTCAGTACACC ATCAGTCACATCAGTCAGTACACCATCAGTCACATCAGTCAGTACACCAT CAGTCAC	CSNK1D	ENSG00000141551.15	transcript	ENST00000314028.11	protein_coding	2/8			chr17	TogoVar
CSNKA2IP_chr3_88333456_88472594	88428992	T T	TAAAATTT others(278): Show TAAAATTTTAGCAAATTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGC AGTGAGCCGAGATCGCGCCACTGCACTCCAGCCAGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18980.hp2 NA18969.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0254 a0001c0001t0002g0256	2	386	0.0052	285	c.-27 others(306): Show c.-270-36081_-270-36080insTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG TGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCAGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA TTTTAGCAAAT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CSNKA2IP_chr3_88333456_88472594	88428992	T T	TAAAATTT others(278): Show TAAAATTTTAGCAAATTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGC AGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0004 a0006c0008t0001g0004	1	386	0.0026	285	c.-27 others(306): Show c.-270-36081_-270-36080insTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG TGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA TTTTAGCAAAT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CTNND2_chr5_10966836_11909446	11391150	T T	TAAGAAAG others(278): Show TAAGAAAGGCAGGATATTCTCACTCATAGGTGGGAATTGAACAATGAGAT CACATGGACACAGGAAGGGGAATATCACACTGTGGGGACTGTGGTGGGGT CGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGA CACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAAC TAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAA AAAAAAAAAAAAATTTAACAGAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	26	0.0385	285	c.612 others(302): Show c.612+5880_612+5881insTTTTTTTTTTTTTTTCTGTTAAATTTTT TTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGT GCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCA CTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCC CTCCCCCGACCCCACCACAGTCCCCACAGTGTGATATTCCCCTTCCTGTG TCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATCCTGC CTTTCTT	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	6/21			chr5	TogoVar
CTSH_chr15_78916058_78950046	78945669	A A	ATCCCCAC others(278): Show ATCCCCACCTCGCACCCCCCCATCTCCCTGCCTGTCCCCAACTCACACCC CCCATCTCCCTGCCTGTCCCCACCTCAGACTCCCCATGTCCCTGCCTGTC TCCACCTCACACCCCCATCTCCCTGAATGTGCCCACCTCCCACCCCCTAT GTCCCTGCCTGTCCCCACCTCCCACCCCCTATGTCCCTGCCTGTCCCCAC CTCCCACCCCCATGTCCCTGCCTGTCCCCACCTCGCACCCCCATGTCCCT GCCTGTCCCCACCTCGCACCCCCATGTCCCTGCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18947.hp2 NA18968.hp1 others(2): Show NA18939.hp2 NA18947.hp2 NA18968.hp1 NA18995.hp1 NA19077.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0282 a0002c0003t0002g0283 a0002c0003t0002g0298 others(2): Show a0002c0003t0002g0282 a0002c0003t0002g0283 a0002c0003t0002g0298 a0002c0003t0002g0335 a0002c0003t0002g0338	5	414	0.0121	285	c.-68 others(294): Show c.-689_-688insCAGGCAGGGACATGGGGGTGCGAGGTGGGGACAGGC AGGGACATGGGGGTGCGAGGTGGGGACAGGCAGGGACATGGGGGTGGGAG GTGGGGACAGGCAGGGACATAGGGGGTGGGAGGTGGGGACAGGCAGGGAC ATAGGGGGTGGGAGGTGGGCACATTCAGGGAGATGGGGGTGTGAGGTGGA GACAGGCAGGGACATGGGGAGTCTGAGGTGGGGACAGGCAGGGAGATGGG GGGTGTGAGTTGGGGACAGGCAGGGAGATGGGGGGGTGCGAGGTGGGGA	CTSH	ENSG00000103811.18	transcript	ENST00000220166.10	protein_coding		624		chr15	TogoVar
DCLK1_chr13_35763652_36136382	35958131	A A	ACTGTAAC others(278): Show ACTGTAACCATCACCACCACCACTGCTATAACCACCACCACCACCACTAT AACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCATTA TAACCATCACCACCACCACTATAACCACCATCATCATCACCACCACTACC ACTACTGTAACCATCACCACCATCACCACTATAACCACCACTACCACCAC CACCACTATAACCACCACCACCACCACTATAACCACCATCATCATCACCA CCACTACCACTACTGTAACCATCACCACCACCACTG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18990.hp1 NA19005.hp1 NA18945.hp1 NA18990.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0003 a0001c0001t0001 a0001c0001t0003 a0001c0003t0003	a0001c0001t0001g0052 a0001c0001t0003g0053 a0001c0003t0003g0033 a0001c0001t0001g0052 a0001c0001t0003g0053 a0001c0003t0003g0033	3	230	0.0130	285	c.724 others(304): Show c.724-10675_724-10674insCAGTGGTGGTGGTGATGGTTACAGTA GTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGGTGGT TATAGTGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGG TTACAGTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTG GTGATGGTTATAATGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGT GGTGATGGTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGGTGGTGGTGA TGGTTACAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DIP2C_chr10_269201_694668	455382	A A	ACCGTGAG others(278): Show ACCGTGAGGAGTAAATGAGATGAAAACACTCTGCAGTGAGTCCCTGCCTG AGGGGAGACCGTGAGGAGCAAATGAGATGAAAACACTCTGCAGTGAGTCC CTGCCTGAGGGGAGGCCGTGAGGAGCAAATGAGATGAAAACACTCTGCAG TGAGTCCCTGCCTGAGGGGAGGCCGTGAGGAGCAAATGAGATGAAAACAC TCTGCAGTGAGTCCCTGCCTGAGGGGAGACCGTGAGGAGCAAATGAGATG AAAACACTCTGCAGTGAGTCCCTGCCTGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0009 a0001c0004t0001g0009	1	88	0.0114	285	c.269 others(304): Show c.269-14387_269-14386insCCTCCCCTCAGGCAGGGACTCACTGC AGAGTGTTTTCATCTCATTTGCTCCTCACGGTCTCCCCTCAGGCAGGGAC TCACTGCAGAGTGTTTTCATCTCATTTGCTCCTCACGGCCTCCCCTCAGG CAGGGACTCACTGCAGAGTGTTTTCATCTCATTTGCTCCTCACGGCCTCC CCTCAGGCAGGGACTCACTGCAGAGTGTTTTCATCTCATTTGCTCCTCAC GGTCTCCCCTCAGGCAGGGACTCACTGCAGAGTGTTTTCATCTCATTTAC TCCTCACGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	3/36			chr10	TogoVar
DIP2C_chr10_269201_694668	455393	T T	TAAATGAG others(278): Show TAAATGAGATGAAAACACTCTGCAGTGAGTCCCTGCCTGAGGGGAGACCG TGAGGAGCAAATGAGATGAAAACACTCTGCAGTGAGTCCCTGCCTGAGGG GAGGCCGTGAGGAGCAAATGAGATGAAAACACTCTGCAGTGAGTCCCTGC CTGAGGGGAGGCCGTGAGGAGCAAATGAGATGAAAACACTCTGCAGTGAG TCCCTGCCTGAGGGGAGACCGTGAGGAGCAAATGAGATGAAAACACTCTG CAGTGAGTCCCTGCCTGAGGGGAGGCCGTGAGGAGC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	88	0.0114	285	c.269 others(304): Show c.269-14398_269-14397insGCTCCTCACGGCCTCCCCTCAGGCAG GGACTCACTGCAGAGTGTTTTCATCTCATTTGCTCCTCACGGTCTCCCCT CAGGCAGGGACTCACTGCAGAGTGTTTTCATCTCATTTGCTCCTCACGGC CTCCCCTCAGGCAGGGACTCACTGCAGAGTGTTTTCATCTCATTTGCTCC TCACGGCCTCCCCTCAGGCAGGGACTCACTGCAGAGTGTTTTCATCTCAT TTGCTCCTCACGGTCTCCCCTCAGGCAGGGACTCACTGCAGAGTGTTTTC ATCTCATTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	3/36			chr10	TogoVar
DIP2C_chr10_269201_694668	455393	T T	TAAATGAG others(278): Show TAAATGAGATGAAAACACTCTGCAGTGAGTCCCTGCCTGAGGGGAGGCCG TGAGGAGCAAATGAGATGAAAACACTCTGCGGTGAGTCCCTGCCTGAGGG GAGACCGTGAGGAGCAAATGAGATGAAAACACTCTGCAGTGAGTCCCTGC CTGAGGGGAGACCGTGAGGAATAAATGAGATGAAAACACTCTGCAGTGAG TCCCTGCCTGAGGGGAGACCGTGAGGAATAAATGAGATGAAAACACTCTG CAGTGAGTCCCTGCCTGAGGGGAGGCCGTGAGGAGC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0006 a0001c0020t0006	a0001c0020t0006g0014 a0001c0020t0006g0014	1	88	0.0114	285	c.269 others(304): Show c.269-14398_269-14397insGCTCCTCACGGCCTCCCCTCAGGCAG GGACTCACTGCAGAGTGTTTTCATCTCATTTATTCCTCACGGTCTCCCCT CAGGCAGGGACTCACTGCAGAGTGTTTTCATCTCATTTATTCCTCACGGT CTCCCCTCAGGCAGGGACTCACTGCAGAGTGTTTTCATCTCATTTGCTCC TCACGGTCTCCCCTCAGGCAGGGACTCACCGCAGAGTGTTTTCATCTCAT TTGCTCCTCACGGCCTCCCCTCAGGCAGGGACTCACTGCAGAGTGTTTTC ATCTCATTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	3/36			chr10	TogoVar
DIP2C_chr10_269201_694668	455507	C C	CAAATGAG others(278): Show CAAATGAGATGAAAACACTCTGCAGTGAGTCCCTGCCTGAGGGGAGGCCG TGAGGAGTAAATGAGATGAAAACACTCTGCAGTGAGTCCCTGCCTGAGGG GAGACTGTGAGGAGTAAATGAGATGAAAACACTCTGCAGTGAGTCCCTGC CTGAGGGGAGACCGTGAGGAGTAAATGAGATGAAAACACTCTGCAGTGAG TCCCTGCCTGAGGGGAGACCGTGAGGAGTAAATGAGATGAAAACACTCTG CAGTGAGTCCCTGCCTGAGGGGAGACCGTGAGGAGT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0047 a0001c0002t0003g0047	1	88	0.0114	285	c.269 others(304): Show c.269-14512_269-14511insACTCCTCACGGTCTCCCCTCAGGCAG GGACTCACTGCAGAGTGTTTTCATCTCATTTACTCCTCACGGTCTCCCCT CAGGCAGGGACTCACTGCAGAGTGTTTTCATCTCATTTACTCCTCACGGT CTCCCCTCAGGCAGGGACTCACTGCAGAGTGTTTTCATCTCATTTACTCC TCACAGTCTCCCCTCAGGCAGGGACTCACTGCAGAGTGTTTTCATCTCAT TTACTCCTCACGGCCTCCCCTCAGGCAGGGACTCACTGCAGAGTGTTTTC ATCTCATTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	3/36			chr10	TogoVar
DIP2C_chr10_269201_694668	455587	A A	AGTGAGTC others(278): Show AGTGAGTCCCTGCCTGAGGGGAGACTGTGAGGAGTAAATGAGATGAAAAC ACTCTGCAGTGAGTCCCTGCCTGAGGGGAGACCGTGAGGAGTAAATGAGA TGAAAACACTCTGCAGTGAGTCCCTGCCTGAGGGGAGACCGTGAGGAGTA AATGAGATGAAAACACTCTGCAGTGAGTCCCTGCCTGAGGGGAGGCCGTG AGGAGCAAATGAGATGAAAACACTCTGCGGTGAGTCCCTGCCTGAGGGGA GGCCGTGAGGAGCAAATGAGATGAAAACACTCTGCG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0069 a0001c0003t0002g0069	1	88	0.0114	285	c.269 others(304): Show c.269-14592_269-14591insCGCAGAGTGTTTTCATCTCATTTGCT CCTCACGGCCTCCCCTCAGGCAGGGACTCACCGCAGAGTGTTTTCATCTC ATTTGCTCCTCACGGCCTCCCCTCAGGCAGGGACTCACTGCAGAGTGTTT TCATCTCATTTACTCCTCACGGTCTCCCCTCAGGCAGGGACTCACTGCAG AGTGTTTTCATCTCATTTACTCCTCACGGTCTCCCCTCAGGCAGGGACTC ACTGCAGAGTGTTTTCATCTCATTTACTCCTCACAGTCTCCCCTCAGGCA GGGACTCAC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	3/36			chr10	TogoVar
DIP2C_chr10_269201_694668	455791	G G	GTAAATGA others(278): Show GTAAATGAGATGAAAACACTCTGCAGTGAGTCCCTGCCTGAGGGGAGGCC GTGAGGAGCAAATGAGATGAAAACACTCTGCAGTGAGTCCCTGCCTGAGG GGAGACCGTGAGGAGTAAATGAGATGAAAACACTCTGCAGTGAGTCCCTG CCTGAGGGGAGACTGTGAGGAGTAAATGAGATGAAAACACTCTGCAGTGA GTCCCTGCCTGAGGGGAGGCCGTGAGGAGTAAATGAGATGAAAACACTCT GCAGTGAGTCCCTGCCTGAGGGGAAACTGTGAGGAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0008 a0001c0021t0008	a0001c0021t0008g0074 a0001c0021t0008g0074	1	88	0.0114	285	c.269 others(304): Show c.269-14796_269-14795insTTCCTCACAGTTTCCCCTCAGGCAGG GACTCACTGCAGAGTGTTTTCATCTCATTTACTCCTCACGGCCTCCCCTC AGGCAGGGACTCACTGCAGAGTGTTTTCATCTCATTTACTCCTCACAGTC TCCCCTCAGGCAGGGACTCACTGCAGAGTGTTTTCATCTCATTTACTCCT CACGGTCTCCCCTCAGGCAGGGACTCACTGCAGAGTGTTTTCATCTCATT TGCTCCTCACGGCCTCCCCTCAGGCAGGGACTCACTGCAGAGTGTTTTCA TCTCATTTA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	3/36			chr10	TogoVar
DISP3_chr1_11474155_11542551	11522759	G G	GAGCCCAG others(278): Show GAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCC AGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAG AGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCA GCCAGGACCCAGCCAAGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGG ACCCAGCCAGAGCCCAGCCAAGACCCAGCCAGGACCCAGCCAGAGCCCAG CCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0023 a0023	a0023c0060 a0023c0060	a0023c0060t0007 a0023c0060t0007	a0023c0060t0007g0300 a0023c0060t0007g0300	1	358	0.0028	285	c.236 others(304): Show c.2363-1183_2363-1182insAGCCCAGCCAGAGCCCAGCCAGGACC CAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCA GAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCC AGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAAGACCCAGCCAG GACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAAGACCCA GCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGG GCCCAGCGA	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20			chr1	TogoVar
DLGAP1_chr18_3491032_4460307	3741141	C C	CCATCACC others(278): Show CCATCACCACCACCATCACCACCACATCACCACCACCACCCCACCACCAC CAAATCACCACCACCACCACCACATCACCATCACCACCACCACCACCACC ACATCACATCACCACCACCACCACCACCATCACCATCACCACCACCACCA CATCACCATCACCACCACCACCATCACCATCACCACCACAATCACCACCA CCACATCACCATCACCACCACCACCACCACCACCATCACCATCACCACCA CCACCATCACCATCACCACCACCATCACCACCACCA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	80	0.0125	285	c.135 others(304): Show c.1350+1193_1350+1194insTGGTGGTGGTGATGGTGGTGGTGATG GTGATGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGAT GGTGATGTGGTGGTGGTGATTGTGGTGGTGATGGTGATGGTGGTGGTGGT GATGGTGATGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGT GATGTGATGTGGTGGTGGTGGTGGTGGTGATGGTGATGTGGTGGTGGTGG TGGTGATTTGGTGGTGGTGGGGTGGTGGTGGTGATGTGGTGGTGATGGTG GTGGTGATG	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	6/12			chr18	TogoVar
DOCK8_chr9_209865_470255	400509	C C	CCACCACC others(278): Show CCACCACCTCCACCATCACCACCACCTCCACCACCACCACCTCCACCACC AGCACTTCCACCATCACCACCTCCTTCACCATCACCATCACCACCACCTC CACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCA CCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACC ACCACCTCCACCATCACCACCACCTCCACCACCACCACCTCCACCACCAG CACTTCCACCATCACCACCTCCTTCACCATCACCAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01975.hp2 HG00609.hp2 HG01975.hp2	a0002 a0006 a0002 a0006	a0002c0007 a0006c0025 a0002c0007 a0006c0025	a0002c0007t0001 a0006c0025t0001 a0002c0007t0001 a0006c0025t0001	a0002c0007t0001g0194 a0006c0025t0001g0186 a0002c0007t0001g0194 a0006c0025t0001g0186	2	256	0.0078	285	c.323 others(304): Show c.3234+1257_3234+1258insTCCACCATCACCACCACCTCCACCAC CACCACCTCCACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCA CCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATC TTCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCAC CACCTCCACCACCACCACCACCTCCACCATCACCACCACCTCCACCACCA CCACCTCCACCACCAGCACTTCCACCATCACCACCTCCTTCACCATCACC ATCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400849	C C	CACCTCCA others(278): Show CACCTCCACCACCAGCACTTCCACCATCACCACCACCTCCACCATCACCA CCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACC ACCACCACCTCCACCATCACCACCACCTCCACCACCACCACCTCCACCAC CAGCACTTCCACCATCACCACCTCCACCACCTCCACCACCACCGTCACCA CCTTCTCCACCACCACCATCTTCACCACCACCACCATCGCCCTGCCCACC TCTAGCAATATTATCACCTTTCCTATCACCTCCAAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0006 a0006	a0006c0028 a0006c0028	a0006c0028t0001 a0006c0028t0001	a0006c0028t0001g0211 a0006c0028t0001g0211	1	256	0.0039	285	c.323 others(304): Show c.3234+1591_3234+1592insCCTCCACCACCAGCACTTCCACCATC ACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTTCAC CATCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCT CCACCACCACCACCTCCACCACCAGCACTTCCACCATCACCACCTCCACC ACCTCCACCACCACCGTCACCACCTTCTCCACCACCACCATCTTCACCAC CACCACCATCGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCA CCTCCAATA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89634658	C C	CCCCTTCC others(278): Show CCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCC TTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTT CCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTC CCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTC CTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0201 a0002c0002t0001g0201	1	250	0.0040	285	c.105 others(302): Show c.105-1232_105-1231insTTCCTTCTCCTTTCCCTTCCTTCCCTTT CCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCC TTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCC CTTTCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPP7_chr9_137105546_137119733	137111259	T T	TAGAGGTA others(278): Show TAGAGGTAGGCGAGGGGCCTGTGATCCCAGCACTCTGGGGGTGAGACGGG AGCAGGGTAGGGGCAGGCGAGGGGCCTGTGATCCCAGCACTCTGGGAGTA AGACAGGAGCAGGGTAGGGGCAGGTGAGGGGCCTGTGATCCCAGCACTCT GGGGGTGAGACGGGAGCAGGGTAGAGGTAGGCGAGGGGCCTGTGATCCCA GCACTCTGGGGGTGAGACGGGAGCAGGGTAGGGGCAGGTGAGGGGCCTGT GATCCCAGCACTCTGAGGGTGAGACGGGAGCAGGGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0141 a0001c0025t0001g0141	1	454	0.0022	285	c.127 others(302): Show c.1273-310_1273-309insTCCCTGCTCCCGTCTCACCCTCAGAGTG CTGGGATCACAGGCCCCTCACCTGCCCCTACCCTGCTCCCGTCTCACCCC CAGAGTGCTGGGATCACAGGCCCCTCGCCTACCTCTACCCTGCTCCCGTC TCACCCCCAGAGTGCTGGGATCACAGGCCCCTCACCTGCCCCTACCCTGC TCCTGTCTTACTCCCAGAGTGCTGGGATCACAGGCCCCTCGCCTGCCCCT ACCCTGCTCCCGTCTCACCCCCAGAGTGCTGGGATCACAGGCCCCTCGCC TACCTCT	DPP7	ENSG00000176978.15	transcript	ENST00000371579.7	protein_coding	11/12			chr9	TogoVar
DPP7_chr9_137105546_137119733	137111265	C C	CAGGCGAG others(278): Show CAGGCGAGGGGCCTGTGATCCCAGCACTCTGAGGGTGAGACGGCAGCAGG GTAGAGGTAGGCGAGGGGCCTGTGATCCCAGCACTCTGGGGGTGAGACGG GAGCAGGGTAGGGGCAGGCGAGGGGCCTGTGATCCCAGCACTCTGGGGGT GAGACGGGAGCAGGGAAGGGGCAGGTGTGAGGCCTGTGATCCCAGCACTC TGAGGGTGAGACGGGAGCAGGGTAGGGGCAGGCGAGGGGCCTGTGATCCC AGCACTCTGAGGGTGAGACGGCAGCAGGGTAGAGGT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02083.hp1 HG04228.hp2 HG02015.hp1 HG02083.hp1 HG04228.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0020 a0001c0001 a0012c0020	a0001c0001t0001 a0012c0020t0001 a0001c0001t0001 a0012c0020t0001	a0001c0001t0001g0033 a0012c0020t0001g0104 a0001c0001t0001g0033 a0012c0020t0001g0104	3	454	0.0066	285	c.127 others(302): Show c.1273-316_1273-315insACCTCTACCCTGCTGCCGTCTCACCCTC AGAGTGCTGGGATCACAGGCCCCTCGCCTGCCCCTACCCTGCTCCCGTCT CACCCTCAGAGTGCTGGGATCACAGGCCTCACACCTGCCCCTTCCCTGCT CCCGTCTCACCCCCAGAGTGCTGGGATCACAGGCCCCTCGCCTGCCCCTA CCCTGCTCCCGTCTCACCCCCAGAGTGCTGGGATCACAGGCCCCTCGCCT ACCTCTACCCTGCTGCCGTCTCACCCTCAGAGTGCTGGGATCACAGGCCC CTCGCCT	DPP7	ENSG00000176978.15	transcript	ENST00000371579.7	protein_coding	11/12			chr9	TogoVar

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