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
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(221): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTTCCCTCCCCTT CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCCAC CACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCC CTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0174 a0001c0001t0003g0174	1	410	0.0024	228	c.-22 others(239): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGG GAGGGAAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(221): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCCAC CACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCC CTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	410	0.0024	228	c.-22 others(239): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(221): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCCAC CACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCC CTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01928.hp1 HG00741.hp2 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0003 a0001c0001t0001g0009	2	410	0.0049	228	c.-22 others(239): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG AAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(221): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCCAC CACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCC CTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0180 a0001c0001t0003g0180	1	410	0.0024	228	c.-22 others(239): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGG AAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(221): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCCAC CACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCC CTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	410	0.0024	228	c.-22 others(239): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGG AAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC6_chr10_59783747_59911556	59882003	T T	TGGGGAGA others(221): Show TGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGCGG GAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAG GAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAA GGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAA AGCCGCGGGGAGAAGGAAAGGAAAGCCGC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0029 a0002c0004t0001g0029	1	288	0.0035	228	c.303 others(247): Show c.303+24118_303+24119insGCGGCTTTCCTTTCCTTCTCCCCGCG GCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTT TCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCT TTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTT CTCCCGCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCC CC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCN4_chr8_133186039_133236690	133213962	C C	CTATATAT others(221): Show CTATATATACACTATATATAGTTATATATACTATATATACACTATATATA GTATATATACTATATATAACTATATATAGTGTATATATACTATATATAAC TATATATAGTATATATACTATATATACACTATATATAGTATATATACTAT ATATACACTATATATAGTATATATACTATATATACACTATATATAGTAGT TATATATACTATATATACACTATATATAG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0373 a0008c0013t0001g0373	1	396	0.0025	228	c.349 others(243): Show c.349+840_349+841insTATATATACTATATATACACTATATATAGT ATATATACTATATATAACTATATATAGTGTATATATACTATATATAACTA TATATAGTATATATACTATATATACACTATATATAGTATATATACTATAT ATACACTATATATAGTATATATACTATATATACACTATATATAGTAGTTA TATATACTATATATACACTATATATAGTATATATACACTATATATAGT	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATA others(221): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA TATGTGTGTGTATACGCATACACACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG02015.hp1 HG00408.hp1 HG02015.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0007 a0002c0002t0002 a0002c0002t0007	a0002c0002t0002g0011 a0002c0002t0007g0007 a0002c0002t0002g0011 a0002c0002t0007g0007	2	442	0.0045	228	c.27 others(239): Show c.2752_*2753insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACATATGTGTGTGTATACGCATACACACACAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATA others(221): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA TATGTGTGTGTATACGCATACACACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0007 a0002c0002t0002g0007	1	442	0.0023	228	c.27 others(239): Show c.2752_*2753insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACATATGTGTGTGTATACGCATACACACATAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATA others(221): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACATA TATGTGTGTGTATACGCATACACACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG03239.hp1 HG01070.hp2 HG03239.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0007 a0002c0002t0002 a0002c0002t0007	a0002c0002t0002g0007 a0002c0002t0007g0064 a0002c0002t0002g0007 a0002c0002t0007g0064	2	442	0.0045	228	c.27 others(239): Show c.2752_*2753insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACATATATGTGTGTGTATACGCATACACACATAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATA others(221): Show CACATATATGTGTGTATACGTATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA TATGTGTGTGTATACGCATACACACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0007 a0002c0002t0002g0007	1	442	0.0023	228	c.27 others(239): Show c.2752_*2753insACATATATGTGTGTATACGTATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACATATGTGTGTGTATACGCATACACACACAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(221): Show TATATACACAAGTGTGTATATACGTATACACACATATATGTGTGTGTATA CGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTG TGTATACGCATACACACACATATATGTGTGTGTATACGCATACACACACA TATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTATACGCA TACACACACATATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	442	0.0023	228	c.27 others(239): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATACACACAT ATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATAC ACACATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTAT ACGCATACACACACATATATGTGTGTGTATACGCATACACACACATATAT GTGTGTGTATACGCATACACACACATATATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CDC16_chr13_114229897_114277723	114231167	T T	GGGGTGGA others(221): Show GGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTG GATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAG GTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTG GTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGAGGT GGGGCTGGTGGGAGGTGGTTGGATCGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG02300.hp2 HG00099.hp2 HG00323.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0035 a0001c0001t0001g0006 a0001c0001t0001g0035	3	380	0.0079	228	c.-39 others(238): Show c.-3918delTinsGGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTG GTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGT GGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGC TGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCA TTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGC	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3730		chr13	TogoVar
CDC16_chr13_114229897_114277723	114231192	A A	AGGTGGGG others(221): Show AGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTG CTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTG CCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGG TGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATC GTGCGGGTGGAGTGCCCATTGCTGCTGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	380	0.0026	228	c.-38 others(239): Show c.-3893_-3892insGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGG GTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGAT CGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTG GTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTG GGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGC	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3704		chr13	TogoVar
CDC16_chr13_114229897_114277723	114231192	A A	CGGTGGGG others(221): Show CGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTG CTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTG CCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGG TGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATC GTGCGGGTGGAGTGCCCATTGCTGCTGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	380	0.0026	228	c.-38 others(239): Show c.-3894_-3893insCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGG GGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGA TCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGT GGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGT GGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGG	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3705		chr13	TogoVar
CDC16_chr13_114229897_114277723	114231224	C C	CGGGTGGA others(221): Show CGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTG GATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAG GTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTG GTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGT GGGGCTGGTGGGAGGTGGTTGGATCGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	380	0.0026	228	c.-38 others(239): Show c.-3861_-3860insGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCT GGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGG TGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTG CTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCC ATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGG	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3672		chr13	TogoVar
CDC16_chr13_114229897_114277723	114231281	G G	GGGGTGGA others(221): Show GGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTG GATCGTGCGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAG GTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTG GTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGAGGT GGGGCTGGTGGGAGGTGGTTGGATCGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG02056.hp2 others(14): Show HG00544.hp1 HG00609.hp2 HG02056.hp2 HG02083.hp2 HG02129.hp1 HG02155.hp2 HG03490.hp2 HG03492.hp1 NA18942.hp1 NA18953.hp1 NA18967.hp2 NA18990.hp2 NA19009.hp2 NA19058.hp2 NA19064.hp1 NA19077.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0082 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0082 a0001c0001t0001g0097 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0129	17	380	0.0447	228	c.-38 others(239): Show c.-3804_-3803insGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCT GGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGAGG TGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTG CTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCC ATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGC	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3615		chr13	TogoVar
CDC16_chr13_114229897_114277723	114231281	G G	GGGGTGGA others(221): Show GGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTG GATCGTGTGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAG GTGGTTGGATCGTGTGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTG GTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGT GGGGCTGGTGGGAGGTGGTTGGATCGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	380	0.0026	228	c.-38 others(239): Show c.-3804_-3803insGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCT GGTGGGAGGTGGTTGGATCGTGTGGGTGGAGTGCCCATTGCTGCTGGCGG TGGGGCTGGTGGGAGGTGGTTGGATCGTGTGGGTGGAGTGCCCATTGCTG CTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCC ATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGC	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3615		chr13	TogoVar
CDC16_chr13_114229897_114277723	114231335	G G	GTGCGGGT others(221): Show GTGCGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGG TTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGG GAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGG CTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGC GGTGGGGCTGGTGGGAGGTGGTTGGATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	380	0.0026	228	c.-37 others(239): Show c.-3750_-3749insTGCGGGTGGAGTGCCCATTGCTGCTGGAGGTGGG GCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGG CGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTG CTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTG CCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCA	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3561		chr13	TogoVar
CDC16_chr13_114229897_114277723	114231420	C C	CGGTGGGG others(221): Show CGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTG CTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTG CCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGG TGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATC GTGCGGGTGGAGTGCCCATTGCTGCTGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0067 a0001c0002t0002g0067	1	380	0.0026	228	c.-36 others(239): Show c.-3665_-3664insGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGG GTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGAT CGTGCGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTG GTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTG GGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGA	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3476		chr13	TogoVar
CDC16_chr13_114229897_114277723	114231420	C C	CGGTGGGG others(221): Show CGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTG CTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTG CCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGGG TGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATC GTGGGGGTGGAGTGCCCATTGCTGCTGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	380	0.0026	228	c.-36 others(239): Show c.-3665_-3664insGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGGGG GTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGAT CGTGGGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTG GTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTG GGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGA	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3476		chr13	TogoVar
CDC16_chr13_114229897_114277723	114231509	C C	CGGGTGGA others(221): Show CGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTGGTGGGAGGTGGTTG GATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAG GTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTG GTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGCGGT GGGGCTGGTGGGAGGTGGTTGGATCGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	380	0.0026	228	c.-35 others(239): Show c.-3576_-3575insGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCT GGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGG TGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTG CTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCC ATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGG	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3387		chr13	TogoVar
CDC16_chr13_114229897_114277723	114231509	C C	CGGGTGGA others(221): Show CGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTG GATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCTGGTGGGAG GTGGTTGGATCGTGTGGGTGGAGTGCCCATTGCTGCTGGAGGTGGGGCTG GTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCCATTGCTGCTGGCGGT GGGGCTGGTGGGAGGTGGTTGGATCGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	380	0.0026	228	c.-35 others(239): Show c.-3576_-3575insGGGTGGAGTGCCCATTGCTGCTGGCGGTGGGGCT GGTGGGAGGTGGTTGGATCGTGGGGGTGGAGTGCCCATTGCTGCTGGCGG TGGGGCTGGTGGGAGGTGGTTGGATCGTGTGGGTGGAGTGCCCATTGCTG CTGGAGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGCGGGTGGAGTGCCC ATTGCTGCTGGCGGTGGGGCTGGTGGGAGGTGGTTGGATCGTGG	CDC16	ENSG00000130177.16	transcript	ENST00000356221.8	protein_coding		3387		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881962	C C	CTATATAG others(221): Show CTATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 NA18999.hp2 HG01106.hp1 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0259 a0001c0002t0001g0027 a0001c0002t0001g0259	2	440	0.0046	228	c.12 others(239): Show c.1214_*1215insTATATAGATGTATCTATATATAGATGTATCTATA TATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATA TAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATA GATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATATAGATGTATCTATATATAGATGTATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		316		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881980	C C	CTATATAG others(221): Show CTATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0265 a0001c0002t0001g0265	1	440	0.0023	228	c.11 others(239): Show c.1196_*1197insTATATAGATGTATCTATATATAGATGTATCTATA TATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATA TAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATA GATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATATAGATGTATCTATATATAGATGTATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		298		chr13	TogoVar
CEP112_chr17_65630537_66197133	65970817	T T	TATATTGC others(221): Show TATATTGCATGCATGGCACATTTCTATCGTATGCATGTGGCATATTACAT GCATGTATAACAAATGTATATCACGTACATGTACATTACATTTGCATCAC ATATATCACGTGCATGTATCATACATACATATCACATGAATATCGCATAC ATGTAAAATGTGTGCACATCATACATGTCGCATGCACGTTGCGTGTATTT TACATTCGTGCCACATGTATAATGCATGC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01346.hp2 HG02027.hp2 others(11): Show HG01109.hp2 HG01346.hp2 HG02027.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02602.hp2 HG03579.hp2 HG03688.hp2 HG03831.hp2 NA18985.hp2 NA19240.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0003 a0002c0001 a0004c0006 others(1): Show a0001c0003 a0002c0001 a0004c0006 a0006c0010	a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 others(5): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0007 a0002c0001t0003 a0004c0006t0001 a0004c0006t0002 a0006c0010t0001	a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0009 others(11): Show a0001c0003t0001g0006 a0001c0003t0001g0007 a0001c0003t0001g0009 a0001c0003t0001g0033 a0001c0003t0001g0062 a0001c0003t0001g0074 a0001c0003t0002g0109 a0001c0003t0002g0112 a0001c0003t0006g0003 a0001c0003t0007g0004 a0002c0001t0003g0019 a0004c0006t0001g0022 a0004c0006t0002g0110 a0006c0010t0001g0010	14	112	0.1250	228	c.173 others(247): Show c.1737-9220_1737-9219insGCATGCATTATACATGTGGCACGAAT GTAAAATACACGCAACGTGCATGCGACATGTATGATGTGCACACATTTTA CATGTATGCGATATTCATGTGATATGTATGTATGATACATGCACGTGATA TATGTGATGCAAATGTAATGTACATGTACGTGATATACATTTGTTATACA TGCATGTAATATGCCACATGCATACGATAGAAATGTGCCATGCATGCAAT AT	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	17/26			chr17	TogoVar
CHST5_chr16_75523530_75541108	75526189	G G	GTGTGCAT others(221): Show GTGTGCATGTGTGTGTGCATGTGAGTGTGCATGTGAGTGTGCATGTGTGT GTGCATGTGAGTGTGCATGTGTGTGTGCATGTGAGTGTGCATGTGAGTGT GCATGTGTGTGTGCATGTGAGTGTGCATGTGAGTGTGCATGTGAGTGTGC ATGTGAGTGTGCATGTGAGTGTGCATGTGTGTGTGCATGTGAGTGTGCAT GTGAGTGTGCATGTGTGTGTGCATGTGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03540.hp2 HG03098.hp2 HG03540.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0006 a0001c0003 a0004c0006	a0001c0003t0005 a0004c0006t0026 a0001c0003t0005 a0004c0006t0026	a0001c0003t0005g0011 a0004c0006t0026g0062 a0001c0003t0005g0011 a0004c0006t0026g0062	2	394	0.0051	228	c.29 others(239): Show c.2959_*2960insGTCACATGCACACACACATGCACACTCACATGCA CACTCACATGCACACACACATGCACACTCACATGCACACTCACATGCACA CTCACATGCACACTCACATGCACACTCACATGCACACACACATGCACACT CACATGCACACTCACATGCACACACACATGCACACTCACATGCACACACA CATGCACACTCACATGCACACTCACATGCACACACACATGCACA	CHST5	ENSG00000135702.15	transcript	ENST00000336257.8	protein_coding		2340		chr16	TogoVar
CLDN8_chr21_30209006_30221097	30210287	A A	ATATATAT others(221): Show ATATATATATATATATATATATATATATATATATAGTCTCCCTAATTCTA ATTCAAGGTACATATATATATATATATATATATATATAGTCTCCCTAATT CTAATTCAAGGTACATATATATATATATATATATATATATATAGTCTCCC TAATTCTAATTCAAGGTACATATATATATATATATATATATATATAGTCT CCCTAATTCTAATTCAAGGTACGTATGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	466	0.0022	228	c.49 others(239): Show c.4960_*4961insCACATACGTACCTTGAATTAGAATTAGGGAGACT ATATATATATATATATATATATATATGTACCTTGAATTAGAATTAGGGAG ACTATATATATATATATATATATATATATATGTACCTTGAATTAGAATTA GGGAGACTATATATATATATATATATATATATATGTACCTTGAATTAGAA TTAGGGAGACTATATATATATATATATATATATATATATATATA	CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding		3718		chr21	TogoVar
CLSTN3_chr12_7125371_7163945	7148156	A A	AAAAGAAA others(221): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	394	0.0025	228	c.184 others(245): Show c.1848-757_1848-756insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	CLSTN3	ENSG00000139182.15	transcript	ENST00000266546.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNOT3_chr19_54132762_54160681	54133762	C C	CCTCTCTC others(221): Show CCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCT CCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCAC CTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCT CCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCTTCCTCCCTCTCCACCTCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	223	0.0045	228	c.-42 others(239): Show c.-4282_-4281insCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTC TCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTC CCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCC CCTCTCTCTCTTCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCT CTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCT	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3999		chr19	TogoVar
CNR2_chr1_23865515_23918362	23899941	G G	GAAAGAAA others(221): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAAGAAAGAAAGAAAGAAGAAAGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGAAGGAAGGAAGGAAGGAAGGAAAGGAAGGAAAGAAGGAAAGA AGGAAGAAAGAAAGAAGAAAGAAGAGAAAGAAAAGAAAAAAAGAAAGAAA AGAAAGAAAGAGGGAAGGAAGGAAAGAGA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	268	0.0037	228	c.-46 others(247): Show c.-46+13304_-46+13305insTCTCTTTCCTTCCTTCCCTCTTTCTT TCTTTTCTTTCTTTTTTTCTTTTCTTTCTCTTCTTTCTTCTTTCTTTCTT CCTTCTTTCCTTCTTTCCTTCCTTTCCTTCCTTCCTTCCTTCCTTCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTCTTTCTTTCTTTCTTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TT	CNR2	ENSG00000188822.8	transcript	ENST00000374472.5	protein_coding	1/1			chr1	TogoVar
COL26A1_chr7_101357875_101564024	101359188	C C	CCCTCCCG others(221): Show CCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCT CCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACTCCCCCACCT CCCTCCTGGACGGGGTGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCTGGGCAGAGGCGCCCCTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0030 a0001c0002t0016g0030	1	174	0.0058	228	c.-38 others(239): Show c.-3845_-3844insCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGC TGACCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGG CTGACTCCCCCACCTCCCTCCTGGACGGGGTGGCTGGCCAGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCA	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding		3686		chr7	TogoVar
COL4A3_chr2_227159624_227319792	227203112	T T	TATATATA others(221): Show TATATATACATATATGTGTATATATACATATATGTGTATATATGTGTATA TATACATATATACATATATGTGTATATATACGTATATATACATATATGTG TATATATACGTATATGTGTATATATGTGTATATATACATATATGTGTATA TATACATATATGTGTATATATGTGTATATATACATATATGTGTATATATA CATATATGTGTATATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0004 a0004c0003t0004	a0004c0003t0004g0293 a0004c0003t0004g0293	1	344	0.0029	228	c.88- others(245): Show c.88-34850_88-34849insACATATATGTGTATATATACATATATGT GTATATATGTGTATATATACATATATACATATATGTGTATATATACGTAT ATATACATATATGTGTATATATACGTATATGTGTATATATGTGTATATAT ACATATATGTGTATATATACATATATGTGTATATATGTGTATATATACAT ATATGTGTATATATACATATATGTGTATATATGTGTATATATACATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL6A1_chr21_45976770_46010048	45999917	G G	GGGGACAT others(221): Show GGGGACATGTGAGGATCATGGGAAGACGTGAGGATCATAGGGGGACGTGT GAGGATCATGGAGGGCATGTGAGGATCATGGGGGACATGTGAGGATCATG GGAAGACGTGAGGATCATGGGGGGGACGTGTGAGGATCATGGGGGGGACC CGTGAGGGTCATGGGGGGATGTGTGAGGATCATGGGGGGGGAACGTGTGA GGATCATGGGGGGGATGTGTGAGGATCAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01167.hp1 HG01255.hp1 others(17): Show HG00423.hp2 HG01167.hp1 HG01255.hp1 HG01361.hp1 HG01981.hp2 HG02015.hp1 HG02559.hp1 HG03017.hp1 HG03017.hp2 HG03239.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA19067.hp2 NA19088.hp2 homoSapiens_chm13v2.hp1	a0001 a0011 a0017 others(1): Show a0001 a0011 a0017 a0018	a0001c0001 a0001c0003 a0001c0017 others(5): Show a0001c0001 a0001c0003 a0001c0017 a0001c0022 a0001c0024 a0011c0019 a0017c0029 a0018c0031	a0001c0001t0003 a0001c0003t0003 a0001c0003t0006 others(6): Show a0001c0001t0003 a0001c0003t0003 a0001c0003t0006 a0001c0017t0003 a0001c0022t0007 a0001c0024t0003 a0011c0019t0003 a0017c0029t0003 a0018c0031t0013	a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0020 others(17): Show a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0020 a0001c0003t0003g0015 a0001c0003t0003g0019 a0001c0003t0003g0026 a0001c0003t0003g0033 a0001c0003t0003g0034 a0001c0003t0003g0036 a0001c0003t0003g0124 a0001c0003t0006g0005 a0001c0003t0006g0024 a0001c0003t0006g0031 a0001c0003t0006g0059 a0001c0017t0003g0016 a0001c0022t0007g0046 a0001c0024t0003g0030 a0011c0019t0003g0114 a0017c0029t0003g0022 a0018c0031t0013g0029	20	128	0.1563	228	c.177 others(245): Show c.1776+246_1776+247insAAGACGTGAGGATCATAGGGGGACGTGT GAGGATCATGGAGGGCATGTGAGGATCATGGGGGACATGTGAGGATCATG GGAAGACGTGAGGATCATGGGGGGGACGTGTGAGGATCATGGGGGGGACC CGTGAGGGTCATGGGGGGATGTGTGAGGATCATGGGGGGGGAACGTGTGA GGATCATGGGGGGGATGTGTGAGGATCATGGGACATGTGAGGATCATGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COLEC11_chr2_3590112_3649644	3592295	C C	CGGAGAGG others(221): Show CGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0347 a0002c0002t0001g0347	1	378	0.0027	228	c.-29 others(239): Show c.-2900_-2899insGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding		2816		chr2	TogoVar
COMMD10_chr5_116080025_116298287	116158291	C C	CTCCGTCT others(221): Show CTCCGTCTCCCCTCTCTCCGTCTCCCCTCTCTCCCTCTCCCCTCTCTCCC TCTCCCCTCTCTCCCTCTCCCCTCTCCCTCTCCCCTCTCTCCCTCTCCCC TCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCT CCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTC TCCCCTCTCTCCCTCTCCCCTCTCTCCCT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	350	0.0029	228	c.510 others(247): Show c.510+24113_510+24114insTCCGTCTCCCCTCTCTCCGTCTCCCC TCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCC CTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTC CCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTC TCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCC CT	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6			chr5	TogoVar
COMMD10_chr5_116080025_116298287	116158501	T T	TCTCCTCT others(221): Show TCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCC TCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCT CTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCC TCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCC TCTCTCTCCGTCTCCTCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0329 a0001c0001t0001g0329	1	350	0.0029	228	c.510 others(247): Show c.510+24324_510+24325insTCCTCTCTCTCCCTCTCCTCTCTCTC CCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCT CCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCT CTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCCTCTCCTCTCTCTC CCTCTCCTCTCTCTCCCTCTCCTCTCTCTCCGTCTCCTCTCTCCCCCTCC CC	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
CPED1_chr7_120983711_121302442	121047646	T T	TTTCTTCT others(221): Show TTTCTTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCT TCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0040 a0003c0006t0001g0040	1	140	0.0071	228	c.540 others(243): Show c.540+662_540+663insCTCTTCCTCTTCCTCTTCCTCTTCCTCTTC CTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPNE7_chr16_89570758_89602246	89598075	C C	CCCATCTG others(221): Show CCCATCTGTCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACC CATCCGTCCACCCATCCGTCCACTCACCCATCCGTCCACTCACCCATCTG TCCACCCATTCCCCCGCCCACCCATCCGTCCACCCATCTGTCCACCTATC TGTCCACCCATCCGTCCACCCATCCGTCCACCCATCCCCCCACCCACCCG TCCGTCCATCCATCCCCCCACCCACCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	348	0.0029	228	c.14 others(239): Show c.1454_*1455insCCATCTGTCCACCCATCTGTCCACCCATCCGTCC ACCCATCCCCCCACCCATCCGTCCACCCATCCGTCCACTCACCCATCCGT CCACTCACCCATCTGTCCACCCATTCCCCCGCCCACCCATCCGTCCACCC ATCTGTCCACCTATCTGTCCACCCATCCGTCCACCCATCCGTCCACCCAT CCCCCCACCCACCCGTCCGTCCATCCATCCCCCCACCCACCCAT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		830		chr16	TogoVar
CRACDL_chr2_98788846_98941225	98930326	A A	ATCCCCAC others(221): Show ATCCCCACCCTCTGTACCGTGTCCCCTACCCCATCCCCGTCCCCACCCTC TGTACCGTGTCCCCTACCCCATCCCCGTCCCCACCCTCTGTACCGTGTCC CCTACCCCATCCCCGTCCCCACCCTCTGTACCGTGTCCCCTACCCCATCC CCGTCCCCACCCTCTGTACCGTGTCCCCTACCCCATCCCCGTCCCCACCC TCTGTACCGTGTCCCCTACCCCATCCCCG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02896.hp2 HG03471.hp2 others(1): Show HG02818.hp1 HG02896.hp2 HG03471.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 others(1): Show a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0010t0001g0197	4	316	0.0127	228	c.-11 others(245): Show c.-11+5611_-11+5612insCGGGGATGGGGTAGGGGACACGGTACAG AGGGTGGGGACGGGGATGGGGTAGGGGACACGGTACAGAGGGTGGGGACG GGGATGGGGTAGGGGACACGGTACAGAGGGTGGGGACGGGGATGGGGTAG GGGACACGGTACAGAGGGTGGGGACGGGGATGGGGTAGGGGACACGGTAC AGAGGGTGGGGACGGGGATGGGGTAGGGGACACGGTACAGAGGGTGGGGA	CRACDL	ENSG00000196872.12	transcript	ENST00000397899.7	protein_coding	1/9			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923522	A A	AGCCCCCC others(221): Show AGCCCCCCACACTAACCCAGCCCCCAACACTAACCCAGCCCCCCACACTA ACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCCACA CTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCCA CACTAACCCGGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCCCC CACACTGACCCGGCCCCCACACTAACCCG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03453.hp1 HG03471.hp2 others(1): Show HG02683.hp1 HG03453.hp1 HG03471.hp2 HG03688.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0008 a0001c0001 a0002c0002 a0008c0008	a0001c0001t0001 a0002c0002t0001 a0008c0008t0002 a0001c0001t0001 a0002c0002t0001 a0008c0008t0002	a0001c0001t0001g0058 a0002c0002t0001g0060 a0008c0008t0002g0262 others(1): Show a0001c0001t0001g0058 a0002c0002t0001g0060 a0008c0008t0002g0262 a0008c0008t0002g0270	4	350	0.0114	228	c.488 others(243): Show c.488+894_488+895insAGCCCCCAACACTAACCCAGCCCCCCACAC TAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCCA CACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCC CACACTAACCCGGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCC CCCACACTGACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923587	A A	AACCCGGC others(221): Show AACCCGGCCCCCCACACTAACCCAGTCCCCCACACTAACCCAGTCCCCAC ACTAACCCAGTCCCCACACTAACCCAGTCCCCCACACTAACCCAGTCCCC CACACTAACCCGGCCCCCACACTGACCCGGCCCCCACACTGACCCGGCCC CCCACACTGACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGG CCCCCACACTAACCCGGCCCCCCACACTG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0254 a0008c0008t0002g0254	1	350	0.0029	228	c.488 others(243): Show c.488+946_488+947insGGCCCCCCACACTAACCCAGTCCCCCACAC TAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCCAC ACTAACCCAGTCCCCCACACTAACCCGGCCCCCACACTGACCCGGCCCCC ACACTGACCCGGCCCCCCACACTGACCCGGCCCCCACACTAACCCGGCCC CCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTGACCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSF2RA_chrX_1263814_1314935	1296656	C C	CGACCCCT others(221): Show CGACCCCTACAGTCTCCTACCCATGACCCCTGGCGGAACCGTACAGTCCC CTACTCACGACCCCTACACTCTCCTACCCAAGACCCCTGGCGGAACCCTA CAGTCCCCTACTCACGACCCCTACACTCTCCTACCCATGACCCCTGGCGG AACCCTACAGTCCCCTACTCACGACCCCTACACTCTCCTACCCATGACCC GTGGCGGAACTGTACAGTCCCCTACTCAT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0098 a0001c0002t0004g0098	1	159	0.0063	228	c.810 others(245): Show c.810+1232_810+1233insCGGAACCGTACAGTCCCCTACTCACGAC CCCTACACTCTCCTACCCAAGACCCCTGGCGGAACCCTACAGTCCCCTAC TCACGACCCCTACACTCTCCTACCCATGACCCCTGGCGGAACCCTACAGT CCCCTACTCACGACCCCTACACTCTCCTACCCATGACCCGTGGCGGAACT GTACAGTCCCCTACTCATGACCCCTACAGTCTCCTACCCATGACCCCTGG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1296696	C C	CTACAGTC others(221): Show CTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCCGG TGGAACCCTACAGTCCCCTACTCACGACCCCTACACTCTCCTACCCATGA CCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTACACTCTCCTA CCCATGACCCGTGGCGGAACTGTACAGTCCCCTACTCACGACCCCTACAC TCTCCTACCTATGACCCGTGGCGGAACTG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0111 a0001c0002t0003g0119 a0001c0002t0003g0111 a0001c0002t0003g0119	2	159	0.0126	228	c.810 others(245): Show c.810+1286_810+1287insCGGTGGAACCCTACAGTCCCCTACTCAC GACCCCTACACTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCC TACTCACGACCCCTACACTCTCCTACCCATGACCCGTGGCGGAACTGTAC AGTCCCCTACTCACGACCCCTACACTCTCCTACCTATGACCCGTGGCGGA ACTGTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1296696	C C	CTACAGTC others(221): Show CTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGG TGGAACCCTACAGTCCCCTACTCACGACCCCTACACTCTCCTACCCATGA CCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTACACTCTCCTA CCCATGACCCGTGGCGGAACTGTACAGTCCCCTACTCACGACCCCTACAC TCTCCTACCCATGACCCGTGGCGGAACTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp2 HG01070.hp2 others(20): Show HG00408.hp2 HG00639.hp2 HG01070.hp2 HG01192.hp2 HG01496.hp1 HG01891.hp1 HG01993.hp1 HG02056.hp2 HG02155.hp2 HG02809.hp1 HG02886.hp1 HG03041.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03710.hp1 NA18973.hp1 NA18975.hp1 NA18998.hp1 NA19005.hp1 NA19009.hp1 NA19011.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0018 others(1): Show a0001c0001 a0001c0002 a0001c0018 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0018t0003 a0002c0003t0002 a0002c0003t0005	a0001c0001t0001g0064 a0001c0001t0001g0095 a0001c0001t0001g0096 others(20): Show a0001c0001t0001g0064 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0002g0031 a0001c0001t0002g0069 a0001c0001t0003g0024 a0001c0001t0003g0041 a0001c0001t0003g0118 a0001c0002t0001g0103 a0001c0002t0002g0018 a0001c0002t0003g0035 a0001c0002t0003g0059 a0001c0002t0003g0080 a0001c0002t0004g0038 a0001c0002t0004g0063 a0001c0002t0004g0110 a0001c0002t0004g0132 a0001c0002t0006g0039 a0001c0018t0003g0107 a0002c0003t0002g0005 a0002c0003t0002g0029 a0002c0003t0005g0010 a0002c0003t0005g0137	23	159	0.1447	228	c.810 others(245): Show c.810+1289_810+1290insTGGAACCCTACAGTCCCCTACTCACGAC CCCTACACTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTAC TCACGACCCCTACACTCTCCTACCCATGACCCGTGGCGGAACTGTACAGT CCCCTACTCACGACCCCTACACTCTCCTACCCATGACCCGTGGCGGAACT GTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGG	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CUL4A_chr13_113204613_113272108	113232250	G G	GTCACCAC others(221): Show GTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTA CCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACTATTAC TGCTGCTGCCACCACCAGTATTACTGTCACCGCCACCACCGCTATTACTA CTGCCACCACCACCTGTCCACCACCATTA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	396	0.0025	228	c.513 others(243): Show c.513-927_513-926insTCACCACTACCTGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACC ACCATTACTGTCACCACTACCTGCCCACCACCATTACTGCTGCCACCACT ACCCGCCCACCACTATTACTGCTGCTGCCACCACCAGTATTACTGTCACC GCCACCACCGCTATTACTACTGCCACCACCACCTGTCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
CXorf51A_chrX_146809106_146819744	146812296	T T	TGTACATA others(221): Show TGTACATATATGTGTATATATGTATATACACATATATATGTGTACATATA TGTGTATATATGTATATACACATATATATGTGTACATATATGTGTATATA TGTATATACACATATATATGTGTATATATGTATATACACATATATATGTG TACATATATGTGTGTATATGTGTGTATATATACATATATGTGTATATACG TATATACACATGTGTATATACGTATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0009 a0006c0006t0001g0009	1	264	0.0038	228	c.19 others(239): Show c.1910_*1911insGTATATACGTATATACACATGTGTATATACGTAT ATACACATATATGTATATATACACACATATACACACATATATGTACACAT ATATATGTGTATATACATATATACACATATATATGTGTATATACATATAT ACACATATATGTACACATATATATGTGTATATACATATATACACATATAT GTACACATATATATGTGTATATACATATATACACATATATGTAC	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1809		chrX	TogoVar
CXorf51A_chrX_146809106_146819744	146812300	C C	CATATATA others(221): Show CATATATATGTGTATATACATATATACACATATATATGTGTATATACATA TATACACATATATGTACACATATATATGTGTATATACATATATACACATA TATGTACACATATATATGTGTATATACGTATATACACATATATGTACACA TATGTGTGTGTATATATGTGTGTATATACATATATGTGTATATACGTATA TACACATGTGTATATACGTATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	264	0.0038	228	c.19 others(239): Show c.1906_*1907insATGTGTATATACGTATATACACATGTGTATATAC GTATATACACATATATGTATATACACACATATATACACACACATATGTGT ACATATATGTGTATATACGTATATACACATATATATGTGTACATATATGT GTATATATGTATATACACATATATATGTGTACATATATGTGTATATATGT ATATACACATATATATGTGTATATATGTATATACACATATATAT	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1805		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812300	C C	CATATATA others(221): Show CATATATATGTGTATATACATATATACACATATATATGTGTATATACATA TATACACATATATGTACACATATATATGTGTATATACATATATACACATA TATGTACACATATATATGTGTATATACGTATATACACATATATGTACACA TATGTGTGTGTATATATGTGTGTATATACATATATGTGTATATACGTATA TACACATGTGTATATACGTATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	272	0.0037	228	c.19 others(239): Show c.1992_*1993insATATATATGTGTATATACATATATACACATATAT ATGTGTATATACATATATACACATATATGTACACATATATATGTGTATAT ACATATATACACATATATGTACACATATATATGTGTATATACGTATATAC ACATATATGTACACATATGTGTGTGTATATATGTGTGTATATACATATAT GTGTATATACGTATATACACATGTGTATATACGTATATACACAT	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1890		chrX	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATAT others(221): Show ATATATATATGTGTATATATATATATATATATATATGTGTATATATATAT ATATATATATATGTGTATATATATATATATATATATATGTGTATATATAT ATATATATATATATGTGTATATATATATATATATATGTGTATATATATAT ATATATATATATATGTGTATATATATATATATATATATATATATATGTGT ATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0121 a0002c0002t0121	a0002c0002t0121g0210 a0002c0002t0121g0210	1	334	0.0030	228	c.290 others(243): Show c.290-150_290-149insTATATATGTGTATATATATATATATATATA TATGTGTATATATATATATATATATATATGTGTATATATATATATATATA TATATGTGTATATATATATATATATATATATGTGTATATATATATATATA TATGTGTATATATATATATATATATATATATGTGTATATATATATATATA TATATATATATATGTGTATATATATATATATATATATATATATATGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar

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