Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TOLLIP_chr11_1269371_1314632	1287808	C C	CGCCGCAC others(618): Show CGCCGCACCCTCCCCGCCGCAGCCTCACCGCCGCACCCTCCCCGCCGCAG CCTCACCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCG CCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCC GCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACC CTCCCCGCCGCAGCCTCACCGCCGCACCCTCCCCGCCGCAGCCTCCCTGC CGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCT CCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCG CAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCT CTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCA CCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCC GCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGC CTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGC CGCAGCCTCCCCGCCGCACCCTCTCT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0311 a0001c0001t0004g0311	1	348	0.0029	625	c.519 others(640): Show c.519+815_519+816insAGAGAGGGTGCGGCGGGGAGGCTGCGGCAG AGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTG CGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGG AGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCG GCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAG GGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGC AGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGC TGCGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCAG GGAGGCTGCGGCGGGGAGGGTGCGGCGGTGAGGCTGCGGCGGGGAGGGTG CGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGT GCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGG GAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGTGAGGCTGC GGCGGGGAGGGTGCGGCGGTGAGGCTGCGGCGGGGAGGGTGCGGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOX_chr8_58800412_59124147	59092275	A A	ATATTATA others(618): Show ATATTATATATACATTATATATATATATATTATATATACATTATATATAT ATATATTATATATACATTATATATATATATTATATATACATTATATATAT ATATTATATATACATTATATATATATATTATATATACATTATATATATAT ATTATATATACATTATATATATATATACATTATATATATATTATATATAC ATTATATATATATTATATATACATTATATATATATATTATATATACATTA TATATATATATTATATATACATTATATATATATATTATATATACATTATA TATATATATTATATATACATTATATATATATTATATATACATTATATATA TATTATATATACATTATATATATATTATATATACATTATATATATATTAT ATATACATTATATATATATATTATATATACATTATATATATTATATATTA TATATACATTATATATATTATATATTATATATACATTATATATATCATAT ATTATATATACATTATATATATCATATATTATATATACATTATATATATT ATATATTATATATACATTATATATATTATATATTATATATACATTATATA TTATATATTATATATACATTATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	224	0.0045	625	c.102 others(644): Show c.102+26610_102+26611insATATATAATGTATATATAATATATAA TATATAATGTATATATAATATATAATATATATAATGTATATATAATATAT AATATATATAATGTATATATAATATATGATATATATAATGTATATATAAT ATATGATATATATAATGTATATATAATATATAATATATATAATGTATATA TAATATATAATATATATAATGTATATATAATATATATATATAATGTATAT ATAATATATATATAATGTATATATAATATATATATAATGTATATATAATA TATATATAATGTATATATAATATATATATAATGTATATATAATATATATA TATAATGTATATATAATATATATATATAATGTATATATAATATATATATA TAATGTATATATAATATATATATATAATGTATATATAATATATATATAAT GTATATATAATATATATATAATGTATATATATATATAATGTATATATAAT ATATATATATAATGTATATATAATATATATATATAATGTATATATAATAT ATATATATAATGTATATATAATATATATATATAATGTATATATAATATAT ATATATATAATGTATATATAATATATATATATATAATGTATATATAATA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TOX_chr8_58800412_59124147	59092275	A A	ATATTATA others(618): Show ATATTATATATACATTATATATATTATATATATATACATTATATATACAT TATATATATTATACATTATATATACATTATATATATTATACATTATATAT ACATTATATATATTATATATTATATATACATTATATATATTATATATTAT ATATACATTATATATATTATATATTATATATACATTATATATATTATATA TTATATATACATTATATATATTATATATTATATATACATTATATATATTA TATATTATATATACATTATATATATTATATATTATATATACATTATATAT ATTATATATTATATATACATTATATATATTATATATTATATATACATTAT ATATATTATATATTATATATACATTATATATATTATATATTATATATACA TTATATATATTATATATTATATATACATTATATATATTATATATTATATA TACATTATATATATTATATATTATATATACATTATATATATTATATATTA TATATACATTATATATATTATATATTATATATACATTATATATATTATAT ATTATATATACATTATATATATTATATATTATATATACATTATATATATT ATATATTATATATACATTATATATAT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18961.hp2 NA18946.hp1 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0085 a0001c0001t0001g0068 a0001c0001t0001g0085	2	224	0.0089	625	c.102 others(644): Show c.102+26610_102+26611insATATATATAATGTATATATAATATAT AATATATATAATGTATATATAATATATAATATATATAATGTATATATAAT ATATAATATATATAATGTATATATAATATATAATATATATAATGTATATA TAATATATAATATATATAATGTATATATAATATATAATATATATAATGTA TATATAATATATAATATATATAATGTATATATAATATATAATATATATAA TGTATATATAATATATAATATATATAATGTATATATAATATATAATATAT ATAATGTATATATAATATATAATATATATAATGTATATATAATATATAAT ATATATAATGTATATATAATATATAATATATATAATGTATATATAATATA TAATATATATAATGTATATATAATATATAATATATATAATGTATATATAA TATATAATATATATAATGTATATATAATATATAATATATATAATGTATAT ATAATATATAATATATATAATGTATATATAATATATAATATATATAATGT ATATATAATGTATAATATATATAATGTATATATAATGTATAATATATATA ATGTATATATAATGTATATATATATAATATATATAATGTATATATAATA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TP53AIP1_chr11_128930370_128947871	128930961	T T	TGGAGGCA others(618): Show TGGAGGCAGGGATTATGGAGGCAGGGATTAGGGAGGCAGGGATTAGGGAG GCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCA GGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCAGGGAT TATGGAGGCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAG AGGCCAGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGG CCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGG GGTTATGGAGGCAGGGATTATGGAGGCAGGGATTAGGGAGGCAGGGATTA GGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTTAGGGA GGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGC TGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTATGGAGGCAGGGA TTATGGAGGCAGGGATTAGGGAGGCAGGGATTAGGGAGGCCGGGGTTAGG GAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGGTTAGGGAG GCTGGGGTTAGGGAGGCCGGGGTTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02965.hp1 HG03130.hp2 others(1): Show HG02615.hp2 HG02965.hp1 HG03130.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0015 a0001c0001t0021 a0002c0002t0002 a0001c0001t0015 a0001c0001t0021 a0002c0002t0002	a0001c0001t0015g0046 a0001c0001t0021g0096 a0002c0002t0002g0103 others(1): Show a0001c0001t0015g0046 a0001c0001t0021g0096 a0002c0002t0002g0103 a0002c0002t0002g0112	4	466	0.0086	625	c.46 others(636): Show c.4629_*4630insCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAA CCCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCC CGGCCTCCCTAATCCCTGCCTCCCTAATCCCTGCCTCCATAATCCCTGCC TCCATAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCT AACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTAAC CCCTGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCT GCCTCCCTAATCCCTGCCTCCATAATCCCTGCCTCCATAACCCCGGCCTC CCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTA ACCCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCCTGGCCTCTCTAACC CCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGCCTCCATAATCCCTGC CTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCC CTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAA TCCCTGCCTCCCTAATCCCTGCCTCCATAATCCCTGCCTCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4408		chr11	TogoVar
TSHZ2_chr20_52967358_53500330	53204100	T T	TATACTAT others(618): Show TATACTATTATATCATCATATGATGATATACTATTATATCATCATATGAT GATATGATACTATTATATCATCATATGATGATATGATACTATTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATATGATATACTATATCATCATATGAT GATATGATATACTATATCATCATATGATGATATGATATACTATATCATCA TATGATGATATGATATACTATATCATCATATGATGATATGATATACTATA TCATCATATGATGATATGATATACTATATCATCATATGATGATATGATAT ACTATATCATCATATGATGATATGATATACTATATCATCATATGATGATA TGATATACTATATCATCATATGATGATATGATATACTATATCATCATATG ATGATATGATACTATATCATCATATG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0100 a0001c0001t0011g0100	1	174	0.0058	625	c.41- others(642): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATAC TATTATATCATCATATGATGATATGATACTATTATATCATCATATGATGA TATGATACTATTATATCATCATATGATGATATGATACTATATCATCATAT GATGATATGATACTATATCATCATATGATGATATGATACTATATCATCAT ATGATGATATGATACTATATCATCATATGATGATATGATACTATATCATC ATATGATGATATGATATACTATATCATCATATGATGATATGATATACTAT ATCATCATATGATGATATGATATACTATATCATCATATGATGATATGATA TACTATATCATCATATGATGATATGATATACTATATCATCATATGATGAT ATGATATACTATATCATCATATGATGATATGATATACTATATCATCATAT GATGATATGATATACTATATCATCATATGATGATATGATATACTATATCA TCATATGATGATATGATATACTATATCATCATATGATGATATGATATACT ATATCATCATATGATGATATGATATACTATATCATCATATGATGATATGA TATACTATATCATCATATGATGATATGATACTATATCATCATATGAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
UCKL1_chr20_63934829_63961416	63948633	A A	AGGGGCGT others(618): Show AGGGGCGTGTGTGAGGGAGGGGGCGTGTGCGAGAGGGAGGGGCGTGTGTG AGAGGGAGGGGGCGTGTGTGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGC GTGTGAGAGGGAGGGGGCGTGTGTGAGAGGCAGGGGCGTGTGTGTGAGGG AGGGGCGTGAGAGGGAGGGGCGTGTGTGGGGGGGGCGTGTGTGAGAGGTA GGGGCGTGTGTGAGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGGCGTGTG TGAGAGGGAGGGGCGTGTGTGAGGGAGGGGGCGTGTGTGAGAGGGAGGGG CGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGGCGTGTGTGAGA GGGAGGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAAGGGAGGGGCGTG TGTGAGAGTGGGGGCGTGTGTGAGAGGGGCGTGAGAGGTAGGGGCGTGTG TGAGAGGGAGGGGGCGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCG TGTGTGAGAGGGAGGGGCGTGTGTGAGAGGCAGGGGCGTGTGTGAGAGGG AGGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAAGGGGCGTGT GAGAGGGAGGGGCGTGTGTGAGAGGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03579.hp1 HG01109.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0182 a0001c0002t0001g0183 a0001c0001t0001g0182 a0001c0002t0001g0183	2	356	0.0056	625	c.114 others(642): Show c.114-1991_114-1990insCCCTCTCACACACGCCCCTCCCTCTCAC ACGCCCCTTCCCTCTCACACACGCCCCTCCCTCTCACACACGCCCCCTCC CTCTCACACACGCCCCTGCCTCTCACACACGCCCCTCCCTCTCACACACG CCCCTCCCTCTCACACACGCCCCTCCCTCTCACGCCCCCTCCCTCTCACA CACGCCCCTACCTCTCACGCCCCTCTCACACACGCCCCCACTCTCACACA CGCCCCTCCCTTCACACACGCCCCTCCCTCTCACACACGCCCCCTCCCTC TCACACACGCCCCCTCCCTCTCACACACGCCCCTCCCTCTCACACACGCC CCTCCCTCTCACACACGCCCCCTCCCTCACACACGCCCCTCCCTCTCACA CACGCCCCCTCCCTCTCACACACGCCCCCTCCCTCTCACACACGCCCCTA CCTCTCACACACGCCCCCCCCACACACGCCCCTCCCTCTCACGCCCCTCC CTCACACACACGCCCCTGCCTCTCACACACGCCCCCTCCCTCTCACACGC CCCTCCCTCTCACACACGCCCCCTCCCTCACACACGCCCCCTCCCTCTCA CACACGCCCCTCCCTCTCGCACACGCCCCCTCCCTCACACACGCCCC	UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding	1/14			chr20	TogoVar
ULK1_chr12_131889622_131928150	131917306	G G	GTTCGGCT others(618): Show GTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGT GGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTC GGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTC GGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCT GTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGT TCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGG TCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGG CTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGG GTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGT GGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTC GGCTCGGAGGCTGTGGGATGGGGGTC	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0013 a0013	a0013c0037 a0013c0037	a0013c0037t0003 a0013c0037t0003	a0013c0037t0003g0286 a0013c0037t0003g0286	1	344	0.0029	625	c.218 others(642): Show c.2183-105_2183-104insTTCGGCTCGGAGGCTGTGGGACGGGGGT CGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGA GGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTC GGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCG GAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGG TCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGG GGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGG AGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGT CGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTC	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27			chr12	TogoVar
UMAD1_chr7_7635752_7884223	7679092	T T	TATAAATA others(618): Show TATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTT AGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACAT ATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTT ACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATAT ATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAAT ATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTAT AAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTAT AAATACATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTAT AAATACATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGT TTATAAGTACATATTTATATATTTAGTTTATAAGTACATATTTATATATT TAATTTATAAGTATATATTTATATATTTAATTTATAGATAAATATATATT TATATATTTAATTTATAGATAAATATATTTATATATTTAATTTATAGATA AATATATTTATATATTTAATTTATAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0174 a0001c0001t0003g0174	1	250	0.0040	625	c.82+ others(640): Show c.82+5644_82+5645insTATATATTTACATATTTAGTTTATAAATAT ATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAA ATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTT ATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTA GTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATA TTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTA CATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATATTTA CATATTTAGTTTATAAATACATATTTATTTAGTTTATAAATACATATTTA CATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATA TTTATATATTTAGTTTATAAGTACATATTTATATATTTAGTTTATAAGTA CATATTTATATATTTAATTTATAAGTATATATTTATATATTTAATTTATA GATAAATATATATTTATATATTTAATTTATAGATAAATATATTTATATAT TTAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
VSIG4_chrX_66016738_66045080	66037121	A A	AATATATA others(618): Show AATATATATAATATATATAATATATATAATATAATATAATGCAATATATA ATAATTATATAATATAATATATAATATATAATATATATTATATATAATAT ATAATATATAATATATATTATATATAATAATATAATATATAATATACATT ATATAATAATATAATGTATATTATATAATAATAATGTAATATATAACATA TATTATATAATAATAATATAAGATATATTATATAATTAATATAATATATA ATATATATTATATAATAATAATATAAGATATATTATATAATTAATATAAT ATATAATATATATTATATAATTAATATAATATATAATATATATTATATAA TAATAATATAATATATATAATAATTATATAATATAGTATATAATATATAT TATATAATAATAATATAATATATATAATAATTATATAATATTAGAATATA TATTATACAATAATAATATAATATATATTATACAATAATAATATAATATA TATATAATTATATAATATAATATATATAATAATAATATAATATAATATAT AATATATATTATATAGTAATAATATAATATAATATATAATATATATTATA TAATAATATAATATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02074.hp1 HG04184.hp2 others(2): Show HG01361.hp1 HG02074.hp1 HG04184.hp2 NA18979.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0086 a0001c0001t0001g0087 others(2): Show a0001c0001t0001g0040 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0136 a0001c0001t0001g0137	5	218	0.0229	625	c.55+ others(640): Show c.55+2822_55+2823insATATTATATATTATATTATATTATTATATA ATATATATTATATATTATATTATATTATTACTATATAATATATATTATAT ATTATATTATATTATTATTATATATATTATATTATATAATTATATATATA TTATATTATTATTGTATAATATATATTATATTATTATTGTATAATATATA TTCTAATATTATATAATTATTATATATATTATATTATTATTATATAATAT ATATTATATACTATATTATATAATTATTATATATATTATATTATTATTAT ATAATATATATTATATATTATATTAATTATATAATATATATTATATATTA TATTAATTATATAATATATCTTATATTATTATTATATAATATATATTATA TATTATATTAATTATATAATATATCTTATATTATTATTATATAATATATG TTATATATTACATTATTATTATATAATATACATTATATTATTATATAATG TATATTATATATTATATTATTATATATAATATATATTATATATTATATAT TATATATAATATATATTATATATTATATATTATATTATATAATTATTATA TATTGCATTATATTATATTATATATATTATATATATTATATATAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(618): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCT CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTC CCTCCCTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTTCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTTCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0005 a0003c0003t0003g0005	1	326	0.0031	625	c.483 others(640): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTTCCTTCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC TTCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTTCCTCCCTCC CTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTTCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTC CTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCC CTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCC TTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(618): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGG GAGGGAGGGGGAGGGAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAG GGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGG AGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGA GGGAGGGAGGGAAGGCAGGGAGGGGAGGGAGGGAGGGGAGGGAGGGGAGG GAGGGGAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAGGGAGG GAAGTGAGGGGAGGGAGGGAGGGAAGGCAGGGAGGGGAGGGAGGGAGGGA AGGGAGGGGAGGGAGGGAGGGAAGTGAAGGAAAGGGAAAGAGGGAGGGAG GGAAGGGAAGGGAAGGGAAGGGAGGGGAGGGTGGGGAGGGTGGGATGAAG GAAATGGAAAGAAAGGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0248 a0001c0004t0002g0248	1	290	0.0035	625	c.205 others(644): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTCCCCTC CCTCCCCTCCCTCCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCC TCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCT CCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCC CTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTCCCTCCCCCTCCCTC CCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCT CCCCTCCCTCCCTCCCCTCCCTTCCCTGCCTACCTCCCTCCCCTCCCTTC CCTTCCCTCACTCCCTCCCTCCTCTCCCTTCCCTTTCCTCCCTCCCTCCT TCCTCTCACTTCCCTTTTCTCCCTCCCTCCCTCCCCTCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ZNF365_chr10_62369369_62407450	62370997	A A	ATATATAT others(618): Show ATATATATCATATATGTGATATATATCATATATATCAAATATATGATATA TATCATATATGTGATATATATCACATATGTGATATATATCATATATGTGA TATATATCACATATGTGATATATATCATATCACATATCATATGACATATC ATATCACATATCACATATCACATATCACATATCACATATCATATGATATA TATCACATGTGATATATAGCATGTGATATATATCATATATATCACATGTG ATATATAGCATATGTGATATATATCATATATATCACATGTGATATATAGC ATATGTGATATATATCATATATATCACATATGCTATATAGCATATGTGAT ATATATCATATATATCACATATGCTATATAGCATACGTGATATATATCAT ATATATCATATATGATGTATAGCATGATATATATGCTATATATCACATGT GATATATAGCATATATATCACATGTGATATATAGCATATATATCACATGT GATATATAGCATATGTGATATATATGATATATGTGATATATATCATATGT GATATATATGATATATATCACATATATATGATATATATCACATATATATC ATATATATCATATATATCATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	350	0.0029	625	c.-34 others(636): Show c.-3475_-3474insTATATATCATATATGTGATATATATCATATATAT CAAATATATGATATATATCATATATGTGATATATATCACATATGTGATAT ATATCATATATGTGATATATATCACATATGTGATATATATCATATCACAT ATCATATGACATATCATATCACATATCACATATCACATATCACATATCAC ATATCATATGATATATATCACATGTGATATATAGCATGTGATATATATCA TATATATCACATGTGATATATAGCATATGTGATATATATCATATATATCA CATGTGATATATAGCATATGTGATATATATCATATATATCACATATGCTA TATAGCATATGTGATATATATCATATATATCACATATGCTATATAGCATA CGTGATATATATCATATATATCATATATGATGTATAGCATGATATATATG CTATATATCACATGTGATATATAGCATATATATCACATGTGATATATAGC ATATATATCACATGTGATATATAGCATATGTGATATATATGATATATGTG ATATATATCATATGTGATATATATGATATATATCACATATATATGATATA TATCACATATATATCATATATATCATATATATCATATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3371		chr10	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(618): Show GTATATATACATGTATATATATACAAGTATATATATACTTGTATATATAT ATACAAGTATATATATACTTGTATACATATATACTATATATATACATATA TACACATATATACGTATATATATGTATATATACATATATACGTGTATATA CGTATATACATGTATATACGTATATATACACATATATACATGTATATATA CGTATATATACACATATATACGTGTATATATACGTATATATACACATATA TACGTGTATATATACATGTATATATACACATATATACATGTATATATATA CGTATATATACATGTATATATACGTACGTATATATACATGTATATATACG TACGTATATATATACGTATATATACACATATATACATATATACGTATATA TATATACGTATATATACATATATACGTATATATATACGTATATATACATA TATACGTATATATATACGTATATATACATATATACGTATATATATATACG TATATATACATATATACATGTATATATATATACGTATATATACATATATA CATGTATATATATATACGTATATACACATATATATACATGTATATATATG TGTATATATACATGTATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG00639.hp2 others(41): Show HG00423.hp2 HG00597.hp1 HG00639.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01167.hp2 HG01192.hp2 HG01361.hp1 HG01516.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01993.hp1 HG02015.hp1 HG02083.hp2 HG02135.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02486.hp1 HG02486.hp2 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG03098.hp2 HG03195.hp2 HG03490.hp2 HG03492.hp2 HG03942.hp2 NA18906.hp2 NA18952.hp1 NA18959.hp2 NA18961.hp1 NA18964.hp2 NA18967.hp2 NA18992.hp1 NA19012.hp2 NA19070.hp1 NA19074.hp2 NA19084.hp1 NA20752.hp1	a0001 a0005 a0015 a0001 a0005 a0015	a0001c0001 a0001c0011 a0005c0006 others(1): Show a0001c0001 a0001c0011 a0005c0006 a0015c0021	a0001c0001t0001 a0001c0001t0009 a0001c0011t0001 others(2): Show a0001c0001t0001 a0001c0001t0009 a0001c0011t0001 a0005c0006t0001 a0015c0021t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(31): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0188 a0001c0001t0001g0197 a0001c0001t0001g0249 a0001c0001t0009g0165 a0001c0011t0001g0194 a0001c0011t0001g0196 a0005c0006t0001g0043 a0005c0006t0001g0183 a0015c0021t0001g0193	44	383	0.1149	625	c.-42 others(636): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA TACTTGTATATATATATACAAGTATATATATACTTGTATACATATATACT ATATATATACATATATACACATATATACGTATATATATGTATATATACAT ATATACGTGTATATACGTATATACATGTATATACGTATATATACACATAT ATACATGTATATATACGTATATATACACATATATACGTGTATATATACGT ATATATACACATATATACGTGTATATATACATGTATATATACACATATAT ACATGTATATATATACGTATATATACATGTATATATACGTACGTATATAT ACATGTATATATACGTACGTATATATATACGTATATATACACATATATAC ATATATACGTATATATATATACGTATATATACATATATACGTATATATAT ACGTATATATACATATATACGTATATATATACGTATATATACATATATAC GTATATATATATACGTATATATACATATATACATGTATATATATATACGT ATATATACATATATACATGTATATATATATACGTATATACACATATATAT ACATGTATATATATGTGTATATATACATGTATATATACACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(618): Show GTATATATACATGTATATATATACAAGTATATATATACTTGTATATATAT ATACAAGTATATATATACTTGTATACATATATACTATATATATACATATA TACACATATATACGTATATATATGTATATATACATATATACGTGTATATA CGTATATACATGTATATACGTATATATACACATATATACATGTATATATA CGTATATATACACATATATACGTGTATATATACGTATATATACACATATA TACGTGTATATATACATGTATATATACACATATATACATGTATATATATA CGTATATATACATGTATATATACGTACGTATATATACATGTATATATACG TACGTATATATATACGTATATATACGTATATATACATATATACGTATATA TATATACGTATATATACATATATACGTATATATATACGTATATATACATA TATACGTATATATATACGTATATATACATATATACGTATATATATATACG TATATATACATATATACATGTATATATATATACGTATATATACATATATA CATGTATATATATATACGTATATACACATATATATACATGTATATATATG TGTATATATACATGTATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG03540.hp1 others(2): Show HG02896.hp1 HG02897.hp2 HG03540.hp1 HG03579.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0182 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0182	5	383	0.0131	625	c.-42 others(636): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA TACTTGTATATATATATACAAGTATATATATACTTGTATACATATATACT ATATATATACATATATACACATATATACGTATATATATGTATATATACAT ATATACGTGTATATACGTATATACATGTATATACGTATATATACACATAT ATACATGTATATATACGTATATATACACATATATACGTGTATATATACGT ATATATACACATATATACGTGTATATATACATGTATATATACACATATAT ACATGTATATATATACGTATATATACATGTATATATACGTACGTATATAT ACATGTATATATACGTACGTATATATATACGTATATATACGTATATATAC ATATATACGTATATATATATACGTATATATACATATATACGTATATATAT ACGTATATATACATATATACGTATATATATACGTATATATACATATATAC GTATATATATATACGTATATATACATATATACATGTATATATATATACGT ATATATACATATATACATGTATATATATATACGTATATACACATATATAT ACATGTATATATATGTGTATATATACATGTATATATACACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(618): Show GTATATATACATGTATATATATACAAGTATATATATACTTGTATATATAT ATACAAGTATATATATACTTGTATACATATATACTATATATATACATATA TACACATATATACGTATATATATGTATATATACATATATACGTGTATATA CGTATATACATGTATATACGTATATATACACATATATACATGTATATATA CGTATATATACACATATATACGTGTATATATACGTATATATACACATATA TACGTGTATATATACATGTATATATACACATATATACATGTATATATATA CGTATATATACATGTATATATACGTACGTATATATACATGTATATATACG TACGTATATATATACGTATATATACGTATATATACATATATACGTATATA TATATACGTATATATACATATATACGTATATATATATACGTATATATACA TATATACGTATATATATACGTATATATACATATATACGTATATATATATA CGTATATATACATATATACGTATATATATATACGTATATATACATATATA CATGTATATATATATACGTATATACACATATATATACATGTATATATATG TGTATATATACATGTATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0178 a0001c0019t0001g0178	1	383	0.0026	625	c.-42 others(636): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA TACTTGTATATATATATACAAGTATATATATACTTGTATACATATATACT ATATATATACATATATACACATATATACGTATATATATGTATATATACAT ATATACGTGTATATACGTATATACATGTATATACGTATATATACACATAT ATACATGTATATATACGTATATATACACATATATACGTGTATATATACGT ATATATACACATATATACGTGTATATATACATGTATATATACACATATAT ACATGTATATATATACGTATATATACATGTATATATACGTACGTATATAT ACATGTATATATACGTACGTATATATATACGTATATATACGTATATATAC ATATATACGTATATATATATACGTATATATACATATATACGTATATATAT ATACGTATATATACATATATACGTATATATATACGTATATATACATATAT ACGTATATATATATACGTATATATACATATATACGTATATATATATACGT ATATATACATATATACATGTATATATATATACGTATATACACATATATAT ACATGTATATATATGTGTATATATACATGTATATATACACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(618): Show GTATATATACATGTATATATATACAAGTATATATATACTTGTATATATAT ATACAAGTATATATATACTTGTATACATATATACTATATATATACATATA TACACATATATACGTATATATATGTATATATACATATATACGTGTATATA CGTATATACATGTATATACGTATATATACACATATATACATGTATATATA CGTATATATACACATATATACGTGTATATATACGTATATATACACATATA TACGTGTATATATACATGTATATATACACATATATACGTGTATATATATA CGTATATATACATGTATATATACGTACGTATATATACATGTATATATACG TACGTATATATATACGTATATATACACATATATACATATATACGTATATA TATATACGTATATATACATATATACGTATATATATACGTATATATACATA TATACGTATATATATACGTATATATACATATATACGTATATATATATACG TATATATACATATATACATGTATATATATATACGTATATATACATATATA CATGTATATATATATACGTATATACACATATATATACATGTATATATATG TGTATATATACATGTATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02572.hp2 HG02717.hp2 others(4): Show HG02145.hp1 HG02572.hp2 HG02717.hp2 NA18940.hp1 NA19003.hp2 NA19005.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0192 a0001c0001t0001g0195 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0198	7	383	0.0183	625	c.-42 others(636): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA TACTTGTATATATATATACAAGTATATATATACTTGTATACATATATACT ATATATATACATATATACACATATATACGTATATATATGTATATATACAT ATATACGTGTATATACGTATATACATGTATATACGTATATATACACATAT ATACATGTATATATACGTATATATACACATATATACGTGTATATATACGT ATATATACACATATATACGTGTATATATACATGTATATATACACATATAT ACGTGTATATATATACGTATATATACATGTATATATACGTACGTATATAT ACATGTATATATACGTACGTATATATATACGTATATATACACATATATAC ATATATACGTATATATATATACGTATATATACATATATACGTATATATAT ACGTATATATACATATATACGTATATATATACGTATATATACATATATAC GTATATATATATACGTATATATACATATATACATGTATATATATATACGT ATATATACATATATACATGTATATATATATACGTATATACACATATATAT ACATGTATATATATGTGTATATATACATGTATATATACACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(618): Show GTATATATACATGTATATATATACAAGTATATATATACTTGTATATATAT ATACAAGTATATATATACTTGTATACATATATACTATATATATACATATA TACACGTATATACGTATATATATGTATATATACATATATACGTGTATATA CGTATATACATGTATATACGTATATATACACATATATACATGTATATATA CGTATATATACACATATATACGTGTATATATACGTATATATACACATATA TACGTGTATATATACATGTATATATACACATATATACATGTATATATATA CGTATATATACATGTATATATACGTACGTATATATACATGTATATATACG TACGTATATATATACGTATATATACACATATATACATATATACGTATATA TATATACGTATATATACATATATACGTATATATATACGTATATATACATA TATACGTATATATATACGTATATATACATATATACGTATATATATATACG TATATATACATATATACATGTATATATATATACGTATATATACATATATA CATGTATATATATATACGTATATACACATATATATACATGTATATATATG TGTATATATACATGTATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01515.hp1 HG01517.hp2 HG01346.hp1 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	3	383	0.0078	625	c.-42 others(636): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA TACTTGTATATATATATACAAGTATATATATACTTGTATACATATATACT ATATATATACATATATACACGTATATACGTATATATATGTATATATACAT ATATACGTGTATATACGTATATACATGTATATACGTATATATACACATAT ATACATGTATATATACGTATATATACACATATATACGTGTATATATACGT ATATATACACATATATACGTGTATATATACATGTATATATACACATATAT ACATGTATATATATACGTATATATACATGTATATATACGTACGTATATAT ACATGTATATATACGTACGTATATATATACGTATATATACACATATATAC ATATATACGTATATATATATACGTATATATACATATATACGTATATATAT ACGTATATATACATATATACGTATATATATACGTATATATACATATATAC GTATATATATATACGTATATATACATATATACATGTATATATATATACGT ATATATACATATATACATGTATATATATATACGTATATACACATATATAT ACATGTATATATATGTGTATATATACATGTATATATACACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ABCB11_chr2_168915781_169036324	168975232	T T	TTTATATA others(619): Show TTTATATATTTATATATTTATATATTCATAGATAAATATATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAA TATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATA AATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAA TATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATA AATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAA TATATAAATATTTTTATATTTATAGATAAATATATAAATATATAAATATT TTTATATTTATAGATAAATATATAAATATATAAATATTTTTATATTTATA GATAAATATATAAATATTTATATATTTTTATATTTATAGATAAATATATA AATATTTATATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0088 a0003c0013t0001g0088	1	306	0.0033	626	c.130 others(645): Show c.1308+1344_1308+1345insCTATAAATATAAAAATATATAAATAT TTATATATTTATCTATAAATATAAAAATATATAAATATTTATATATTTAT CTATAAATATAAAAATATTTATATATTTATATATTTATCTATAAATATAA AAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATATATTTATCTATAAATATAAAAATAT TTATATATTTATATATTTATCTATGAATATATAAATATATAAATATATAA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ADGRB3_chr6_68630282_69394506	69100947	A A	AAGGAGAG others(619): Show AAGGAGAGAGGGAAGAAGGCAGGGAGGGAAGGAGGGAGGGAAGGAAGAAA GGAAGGAGGGAGGGAGGGAAGGAAGGGAGGGAGGGAGGGAAGGAAGGAGG GAAGGAAGGAAGGAGGGAGTGAAGGAAGGCAGGGAGTGAGGGAGGGAGGA AAGGAAGGGACGAAGGAAGGAAGGAAGAAGGGAGGGAGGGAAGGAAGGAA GGAAGGAAGAAGGAAGGGAGGGAAGGAAGGAAGGAAGAAGCGAGGGAGGG AAGGAAGGAAGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAGAGAGGGAA GAAGGCAGGGAGGGAAGGAGGGAGGGAAGGAAGAAAGGAAGGAGGGAGGG AGGGAAGGAAGGAGGGAGGGAGGGAAGGAAGGAGGGAAGGAAGGAAGGAG GGAGTGAAGGAAGGAAGGCAGGGAGTGAGGGAGGGAGGAAAGGAAGGGAC GAAGGAAGGAAGAAGGGAGGGAGGGAAGGAAGGAAGGAGGAAGGGAAGGA AGAAAGGAAGGAGGAAGGGAAGGAAGGAGGAAGGGAAGGAAGGAGGAAGG GAAGGAAGGAGGAAGGGAAGGAAGGAAGGGAGGAAGGAAGGAAGAAGGGA GCGAGGGAGGGAGGGAAGGAAGGAGGG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03654.hp1 HG02895.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0091 a0001c0001t0002g0093 a0001c0001t0001g0091 a0001c0001t0002g0093	2	120	0.0167	626	c.248 others(647): Show c.2480+24910_2480+24911insGGAGAGAGGGAAGAAGGCAGGGAG GGAAGGAGGGAGGGAAGGAAGAAAGGAAGGAGGGAGGGAGGGAAGGAAGG GAGGGAGGGAGGGAAGGAAGGAGGGAAGGAAGGAAGGAGGGAGTGAAGGA AGGCAGGGAGTGAGGGAGGGAGGAAAGGAAGGGACGAAGGAAGGAAGGAA GAAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGAAGGAAGGGAGGGAAGG AAGGAAGGAAGAAGCGAGGGAGGGAAGGAAGGAAGGAGGGAGGGAGGGAA GGAAGGAAGGAAGGAGAGAGGGAAGAAGGCAGGGAGGGAAGGAGGGAGGG AAGGAAGAAAGGAAGGAGGGAGGGAGGGAAGGAAGGAGGGAGGGAGGGAA GGAAGGAGGGAAGGAAGGAAGGAGGGAGTGAAGGAAGGAAGGCAGGGAGT GAGGGAGGGAGGAAAGGAAGGGACGAAGGAAGGAAGAAGGGAGGGAGGGA AGGAAGGAAGGAGGAAGGGAAGGAAGAAAGGAAGGAGGAAGGGAAGGAAG GAGGAAGGGAAGGAAGGAGGAAGGGAAGGAAGGAGGAAGGGAAGGAAGGA AGGGAGGAAGGAAGGAAGAAGGGAGCGAGGGAGGGAGGGAAGGAAGGAGG GA	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	17/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADPRHL1_chr13_113394611_113458488	113418980	T T	TTCCCTCC others(619): Show TTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT TCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCC CTCCCTCCCTCCCTCCCTCTCTCCCTCCCTTCCTTTCTTCCCCTTCCCCT CCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTTC CTTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCC TCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTT TCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCC TCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCC TTCCCCTCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCCTTCC TTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCTTC ACTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCC TCCCTTCCCTTCCTTCTTTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0014 a0013c0016t0014	a0013c0016t0014g0101 a0013c0016t0014g0101	1	262	0.0038	626	c.106 others(645): Show c.1061+3845_1061+3846insGGGAAGGAAAAGAAGGAAGGGAAGGG AGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAG TGAAGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGA AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGA AGGAAGGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGAGGGGA AGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGG AGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAG AAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAGGG AGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAA GGAAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGG GAGGGGAAGGGGAAGAAAGGAAGGGAGGGAGAGAGGGAGGGAGGGAGGGA GGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGG AAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ATP9B_chr18_79064394_79383283	79200703	T T	TGTCAGAG others(619): Show TGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGG AGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGG GTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGA GGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGG TCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGAACGTTGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGGACTGTCGGG	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	298	0.0034	626	c.955 others(643): Show c.955-6211_955-6210insAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG AACGTTGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGC AGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
C17orf67_chr17_56786913_56838920	56792709	A A	ATGGTGAT others(619): Show ATGGTGATGATGGGGTGATGGTGATGGTGGTGAGAGTGGTGGTGGGGGTG GTAGTGGTGGAGATGGAGGTAGTGGTGATGGTGACGATGGTAGTGATGGT GGTGGTGGTGGTGGTGGTGGTGACAGTGATGATGATGGTGAGAGTGGTGG TGGTGGTGGTCATGGTGGTGGTGGTGGTGGTGGTGATGGTAATGATGGGG GTGACGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGGTGATGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGATAG TGATGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGATGATG GTGGTGATGGTGGTGGTGGTGATGGTGGTGACGGTGATGGTGGTGATGGT GGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGATGG TGGTGATGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGATGGTG GTGATGGTGATGGTGGCAGTGATGGTGGTGATGGTGGTGGTGGTGATGGT GATGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGATGGTGATGG TGGTGGTGGTGATGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	292	0.0034	626	c.21 others(641): Show c.21-358_*21-357insCCACCACCACCACCATCACCACCACCACCA TCACCATCACCACCACCATCACCACCATCACCACCATCACCACCATCACC ATCACCACCACCACCATCACCACCATCACTGCCACCATCACCATCACCAC CATCACCACCATCACCACCATCATCACCACCACCACCACCATCACCACCA TCATCACCATCACCACCACCACCACCACCACCATCACCATCACCACCACC ATCACCACCATCACCGTCACCACCATCACCACCACCACCATCACCACCAT CATCACCATCACCACCACCATCACCACCACCATCACCACCATCATCACTA TCACCACCATCACCACCATCATCACCACCACCACCACCACCATCACCACC ACCATCACCACCATCACCATCACCACCATCATCACCACCACCGTCACCCC CATCATTACCATCACCACCACCACCACCACCACCATGACCACCACCACCA CCACTCTCACCATCATCATCACTGTCACCACCACCACCACCACCACCACC ATCACTACCATCGTCACCATCACCACTACCTCCATCTCCACCACTACCAC CCCCACCACCACTCTCACCACCATCACCATCACCCCATCATCACCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
C20orf96_chr20_265863_295750	279069	A A	AGGGAGGG others(619): Show AGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAG GGAGGGACGGAGGGCGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGG AGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGAC GGAGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGG AGGGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAG GGACGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAGGG CGGGACGGCGGGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGGACGGAG GGCGGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGG ACGGAGGGAGGGAGGGAGGGAGGGACGGAGGGACGGAGGGAGGGAGGGAG GGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGC GGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGG GCGGAGGGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGAGGGATGGAG GGAGGGAGGGCGGGACGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18970.hp1 NA18964.hp2 NA18970.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0184 a0002c0006t0001g0185 a0002c0006t0001g0184 a0002c0006t0001g0185	2	410	0.0049	626	c.465 others(641): Show c.465+102_465+103insGCCCTCCCTCCGTCCCGCCCTCCCTCCCTC CATCCCTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCT CCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCC CTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTC CCTCCCTCCCTCCGTCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCC GCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCGCCCTC CGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCC TCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTC CGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCG TCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCTCCGTC CCGCCCTCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCC TCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCCTCCGTCCCTCCCTC CCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C2CD4C_chr19_400445_414147	404337	T T	TGAGGGGT others(619): Show TGAGGGGTGTGGGGGGGACGGGGCCCTGTCCTGAGGGGTGTGAGGGGGGG GACGGGGCCCTGTCCTGAGGGGTCTGAGGGGGGGACGGGGCCCTGTCCTG AGGGGTGTGAGGGGGAGACGGGTCCTGCCCCGAGGGGTGTGAGGGGGAGA CGGGGTCCTGCCCCGAGGGGTCTGAGGGGGGGACGGGGTCCTGCCCCGAG GGGTCTGAGGGGGGGACGGGGTCCTGCCCCGAGGGGTGTGGGGGGGGGAC GGGGCCCTGTCCTGAGGGGTGTGAGGGGGGGGACGGGGCCCTGTCCTGAG GGGTCTGAGGGGGGGACGGGGCCCTGTCCTGAGGGGTGTGAGGGGGAGAC GGGTCCTGCCCCGAGGGGTGTGAGGGGGGGACGGGGTCCTGCCCCGAGGG GTGTGAGGGGGGGGACGGGGCCCTGTCCCGAGGGGTCTGAGGGGGGGACG GGTCCTGCCCCGAGGGGTGTGAGGGGGGGACGGGGTCCTGCCCCGAGGGG TGTGAGGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGAGGGGGGGGACG GGGTCCTGCCCTGAGGGGTCTGAGGGGGGGACGGGTCCTGCCCCGAGGGG TGTGGGGGGGGGACGGGGTCCTGTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0011 a0001c0001t0009g0011	1	322	0.0031	626	c.27 others(637): Show c.2758_*2759insGGGACAGGACCCCGTCCCCCCCCCACACCCCTCG GGGCAGGACCCGTCCCCCCCTCAGACCCCTCAGGGCAGGACCCCGTCCCC CCCCTCACACCCCTCAGGGCAGGACCCCGTCCCCCCCCTCACACCCCTCG GGGCAGGACCCCGTCCCCCCCTCACACCCCTCGGGGCAGGACCCGTCCCC CCCTCAGACCCCTCGGGACAGGGCCCCGTCCCCCCCCTCACACCCCTCGG GGCAGGACCCCGTCCCCCCCTCACACCCCTCGGGGCAGGACCCGTCTCCC CCTCACACCCCTCAGGACAGGGCCCCGTCCCCCCCTCAGACCCCTCAGGA CAGGGCCCCGTCCCCCCCCTCACACCCCTCAGGACAGGGCCCCGTCCCCC CCCCACACCCCTCGGGGCAGGACCCCGTCCCCCCCTCAGACCCCTCGGGG CAGGACCCCGTCCCCCCCTCAGACCCCTCGGGGCAGGACCCCGTCTCCCC CTCACACCCCTCGGGGCAGGACCCGTCTCCCCCTCACACCCCTCAGGACA GGGCCCCGTCCCCCCCTCAGACCCCTCAGGACAGGGCCCCGTCCCCCCCC TCACACCCCTCAGGACAGGGCCCCGTCCCCCCCACACCCCTC	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1107		chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1185709	T T	TGCGTAGG others(619): Show TGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGTGGGCGAGTAGACGGCA TGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCG TAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGCGTGCA TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGG GGCCGGAGGCGGGGTGTGTATGGGGCAGGTGAGTAGACGGCGTGCATAGG GGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAG GCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAG GCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGG GGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCTGGAGGCGG GGTGTGTACGGGGCGGGTGAGTAGACG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0022 a0003c0022	a0003c0022t0028 a0003c0022t0028	a0003c0022t0028g0026 a0003c0022t0028g0026	1	338	0.0030	626	c.300 others(643): Show c.300-9241_300-9240insACGTGGGGGGTGGGCGAGTAGACGGCAT GTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGCGTGCAT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGG GCCGGAGGCGGGGTGTGTATGGGGCAGGTGAGTAGACGGCGTGCATAGGG GCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCG GAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGG CGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCG GAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGG CGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGG CGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGG GTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCTGGAGGCGGG GTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185709	T T	TGCGTAGG others(619): Show TGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGTGGGCGAGTAGACGGCA TGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCG TAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGCGTGCA TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGG GGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGCGTGCATAGG GGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAG GCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAG GCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAG GCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGG GGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCTGGAGGCGG GGTGTGTACGGGGCGGGTGAGTAGACG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0029 a0029	a0029c0065 a0029c0065	a0029c0065t0007 a0029c0065t0007	a0029c0065t0007g0202 a0029c0065t0007g0202	1	338	0.0030	626	c.300 others(643): Show c.300-9241_300-9240insACGTGGGGGGTGGGCGAGTAGACGGCAT GTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGCGTGCAT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGG GCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGCGTGCATAGGG GCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCG GAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGG CGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCG GAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGG CGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGG CGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGG GTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCTGGAGGCGGG GTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGT	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALN1_chr7_71774491_72417338	72209170	T T	TTCCTTCC others(619): Show TTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTTTCCCTCCTTCC CTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTT CCGTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCC TTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTT CCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCC CTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCT CCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCC TTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTT CCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCC CTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCT CCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCC CTCCTTCCCTCTTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCT CCTTCCCTCCTTCCCTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0081 a0001c0001t0016g0081	1	142	0.0070	626	c.244 others(645): Show c.244+69515_244+69516insGGGAAGGAAGGAGGGAAGGAGGGAAG GAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAAGAGGGAAGGA GGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAG GAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGA GGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGG GAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGA AGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAG GAGGGAAGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGA GGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGG GAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAAGGA AGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGACG GAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAAGA GGGAAGGAGGGAAAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAMKK2_chr12_121232692_121301709	121255222	A A	ATATATAT others(619): Show ATATATATATAATTATATATATATAATTATATATATAATTTTATATATAT ATAATTATATATATAATTTTTATATATATATAATTATATATATTTATATA TATATAATTATATATATATATAAAATTATATATATAATTATATATATTAT ATATAATTATATATATAATTTTATATATATAATTATATATATTTATATAT ATATATATAATTATATATATATATAAAATTATATATATAATTATATATAT ATTATATATAATTATATATATATATTATATATAATTTTATATATATAATT ATATATATAATTTTATATATATAATTTTATATATATAATTTTATATATAT AATTTTATATATATAATTATATATATAATTTTATATATATATAATTATAT ATATAATTTTATATATATATAATTATATATATAATTTTATATATATATAA TTATATATATAATTTTATATATATATAATTATATATATAATTTTATATAT ATATAATTATATATATAATTATATATATAATTTTATATATATAATTATAT ATATAATTTTATATATATATAATTATATATATAATTTTATATATATAATT ATATATATAATTTTATATATATATAAT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0239 a0002c0004t0007g0239	1	330	0.0030	626	c.907 others(641): Show c.907+327_907+328insATTATATATATATAAAATTATATATATAAT TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATAAAATTATATATATAATTATATATATAATTATATATA TATAAAATTATATATATAATTATATATATATAAAATTATATATATAATTA TATATATATAAAATTATATATATAATTATATATATATAAAATTATATATA TAATTATATATATATAAAATTATATATATAATTATATATATAAAATTATA TATATAAAATTATATATATAAAATTATATATATAAAATTATATATATAAT TATATATATAAAATTATATATAATATATATATATAATTATATATAATATA TATATAATTATATATATAATTTTATATATATATATAATTATATATATATA TATAAATATATATAATTATATATATAAAATTATATATATAATTATATATA ATATATATAATTATATATATAATTTTATATATATATATAATTATATATAT ATAAATATATATAATTATATATATATAAAAATTATATATATAATTATATA TATATAAAATTATATATATAATTATATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CCDC57_chr17_82096470_82217842	82215658	G G	GCCCCCAC others(619): Show GCCCCCACACTGCAGCAACCCTCCCCCTCCTTCCCTGCCCCCCACACTGC AGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCC TCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCC CCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGC ACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTC CTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCT TCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCA CACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCC CTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCC CTGCCCCCACACTGCAGCACCCCTCCCCTTCCTTCCCTGCCCCCCACACT GCAGCACCCCTCCCCCTCCTTCCCTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	252	0.0040	626	c.-28 others(637): Show c.-2883_-2882insGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGG GGGGCAGGGAAGGAAGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGA GGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCT GCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG GCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGG GGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCA GTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCA GGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGG AGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAG TGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGG GAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAG GGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGT GGGGGGCAGGGAAGGAGGGGGAGGGTTGCTGCAGTGTGGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2817		chr17	TogoVar
CCDC57_chr17_82096470_82217842	82215658	G G	GCCCCCAC others(619): Show GCCCCCACACTGCAGCACCCCTCTCTCTCAACAACAACAACGGAGGAGGA GGAAAAGAGAGAGATCTCTCTCTCAACAACAACAACGGAGGAGGGAGGAA AAGAGAGAGATCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCC CCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGC ACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTC CTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCT TCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCA CACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCC CTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCC CTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACT GCAGCACCCCTCCCCCTCCTTCCCTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	252	0.0040	626	c.-28 others(637): Show c.-2883_-2882insGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGA GGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCT GCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG GCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGG GGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCA GTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCA GGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGG AGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAG TGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGG GAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGATCTCTCTCTTTTCCTCC CTCCTCCGTTGTTGTTGTTGAGAGAGAGATCTCTCTCTTTTCCTCCTCCT CCGTTGTTGTTGTTGAGAGAGAGGGGTGCTGCAGTGTGGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2817		chr17	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(619): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCC TCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCC CCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGC ACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTC CTTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCAC CCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTT CCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCA CACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCC TCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCC TGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACAC TGCAGCACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	252	0.0040	626	c.-29 others(637): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGG GGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGC AGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAG GGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGG AGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAG TGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGG GAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGGA GGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGT GTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(619): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCC TTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCAC CCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTT CCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCA CACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCC TCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCC TGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACAC TGCAGCACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	252	0.0040	626	c.-29 others(637): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGG GGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGC AGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAG GGAAGGAGGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGG GAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCA GTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAG GGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGA GGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGT GTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(619): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCC TTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC CACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACC CCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTC CCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCAC ACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCC TCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCC TGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACAC TGCAGCACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	252	0.0040	626	c.-29 others(637): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGGTG CTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGG GCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAG GGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTG CAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCA GGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGG GAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCA GTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAG GGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGA GGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGT GTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCCAC others(619): Show CCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCA GCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCC TCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCC CCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGC ACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTC CTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC CACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCC TTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCAC ACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCT CCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCC TGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACAC TGCAGAACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02647.hp1 HG02886.hp1 others(1): Show HG02572.hp1 HG02647.hp1 HG02886.hp1 HG03139.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0002 a0007c0011t0002	a0007c0011t0002g0015 a0007c0011t0002g0016 a0007c0011t0002g0017 others(1): Show a0007c0011t0002g0015 a0007c0011t0002g0016 a0007c0011t0002g0017 a0007c0011t0002g0018	4	252	0.0159	626	c.-29 others(637): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTTCTGCAGTGTGGG GGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTG CTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGG GAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCA GTGTGGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCA GGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGG AGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAG TGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGG GAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAG GGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTG TGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CCDC6_chr10_59783747_59911556	59882361	G G	GGAGAAGG others(619): Show GGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGCGGGAG AAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAA AGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAA GCCGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGG GGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGCGGGAG AAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGG AAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAG GAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAA GCCGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGG GGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGAGA AGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGA AAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAG CCGGGGGAGAAGGAAAGGAAAGCCGGC	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0084 a0001c0003t0003g0084	1	288	0.0035	626	c.303 others(645): Show c.303+23760_303+23761insGCCGGCTTTCCTTTCCTTCTCCCCCG GCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCT TTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCC TTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCC CCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCGG CTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCCGGCTTT CCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTT TCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCT TCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTC CCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCGG CTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCC TTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCT TCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTC	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC88C_chr14_91266323_91422820	91293498	A A	ACCCGCCA others(619): Show ACCCGCCACAGCTCACTTTCCCATCCTCACGTGCCACAGCTCACCTTCCC ATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAGCTCAC CTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCACA GCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCC GCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCC TCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTC CCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTC ACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCA CAGCTCACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCAC CCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCCCACCTTCCTGT CCCCTCACCTGCCACGGCCCACCTTCCTGTCCCCTCACCTGCCACGGCCC ACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCT GCCACGGCCCACCTTCCTGCCCCCTCG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0001 a0001c0037t0001	a0001c0037t0001g0074 a0001c0037t0001g0074	1	284	0.0035	626	c.411 others(643): Show c.4112+674_4112+675insCGAGGGGGCAGGAAGGTGGGCCGTGGCA GGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTG GGCCGTGGCAGGTGAGGGGACAGGAAGGTGGGCCGTGGCAGGTGAGGGGA CAGGAAGGTGGGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGG TGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTGT GGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTG AGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGG AAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAG GATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCG GGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCT GTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGG TGAGCTCTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATG GGAAGGTGAGCTGTGGCACGTGAGGATGGGAAAGTGAGCTGTGGCGGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CDC42SE2_chr5_131259053_131399672	131278747	C C	CCCCTCCC others(619): Show CCCCTCCCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTC CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTC CCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCCTCCTCTCCCCCT CCCTTCCCCTCCTCTCCCCTCTCCCCT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	256	0.0039	626	c.-45 others(647): Show c.-455+14589_-455+14590insCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCCTC CCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCC CCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTC CCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCT CCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCCT CCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCTCCCCTCCCTCC CC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(619): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGC CCCGCCCCTCCCCTCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	428	0.0023	626	c.217 others(641): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGC CCCGCCCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(619): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCG CCCCGCCCCTCCCCTCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0054 a0003c0003t0001g0054	1	428	0.0023	626	c.217 others(641): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCG CCCCGCCCCTCCCCTCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(619): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCC CGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCC GTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGC CCCGCCCCTCCCCTCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	428	0.0023	626	c.217 others(641): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCC CGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCC GTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGC CCCGCCCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
COL5A1_chr9_134636803_134849843	134714573	T T	TTGGTGAA others(619): Show TTGGTGAAGGTGGTGGTGGAGGTGATTGTGATGGTGTGATGCTGATGAAG GTGGTGGTGGAGGTGATGGTGGTGGTGGTGGTGGAGGCGATGATAGTGGT GGTGGTGGTGATGCTGGTGAAGGTGGTAGTGGAGGTGATGGTAGTGGTGG TGATGCTGGTGGAGGTGGTGATGGAGGTGATTGTGATGGTGTGATGCTGG TGAAGGTGGTGGTGGAGGTGATTGTGGTGGTGGTGGTGGTGGTGGAGGCG ATGATGGTGGTGGTGGTGATGCTGGTGAAGGTGGTAGTGGAGGTGATGGT AGTGCTGGTGATGCTGGTGAAGGTGGTGGTGGAGGTGATTGTGATGGTGT GATGCTGATGAAGGTGGTGGTGGAGGTGATGGTGGTGGTGGTGGTGGAGG CGATGATAGTGGTGGTGGTGGTGATGCTGGTGAAGGTGGTAGTGGAGGTG ATGGTAGTGGTGGTGATGCTGGTGGAGGTGGTGATGGAGGTGATTGTGAT GGTGTGATGCTGGTGAAGGTGGTGGTGGAGGTGATTGTGGTGGTGGTGGT GGTGGTGGAGGCGATGATGGTGGTGGTGGTGATGCTGGTGAAGGTGGTAG TGGAGGTGATGGTAGTGCTGGTGATGC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0028 a0001c0007t0004g0028	1	272	0.0037	626	c.655 others(645): Show c.655-12390_655-12389insCTGGTGATGCTGGTGAAGGTGGTGGT GGAGGTGATTGTGATGGTGTGATGCTGATGAAGGTGGTGGTGGAGGTGAT GGTGGTGGTGGTGGTGGAGGCGATGATAGTGGTGGTGGTGGTGATGCTGG TGAAGGTGGTAGTGGAGGTGATGGTAGTGGTGGTGATGCTGGTGGAGGTG GTGATGGAGGTGATTGTGATGGTGTGATGCTGGTGAAGGTGGTGGTGGAG GTGATTGTGGTGGTGGTGGTGGTGGTGGAGGCGATGATGGTGGTGGTGGT GATGCTGGTGAAGGTGGTAGTGGAGGTGATGGTAGTGCTGGTGATGCTGG TGAAGGTGGTGGTGGAGGTGATTGTGATGGTGTGATGCTGATGAAGGTGG TGGTGGAGGTGATGGTGGTGGTGGTGGTGGAGGCGATGATAGTGGTGGTG GTGGTGATGCTGGTGAAGGTGGTAGTGGAGGTGATGGTAGTGGTGGTGAT GCTGGTGGAGGTGGTGATGGAGGTGATTGTGATGGTGTGATGCTGGTGAA GGTGGTGGTGGAGGTGATTGTGGTGGTGGTGGTGGTGGTGGAGGCGATGA TGGTGGTGGTGGTGATGCTGGTGAAGGTGGTAGTGGAGGTGATGGTAGTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	4/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CROCC2_chr2_240901336_240998311	240924567	C C	CCCCCACA others(619): Show CCCCCACACTAACCCAGCCCCCACACTAACCCAGCCCCCACACTATCCCG GCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTAACCC GGCCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCACACTAAC CCAGCCCCCACACTAACCCGGCCCCCACACTAACCCAGTCCCCACACTAA CCCGGCCCCCCACACTGACCCGGCCCCCCACACTGACCCGGCCCCCCACA CTGACCCAGTCCCCCACACTAACCCGGCCCCCACACTAACCCGGTCCCCA CACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCC CACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGTC CCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCCACACTAACCCGG CCCCCCACACTAACCCGGCCCCCCACACTAACGCAGTCCCCCACACTAAC CCAGTCCCCCACACTAACCCAGCCCCCACACTGACCCGGCCCCCAACACT AACCCAGCCCCCCACACTGACCCAGTCCCCACACTAACCCGGCCCCCACA CTAACCCGGCCCCCCACACTAACCCGG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0013 a0013	a0013c0075 a0013c0075	a0013c0075t0001 a0013c0075t0001	a0013c0075t0001g0178 a0013c0075t0001g0178	1	350	0.0029	626	c.489 others(643): Show c.489-1153_489-1152insACACTAACCCAGCCCCCACACTAACCCA GCCCCCACACTATCCCGGCCCCCACACTAACCCGGCCCCCACACTAACCC AGCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCCACACTAAC CCAGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCACACTAA CCCAGTCCCCACACTAACCCGGCCCCCCACACTGACCCGGCCCCCCACAC TGACCCGGCCCCCCACACTGACCCAGTCCCCCACACTAACCCGGCCCCCA CACTAACCCGGTCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCC ACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTC CCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCGGC CCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACG CAGTCCCCCACACTAACCCAGTCCCCCACACTAACCCAGCCCCCACACTG ACCCGGCCCCCAACACTAACCCAGCCCCCCACACTGACCCAGTCCCCACA CTAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
DCDC2_chr6_24166755_24363059	24238180	G G	GGGAGGAA others(619): Show GGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAATGAAGG GAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGA GGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGG AGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG GGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAG GGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAGGGGGAGGGGGAGGGGA AGGGGAAGGGGAGGGGGAGGGGAAGGGGGAGACAGAGGGGAGGGGGAGGG GAAGGGGGAGACAGAGGGGAGGGGGAA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	216	0.0046	626	c.923 others(645): Show c.923-33079_923-33078insTTCCCCCTCCCCTCTGTCTCCCCCTT CCCCTCCCCCTCCCCTCTGTCTCCCCCTTCCCCTCCCCCTCCCCTTCCCC TTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCC CCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCC TCCCCCTCCCCTCCCCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCC CTCCCTCCCTCCCTCCATTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTTCATTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DHRSX_chrX_2214506_2505976	2228116	G G	GGGAGGAA others(619): Show GGGAGGAAGGGAGGGAGGGAAGGAGGGAGGGAGGAAGGAGGGAGGGAGGG AGGGAGGAAGGGATGGAGGAAGGGAGGGAGGAAGGGAGGGAGGGAGGGAG GAAGGGAGGGAGGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGAAGGGAGGGAGGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGACGA AGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAAGGAG GGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGGATGGAGGAAGGG AGGGAGGGAGGGAGGAAGGGAGGGAGGGAAGGGAGGGAGGGAGGGAGGAA GGGAGGGAGGGAGGAAGGGAGGGAGGGAAGGGAGGAAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGG AGGAAGGGAGGAAGGGAGGAGGGAGGGAGGAAGGGAGGGAGGAAGGGAGG GAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGGGAGGGA GGGAGGAAGGGAGGGAGGGAAGGGAGGGAGGGAGGGAGGAAGGAAGGGAG GGAGGAAGGGAGGGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0017 a0002c0002t0003g0017	1	50	0.0200	626	c.805 others(643): Show c.805-6888_805-6887insTCCCTCCCTCCCTCCCTCCCTTCCTCCC TCCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCCTCCCTCCCTTCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCTCCCTTCCTCCCTTCCTC CCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTTCCTCCCTTCCCTCCCTCCCTTCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTTCCCTCCCTCCCTTCCTCCCTCCCTCCCTC CCTTCCTCCATCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCC TCCTTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTT CGTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCCTCCCTCCCTTCC TCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCATCCCTTCCTCCCTC CCTCCCTCCCTCCTTCCTCCCTCCCTCCTTCCCTCCCTCCCTTCCTCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DPEP1_chr16_89608642_89643433	89619246	C C	CCCCCCCG others(619): Show CCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGC AGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTC CCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCC CCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCA GCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTC CCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGC CCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCA GCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCC CCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCC CCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCTCTGCAG CCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCC CTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCGCTCCCCTCCCTGCAGCTCCATG	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	250	0.0040	626	c.-10 others(645): Show c.-107+5533_-107+5534insGCTCCCCTCCCTGCAGCTCCATGCCC CCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGC CCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCT CCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCC CCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGC CCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCC TCCCTGCAGCTCCATGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCC CCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCC CCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTC CCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCC TGCTCCCCTCTCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTC CCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTC CCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619397	C C	CCCCCCCG others(619): Show CCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTG CAGCTCCATGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTC CCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGC CCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCA GCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCC CCTCTCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCC CCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCA GCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCC CTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCC CCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAG CCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCC CCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCC CCCCGCTCCCCTCCCTGCAGCTCCCTG	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	250	0.0040	626	c.-10 others(645): Show c.-107+5684_-107+5685insGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCTGCTCCCCTCCCTGCAG CTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCC TCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCC CCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCT CCCTGCCCCCCTGCTCCCCTCTCTGCAGCCCCCTGCCCCCCCGCTCCCCT CCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCC CTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCT CCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTC CCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCC CGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCC CCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCT CCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DYM_chr18_49031387_49465645	49202952	T T	TGGTGGGG others(619): Show TGGTGGGGGTCGGCCCCCGGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGG TGGGGGGGGGGGTCAGCCGCCCGGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CATCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GTGTCGGCCCCCCCGTCCGGCCAGCCGCTCCGTCCGGGAGGGAGGTGGGG GGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGGTCAGCCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCGTCCGGGAGGGAGGTGG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0102 a0001c0001t0003g0102	1	290	0.0035	626	c.162 others(645): Show c.1625+6598_1625+6599insCCACCTCCCTCCCGGACGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGGCTGACCCC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCCACCTCCCTCCCGGACGGAGCGGCTGGCCGGACGGGGGGGCCGACA CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACCGGGCGGCTGACCCCCCCCCCC ACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCCGGGGGCCGACCCCCACC	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	14/17			chr18	TogoVar
EBF2_chr8_25836725_26050413	26005367	A A	AATATATA others(619): Show AATATATAATTATATATAATATATAATTATATATTATATATAATTATATA TTATATATAATTATATATTATATATAATATATAATTATATATTATATATA ATATATAATTATATATAATATATAATATATTATATATTATATATATTATA TAAAATATAATATATTATATATAATTATATATTATATATTATATATAATA TATAATTATATGTTATATATTATATATATTATATATTATATATATATTAT ATATATAATATATATTATATATTAAATTATATATAATATATATTATATAT ATAATTTATATATATAAAATATATTATATATTATATAAATATATATATTT TATATATATAAAATATATATTTTATAATATATAATATAGAAATGTATATT ATATAATATATAATTATATATAATTATATATTATATAATATATATTTCTA TATTATATATTTATAATGTATAATATATAAATATATTATAAATATATATT ATATACTATATAATGCATTATAAATATATTATATTTATATATTATAAATA TATTACATATTTATATATTATATATATAATATATATATTATATATTATAA ATATATTTTATAAAATATAATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0112 a0001c0002t0001g0112	1	220	0.0046	626	c.551 others(645): Show c.551+27717_551+27718insATATATATTATATTTTATAAAATATA TTTATAATATATAATATATATATTATATATATAATATATAAATATGTAAT ATATTTATAATATATAAATATAATATATTTATAATGCATTATATAGTATA TAATATATATTTATAATATATTTATATATTATACATTATAAATATATAAT ATAGAAATATATATTATATAATATATAATTATATATAATTATATATTATA TAATATACATTTCTATATTATATATTATAAAATATATATTTTATATATAT AAAATATATATATTTATATAATATATAATATATTTTATATATATAAATTA TATATATAATATATATTATATATAATTTAATATATAATATATATTATATA TATAATATATATATAATATATAATATATATAATATATAACATATAATTAT ATATTATATATAATATATAATATATAATTATATATAATATATTATATTTT ATATAATATATATAATATATAATATATTATATATTATATATAATTATATA TTATATATAATATATAATTATATATTATATATAATATATAATTATATATA ATATATAATTATATATAATATATAATTATATATTATATATAATTATATAT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EIPR1_chr2_3183970_3382818	3315642	C C	CCCCATCC others(619): Show CCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACC CCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACC ATCACCACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCC CCATCCACAGCCCCTACCACCACCATCACCACCATCCCCATACACACCCC CTACCACCACCATCACCACCATCCCCATCCACAGCCCCTACCACCACCAT CACCACCATCCCCATCCACAGCCCCACCACCATCCTCACCACCATCCCCA TCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCCCTA CCACCACCATCACCACCATCCCCATACACACCCCCTACCACCACCATCAC CACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCCCCATC CACAGCCCCACCACCATCCTCACCACCATCCCCATCCACACCCCCTACCA CCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCAC CATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCAC ACCCCCTACCACCACCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01175.hp1 HG02965.hp2 HG00733.hp1 HG01175.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0046 a0001c0001t0003g0068 a0001c0001t0003g0131 a0001c0001t0001g0046 a0001c0001t0003g0068 a0001c0001t0003g0131	3	250	0.0120	626	c.259 others(645): Show c.259+22374_259+22375insATGGTGGTGATGGTGGTGGTAGGGGG TGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGAT GGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTG GTGGTAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTGGGGCTGT GGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGT GGTGATGGTGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGATGGTGGTG GTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGG ATGGGGATGGTGGTGAGGATGGTGGTGGGGCTGTGGATGGGGATGGTGGT GATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTA GGGGGTGTGTATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATG GGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGA TGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGG GGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EXOC3L4_chr14_103089725_103115559	103109398	T T	TCCCTCCC others(619): Show TCCCTCCCTCCCTCTCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCT CTCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCC CCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGTCCCCGTGTCTCCCTCC CTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCC ACCCTGTCCCCGTGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCAT GTCTCCCTCCTCCCTCCCTCTCCACCCTGTCCCCGTGTCTCCCTCCCTCC CTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCC TGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGTCCCCATGTCT CCCTCCCTCCCTTCCTCTCCACCCTGTCCCCATGTCTCCCTCCCTCCCTC CCTCTCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTG TCCCCGTGTCTCCCTCCCTCCCTCCCTCTCCACCCTGTCCCCGTGTCTCC CTCCCTCCCTCCCTCTCCACCCTGTCCCCATGTCTCCCTCCCTCCCTTCC TCTCCACCCTGTCCCCATGTCTCCCTC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0001 a0002c0025t0001	a0002c0025t0001g0242 a0002c0025t0001g0242	1	404	0.0025	626	c.197 others(643): Show c.1977-631_1977-630insCTCCCTCCCTCTCCACCCTGTCCCCATG TCTCCCTCCCTCCCTCCCTCTCCACCCTGTCCCCATGTCTCCCTCCCTCC CTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCC TGTCCCCGTGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCT CCCTCCTCCCTCCCTCTCCACCCTGTCCCCGTGTCTCCCTCCCTCCCTCC CTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGTC CCCGTGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCT CCTCCCTCCCTCTCCACCCTGTCCCCATGTCTCCCTCCCTCCCTCCCTCT CCACCCTGTCCCCATGTCTCCCTCCCTCCCTTCCTCTCCACCCTGTCCCC ATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGTCCCCATGTCTCCCTCCC TCCCTCCCTCTCCACCCTGTCCCCGTGTCTCCCTCCCTCCCTCCCTCTCC ACCCTGTCCCCGTGTCTCCCTCCCTCCCTCCCTCTCCACCCTGTCCCCAT GTCTCCCTCCCTCCCTTCCTCTCCACCCTGTCCCCATGTCTCCCTCCC	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar

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Search Results (Total: 10000 hits)