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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⚠️ 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
SCGB1C1_chr11_188078_199575	196113	C C	CTGGTGAG others(539): Show CTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGG ACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGG GACATAGGGGGGCCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGG GACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGAACATGGGTGG GGAGCCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTG AGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGCGGACCTGGT GAGGGGACATGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGG GGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGA GGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTG AGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGG GGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	354	0.0028	546	c.16 others(557): Show c.1663_*1664insTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGG GGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAG GGGACCTGGTGAGGGGACATAGGGGGGCCTTGGTGAGGGGACCTGGTGAG GGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGA GGGGAACATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTGAGGGGACATG GGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTG GTGAGCGGACCTGGTGAGGGGACATGGGGACCTTGGTGAGGGGACCTGGT GAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGG GGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGG TGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTG GTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACA TGGGGGGGACCT	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1539		chr11	TogoVar
SCNN1D_chr1_1275436_1297025	1289727	C C	CCGTGTCT others(539): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0205 a0001c0009t0001g0205	1	290	0.0035	546	c.166 others(563): Show c.1663-543_1663-542insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEPTIN9_chr17_77276499_77505593	77485059	G G	GGTGAAGG others(539): Show GGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGG CGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGG TGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGGG TGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTG ATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGT GGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGG GGTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGGTGATTGTGATGGTGGTGATGGTGATGGTGGTGATTGGTG TGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATG GGGTGATGGTAATGTGGGTGATGGTGATTGTGGTGGTAGTGGTGGTGATG GTGATGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGGT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0057 a0002c0002t0026g0057	1	150	0.0067	546	c.914 others(563): Show c.914-2362_914-2361insAAGGGGGTGATGGTGATTGTGATGGTGG TGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATT GTGATGGTGGTGATGGGGTGATGGTGGTGATGGGGCGATGGTGGTGATTG TGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGAAGGGG GTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGT GGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGA TTGTGATGGTGGTGATGGGGTGATGGTGGTGATGGGGCGATGGTGGTGAT TGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGATGG TGATGGTGGTGATTGGTGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTG GTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGATTGTG GTGGTAGTGGTGGTGATGGTGATGATTGTGATGGTGGTGAAGGGGGTGAT GGTGGTGATTGTGGTGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77485059	G G	GGTGAAGG others(539): Show GGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGG CGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGG TGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGGGG TGATGGTGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTG ATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGT GGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGG GGTGATGGTGGTGATGGGGCGATGGTGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGGTGATTGTGATGGTGGTGATGGTGATGGTGGTGATTGGTG TGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATTGTGATG GGGTGATGGTAATGTGGGTGATGGTGATTGTGGTGGTAGTGGTGGTGATG GTGATGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGGT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0069 a0002c0002t0022g0069	1	158	0.0063	546	c.860 others(563): Show c.860-2362_860-2361insAAGGGGGTGATGGTGATTGTGATGGTGG TGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATT GTGATGGTGGTGATGGGGTGATGGTGGTGATGGGGCGATGGTGGTGATTG TGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGAAGGGG GTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGT GGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGA TTGTGATGGTGGTGATGGGGTGATGGTGGTGATGGGGCGATGGTGGTGAT TGTGATGGTGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGGTGATGG TGATGGTGGTGATTGGTGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTG GTGGTGGTGATTGTGATGGGGTGATGGTAATGTGGGTGATGGTGATTGTG GTGGTAGTGGTGGTGATGGTGATGATTGTGATGGTGGTGAAGGGGGTGAT GGTGGTGATTGTGGTGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SIGIRR_chr11_400716_419999	410987	A A	AGGGGGGT others(539): Show AGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGAGGGGGGT GCCCAGCTCTGACCATGTCTGGATACAGTCGGCGGGGGGTGCCCAGCTCT GACCATGTCTGGATGCAGTCGGGGGGTGCCCAGCTCTGACCATGTCTGGA TACAGTCGGTGGGGGGTGCCCAGCTCTGACCATGTCTGGATACAGTCGGT GGGGGGGGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGGAG GGGTGCTCAGCTCTGACCATGTCTGGATACAGTCGGTGGGGGGTGCCCAG CTCTGACCATGTCTGGATACAGTCGGTGGGGGGGGGGGGTGCCCAGCTCT GACCATGTCTGAATGCAGTCGGGGGGGGGGGGGGGGTGCCCAGCTCTGAC CATGTCTGAATGCAGTCGGGGAGGGGGGTGCCCAGCTCTGACCATGTCTG GATGCAGTCGGGGGGTGCCCAGCTCTGACCATGTCTGGATGCAGTCGGGC GGGGGGGGTGCTCAGCTCTGACCATGTCTGGATGCAGTCGGGGGGGG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	242	0.0041	546	c.-15 others(563): Show c.-153-961_-153-960insCCCCCCCCGACTGCATCCAGACATGGTC AGAGCTGAGCACCCCCCCCGCCCGACTGCATCCAGACATGGTCAGAGCTG GGCACCCCCCGACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCCTCC CCGACTGCATTCAGACATGGTCAGAGCTGGGCACCCCCCCCCCCCCCCCG ACTGCATTCAGACATGGTCAGAGCTGGGCACCCCCCCCCCCCACCGACTG TATCCAGACATGGTCAGAGCTGGGCACCCCCCACCGACTGTATCCAGACA TGGTCAGAGCTGAGCACCCCTCCCCGACTGCATCCAGACATGGTCAGAGC TGGGCACCCCCCCCCCCCCACCGACTGTATCCAGACATGGTCAGAGCTGG GCACCCCCCACCGACTGTATCCAGACATGGTCAGAGCTGGGCACCCCCCG ACTGCATCCAGACATGGTCAGAGCTGGGCACCCCCCGCCGACTGTATCCA GACATGGTCAGAGCTGGGCACCCCCCTCCCCGACTGCATCCAGACATGGT CAGAGCTGGGCACCCCCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding	1/9			chr11	TogoVar
SLC24A3_chr20_19207642_19727926	19663437	C C	CTCCTCCA others(539): Show CTCCTCCACTTCCTCCTCCACCTCCTCCTCTACCTCCTCCACCTCCTCCT CCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCC TCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTC CTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCT CCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACC TCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTC CTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCT CCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCC TCCTCCACCTCCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTC CTCCTCCACCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCACCTCCTCCT CCTCCTCCACCTCCTCCTCCACCTCCACCTCCACCTCCTCCTCCACT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02622.hp2 HG02572.hp2 HG02622.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0001 a0002c0002t0001 a0001c0004t0001 a0002c0002t0001	a0001c0004t0001g0037 a0002c0002t0001g0117 a0001c0004t0001g0037 a0002c0002t0001g0117	2	160	0.0125	546	c.688 others(563): Show c.688-2426_688-2425insCCTCCACTTCCTCCTCCACCTCCTCCTC TACCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCT CCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCC TCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTC CTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCT CCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCC TCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCAC CTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCT CCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCACCT CCACCTCCTCCTCCACTT	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC2A9_chr4_9821224_10026497	9981278	G G	GGTAGTAA others(539): Show GGTAGTAATGATGGTCATGATGGTGATGATGGTGATGGTGGTGATGATGA TGGTAATGTTGATGGCGGTAGCAATAGTGATGATGATGGTGATGGTGATG ATGATGGTAGTGATGGTGGTGGTGGTGGTGCTGGTGATGGTAATGATGGT GATGGTGGTGGTGCTGATGGTGATAATGGTTGTAGCAATGATGATGGTGA TTGTGGTGGTAGTAGTAATGGTGATGATAGTGATGGTGATGGTGGTGGTG CTGATGGTGATGATGGTTGTAGCAATGATGATGGTGATTGTGGTGGTAGT AGTAATGGTGATGATGGTGATGGTGGTGGTGCTGATGGTGATAATGGTTG TAGCAATGATGATGGTGATTGTGGTGGTAGTAGTAATGGTGATGATAGTG ATGGTGATGGTGGTGGTGCTGATGGTGATGATGGTTGTAGCAATGATGAT GGTGATTGTGGTGGTAGTAGTAATGGTGATGATGGTGATGGTGGTGGTGC TGATGGTGATGATGGTTGTAGCAATGATGATGGTGATTGTGGTGGTA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0001 a0004c0002t0001	a0004c0002t0001g0009 a0004c0002t0001g0009	1	336	0.0030	546	c.536 others(561): Show c.536-542_536-541insTACCACCACAATCACCATCATCATTGCTAC AACCATCATCACCATCAGCACCACCACCATCACCATCATCACCATTACTA CTACCACCACAATCACCATCATCATTGCTACAACCATCATCACCATCAGC ACCACCACCATCACCATCACTATCATCACCATTACTACTACCACCACAAT CACCATCATCATTGCTACAACCATTATCACCATCAGCACCACCACCATCA CCATCATCACCATTACTACTACCACCACAATCACCATCATCATTGCTACA ACCATCATCACCATCAGCACCACCACCATCACCATCACTATCATCACCAT TACTACTACCACCACAATCACCATCATCATTGCTACAACCATTATCACCA TCAGCACCACCACCATCACCATCATTACCATCACCAGCACCACCACCACC ACCATCACTACCATCATCATCACCATCACCATCATCATCACTATTGCTAC CGCCATCAACATTACCATCATCATCACCACCATCACCATCATCACCATCA TGACCATCATTACTAC	SLC2A9	ENSG00000109667.12	transcript	ENST00000264784.8	protein_coding	4/11			chr4	TogoVar
SNTG2_chr2_945849_1372613	965203	C C	CTTGGACC others(539): Show CTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCA ATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCT GGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGG ACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCT CCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCC CCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTC CTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCA ATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCT GGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0100 a0003c0008t0001g0100	1	190	0.0053	546	c.72+ others(563): Show c.72+14136_72+14137insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGG TCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCT CCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGAC CCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCT CCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGG TCCCCAGTCCTCCTCCTT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	965203	C C	CTTGGACC others(539): Show CTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCA ATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCT GGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGG ACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCT CCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCC CCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCT CCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCA ATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCT GGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0115 a0001c0002t0001g0115	1	190	0.0053	546	c.72+ others(563): Show c.72+14136_72+14137insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGG TCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCT CCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGAC CCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCC TCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGG TCCCCAGTCCTCCTCCTT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	965203	C C	CTTGGACC others(539): Show CTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCA ATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCT GGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGG ACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCT CCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCC CCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCT CCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCC AATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCC TGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02280.hp1 HG03927.hp2 others(2): Show HG00438.hp1 HG02280.hp1 HG03927.hp2 HG03942.hp1 NA20129.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0006c0009	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0006c0009t0001	a0001c0001t0001g0057 a0001c0002t0001g0087 a0002c0003t0001g0093 others(2): Show a0001c0001t0001g0057 a0001c0002t0001g0087 a0002c0003t0001g0093 a0002c0003t0001g0185 a0006c0009t0001g0094	5	190	0.0263	546	c.72+ others(563): Show c.72+14136_72+14137insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGG TCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCT CCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGAC CCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCC TCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCC AGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCC TTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGG TCCCCAGTCCTCCTCCTT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1221594	C C	CTGCCTCT others(539): Show CTGCCTCTGTCTCTGCCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCTCT CTCTGTCCCTCTCAGTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCTCTGC CTCTGCCTCTCTCTGTCTCTGCCTCTGCCTCTCTCTGTCTCTCTGTCTCT GTCTCTGTCTCTCTCTGTCTCTGCCTCTGTCTCTCTCTTTGTCCCTCTCT GTCTCTGTCTCTCTCTGTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCCCT CTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCGCTGTCTCTGCCTCTGTCT CTGTCTCTCTCCGTCTCTCTCTGTCTCTCTCTGTCTCTGTCTCTCTCTGT CTCTCTCTGTCTCTCTCTGTCTCTGCCTATCTCTGTCTCTGTCTCTCTCT GTCTCTGTCTCTCTCTGTCTCTGCCTCTCTCTGTCTCTGTCTCTCTCTGT CTCTGCCTCTGTCTCTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGT CTCTGTCTCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG01081.hp1 others(11): Show HG00099.hp2 HG00140.hp1 HG01081.hp1 HG01192.hp2 HG01346.hp1 HG02293.hp2 HG02300.hp1 HG03490.hp1 HG03942.hp1 HG04115.hp2 NA18943.hp1 NA18984.hp2 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0125 others(11): Show a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0125 a0001c0001t0001g0141 a0001c0001t0001g0173 a0001c0002t0001g0010 a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0087 a0001c0002t0001g0112 a0001c0002t0001g0186	14	190	0.0737	546	c.719 others(565): Show c.719+12365_719+12366insGCCTCTGTCTCTGCCTCTCTGTGTCT CTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCTCTCAGTCTCTGGTTTTGT CTCTGTCTCTCTCTGTCTCTGCCTCTGCCTCTCTCTGTCTCTGCCTCTGC CTCTCTCTGTCTCTCTGTCTCTGTCTCTGTCTCTCTCTGTCTCTGCCTCT GTCTCTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCT AGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTCTCT GTCGCTGTCTCTGCCTCTGTCTCTGTCTCTCTCCGTCTCTCTCTGTCTCT CTCTGTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTGCCT ATCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTCTCTGTCTCTGCCTCT CTCTGTCTCTGTCTCTCTCTGTCTCTGCCTCTGTCTCTCTCTTTGTCCCT CTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTAGCTCTGCCTCTGTTAGT CCCTCTCTGTCTCTCCCTGT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX9_chr6_157818246_157950077	157827544	T T	TTATAGTT others(539): Show TTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATA AATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATAT AATATATAAATATATATTATAGTTTATATAATATATAAATATATATTATA GTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAATAT ATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATAT ATAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTA TATAATATATAAATATATATTATAGTTTATATAATATATAAATATATATT ATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAA TATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAA TATATAAATATATATTATAGTTTATATAATATATAAATATATATTATAGT TTATATAATATATAAATATATATTATAGTTTATATAATATATAAATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02056.hp1 NA18990.hp2 HG00438.hp2 HG02056.hp1 NA18990.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0014	3	302	0.0099	546	c.12+ others(561): Show c.12+4102_12+4103insGTTTATATAATATATAAATATATATTATAG TTTATATAATATATAAATATATATTATAGTTTATATAATATATAAATATA TATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATA TAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTAT ATAATATATAAATATATATTATAGTTTATATAATATATAAATATATATTA TAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAAT ATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAAT ATATAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTT TATATAATATATAAATATATATTATAGTTTATATAATATATAAATATATA TTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATA AATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATAT AATATATAAATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPATA6_chr1_48290373_48477204	48384325	G G	GGAGGGAG others(539): Show GGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0097 a0004c0004t0002g0097	1	322	0.0031	546	c.909 others(561): Show c.909+983_909+984insTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SPIRE2_chr16_89823475_89876319	89852533	C C	CCCATATT others(539): Show CCCATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCGGATCCCA CGGCCCATCTTCCATCCTCCCCCCACCCACCAGATCCCATGGCCCATCTT CCATCCTCCCCCCACGCCCCAGATCCCATGGCCCATCTTCCATCCTCTCC CCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAG ATCCCATGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCCATGGCC CATCTTCCATCCTCCCCCCACCCCCCATATTCCATGGCCCATCTTCCATC CTCCCCCCACCCCCCAGATCCCCTGGCCCATCTTCCATCCTCCCCCCACC CCCCAGATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCC CTGGCCCATCTTCCATCCTCCCCCCACCCACCAGATCCCATGGCCCATCT TCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCCC CCCACCCCCCAGATCCCCTGGCCCATCTTCCATCCTCCCCCAACCCG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	356	0.0028	546	c.646 others(563): Show c.646-1751_646-1750insATATTCCATGGCCCATCTTCCATCCTCC CCCCACCCCCCGGATCCCACGGCCCATCTTCCATCCTCCCCCCACCCACC AGATCCCATGGCCCATCTTCCATCCTCCCCCCACGCCCCAGATCCCATGG CCCATCTTCCATCCTCTCCCCACCCACCAGATCCCATGGCCCATCTTCCA TCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCA CCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCATATT CCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCCTGGCCCAT CTTCCATCCTCCCCCCACCCCCCAGATCCCCTGGCCCATCTTCCATCCTC CCCCCACCCCCCAGATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCAC CAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATG GCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCCTGGCCCATCTTCC ATCCTCCCCCAACCCGCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
TERT_chr5_1248167_1300068	1273500	A A	ACCATCCA others(539): Show ACCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCA CCACATCAGACCCCACGACCACCATCCACAGTCACATCAGACCCCACGAC CGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCAC CACACATCAGACCCCACAACCGCCATCCACAGTCACCACATCAGACCCCA CGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAG TCACATCAGACCCTACGACCGCCATCCACAGTCACCACACATCAGACCCC ACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACA GTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGA CCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATC CACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACAT CAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	392	0.0026	546	c.228 others(565): Show c.2287-1221_2287-1220insCGTGGGGTCTGATGTGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGG CGGTCGTAGGGTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTGATGT GGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGC GGTTGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGACTGTGGATGG TGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGA TGTGTGGTGACTGTGGATGG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1289549	G G	GCCTCACT others(539): Show GCCTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCGCCTCACT CACCCTGCACGTGACAGGGACACCCGGGGGCCGCGCCTCACTCACCCTAC ACGTGACAGGGACACCCGGGGGCCGTGCCTCACTCACCCTGCACGTGACA GGGACACCCGGGGGCCGTGCCTCACTCACCCTGCACGTGACAGGGACACC CGGGGGCCGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGGCC GCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGGCCGCGCCTCA CTCACCCTGCACGTGACAGGGACACCCGGGGGCCGCGCCTCACTCACCCT ACACGTGACAGGGACACCCGGGGACAGTGCCTCACTCACCCTACACGTGA CAGTGACACCCGGGGACCGCGCCTCACTCACCCTACACGTGACAGGGACA CCCGGGGGCCGTGCCTCACTCACCCTGAACGTGACAGGGACACCCGGGGA CGGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGACGGCA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG04199.hp1 NA20905.hp2 HG00639.hp2 HG04199.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118	3	392	0.0077	546	c.157 others(565): Show c.1573+3763_1573+3764insTGCCGTCCCCGGGTGTCCCTGTCACG TGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTTCAGGGT GAGTGAGGCACGGCCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGG CGCGGTCCCCGGGTGTCACTGTCACGTGTAGGGTGAGTGAGGCACTGTCC CCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCGGCCCCCGGGTGT CCCTGTCACGTGCAGGGTGAGTGAGGCGCGGCCCCCGGGTGTCCCTGTCA CGTGTAGGGTGAGTGAGGCGCGGCCCCCGGGTGTCCCTGTCACGTGCAGG GTGAGTGAGGCGCGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGA GGCACGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCACGGC CCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCGGCCCCCGGGT GTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGT CACGTGTAGGGTGAGTGAGG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1290954	T T	TGACAGGG others(539): Show TGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGAG ACACCCGGGGACGGCGCCTCACTCACCCTGCACGGGACAGGGACACCCGG GGACGGCGCCTCACTCACCCTGCACGTGACAGGGACACCCAGGGGCCGTG CCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACGGCACCTCACTC ACCCTGCACGTGACAGAGACACCCGGGGACGGCGCCTCACTCACCCTGCA CGGGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAG GGACACCCGGGGACCGCGCCTCACTCACCCTGCACGTGACAGGGACACCC GGGGGCCGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGGCCG TGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACGGCGCCTCAC TCACCCTGCACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTG CACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG04199.hp1 NA19079.hp2 others(1): Show HG00639.hp1 HG04199.hp1 NA19079.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 others(1): Show a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0002t0001g0092	4	392	0.0102	546	c.157 others(565): Show c.1573+2358_1573+2359insCCGTGCAGGGTGAGTGAGGCGCCGTC CCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTG TCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTC ACGTGCAGGGTGAGTGAGGCACGGCCCCCGGGTGTCCCTGTCACGTGCAG GGTGAGTGAGGCGCGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTG AGGCGCGGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCG TCCCCGGGTGTCCCTGTCCCGTGCAGGGTGAGTGAGGCGCCGTCCCCGGG TGTCTCTGTCACGTGCAGGGTGAGTGAGGTGCCGTCCCCGGGTGTCCCTG TCACGTGCAGGGTGAGTGAGGCACGGCCCCTGGGTGTCCCTGTCACGTGC AGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCCCGTGCAGGGTGAG TGAGGCGCCGTCCCCGGGTGTCTCTGTCACGTGCAGGGTGAGTGAGGCGC CGTCCCCGGGTGTCCCTGTC	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1291620	G G	GCACGTGA others(539): Show GCACGTGACAGAGAAACCCGGGGGCCACGCCTCACTCACCCTGCACGGGA CAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGGGACAGGGACA CCCGGGGATGGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGG CCACACCTCAATCACGCTGCACGGGACAGGGACACCCGGGGACGGCGCCT CACTCACCCTACACGTGACAGGGACACCCGGGGATGGCGCCTCACTCACC CTACACGTGACAGGGACACCCGGGGATGGCGCCTCACTCACCCTACACGT GACAGGGACACCCGGGGGCCACACCTCAATCACGCTGCACGGGACAGGGA CACCCGGGGGCCGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGG GATGGCGCCTCACTCACCCTACACGTGACAGGGACACCCGGGGGCCACAC CTCAATCACGCTGCACGGGACAGGGACACCCGGGGGCCGCGCCTCACTCA CCCTGCACGTGACAGGGACACCCGGGGATGGCGCCTCACTCACCCTA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0199 a0001c0017t0002g0199	1	392	0.0026	546	c.157 others(565): Show c.1573+1692_1573+1693insTAGGGTGAGTGAGGCGCCATCCCCGG GTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCGGCCCCCGGGTGTCCCT GTCCCGTGCAGCGTGATTGAGGTGTGGCCCCCGGGTGTCCCTGTCACGTG TAGGGTGAGTGAGGCGCCATCCCCGGGTGTCCCTGTCACGTGCAGGGTGA GTGAGGCGCGGCCCCCGGGTGTCCCTGTCCCGTGCAGCGTGATTGAGGTG TGGCCCCCGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCCATCCCC GGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCGCCATCCCCGGGTGTCC CTGTCACGTGTAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCCCG TGCAGCGTGATTGAGGTGTGGCCCCCGGGTGTCCCTGTCACGTGTAGGGT GAGTGAGGCGCCATCCCCGGGTGTCCCTGTCCCGTGCAGGGTGAGTGAGG CGCCGTCCCCGGGTGTCCCTGTCCCGTGCAGGGTGAGTGAGGCGTGGCCC CCGGGTTTCTCTGTCACGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
THAP4_chr2_241579405_241642158	241590538	T T	TAATGGGC others(539): Show TAATGGGCACTAGGACACACAGAACTGCCCGGCTGATGATGAGGGGCACT AGGACACTCAGAACTGCCCGGCTGATGATGAGAGGCACTAGGACACTCAG AGCTGCTCGGCTGACGATAATGGGCACTAGGACACACAGAGCTGCTCGGC TGACGATAATGGGCACTAGGACACACAGAACTGCCCGGCTGACGATGATG GGCACTAGGACACTCAGAGCTGCTCGGCTGACGATGATGGGCACTAGGAC ACTCAGAGCTGCTCGGCTGATGATCATGGGCACTAGGACACACAGAGCTG CTCGGCTGATGATGATGGGCACTAGGACACTCAGAGCTGCCCGGCTGATG ATGATGGGCACTAGGACACTCAGAGCTGCCCGGCTGATGATGATGGGCAC TAGGACACTCAGAGCTGCTCGGCTGATGATGATGGGCACTAGGACACTCA GAGCTGCTCGGCTGATGATGATGGGCACTAGGACACACAGAGCTGCTCGG CTGATGAGGGGCACTAGGACACACAGAACTGCCCGGCTGATGATGAG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0165 a0002c0004t0001g0165	1	390	0.0026	546	c.161 others(565): Show c.1615-5814_1615-5813insCTCATCATCAGCCGGGCAGTTCTGTG TGTCCTAGTGCCCCTCATCAGCCGAGCAGCTCTGTGTGTCCTAGTGCCCA TCATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCATCAGC CGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCATCAGCCGGGCAGCTCT GAGTGTCCTAGTGCCCATCATCATCAGCCGGGCAGCTCTGAGTGTCCTAG TGCCCATCATCATCAGCCGAGCAGCTCTGTGTGTCCTAGTGCCCATGATC ATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCGTCAGCCGAGC AGCTCTGAGTGTCCTAGTGCCCATCATCGTCAGCCGGGCAGTTCTGTGTG TCCTAGTGCCCATTATCGTCAGCCGAGCAGCTCTGTGTGTCCTAGTGCCC ATTATCGTCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCTCTCATCATCAG CCGGGCAGTTCTGAGTGTCCTAGTGCCCCTCATCATCAGCCGGGCAGTTC TGTGTGTCCTAGTGCCCATT	THAP4	ENSG00000176946.13	transcript	ENST00000407315.6	protein_coding	5/5			chr2	TogoVar
THAP4_chr2_241579405_241642158	241590682	G G	GGCTGATG others(539): Show GGCTGATGATGATGGGCACTAGGACACACAGAACTGCTCGGCTGACGATG ATGGGCACTAGGACACACAGAGCTGCTCGGCTGACGATGATGGGCACTAG GACACACAGAGCTGCTCGGCTGACGATGATGGGCACTAGGACACTCAGAG CTGCTCGGCTGACGATGATGGGCACTAGGACACACAGAACTGCCCGGCTG ACGATGATGGGCACTAGGACACACAGAACTGCCCGGCTGATGATGATGGG CACTAGGACACTCAGAGCTGCTCGGCTGATGATGATGGGCACTAGGACAC TCAGAGCTGCTCGGCTGACGATGATGGGCACTCGGACACACAGAACTGCC CGGCTGACGATGATGGGCACTAGGACACTCAGAGCTGCTCGGCTGATGAT GATGGGCACTAGGACACTCAGAGCTGCTCGGCTGATGATGATGGGCACTA GGACACACAGAGCTGCCCGGCTGACGATGATGGGCACTAGGACACTCAGA GCTGCTCGGCTGATGATGATGGGCAGTAGGACACTCAGAGCTGCTCA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	390	0.0026	546	c.161 others(565): Show c.1615-5958_1615-5957insTGAGCAGCTCTGAGTGTCCTACTGCC CATCATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCGTCA GCCGGGCAGCTCTGTGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCT CTGAGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGAGTGTCCT AGTGCCCATCATCGTCAGCCGGGCAGTTCTGTGTGTCCGAGTGCCCATCA TCGTCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCATCAGCCGA GCAGCTCTGAGTGTCCTAGTGCCCATCATCATCAGCCGGGCAGTTCTGTG TGTCCTAGTGCCCATCATCGTCAGCCGGGCAGTTCTGTGTGTCCTAGTGC CCATCATCGTCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCGTC AGCCGAGCAGCTCTGTGTGTCCTAGTGCCCATCATCGTCAGCCGAGCAGC TCTGTGTGTCCTAGTGCCCATCATCGTCAGCCGAGCAGTTCTGTGTGTCC TAGTGCCCATCATCATCAGC	THAP4	ENSG00000176946.13	transcript	ENST00000407315.6	protein_coding	5/5			chr2	TogoVar
THAP4_chr2_241579405_241642158	241591138	T T	TCAGAGCT others(539): Show TCAGAGCTGCTCGGCTGATGACGATGGGCACTAGGACACTCAGAGCTGCT CGGCTGATGATGATGGGCACTAGGACACACAGAGCTGCTCGGCTGATGAT GATGGGCACTAGGACACTCAGAGCTGCTCGGCTGATGATGATGGGCACTA GGACACGCAGAGCTGCTCGGCTGATGATGATGGGCAGTAGGACACTCAGA GCTGCCCGGCTGATGATGATGGGCACTAGGACACACAGAACTGCTCGGCT GACGATGATGGGCACTAGGACACACAGAACTGCCCGGCTGACGATGATGG GCACTAGGACACTCAGAGCTGCTCGGCTGACGATGATGGGCACTAGGACA CACAGAGCTGCTCGGCTGACGATGATGGGCACTAGGACACACAGAGCTGC TCGGCTGACGATGATGGGCACTAGGACACTCAGAGCTGCTCGGCTGACGA TGATGGGCACTAGGACACACAGAACTGCCCGGCTGACGATGATGGGCACT AGGACACTCAGAGCTGCTCGGCTGATGATGATGGGCACTAGGACAGA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02886.hp2 HG03130.hp2 HG02818.hp2 HG02886.hp2 HG03130.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0009 a0002c0004t0001g0072 a0002c0004t0001g0009 a0002c0004t0001g0072	3	390	0.0077	546	c.161 others(565): Show c.1615-6414_1615-6413insTCTGTCCTAGTGCCCATCATCATCAG CCGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCGTCAGCCGGGCAGTTC TGTGTGTCCTAGTGCCCATCATCGTCAGCCGAGCAGCTCTGAGTGTCCTA GTGCCCATCATCGTCAGCCGAGCAGCTCTGTGTGTCCTAGTGCCCATCAT CGTCAGCCGAGCAGCTCTGTGTGTCCTAGTGCCCATCATCGTCAGCCGAG CAGCTCTGAGTGTCCTAGTGCCCATCATCGTCAGCCGGGCAGTTCTGTGT GTCCTAGTGCCCATCATCGTCAGCCGAGCAGTTCTGTGTGTCCTAGTGCC CATCATCATCAGCCGGGCAGCTCTGAGTGTCCTACTGCCCATCATCATCA GCCGAGCAGCTCTGCGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCT CTGAGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGTGTGTCCT AGTGCCCATCATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCG TCATCAGCCGAGCAGCTCTG	THAP4	ENSG00000176946.13	transcript	ENST00000407315.6	protein_coding	5/5			chr2	TogoVar
THAP4_chr2_241579405_241642158	241591138	T T	TCAGAGCT others(539): Show TCAGAGCTGCTCGGCTGATGATGATGGGCACTAGGACACTCAGAGCTGCT CGGCTGATGATGATGGGCACTAGGACACACAGAGCTGCTCGGCTGATGAT AATGGGCACTAGGACACTCAGAGCTGCTCGGCTGATGATGATGGGCACTA GGACACGCAGAGCTGCTCGGCTGATGATGATGGGCAGTAGGACACTCAGA GCTGCCCGGCTGATGATGATGGGCACTAGGACACACAGAACTGCTCGGCT GACGATGATGGGCACTAGGACACACAGAACTGCCCGGCTGACGATGATGG GCACTAGGACACTCAGAGCTGCTCGGCTGACGATGATGGGCACTAGGACA CACAGAGCTGCTCGGCTGACGATGATGGGCACTAGGACACACAGAGCTGC TCGGCTGACGATGATGGGCACTAGGACACTCAGAGCTGCTCGGCTGACGA TGATGGGCACTAGGACACACAGAACTGCCCGGCTGACGATGATGGGCACT AGGACACTCAGAGCTGCTCGGCTGATGATGATGGGCACTAGGACAGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18906.hp1 HG03209.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0198 a0001c0002t0001g0199	2	390	0.0051	546	c.161 others(565): Show c.1615-6414_1615-6413insTCTGTCCTAGTGCCCATCATCATCAG CCGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCGTCAGCCGGGCAGTTC TGTGTGTCCTAGTGCCCATCATCGTCAGCCGAGCAGCTCTGAGTGTCCTA GTGCCCATCATCGTCAGCCGAGCAGCTCTGTGTGTCCTAGTGCCCATCAT CGTCAGCCGAGCAGCTCTGTGTGTCCTAGTGCCCATCATCGTCAGCCGAG CAGCTCTGAGTGTCCTAGTGCCCATCATCGTCAGCCGGGCAGTTCTGTGT GTCCTAGTGCCCATCATCGTCAGCCGAGCAGTTCTGTGTGTCCTAGTGCC CATCATCATCAGCCGGGCAGCTCTGAGTGTCCTACTGCCCATCATCATCA GCCGAGCAGCTCTGCGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCT CTGAGTGTCCTAGTGCCCATTATCATCAGCCGAGCAGCTCTGTGTGTCCT AGTGCCCATCATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCA TCATCAGCCGAGCAGCTCTG	THAP4	ENSG00000176946.13	transcript	ENST00000407315.6	protein_coding	5/5			chr2	TogoVar
THAP4_chr2_241579405_241642158	241591138	T T	TCAGAGCT others(539): Show TCAGAGCTGCTCGGCTGATGATGATGGGCACTAGGACACTCAGAGCTGCT CGGCTGATGATGATGGGCACTAGGACACACAGAGCTGCTCGGCTGATGAT GATGGGCACTAGGACACTCAGAGCTGCTCGGCTGATGATGATGGGCACTA GGACACGCAGAGCTGCTCGGCTGATGATGATGGGCAGTAGGACACTCAGA GCTGCCCGGCTGATGATGATGGGCACTAGGACACACAGAACTGCTCGGCT GACGATGATGGGCACTAGGACACACAGAACTGCCCGGCTGACGATGATGG GCACTAGGACACTCAGAGCTGCTCGGCTGACGATGATGGGCACTAGGACA CACAGAGCTGCTCGGCTGACGATGATGGGCACTAGGACACACAGAGCTGC TCGGCTGACGATGATGGGCACTAGGACACTCAGAGCTGCTCGGCTGACGA TGATGGGCACTAGGACACACAGAACTGCCCGGCTGACGATGATGGGCACT AGGACACTCAGAGCTGCTCGGCTGATGATGATGGGCACTAGGACAGA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03453.hp2 HG03471.hp2 HG02622.hp2 HG03453.hp2 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0062 a0002c0005t0001g0153 a0002c0005t0001g0154 a0001c0001t0001g0062 a0002c0005t0001g0153 a0002c0005t0001g0154	3	390	0.0077	546	c.161 others(565): Show c.1615-6414_1615-6413insTCTGTCCTAGTGCCCATCATCATCAG CCGAGCAGCTCTGAGTGTCCTAGTGCCCATCATCGTCAGCCGGGCAGTTC TGTGTGTCCTAGTGCCCATCATCGTCAGCCGAGCAGCTCTGAGTGTCCTA GTGCCCATCATCGTCAGCCGAGCAGCTCTGTGTGTCCTAGTGCCCATCAT CGTCAGCCGAGCAGCTCTGTGTGTCCTAGTGCCCATCATCGTCAGCCGAG CAGCTCTGAGTGTCCTAGTGCCCATCATCGTCAGCCGGGCAGTTCTGTGT GTCCTAGTGCCCATCATCGTCAGCCGAGCAGTTCTGTGTGTCCTAGTGCC CATCATCATCAGCCGGGCAGCTCTGAGTGTCCTACTGCCCATCATCATCA GCCGAGCAGCTCTGCGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCT CTGAGTGTCCTAGTGCCCATCATCATCAGCCGAGCAGCTCTGTGTGTCCT AGTGCCCATCATCATCAGCCGAGCAGCTCTGAGTGTCCTAGTGCCCATCA TCATCAGCCGAGCAGCTCTG	THAP4	ENSG00000176946.13	transcript	ENST00000407315.6	protein_coding	5/5			chr2	TogoVar
THEG_chr19_356747_381026	376846	C C	CTGTGCCC others(539): Show CTGTGCCCCACCCAGCCTCTCCCCCCCCCGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCT CCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAG CCTCTCCCCCTCTGTACCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACC CAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCA CCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCC CCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCC CCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGT GCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0353 a0001c0001t0001g0353	1	370	0.0027	546	c.-87 others(555): Show c.-877_-876insAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGG CTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAG AGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAG AGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGG GAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGTACAG AGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGG CACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGG GCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTG GGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGGAGAGGCTGG GTGGGGCACA	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		821		chr19	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(539): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0325 a0001c0001t0001g0325	1	444	0.0023	546	c.227 others(565): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115639	G G	GGCGAAGG others(539): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0320	1	444	0.0023	546	c.227 others(565): Show c.2277+1629_2277+1630insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115765	G G	GGCGAAGG others(539): Show GGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0375 a0003c0003t0001g0375	1	444	0.0023	546	c.227 others(565): Show c.2277+1503_2277+1504insTCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACT CCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC TCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGC CCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCT CCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115786	G G	GGCGAAGG others(539): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0166 a0001c0001t0003g0166	1	444	0.0023	546	c.227 others(565): Show c.2277+1482_2277+1483insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115870	G G	GGCGAAGG others(539): Show GGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	444	0.0023	546	c.227 others(565): Show c.2277+1398_2277+1399insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCT CCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TOLLIP_chr11_1269371_1314632	1287405	C C	CGCAGCCT others(539): Show CGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGTCTCACCGCCGCACCCT CCCCGCGGCAGCCTCACCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCG CAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCC CCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCTGCCGCA GCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCT GCCGCAGCCTCCCCGCCGCACCCTCCCTGCCGCAGCCTCCCCGCCGCACC CTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCTGCAGCCTCCCCGC CGCACCCTCTCTGTTGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGCCT CCCCGCCGCAGCCTCCCCGCCGCACCCTCTCCGCCGCAGCCTCCCCGCCG CACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCC CCGCCGCACCCTCTCTGCTGCAGCCTCCCTGCCGCACCCTCCCCGTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	348	0.0029	546	c.519 others(563): Show c.519+1218_519+1219insAACGGGGAGGGTGCGGCAGGGAGGCTGC AGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGA GGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGAGAGGGTGCGG CGGGGAGGCTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGGAGG CTGCAACAGAGAGGGTGCGGCGGGGAGGCTGCAGCAGAGAGGGTGCGGCG GGGAGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCAGGGAGGGT GCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCAGA GAGGGTGCGGCGGGGAGGCTGCGGCAGGGAGGCTGCGGCGGGGAGGGTGC GGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGA GGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGG CGGTGAGGCTGCCGCGGGGAGGGTGCGGCGGTGAGACTGCGGCGGGGAGG GTGCGGCGGGGAGGCTGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287437	G G	GCCTCCCC others(539): Show GCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCC GCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACC CTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGC CGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCT CCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCG CAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCC CCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCA GCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCC GCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCCCACCCTCCCCGCCGCAGC CTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGC CCCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAC	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0135 a0001c0002t0002g0135	1	348	0.0029	546	c.519 others(563): Show c.519+1186_519+1187insGTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGGGTGGGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCG GGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGGGGCGGGGAGGCT GCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGG GAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGC GGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGA GGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGG CGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGG CTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCG GGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGT GCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGG GAGGCTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287703	G G	GCCTCCCC others(539): Show GCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCC GCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGC CTCCCCGCCCCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGC CGCAGCCTCCCCGCCGCAGCCTCCCCGCCCCACCCTCCCCGCCGCACCCT CCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCG CACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCC CCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCCCA CCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCC GCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGC CTCCCCGCCGCAGCCTCCCCGCCCCACCCTCCCCGCCGCAGCCTCCCCGC CGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCCCAC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0160 a0001c0002t0002g0160	1	348	0.0029	546	c.519 others(561): Show c.519+920_519+921insGTGGGGCGGGGAGGCTGCGGCGGGGAGGCT GCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGGGGCGGG GAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGC GGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGA GGGTGCGGCGGGGAGGGTGGGGCGGGGAGGCTGCGGCGGGGAGGCTGCGG CGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCG GGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGGGGCGGGGAGGCT GCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGG GAGGGTGGGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGC GGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGA GGGTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930588	C C	CCGGGGTT others(539): Show CCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGG GTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAG GGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAG GCCGGGGTCAGGGAGGCCAGGGGTTAGGGAGGCCTAGGGTTAGGGAGGCC GGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGT TAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGG AGGCCAGGGGTTAGGGAGGCCGGGGTCAGGGAGGCCAGGGGTTAGGGAGG CCTAGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGG GGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTA GGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAG GCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	466	0.0022	546	c.50 others(557): Show c.5002_*5003insCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCT CCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTA ACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCC AGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCT CCCTAACCCTAGGCCTCCCTAACCCCTGGCCTCCCTGACCCCGGCCTCCC TAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAAC CCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAG CCTCCCTAACCCCGGCCTCCCTAACCCTAGGCCTCCCTAACCCCTGGCCT CCCTGACCCCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCT AACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCC CAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCC TCCCTAACCCCG	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4781		chr11	TogoVar
TPO_chr2_1408463_1548673	1526319	A A	ACCGCCTC others(539): Show ACCGCCTCATATTCCCCCCACTGTGTGGACCCTTCTCAAATCCCCCCTAA TGTCAGCAACTTCCCTAAATCCCCCAACTGTGTTCAACCTCCCCAAATCC CTCCCACTGTGTGCAGCCTCCCCAAATCCTCCCGACTCTGTGCAACCTCC CAAAATTGCCCCCACTGTGTGCAACCTCCTCAAATCCCTCCCACTCTGTG CAAACTCCCCAAACCCCCACACTCTGTGCAACCGCCCCATATCCCCCCCA CTCTGTGCAACCTCCCCAAAACACCCCTCAATGTGTGCAACCTCGCCCAA TCACGACACTGTGTGCAATCTCCCCAAATCCCGCCCACTCTTTGCAACCT CGCCAAATCCCCCCCACTCTCTGCAACCTCCCCAAATCACCCCCACTCTC TGTAACCTCCCCAAATCACCCCCACTCTCTGCAACCTCCCCAAATCACCC CCACTCTCTGCAACCTCCCCAAATCACCCCCACTCTCTGCAACCTCCCCA AATCCCTCACACTGTGTGCAACCTCCTCAAATCACCCTACTGTGTGC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	130	0.0077	546	c.261 others(565): Show c.2618+9337_2618+9338insCCGCCTCATATTCCCCCCACTGTGTG GACCCTTCTCAAATCCCCCCTAATGTCAGCAACTTCCCTAAATCCCCCAA CTGTGTTCAACCTCCCCAAATCCCTCCCACTGTGTGCAGCCTCCCCAAAT CCTCCCGACTCTGTGCAACCTCCCAAAATTGCCCCCACTGTGTGCAACCT CCTCAAATCCCTCCCACTCTGTGCAAACTCCCCAAACCCCCACACTCTGT GCAACCGCCCCATATCCCCCCCACTCTGTGCAACCTCCCCAAAACACCCC TCAATGTGTGCAACCTCGCCCAATCACGACACTGTGTGCAATCTCCCCAA ATCCCGCCCACTCTTTGCAACCTCGCCAAATCCCCCCCACTCTCTGCAAC CTCCCCAAATCACCCCCACTCTCTGTAACCTCCCCAAATCACCCCCACTC TCTGCAACCTCCCCAAATCACCCCCACTCTCTGCAACCTCCCCAAATCAC CCCCACTCTCTGCAACCTCCCCAAATCCCTCACACTGTGTGCAACCTCCT CAAATCACCCTACTGTGTGC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16			chr2	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(539): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATACATAAAAATTATATATATATTATATATACA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATAATA TATATATATAAAAATTATATATATATATTATATATATATAAAAATTATAT ATATATATTATATATATATAAAAATTATATATATATATTATATATATATA AAAATTATATATATATATTATATATATATAAAAATTATATATATATATTA TATATATATAAAAATTATATATATATATTATATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	272	0.0037	546	c.29 others(557): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATATATTATATATACATAAAAATTATATA TATATTATATATACATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATAATATATATATATAAAAATTATATATATATATTATATAT ATATAAAAATTATATATATATATTATATATATATAAAAATTATATATATA TATTATATATATATAAAAATTATATATATATATTATATATATATAAAAAT TATATATATATATTATATATATATAAAAATTATATATATATATTATATAT ATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(539): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATACATAAAAATTATATATATATTATATATA CATAAAAATTATATATATATTATATATACATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATAATATATATATATAAAAATTATAT ATATATATTATATATATATAAAAATTATATATATATATTATATATATATA AAAATTATATATATATATTATATATATATAAAAATTATATATATATATTA TATATATATAAAAATTATATATATATATTATATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp2 NA19087.hp2 NA19058.hp2 NA19087.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0001 a0004c0010t0001g0065 a0004c0010t0001g0001 a0004c0010t0001g0065	2	272	0.0074	546	c.29 others(557): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATACATAAAAATTATA TATATATTATATATACATAAAAATTATATATATATTATATATACATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATAATATATAT ATATAAAAATTATATATATATATTATATATATATAAAAATTATATATATA TATTATATATATATAAAAATTATATATATATATTATATATATATAAAAAT TATATATATATATTATATATATATAAAAATTATATATATATATTATATAT ATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(539): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATAATA TATATATATAAAAATTATATATATATATTATATATATATAAAAATTATAT ATATATATTATATATATATAAAAATTATATATATATATTATATATATATA AAAATTATATATATATATTATATATATATAAAAATTATATATATATATTA TATATATATAAAAATTATATATATATATTATATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	272	0.0037	546	c.29 others(557): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATAATATATATATATAAAAATTATATATATATATTATATAT ATATAAAAATTATATATATATATTATATATATATAAAAATTATATATATA TATTATATATATATAAAAATTATATATATATATTATATATATATAAAAAT TATATATATATATTATATATATATAAAAATTATATATATATATTATATAT ATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(539): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATAATATATATATATAAAAATTATAT ATATATATTATATATATATAAAAATTATATATATATATTATATATATATA AAAATTATATATATATATTATATATATATAAAAATTATATATATATATTA TATATATATAAAAATTATATATATATATTATATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 NA19010.hp1 HG02735.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0047 a0001c0001t0001g0004 a0001c0001t0001g0047	2	272	0.0074	546	c.29 others(557): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATAATATATAT ATATAAAAATTATATATATATATTATATATATATAAAAATTATATATATA TATTATATATATATAAAAATTATATATATATATTATATATATATAAAAAT TATATATATATATTATATATATATAAAAATTATATATATATATTATATAT ATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TSHZ2_chr20_52967358_53500330	53204400	C C	CATATAAC others(539): Show CATATAACATTATGATATGATACTATATCATCATATAACATTATGATATG ATACTATATCATCATATAACATTATGATATGATACTATATCATCATATAA CATTATGATATGATACTATATCATCATATAACATTATGATATGATACTAT ATCATCATATAACATTATGATATGATACTATATCATCATATAACATTATG ATATGATACTATATCATCATATAACATTATGATATACTATATCATCATAT AACATTATGATATACTATATCATCATATAACATTATGATATACTATATCA TCATATAACATTATGATATACTATATCATCATATAACATTATGATATGAT ACTATATCATCATATAACATTATGATATGATACTATATCATCATATAACA TTATGATATGATACTATATCATAATATAACATTATGATATGATACTATAT CATAATATAACATTATGATATGATACTATATCATAATATAACATTATGAT ATGATACTATATCATAATATAACATTATGATATGATACTATATCATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA20300.hp2 HG02922.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0056 a0001c0001t0001 a0004c0004t0056	a0001c0001t0001g0064 a0004c0004t0056g0003 a0001c0001t0001g0064 a0004c0004t0056g0003	2	174	0.0115	546	c.41- others(563): Show c.41-49090_41-49089insTATGATATGATACTATATCATCATATAA CATTATGATATGATACTATATCATCATATAACATTATGATATGATACTAT ATCATCATATAACATTATGATATGATACTATATCATCATATAACATTATG ATATGATACTATATCATCATATAACATTATGATATGATACTATATCATCA TATAACATTATGATATGATACTATATCATCATATAACATTATGATATACT ATATCATCATATAACATTATGATATACTATATCATCATATAACATTATGA TATACTATATCATCATATAACATTATGATATACTATATCATCATATAACA TTATGATATGATACTATATCATCATATAACATTATGATATGATACTATAT CATCATATAACATTATGATATGATACTATATCATAATATAACATTATGAT ATGATACTATATCATAATATAACATTATGATATGATACTATATCATAATA TAACATTATGATATGATACTATATCATAATATAACATTATGATATGATAC TATATCATAATATAACAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TWIST2_chr2_238843085_238915534	238870185	C C	CCACACAC others(539): Show CCACACACCCCACACACACCACACCCCACACACACCACACACACCACACC CCACACACACCACACACCCCACACACACCACACCCCACACACACCACACA CACCACACACACCACACCCCACACACACCACACACCCCCCACACACACCA CACCCCATACACACCACACCCCACACACACCACACCCCACACACACCACA CAAACCACACACCCTACACACCCCACACACACCACACACCACACACACCC CACACACACCACACCCCACACACACCACACCCCATACACACCACACCCCA TACACACCACACCCCACACACACCACACCCCATACACACCACACACCCCA CACACACCACACACCCCACACACACCACACCCCATACACACCACACCCCC CACACACCACACACCCCACACACACCACACCCCATACACACCACACCCCA CACACACCACACACCCCACACACACCACACCCCATACACACCACACACCC CACACACCACACACACACATCACATACCACACACACATCACATACCA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0185	1	338	0.0030	546	c.35 others(565): Show c.35+21452_*35+21453insCACACACCCCACACACACCACACCCC ACACACACCACACACACCACACCCCACACACACCACACACCCCACACACA CCACACCCCACACACACCACACACACCACACACACCACACCCCACACACA CCACACACCCCCCACACACACCACACCCCATACACACCACACCCCACACA CACCACACCCCACACACACCACACAAACCACACACCCTACACACCCCACA CACACCACACACCACACACACCCCACACACACCACACCCCACACACACCA CACCCCATACACACCACACCCCATACACACCACACCCCACACACACCACA CCCCATACACACCACACACCCCACACACACCACACACCCCACACACACCA CACCCCATACACACCACACCCCCCACACACCACACACCCCACACACACCA CACCCCATACACACCACACCCCACACACACCACACACCCCACACACACCA CACCCCATACACACCACACACCCCACACACCACACACACACATCACATAC CACACACACATCACATACCA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
UCN3_chr10_5359966_5379692	5370514	T T	TGCGTGTG others(539): Show TGCGTGTGTGTATGCGTGTGTATATGTGTGTGTGTATGTGTGTGTGTATG TGTGTATATGTGTGTGTATGTGTGTATGTGTGTATATGTGTGTGTATGTG TGTGTGTATATGCGTGTGTATATGTGTATGTGTGTGTATGTGTGTGTATA TGTGTGTATATGTGTGTGTATGTGTGTATGTGTGTGTATGTGTGTGTATG TGTGTGTGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTGTGTGTATG TGTGTGTATATGTGTGTGTGTATATGTGTGTGTATGTGTGTGTATGTGTG TGTATGTGTGTATATGTGTGTGTATGTGTGTGTATATGTGTGTATATGTG TGTGTATGTGTGTGTGTGTGTGTGTGTGTATGCGTGTGTATGCGTGTGTG TATGTGTGTGTATGCGTGTGTGTATGCGTGTGTATATGCGTGTGTATGTG TGTGTATGTGTGTGTATGCGTGTGTGTATATGTGTGTGTATGTGTGTGTA TATGTGTGTGTATATGTGTGTGTATGTGTGTGTATATGTGTGTATGC	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0390 a0001c0002t0005g0390	1	468	0.0021	546	c.-6- others(561): Show c.-6-3200_-6-3199insCGTGTGTGTATGCGTGTGTATATGTGTGTG TGTATGTGTGTGTGTATGTGTGTATATGTGTGTGTATGTGTGTATGTGTG TATATGTGTGTGTATGTGTGTGTGTATATGCGTGTGTATATGTGTATGTG TGTGTATGTGTGTGTATATGTGTGTATATGTGTGTGTATGTGTGTATGTG TGTGTATGTGTGTGTATGTGTGTGTGTGTATGTGTGTGTATGTGTGTGTA TATGTGTGTGTGTGTATGTGTGTGTATATGTGTGTGTGTATATGTGTGTG TATGTGTGTGTATGTGTGTGTATGTGTGTATATGTGTGTGTATGTGTGTG TATATGTGTGTATATGTGTGTGTATGTGTGTGTGTGTGTGTGTGTGTATG CGTGTGTATGCGTGTGTGTATGTGTGTGTATGCGTGTGTGTATGCGTGTG TATATGCGTGTGTATGTGTGTGTATGTGTGTGTATGCGTGTGTGTATATG TGTGTGTATGTGTGTGTATATGTGTGTGTATATGTGTGTGTATGTGTGTG TATATGTGTGTATGCG	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
USP12_chr13_27061156_27176811	27063931	A A	AGGGAGGA others(539): Show AGGGAGGAGAGGAGGGAGGGAGGAAAGAAGGGAGGGAGAGGAAGGAAGGA AGGAAGAGAGAGAGGGAAGGGAGGGGAGGGGAGGGGATGGAGGAAGGGAG TAAAGGAGAAAGGAAGGGAGGGTGAAAGAGAGGGAGGGAGGAAGGAGGGA GGGGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAG GGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAGGG AGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAGAAAG AGAGGGAGGGAGGGAGGGAGGGGGGAGGAGAGGGAGGGAGAAAGAGAGGG AGGGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAG GGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGA AGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGGAGGAAG GAGGGAGGGGAGGGAAGGGAGGGAGGAAGGGAGGGAGAGGAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0052 a0001c0001t0007g0052	1	167	0.0060	546	c.53 others(557): Show c.5351_*5352insCCTTCCTCCTCTCCCTCCCTTCCTCCCTCCCTTC CCTCCCCTCCCTCCTTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCC TCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCT CCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCC CTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCCCCTCCCTC CCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCCTCCC TCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCCTCCCTCCCTC TCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCCTCCCTCCCTCTCTTTC TCCCTCCCTCCCCTCCCTCCTTCCTCCCTCCCTCTCTTTCACCCTCCCTT CCTTTCTCCTTTACTCCCTTCCTCCATCCCCTCCCCTCCCCTCCCTTCCC TCTCTCTCTTCCTTCCTTCCTTCCTCTCCCTCCCTTCTTTCCTCCCTCCC TCCTCTCCTCCC	USP12	ENSG00000152484.14	transcript	ENST00000282344.11	protein_coding		2224		chr13	TogoVar
ZC3H12B_chrX_65029826_65512887	65450462	T T	TATATGTG others(539): Show TATATGTGTATATATGTATATATGTATATATGTACATATGTATATATATG TATATATGTACATATGTATATATATGTATATATGTATATATACATATGTA TATATATGTACATATGTATATATATACATGTATACATATGTATACATGTA TATATATACATATGTATACATGTATATATGTATATATATACATGTATACA TATGTATATATGTATACATATGTATATATGTATATATGTATAAATATACA TATGTATATATATGTATATATGTATACATATGTATATATACATATGTATA TATATGTATATATGTATACATATGTATATATACATATGTATATATATGTA TACATATGCATATATACATATGTATATATATGTATATATGTATACATATG TATATATACATATGTATATATATGTATACATATGCATATATACATATGTA TATATATGTATATATGTATACATATGTATATATGCATATATATACATATG TATATATGCATATATATACATATGTGTATATATGTATATATGTATAC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	165	0.0061	546	c.-15 others(567): Show c.-156-38164_-156-38163insATGTATATATGTACATATGTATAT ATATGTATATATGTACATATGTATATATATGTATATATGTATATATACAT ATGTATATATATGTACATATGTATATATATACATGTATACATATGTATAC ATGTATATATATACATATGTATACATGTATATATGTATATATATACATGT ATACATATGTATATATGTATACATATGTATATATGTATATATGTATAAAT ATACATATGTATATATATGTATATATGTATACATATGTATATATACATAT GTATATATATGTATATATGTATACATATGTATATATACATATGTATATAT ATGTATACATATGCATATATACATATGTATATATATGTATATATGTATAC ATATGTATATATACATATGTATATATATGTATACATATGCATATATACAT ATGTATATATATGTATATATGTATACATATGTATATATGCATATATATAC ATATGTATATATGCATATATATACATATGTGTATATATGTATATATGTAT ACATATGTGTATATATGTATAT	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZDHHC20_chr13_21367571_21464303	21377234	A A	ACTCTGCC others(539): Show ACTCTGCCCTGCGTGACCTCCACCCCTAGTGCCTGCGATCTGACTCTGCC CGACATGACCTCCACCCCTAGTGCCTGTGATCTGACTCTGCCCGACGTGA CCTCCACCCCTAGTGCCTGCGATCTGACTGCCCGACGTGACCTCCACCCC TAGTGCCTGTGATCTGACTCTGCCCGACGTGACCTCCACCCCTAGTGCCT GCGATCTGACTCTGCCCGACGTGACCTCCACCCCTAGTGCCTGCGATCTG ACTCTGCCCGACGTGACCTCCACCCCTAGTGCCTGCGATCTGACTCTGCC CGACGTGACCTCCACCCCTAGTGCCTGCGATCTGACTCTGCCCGACGTGA CCTCCACCCCTAGTGCCTGCGATCTGACTCTGCCCGACGTGACCTCCACC CCTAGTGCCTGCGATCTGACTCTGCCCGACGTGACCTCCACCCCTAGTGC CTGCGATCTGACTCTGCCCGACGTGACCTCCACCCCTAGTGCCTGCGATC TGACTCTGCCCGACGTGACCTCCACCCCTAGTGCCTGCGATCTGACT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02809.hp1 others(5): Show HG01891.hp1 HG02145.hp1 HG02809.hp1 HG02922.hp1 HG02965.hp1 HG03139.hp2 HG03516.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0025 others(5): Show a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0217 a0001c0001t0005g0218	8	302	0.0265	546	c.41 others(561): Show c.41-580_*41-579insAGTCAGATCGCAGGCACTAGGGGTGGAGGT CACGTCGGGCAGAGTCAGATCGCAGGCACTAGGGGTGGAGGTCACGTCGG GCAGAGTCAGATCGCAGGCACTAGGGGTGGAGGTCACGTCGGGCAGAGTC AGATCGCAGGCACTAGGGGTGGAGGTCACGTCGGGCAGAGTCAGATCGCA GGCACTAGGGGTGGAGGTCACGTCGGGCAGAGTCAGATCGCAGGCACTAG GGGTGGAGGTCACGTCGGGCAGAGTCAGATCGCAGGCACTAGGGGTGGAG GTCACGTCGGGCAGAGTCAGATCGCAGGCACTAGGGGTGGAGGTCACGTC GGGCAGAGTCAGATCGCAGGCACTAGGGGTGGAGGTCACGTCGGGCAGAG TCAGATCACAGGCACTAGGGGTGGAGGTCACGTCGGGCAGTCAGATCGCA GGCACTAGGGGTGGAGGTCACGTCGGGCAGAGTCAGATCACAGGCACTAG GGGTGGAGGTCATGTCGGGCAGAGTCAGATCGCAGGCACTAGGGGTGGAG GTCACGCAGGGCAGAG	ZDHHC20	ENSG00000180776.17	transcript	ENST00000400590.8	protein_coding	12/12			chr13	TogoVar
ZNF236_chr18_76817557_76977901	76926805	A A	ATATAGTA others(539): Show ATATAGTATAAAGGGTGATTACACAGTGTGTGTGTGTGTATGGTATAAAG GGTGATTAGACAGTGTATATGTGTGTGTGTATGGTATAAAGGGTGATTAG ACTGTGTGTATGGTATAAACGGTGATTAGACTGTGTGTATGATATAAAGG GTGATTAGACAGTGTGTGTGTGTATGGTATAAAGGGTGATTAGGGCCGGG TGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATCGAC GGATCACGAGGTCAGGAGATCGAGATCATCCTGGCTAACATGGTGAAACC CCGTCTCTACTAAAAATACAAAAAAAAATTACCCAGGTGTGGTGGCTGGC GCCTGTAGTCCCAGCTACTCAGGAGGGTGAGGGAGGAGAATGGTGTGAAC CTGGGAGGCGGAGCTTGCAGTGAGCTGAGATGGCACCACTGCACTCTAGT CTGGGCGACTGAGCGAGAGACTGTCTCAAAAAAAAAAAAAGGGTGATTAG ACAGTGTGTGTGTATGGTATAAAGGGTGATTAGACAGTATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02809.hp1 others(1): Show HG02257.hp1 HG02451.hp1 HG02809.hp1 HG02818.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0006 a0001c0016t0006	a0001c0016t0006g0151 a0001c0016t0006g0152 a0001c0016t0006g0153 others(1): Show a0001c0016t0006g0151 a0001c0016t0006g0152 a0001c0016t0006g0153 a0001c0016t0006g0162	4	346	0.0116	546	c.402 others(563): Show c.4028-229_4028-228insAGTATAAAGGGTGATTACACAGTGTGTG TGTGTGTATGGTATAAAGGGTGATTAGACAGTGTATATGTGTGTGTGTAT GGTATAAAGGGTGATTAGACTGTGTGTATGGTATAAACGGTGATTAGACT GTGTGTATGATATAAAGGGTGATTAGACAGTGTGTGTGTGTATGGTATAA AGGGTGATTAGGGCCGGGTGTGGTGGCTCATGCCTGTAATCCCAGCACTT TGGGAGGCCGAGATCGACGGATCACGAGGTCAGGAGATCGAGATCATCCT GGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAC CCAGGTGTGGTGGCTGGCGCCTGTAGTCCCAGCTACTCAGGAGGGTGAGG GAGGAGAATGGTGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCTGAGATG GCACCACTGCACTCTAGTCTGGGCGACTGAGCGAGAGACTGTCTCAAAAA AAAAAAAAGGGTGATTAGACAGTGTGTGTGTATGGTATAAAGGGTGATTA GACAGTATGTGTGTGTAT	ZNF236	ENSG00000130856.18	transcript	ENST00000320610.14	protein_coding	22/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
ZNF516_chr18_76352682_76500242	76401788	C C	CCCCCGCG others(539): Show CCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCC TCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAC CCCCGCGCCGCACCCCTCCACCACCCACACCCCCGCGCCGCACCCCTCCA CCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCC GCGCTCCATCTCTCCACCAACCACACCCCCGCGCCGCACCTCTCCACCAC CAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGC CGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACC CACACCCCCGCGCCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCA CCCCTCCACCACCAACCACACCCCCGCGCTCCATCTCTCCACCAACCACA CCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCC TCCACCACCCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0064 a0001c0002t0019g0064	1	346	0.0029	546	c.181 others(567): Show c.1811-21486_1811-21485insCTGTGGTTGGTGGTGGAGGGGTGC GGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGT GGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGAGAGATGGAGCGCGG GGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTGGTG GAGGGGTGCGGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGCT GTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGG GGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGGGTG TGGTTGGTGGAGAGATGGAGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTG CGGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGG TGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGC GCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGT GGTGGAGGGGTGCGGCGCGGGG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76401788	C C	CCCCCGCG others(539): Show CCCCCGCGCCGCACCTCTCCACCACCAACCACACCCCCGCGCCGCACCCC TCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAC CCCCGCGCCGCACCCCTCCACCACCCACACCCCCGCGCCACACCCCTCCA CCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCC GCGCTCCATCTCTCCACCAACCACACCCCCGCGCCGCACCTCTCCACCAC CAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGC CGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACC CACACCCCCGCGCCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCA CCCCTCCACCACCAACCACACCCCCGCGCTCCATCTCTCCACCAACCACA CCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCC TCCACCACCCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01070.hp1 HG01255.hp1 others(45): Show HG00741.hp1 HG01070.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02074.hp1 HG02080.hp2 HG02132.hp2 HG02155.hp1 HG02165.hp2 HG02683.hp1 HG03239.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG04184.hp1 HG04228.hp2 HG06807.hp2 NA18940.hp1 NA18941.hp1 NA18952.hp2 NA18960.hp2 NA18962.hp2 NA18966.hp2 NA18995.hp1 NA18998.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19056.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19077.hp1 NA19080.hp2 NA20905.hp2	a0001 a0004 a0005 others(4): Show a0001 a0004 a0005 a0007 a0009 a0012 a0013	a0001c0001 a0001c0002 a0001c0018 others(7): Show a0001c0001 a0001c0002 a0001c0018 a0001c0027 a0004c0010 a0005c0008 a0007c0015 a0009c0050 a0012c0034 a0013c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0020 a0001c0001t0039 a0001c0001t0040 a0001c0001t0043 a0001c0001t0056 a0001c0001t0066 a0001c0001t0092 a0001c0001t0144 a0001c0001t0148 a0001c0001t0156 a0001c0001t0157 a0001c0001t0158 a0001c0001t0160 a0001c0001t0162 a0001c0001t0179 a0001c0001t0188 a0001c0002t0003 a0001c0002t0005 a0001c0002t0053 a0001c0002t0105 a0001c0002t0141 a0001c0018t0001 a0001c0018t0010 a0001c0027t0123 a0004c0010t0036 a0005c0008t0007 a0005c0008t0045 a0007c0015t0021 a0009c0050t0009 a0012c0034t0019 a0013c0037t0002	a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0148 others(45): Show a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0148 a0001c0001t0001g0157 a0001c0001t0001g0163 a0001c0001t0002g0024 a0001c0001t0002g0137 a0001c0001t0002g0340 a0001c0001t0003g0031 a0001c0001t0004g0167 a0001c0001t0004g0221 a0001c0001t0007g0247 a0001c0001t0011g0193 a0001c0001t0012g0295 a0001c0001t0014g0052 a0001c0001t0020g0035 a0001c0001t0020g0328 a0001c0001t0039g0188 a0001c0001t0040g0191 a0001c0001t0043g0294 a0001c0001t0056g0151 a0001c0001t0066g0190 a0001c0001t0092g0135 a0001c0001t0144g0144 a0001c0001t0148g0057 a0001c0001t0156g0304 a0001c0001t0157g0065 a0001c0001t0158g0053 a0001c0001t0160g0136 a0001c0001t0162g0291 a0001c0001t0179g0293 a0001c0001t0188g0051 a0001c0002t0003g0155 a0001c0002t0005g0067 a0001c0002t0053g0002 a0001c0002t0105g0289 a0001c0002t0141g0058 a0001c0018t0001g0056 a0001c0018t0010g0189 a0001c0027t0123g0153 a0004c0010t0036g0145 a0005c0008t0007g0154 a0005c0008t0045g0138 a0005c0008t0045g0139 a0007c0015t0021g0259 a0009c0050t0009g0066 a0012c0034t0019g0280 a0013c0037t0002g0060	48	346	0.1387	546	c.181 others(567): Show c.1811-21486_1811-21485insCTGTGGTTGGTGGTGGAGGGGTGC GGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGT GGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGAGAGATGGAGCGCGG GGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTGGTG GAGGGGTGCGGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGCT GTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGG GGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGGGTG TGGTTGGTGGAGAGATGGAGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTG CGGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGTGGCGCGGGGGTGTGGG TGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGC GCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGT GGTGGAGAGGTGCGGCGCGGGG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76401788	C C	CCCCCGCG others(539): Show CCCCCGCGCCGCACCTCTCCACCACCAACCACACCCCCGCGCCGCACCCC TCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAC CCCCGCGCCGCACCCCTCCACCACCCACACCCCCGCGCCGCACCCCTCCA CCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCC GCGCTCCATCTCTCCACCAACCACACCCCCGCGCCGCACCTCTCCACCAC CAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGC CGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACC CACACCCCCGCGCCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCA CCCCTCCACCACCAACCACACCCCCGCGCTCCATCTCTCCACCAACCACA CCCCCGCGCCACACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCC TCCACCACCCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0178 a0001c0001t0178	a0001c0001t0178g0093 a0001c0001t0178g0093	1	346	0.0029	546	c.181 others(567): Show c.1811-21486_1811-21485insCTGTGGTTGGTGGTGGAGGGGTGC GGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGT GGTGGAGGGGTGTGGCGCGGGGGTGTGGTTGGTGGAGAGATGGAGCGCGG GGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTGGTG GAGGGGTGCGGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGCT GTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGG GGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGGGTG TGGTTGGTGGAGAGATGGAGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTG CGGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGG TGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGC GCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGT GGTGGAGAGGTGCGGCGCGGGG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76401788	C C	CCCCCGCG others(539): Show CCCCCGCGCCGCACCTCTCCACCACCAACCACACCCCCGCGCCGCACCCC TCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAC CCCCGCGCCGCACCCCTCCACCACCCACACCCCCGCGCCGCACCCCTCCA CCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCC GCGCTCCATCTCTCCACCAACCACACCCCCGCGCCGCACCTCTCCACCAC CAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGC CGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACC CACACCCCCGCGCCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCA CCCCTCCACCACCAACCACACCCCCGCGCTCCATCTCTCCACCAACCACA CCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCC TCCACCACCCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(86): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00735.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp2 HG01243.hp2 HG01358.hp1 HG01361.hp2 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02155.hp2 HG02257.hp1 HG02273.hp1 HG02300.hp1 HG02486.hp2 HG02559.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03710.hp2 HG04184.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18953.hp1 NA18961.hp2 NA18963.hp2 NA18971.hp2 NA18973.hp1 NA18990.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19060.hp2 NA19079.hp2 NA19081.hp2 NA19086.hp1 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0005 a0006 a0007 a0015 a0019	a0001c0001 a0001c0002 a0001c0004 others(19): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0012 a0001c0014 a0001c0028 a0001c0031 a0001c0032 a0001c0033 a0001c0044 a0001c0045 a0003c0048 a0004c0010 a0004c0017 a0004c0030 a0005c0008 a0006c0041 a0007c0015 a0015c0036 a0019c0029	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(70): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0025 a0001c0001t0032 a0001c0001t0039 a0001c0001t0041 a0001c0001t0046 a0001c0001t0085 a0001c0001t0086 a0001c0001t0091 a0001c0001t0107 a0001c0001t0137 a0001c0001t0140 a0001c0001t0143 a0001c0001t0146 a0001c0001t0147 a0001c0001t0152 a0001c0001t0153 a0001c0001t0168 a0001c0001t0169 a0001c0001t0171 a0001c0001t0180 a0001c0001t0184 a0001c0001t0185 a0001c0002t0096 a0001c0002t0127 a0001c0002t0128 a0001c0002t0129 a0001c0002t0135 a0001c0002t0136 a0001c0002t0151 a0001c0002t0163 a0001c0002t0165 a0001c0002t0167 a0001c0004t0076 a0001c0004t0078 a0001c0005t0062 a0001c0005t0104 a0001c0005t0111 a0001c0005t0190 a0001c0006t0026 a0001c0006t0028 a0001c0006t0057 a0001c0006t0182 a0001c0012t0204 a0001c0014t0008 a0001c0028t0071 a0001c0031t0098 a0001c0032t0008 a0001c0033t0003 a0001c0044t0113 a0001c0045t0131 a0003c0048t0028 a0004c0010t0037 a0004c0017t0064 a0004c0030t0176 a0005c0008t0038 a0006c0041t0183 a0007c0015t0044 a0015c0036t0134 a0019c0029t0109	a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0090 others(86): Show a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0162 a0001c0001t0001g0263 a0001c0001t0001g0296 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0096 a0001c0001t0002g0141 a0001c0001t0002g0253 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0276 a0001c0001t0004g0194 a0001c0001t0005g0283 a0001c0001t0006g0088 a0001c0001t0006g0261 a0001c0001t0008g0271 a0001c0001t0009g0140 a0001c0001t0009g0334 a0001c0001t0010g0255 a0001c0001t0010g0286 a0001c0001t0013g0023 a0001c0001t0014g0161 a0001c0001t0016g0331 a0001c0001t0017g0171 a0001c0001t0021g0159 a0001c0001t0021g0160 a0001c0001t0025g0170 a0001c0001t0032g0290 a0001c0001t0039g0085 a0001c0001t0041g0149 a0001c0001t0041g0175 a0001c0001t0046g0082 a0001c0001t0085g0032 a0001c0001t0086g0099 a0001c0001t0091g0004 a0001c0001t0107g0152 a0001c0001t0137g0169 a0001c0001t0140g0254 a0001c0001t0143g0146 a0001c0001t0146g0332 a0001c0001t0147g0325 a0001c0001t0152g0027 a0001c0001t0153g0061 a0001c0001t0168g0087 a0001c0001t0169g0195 a0001c0001t0171g0150 a0001c0001t0180g0322 a0001c0001t0184g0262 a0001c0001t0185g0323 a0001c0002t0096g0333 a0001c0002t0127g0042 a0001c0002t0128g0041 a0001c0002t0129g0192 a0001c0002t0135g0073 a0001c0002t0136g0103 a0001c0002t0151g0168 a0001c0002t0163g0080 a0001c0002t0165g0048 a0001c0002t0167g0091 a0001c0004t0076g0062 a0001c0004t0078g0166 a0001c0005t0062g0038 a0001c0005t0104g0074 a0001c0005t0111g0071 a0001c0005t0190g0122 a0001c0006t0026g0034 a0001c0006t0028g0292 a0001c0006t0057g0165 a0001c0006t0182g0130 a0001c0012t0204g0114 a0001c0014t0008g0028 a0001c0028t0071g0128 a0001c0031t0098g0273 a0001c0032t0008g0133 a0001c0033t0003g0260 a0001c0044t0113g0107 a0001c0045t0131g0021 a0003c0048t0028g0036 a0004c0010t0037g0245 a0004c0017t0064g0014 a0004c0030t0176g0134 a0005c0008t0038g0327 a0006c0041t0183g0127 a0007c0015t0044g0147 a0015c0036t0134g0040 a0019c0029t0109g0222	89	346	0.2572	546	c.181 others(567): Show c.1811-21486_1811-21485insCTGTGGTTGGTGGTGGAGGGGTGC GGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGT GGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGAGAGATGGAGCGCGG GGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTGGTG GAGGGGTGCGGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGCT GTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGG GGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGGGTG TGGTTGGTGGAGAGATGGAGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTG CGGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGG TGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGC GCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGT GGTGGAGAGGTGCGGCGCGGGG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ZNF516_chr18_76352682_76500242	76401788	C C	CCCCCGCG others(539): Show CCCCCGCGCCGCACCTCTCCACCACCAACCACACCCCCGCGCCGCACCCC TCCACCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACAC CCCCGCGCCGCACCCCTCCACCACCCACACCCCCGCGCCACACCCCTCCA CCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCC GCGCTCCATCTCTCCACCAACCACACCCCCGCGCCGCACCTCTCCACCAC CAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGC CGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACC CACACCCCCGCGCCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCA CCCCTCCACCACCAACCACACCCCCGCGCTCCATCTCTCCACCAACCACA CCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCC TCCACCACCCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0243 a0001c0001t0009g0243	1	346	0.0029	546	c.181 others(567): Show c.1811-21486_1811-21485insCTGTGGTTGGTGGTGGAGGGGTGC GGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGT GGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGAGAGATGGAGCGCGG GGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTGGTG GAGGGGTGCGGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGCT GTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGG GGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGGGTG TGGTTGGTGGAGAGATGGAGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTG CGGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGTGGCGCGGGGGTGTGGG TGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGC GCGGGGCTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGT GGTGGAGAGGTGCGGCGCGGGG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar

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Search Results (Total: 10000 hits)