JoGo: Joint Open Genome and Omics Platform

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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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
PRDM16_chr1_3064203_3443621	3260742	A A	ATGATGGT others(841): Show ATGATGGTGATGATAATGATAGTGATGGTGATGATGATGGTGGTGGTGAT GGTGATGGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGG TGATGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGGTGGTGATG ATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGGTGATGGTGGT GGTGATGATGGTGATGGTGATGATGATGGTGGTGGTGATGATGGTGGTGG TGATGATGGTGATGGTGGTGATGGTGATGGTGGTGATGATGGTGATGGTG ATAATGATAGTGGTGATGATGGTGATGGTGGTGATGATGGTGATAATGAT AGTGGTGGTGGTGATGATGGTGATGGTGATGATGGTGATGCTGGTGGTGA TGGTGGTGATGATGGTGATGGTGATGATGATGGTGATGGTGGTGATGATG GTGATGGTGATGATGGTGATGGTGGTGGTGGTGATGGTGATGATAATGAT AGTGGTGATGATGGTGATGGTGGTGGTGATGGTGATGGTGATGATGGTGA TGGTGATGGTGATGGTGGTGGTGGTGATGGTGGTGGTGATGATGGTGATG GTGAAGGTGTTGATGATGGTGATGGTGGTGGTGATGATGATGGTGGTGAT GATGGTGATGGTGGTGATGATGATGGTGATGATGGTGATGGTGATGATGG TGATAATGATAGTGGTGATGATGGTGATGATGATAGTGATGATGATGGTG ATGATGGTGATGGCGGCGATGATGGTGATGATGATGGTGATGGTTGTGAT GATGTTGGTGATGGTGGTGATGATGATGGCATGATGGCAGTGATTCAAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03239.hp2 HG02109.hp1 HG03239.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0063 a0002c0003t0002 a0001c0004t0063 a0002c0003t0002	a0001c0004t0063g0016 a0002c0003t0002g0102 a0001c0004t0063g0016 a0002c0003t0002g0102	2	210	0.0095	848	c.438 others(867): Show c.438+16610_438+16611insGTGATGATAATGATAGTGATGGTGAT GATGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGATGGTGA TGGTGATGATGGTGGTGGTGATGATGGTGGTGATGATGGTGATGGTGATG ATGGTGATGGTGGTGATGATGGTGGTGGTGATGATGGTGATGGTGATGAT GGTGGTGGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGATGGTGG TGGTGATGATGGTGGTGGTGATGATGGTGATGGTGGTGATGGTGATGGTG GTGATGATGGTGATGGTGATAATGATAGTGGTGATGATGGTGATGGTGGT GATGATGGTGATAATGATAGTGGTGGTGGTGATGATGGTGATGGTGATGA TGGTGATGCTGGTGGTGATGGTGGTGATGATGGTGATGGTGATGATGATG GTGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGGTGGTGGTGGT GATGGTGATGATAATGATAGTGGTGATGATGGTGATGGTGGTGGTGATGG TGATGGTGATGATGGTGATGGTGATGGTGATGGTGGTGGTGGTGATGGTG GTGGTGATGATGGTGATGGTGAAGGTGTTGATGATGGTGATGGTGGTGGT GATGATGATGGTGGTGATGATGGTGATGGTGGTGATGATGATGGTGATGA TGGTGATGGTGATGATGGTGATAATGATAGTGGTGATGATGGTGATGATG ATAGTGATGATGATGGTGATGATGGTGATGGCGGCGATGATGGTGATGAT GATGGTGATGGTTGTGATGATGTTGGTGATGGTGGTGATGATGATGGCAT GATGGCAGTGATTCAAGTGATG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3260742	A A	ATGATGGT others(841): Show ATGATGGTGATGATAATGATAGTGATGGTGATGATGATGGTGGTGGTGAT GGTGATGGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGG TGATGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGGTGGTGATG ATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGGTGATGGTGGT GGTGATGATGGTGATGGTGATGATGGTGGTGGTGATGATGGTGGTGGTGA TGATGGTGATGGTGGTGATGGTGATGGTGGTGATGATGGTGATGGTGATA ATGATAGTGGTGATGATGGTGATGGTGGTGATGATGGTGATAATGATAGT GGTGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGCTGGTGGTGA TGGTGGTGATGATGGTGATGGTGATGATGATGGTGATGGTGGTGATGATG GTGATGGTGATGATGATGGTGATGGTGGTGGTGGTGATGGTGATGATAAT GATGGTGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTGATGA TGGTGATGGTGATGGTGGTGGTGGTGATGGTGGTGGTGATGATGGTGATG GTGAAGGTGTTGATGATGGTGATGGTGGTGGTGATGATGATGGTGGTGAT GATGGTGATGGTGGTGATGATGATGGTGATGATGGTGATGGTGATGATGG TGATAATGATAGTGGTGATGATGGTGATGATGATAGTGATGATGATGGTG ATGATGGTGATGGCGGCGATGATGGTGATGATGATGGTGATGGTTGTGAT GATGTTGGTGATGGTGGTGATGATGATGGCATGATGGCAGTGATTCAAG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0060 a0001c0001t0043g0060	1	210	0.0048	848	c.438 others(867): Show c.438+16610_438+16611insGTGATGATAATGATAGTGATGGTGAT GATGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGATGGTGA TGGTGATGATGGTGGTGGTGATGATGGTGGTGATGATGGTGATGGTGATG ATGGTGATGGTGGTGATGATGGTGGTGGTGATGATGGTGATGGTGATGAT GGTGGTGGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGG TGATGATGGTGGTGGTGATGATGGTGATGGTGGTGATGGTGATGGTGGTG ATGATGGTGATGGTGATAATGATAGTGGTGATGATGGTGATGGTGGTGAT GATGGTGATAATGATAGTGGTGATGGTGGTGATGATGGTGATGGTGATGA TGGTGATGCTGGTGGTGATGGTGGTGATGATGGTGATGGTGATGATGATG GTGATGGTGGTGATGATGGTGATGGTGATGATGATGGTGATGGTGGTGGT GGTGATGGTGATGATAATGATGGTGGTGATGATGGTGATGGTGATGATGG TGATGGTGATGGTGATGATGGTGATGGTGATGGTGGTGGTGGTGATGGTG GTGGTGATGATGGTGATGGTGAAGGTGTTGATGATGGTGATGGTGGTGGT GATGATGATGGTGGTGATGATGGTGATGGTGGTGATGATGATGGTGATGA TGGTGATGGTGATGATGGTGATAATGATAGTGGTGATGATGGTGATGATG ATAGTGATGATGATGGTGATGATGGTGATGGCGGCGATGATGGTGATGAT GATGGTGATGGTTGTGATGATGTTGGTGATGGTGGTGATGATGATGGCAT GATGGCAGTGATTCAAGTGATG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAB11FIP3_chr16_420649_528011	492423	C C	CTCCCGGG others(841): Show CTCCCGGGGGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTTCCCGGGGAGACCCGAGGCCGTCCAGGGCCCTCCCCGGGAGACC CGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCT CCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGG GAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCA GGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGA CCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGGGC CCTTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCG AGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	295	0.0034	848	c.126 others(867): Show c.1265+3427_1265+3428insGGGGGACCCGAGGCCGCCCAGAGCCC TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCG GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGTCCA GGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACC CGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCT TCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGG GGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCC AGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAG ACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGGG CCCTTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCC GAGGCCGCCCAGGGCCCTTCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
SARDH_chr9_133658560_133743352	133668573	T T	TCTCCCTC others(841): Show TCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCCCTCCCTCACCCTCCCT CTCCCTCACCCTCCCTCTCCCCTCGCCCTCCCTCTCCCCTCACCCTCATC CTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCC TCCCTCTCCCTCACCCTCCCTCTCTCTCTCCTTCCCTCTCCCTTACCCTC CCTCTCCCTCACCTTCCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCA TCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCCCTCACCTTCCCT CTCCCTTACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCCCTC TCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCCTCCCTCTC CCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTC CCTCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCCTCACCCTCCCTCTC CCTCACCCTCCCTCTCCCCTCATCCTCCCTCACCCTCCCTCTCCCTCACC CTCCCTCTCCCCTTACCCTCCCCCTCCCTCTCCCTCACCTTCCCTCTCCC CTACCCTCCCTCTCCCTCACCCTCCCTCTCTCTCTCCTTCCCTCTCCCTT ACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCTTCCCTCTCCCTCAC CCTCCATCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCCCTCACC TTCCCTCTCCCTTACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCC TCCCTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCATC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0001 a0001c0033t0001	a0001c0033t0001g0146 a0001c0033t0001g0146	1	262	0.0038	848	c.249 others(867): Show c.2496-1704_2496-1703insGATGAGGGGAGAGGGAGGGTGAGGGA GAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGA GAGGGAGGGTAAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGGAG AGGGAGGGTGAGGGAGATGGAGGGTGAGGGAGAGGGAAGGTGAGGGAGAG GGAAGGTGAGGGAGAGGGAGGGTAAGGGAGAGGGAAGGAGAGAGAGAGGG AGGGTGAGGGAGAGGGAGGGTAGGGGAGAGGGAAGGTGAGGGAGAGGGAG GGGGAGGGTAAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGG ATGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGGAGAGGGAGG GTGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGAGGGAGGG TGAGGGGAGAGGGAGGGTGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGG TAAGGGAGAGGGAAGGAGAGAGAGAGGGAGGGTGAGGGGAGAGGGAGGGT GAGGGAGAGGGAGGGTAAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTAA GGGGAGAGGGAGGGTGAGGGAGATGGAGGGTGAGGGAGAGGGAAGGTGAG GGAGAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGAGAGGGAAGGAGAGAG AGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGGA GAGGGAGGGTGAGGGAGAGGGAGGATGAGGGTGAGGGGAGAGGGAGGGCG AGGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGGGGGAGGGTAA GGGGAGAGGGAGGGTGAGGGAG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
THBS2_chr6_169210785_169258846	169242825	T T	TTCCCACC others(841): Show TTCCCACCTTCCCCACCTTCCCACCGCTCCCACCTTCCACCTTCCCATCT TCCCATCTTCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACCACT CCCCACCTTCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACCTTC CCATCTTCCCATCTTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCC CACCACTCCCACCTTCCCACCTTTCCTACCTTCCCACCGCTCCCAACCTT CCCACCTTCCATCTTCCCATCTTCCCACCTTCCCACCACTTCCCACCTTC CCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCCCACCTTCC CACATTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCCACCTTCC CACTGCTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACCTTCCA CCTTCCTACCGCTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCAC CTTCCCCACTGCTCCCACCTTCCCACCTTCCACATTCCCACCTTCCCACA TTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCACCTTCCCACCAC TCCTACCTTCCTACCTTCCCACCGCTCCCACATTCTCACCTTCCCCACCT TTCCACCTTCCACCACTCCTACCTTCCCACCTTCCCACATTCCCACCTTC CCACCTTCCCACAGTCCCACCTTCCCACCTTCCAACCGCTCCCACCTTCC CACCTTCCCACCGCTCCCACCTTCCCCACCTTCCCACTGCTCCCACCTTC CCATCACTCCCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCACCAC	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0001 a0001c0031t0001	a0001c0031t0001g0064 a0001c0031t0001g0064	1	396	0.0025	848	c.695 others(863): Show c.695-868_695-867insGTGGTGGGAAGGTGGGAAGGTGGGAGCGGT GGGAAGGTGGGAGTGATGGGAAGGTGGGAGCAGTGGGAAGGTGGGGAAGG TGGGAGCGGTGGGAAGGTGGGAAGGTGGGAGCGGTTGGAAGGTGGGAAGG TGGGACTGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTA GGAGTGGTGGAAGGTGGAAAGGTGGGGAAGGTGAGAATGTGGGAGCGGTG GGAAGGTAGGAAGGTAGGAGTGGTGGGAAGGTGGAAGGTGGGAGCAGTGG GAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGGAAGGTGGGAA GGTGGGAGCAGTGGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAA GGTGGGAGCGGTAGGAAGGTGGAAGGTGGGAAGGTGGGAATGTGGGAAGG TGGGAAGGTGGGAGCAGTGGGAAGGTGGGGAAGGTGGGAAGGTGGGAGTG GTGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGT GGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGTGGTGGGAAGGTGGGAAGA TGGGAAGATGGAAGGTGGGAAGGTTGGGAGCGGTGGGAAGGTAGGAAAGG TGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGG TGGGAAGATGGGAAGATGGGAAGGTGGGAAGGTGGGAGCGGTGGGAAGGT GGGAAGGTGGAAGGTGGGGAGTGGTGGGAAGGTGGGAAGGTGGGAGTGGT GGGAAGGTGGAAGATGGGAAGATGGGAAGGTGGAAGGTGGGAGCGGTGGG AAGGTGGGGAAGGTGGGA	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
TH_chr11_2158929_2176815	2161948	C C	CACCCCTG others(841): Show CACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTG TCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACA CCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGT CCTCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCTCACA CCCCTGTCCCCAGGACCCTGTCCCCGGACCCCTGTCCCCACACCCCTGTC CCCGGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCAGAC CCCTATCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCC CCGGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACC CCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCC CACACCCCTATCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCC TGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCC ACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCC TGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTATCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTG TCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCACA CCCCTGTCCCCGGGACCCCTGTCCTCACACCCCTGTCCCCACACCCCTGT CCCCAGGACCCCTGTCCTCACACCCCTGTCCCCAGGACCCTGTCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02683.hp2 HG02451.hp1 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0039 a0001c0002t0001g0007 a0001c0002t0001g0039	2	388	0.0052	848	c.22 others(859): Show c.2284_*2285insCCGGGGACAGGGTCCTGGGGACAGGGGTGTGAGG ACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGAGGACAGGGG TCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGG ACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGT GTGGGGATAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTG TGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACA GGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGT GGGGATAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAG GGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGG GGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGG GGTGTGGGGATAGGGGTCTGGGGACAGGGGTCTGGGGACAGGGGTGTGGG GACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGACAGGG TCCTGGGGACAGGGGTGTGAGGACAGGGGTCCTGGGGACAGGGGTGTGGG GACAGGGGTGTGAGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGG GTCTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTGTGGGG ACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGT GTGGGGACAGGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		1980		chr11	TogoVar
TJP3_chr19_3703384_3755813	3742665	A A	AGGCATGG others(841): Show AGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCG GGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACTGTGAA ACCCCGTCTCTACTAAAAACACAAAAAATTAGCCGGGCGTGGTCGAGGGC GCCTGTGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAC CCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGC CTGGGTGACAGAGTGAGACTCCATCTCAAAAAACAAACAAAAAAAAAGAA ATACAAGGCCACACAGTTAATTTCTTTCTTTCTTTTTTTTTTTTTTTTGA GACAGTGTCTCGCTTTGTCACTCAGGCTGGAGTGTAGTGGTGTGATCTCG GCTCACTGCAACCTCCACCCCCTGGGTTCAAGCGATTCTCGTGCCTCAGC CTCCCGAGTAGCTGGAATTACAGGCGCCTGCCACCACGCCTGGCTAATTT TTGTATTGTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGACGGTCTT GATCTCTTGACCTCGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGTGTGAGCCACCGCGCCCGGCCCACAACAGTTAATTTCTATCCC CAGCCAGTGAAAACATAAAAATACGGCCAGGAAGCCTGGAAGAAGGGGAG AAAAAGAGGCTGGGTGTGATGGCTCATGCCTGTAATCCCAGCACTTTGGA GGGCTGAGGTGGGAGGATGGCTTGAGCCCAGGAGTTTTGAGATCAGCCTG GGCAACACAGCAAGACCTCGTCTCTATGAAAATAAAAAAAACTGGGCCG	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0100 a0001c0015t0001g0100	1	398	0.0025	848	c.184 others(867): Show c.1844-1271_1844-1270insATGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCAAGACC ATCCTGGCTAACACTGTGAAACCCCGTCTCTACTAAAAACACAAAAAATT AGCCGGGCGTGGTCGAGGGCGCCTGTGGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGA TCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAA AAACAAACAAAAAAAAAGAAATACAAGGCCACACAGTTAATTTCTTTCTT TCTTTTTTTTTTTTTTTTGAGACAGTGTCTCGCTTTGTCACTCAGGCTGG AGTGTAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCCCCTGGGTTCA AGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCGCCTG CCACCACGCCTGGCTAATTTTTGTATTGTTAGTAGAGACGGGGTTTCACT ATGTTGGCCAGGACGGTCTTGATCTCTTGACCTCGTGATTCGCCTGCCTC GGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCCA CAACAGTTAATTTCTATCCCCAGCCAGTGAAAACATAAAAATACGGCCAG GAAGCCTGGAAGAAGGGGAGAAAAAGAGGCTGGGTGTGATGGCTCATGCC TGTAATCCCAGCACTTTGGAGGGCTGAGGTGGGAGGATGGCTTGAGCCCA GGAGTTTTGAGATCAGCCTGGGCAACACAGCAAGACCTCGTCTCTATGAA AATAAAAAAAACTGGGCCGGGC	TJP3	ENSG00000105289.15	transcript	ENST00000541714.7	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
TJP3_chr19_3703384_3755813	3742670	T T	TGGTGGCT others(841): Show TGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAG ATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCC GTCTCTACTAAAAACACAAAAAATTAGCCGGGCGTGGTCGAGGGCGCCTG TGGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGG TGACAGAGTGAGACTCCATCTCAAAAAACAAACAAAAAAAAAGAAATACA AGGCCACACAGTTAATTTCTTTCTTTCTTTTTTTTTTTTTTTTGAGACAG TGTCTCGCTTTGTCACTCAGGCTGGAGTGTAGTGGTGTGATCTCGGCTCA CTGCAACCTCCACCCCCTGGGTTCAAGCGATTCTCGTGCCTCAGCCTCCC GAGTAGCTGGAATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGTA TTGTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGACGGTCTTGATCT CTTGACCTCGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGTGTGAGCCACCGCGCCCGGCCCACAACAGTTAATTTCTATCCCCAGCC AGTGAAAACATAAAAATACGGCCAGGAAGCCTGGAAGAAGGGGAGAAAAA GAGGCTGGGTGTGATGGCTCATGCCTGTAATCCCAGCACTTTGGAGGGCT GAGGTGGGAGGATGGCTTGAGCCCAGGAGTTTTGAGATCAGCCTGGGCAA CACAGCAAGACCTCGTCTCTATGAAAATAAAAAAAACTGGGCCGGGCGC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0010 a0010	a0010c0058 a0010c0058	a0010c0058t0001 a0010c0058t0001	a0010c0058t0001g0099 a0010c0058t0001g0099	1	398	0.0025	848	c.184 others(867): Show c.1844-1227_1844-1226insCGGGCAGATCACGAGGTCAGGAGATC AAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAACACAA AAAATTAGCCGGGCGTGGTCGAGGGCGCCTGTGGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCAT CTCAAAAAACAAACAAAAAAAAAGAAATACAAGGCCACACAGTTAATTTC TTTCTTTCTTTTTTTTTTTTTTTTGAGACAGTGTCTCGCTTTGTCACTCA GGCTGGAGTGTAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCCCCTG GGTTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGG CGCCTGCCACCACGCCTGGCTAATTTTTGTATTGTTAGTAGAGACGGGGT TTCACTATGTTGGCCAGGACGGTCTTGATCTCTTGACCTCGTGATTCGCC TGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCC GGCCCACAACAGTTAATTTCTATCCCCAGCCAGTGAAAACATAAAAATAC GGCCAGGAAGCCTGGAAGAAGGGGAGAAAAAGAGGCTGGGTGTGATGGCT CATGCCTGTAATCCCAGCACTTTGGAGGGCTGAGGTGGGAGGATGGCTTG AGCCCAGGAGTTTTGAGATCAGCCTGGGCAACACAGCAAGACCTCGTCTC TATGAAAATAAAAAAAACTGGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGG	TJP3	ENSG00000105289.15	transcript	ENST00000541714.7	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
TJP3_chr19_3703384_3755813	3742670	T T	TGGTGGCT others(841): Show TGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAG ATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCC GTCTCTACTAAAAACACAAAAAATTAGCCGGGCGTGGTCGAGGGCGCCTG TGGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGG TGACAGAGTGAGACTCCATCTCAAAAAACAAACAAAAAAAAAAAGAAATA CAAGGCCACACAGTTAATTTCTTTCTTTCTTTTTTTTTTTTTTGAGACAG TGTCTCGCTTTGTCACTCAGGCTGGAGTGTAGTGGTGTGATCTCGGCTCA CTGCAACCTCCACCCCCTGGGTTCAAGCGATTCTCGTGCCTCAGCCTCCC GAGTAGCTGGAATTACAGGCGCCTGCCACCACGCCTGGCTAATTTTTGTA TTGTTAGTAGAGACGGGGTTTCACTATGTTGGCCAGGACGGTCTTGATCT CTTGACCTCGTGATTCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGTGTGAGCCACCGCGCCCGGCCCACAACAGTTAATTTCTATCCCCAGCC AGTGAAAACATAAAAATACGGCCAGGAAGCCTGGAAGAAGGGGAGAAAAA GAGGCCGGGTGTGATGGCTCATGCCTGTAATCCCAGCACTTTGGAGGGCT GAGGTGGGAGGATGGCTTGAGCCCAGGAGTTTTGAGATCAGCCTGGGCAA CACAGCAAGACCTCGTCTCTATGAAAATAAAAAAAACTGGGCCGGGCGC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0003 a0002c0032t0003	a0002c0032t0003g0017 a0002c0032t0003g0017	1	398	0.0025	848	c.184 others(867): Show c.1844-1227_1844-1226insCGGGCAGATCACGAGGTCAGGAGATC AAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAACACAA AAAATTAGCCGGGCGTGGTCGAGGGCGCCTGTGGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCAT CTCAAAAAACAAACAAAAAAAAAAAGAAATACAAGGCCACACAGTTAATT TCTTTCTTTCTTTTTTTTTTTTTTGAGACAGTGTCTCGCTTTGTCACTCA GGCTGGAGTGTAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCCCCTG GGTTCAAGCGATTCTCGTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGG CGCCTGCCACCACGCCTGGCTAATTTTTGTATTGTTAGTAGAGACGGGGT TTCACTATGTTGGCCAGGACGGTCTTGATCTCTTGACCTCGTGATTCGCC TGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCC GGCCCACAACAGTTAATTTCTATCCCCAGCCAGTGAAAACATAAAAATAC GGCCAGGAAGCCTGGAAGAAGGGGAGAAAAAGAGGCCGGGTGTGATGGCT CATGCCTGTAATCCCAGCACTTTGGAGGGCTGAGGTGGGAGGATGGCTTG AGCCCAGGAGTTTTGAGATCAGCCTGGGCAACACAGCAAGACCTCGTCTC TATGAAAATAAAAAAAACTGGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGG	TJP3	ENSG00000105289.15	transcript	ENST00000541714.7	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
TRIM48_chr11_55257155_55276114	55273429	T T	TTATATAT others(841): Show TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATATA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TACATAAAAATTATATATATATTATATATACATAAAAATTATATATATAT TATATATACATAAAAATTATATATATATAATATATATATATAAAAATTAT ATATATATATTATATATATATAAAAATTATATATATATATTATATATATA TAAAAATTATATATATATATTATATATATATAAAAATTATATATATATAT TATATATATATAAAAATTATATATATATATTATATATATATAAAAATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	272	0.0037	848	c.29 others(859): Show c.2994_*2995insTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATATAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATACATAAAAATTATATATATATTATATATACATAA AAATTATATATATATTATATATACATAAAAATTATATATATATAATATAT ATATATAAAAATTATATATATATATTATATATATATAAAAATTATATATA TATATTATATATATATAAAAATTATATATATATATTATATATATATAAAA ATTATATATATATATTATATATATATAAAAATTATATATATATATTATAT ATATATAAAAATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2316		chr11	TogoVar
TUBB2B_chr6_3219277_3232653	3221974	T T	TCACCACA others(841): Show TCACCACATCACCACCACCATCACCACCACCACCATCACCACCACTACCA CCACAATCACCACTACCACCATCGCCACCACTACTACCATCACCACCACC ACCACCATCACCACTACCACCACCACCACCACCACACTACCACATCACCA CCACCACCACCATTACCACCACCACCACCACCACTATCACCATCATCACC ATCACCACCATCACCACCACCACTACCACTACCACCAACACAATCACCAC CACGATCACCATCATCACCACCACCACCACCACCACTACCACTACCATCA TAATTACCACCACCATCACCACCACCACCACCACTATCACCATCATCACC ACCACCACCACCACCACTAGCACAACCACAACACTACCACATCACCACCA CCACTACCACTACTACCATCACCATCACCACCACCATCACCACCACCACC ACAATACTACCACATCACCACCACCACCATCATCATCACCACCACTACCA CCACCACTACCACCACCACCACCATCACTACTACCATCACCACCACCACC ACCATCACCACCACCACGACCACCACAACACTACCACATCACCACCACCA CCATCACCACTGCCACCACCACTACCACCACCACCACTACCACCATCGCC ACCATCACCACCACATCACCACCACCACCACCACTACTACCACCACCACC ACCATCACCACTACTACCATCACCACTACCACCACCACCACCATCACCAC CACCATCACCACCACCACTACCACTACCACCATCACAATCACCACCACCA TCACCACCACCACTACCACCACCACCACTACCACCATCGCCACCATCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	360	0.0028	848	c.27 others(859): Show c.2776_*2777insGTGATGGTGGCGATGGTGGTAGTGGTGGTGGTGG TAGTGGTGGTGGTGATGGTGGTGGTGATTGTGATGGTGGTAGTGGTAGTG GTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTAGTGGTGATGGT AGTAGTGGTGATGGTGGTGGTGGTGGTAGTAGTGGTGGTGGTGGTGGTGA TGTGGTGGTGATGGTGGCGATGGTGGTAGTGGTGGTGGTGGTAGTGGTGG TGGCAGTGGTGATGGTGGTGGTGGTGATGTGGTAGTGTTGTGGTGGTCGT GGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTAGTAGTGATGGTGGTGG TGGTGGTAGTGGTGGTGGTAGTGGTGGTGATGATGATGGTGGTGGTGGTG ATGTGGTAGTATTGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGATGG TAGTAGTGGTAGTGGTGGTGGTGATGTGGTAGTGTTGTGGTTGTGCTAGT GGTGGTGGTGGTGGTGGTGATGATGGTGATAGTGGTGGTGGTGGTGGTGA TGGTGGTGGTAATTATGATGGTAGTGGTAGTGGTGGTGGTGGTGGTGGTG ATGATGGTGATCGTGGTGGTGATTGTGTTGGTGGTAGTGGTAGTGGTGGT GGTGATGGTGGTGATGGTGATGATGGTGATAGTGGTGGTGGTGGTGGTGG TAATGGTGGTGGTGGTGGTGATGTGGTAGTGTGGTGGTGGTGGTGGTGGT AGTGGTGATGGTGGTGGTGGTGGTGATGGTAGTAGTGGTGGCGATGGTGG TAGTGGTGATTGTGGTGGTAGTGGTGGTGATGGTGGTGGTGGTGATGGTG GTGGTGATGTGGTG	TUBB2B	ENSG00000137285.11	transcript	ENST00000259818.8	protein_coding		2302		chr6	TogoVar
TWIST2_chr2_238843085_238915534	238870364	C C	CCACACCC others(841): Show CCACACCCCACACACACCACACCCCATACACACCACACCCCACACACACC ACACACCCCCCACACACCACACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACCCCATACACACC ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACACCCCCCACACACCACACACCCCACACACACCACACCCCACACACACC ACACCCCATACACACCACACCCCACACACACCACACACCCCCCACACACC ACACACCCCACACACACCACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACACCCCATACACACCACACCCCACACACACCAC ACCCCACACACACCACACCCCACACACACCACACACCCCATACACACCAC ACACCCCCCACACACCACACCCCACACACACCACACACCCCACACACACC ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACACCCCATACACACCACACACCCCCCACACACCACACCCCATACACACC ACACACCCCACACACACCACACCCCACACACACCACACCCCACACACCAC ACCCCACACACACCACACACCCCACACACACCACACCCCACACACACCAC ACACCCCCCCACACACCACACCCCATACACACCACACCCCACACACACCA CACACCCCACACACACCACACACCCCACACACACCACACAAACCACACAC CCTACACACCCCACACACACCACACACACACATCACATACCACACACAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	338	0.0030	848	c.35 others(867): Show c.35+21631_*35+21632insCACACCCCACACACACCACACCCCAT ACACACCACACCCCACACACACCACACACCCCCCACACACCACACACCCC ACACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACCCCATACACACCACACCCCACACACACCACACCCCACAC ACACCACACCCCACACACACCACACACCCCCCACACACCACACACCCCAC ACACACCACACCCCACACACACCACACCCCATACACACCACACCCCACAC ACACCACACACCCCCCACACACCACACACCCCACACACACCACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACCCCATAC ACACCACACCCCACACACACCACACCCCACACACACCACACCCCACACAC ACCACACACCCCATACACACCACACACCCCCCACACACCACACCCCACAC ACACCACACACCCCACACACACCACACCCCACACACACCACACCCCACAC ACACCACACCCCACACACACCACACACCCCATACACACCACACACCCCCC ACACACCACACCCCATACACACCACACACCCCACACACACCACACCCCAC ACACACCACACCCCACACACCACACCCCACACACACCACACACCCCACAC ACACCACACCCCACACACACCACACACCCCCCCACACACCACACCCCATA CACACCACACCCCACACACACCACACACCCCACACACACCACACACCCCA CACACACCACACAAACCACACACCCTACACACCCCACACACACCACACAC ACACATCACATACCACACACAA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
USP12_chr13_27061156_27176811	27063931	A A	AGGGAGGA others(841): Show AGGGAGGAGAGGAGGGAGGGAGGAAAGAAGGGAGGGAGAGGAAGGAAGGA AGGAAGAGAGAGAGGGAAGGGAGGGGAGGGGAGGGGATGGAGGAAGGGAG TAAAGGAGAAAGGAAGGGAGGGTGAAAGAGAGAGGGAGGGAGGAAGGAGG GAGGGGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGGG AGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAG GGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAA AGAGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAG GGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGG AGGAGGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGG GAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAG AGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAG GGAGAAAGAGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGGGAGGGAGAA AGAGAGGGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAG GGAGGGAGGGAGGAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGG AGGGAGGAGGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAG GAAGGAGGGAGGAGAGGGAGGGAGAAAGAGAGGGAGGGAGGGAGGGAGGA AGGAGGGAGGGGAGGGAAGGGAGGGAGGAAGGGAGGGAGAGGAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG03486.hp2 HG02622.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0154 a0001c0001t0001g0032 a0001c0001t0001g0154	2	167	0.0120	848	c.53 others(859): Show c.5351_*5352insCCTTCCTCCTCTCCCTCCCTTCCTCCCTCCCTTC CCTCCCCTCCCTCCTTCCTCCCTCCCTCCCTCCCTCTCTTTCTCCCTCCC TCTCCTCCCTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCT CCCTCCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCC TTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTC CCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCCTCCC TCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCCTCCCTC TCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCCTCCCTCCCTCTCTTTC TCCCTCCCTCTCCTCCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTC TCCTCCCTCCCTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCC CTCCTTCCTCCCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTT CCTCCCTCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCTTCCTCCCTCCC TCCCTCTCTTTCTCCCTCCCTCTCCTCCCTCCCTCCTCCCTCCCTCCCTC TCTTTCTCCCTCCCTCCCCTCCCTCCCTCCTCCCTCCCTCCCTCTCTTTC TCCCTCCCTCCCCTCCCTCCTTCCTCCCTCCCTCTCTCTTTCACCCTCCC TTCCTTTCTCCTTTACTCCCTTCCTCCATCCCCTCCCCTCCCCTCCCTTC CCTCTCTCTCTTCCTTCCTTCCTTCCTCTCCCTCCCTTCTTTCCTCCCTC CCTCCTCTCCTCCC	USP12	ENSG00000152484.14	transcript	ENST00000282344.11	protein_coding		2224		chr13	TogoVar
VCX_chrX_7838171_7849143	7844325	T T	TGGTGTGT others(841): Show TGGTGTGTGGGGAGGGAGGGAGGGAGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGTGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGTGTGGGGAGGGAGG GAGGAAGAGGAGGTGTGTGGGGTGGGAGGGAGGGAGGAAGAGGAGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGTTGTGTGGGGAGGGAGGGAGGAAGA GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTG GGGAGGGAGGGAGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG AAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGG GAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0074 a0074	a0074c0069 a0074c0069	a0074c0069t0007 a0074c0069t0007	a0074c0069t0007g0007 a0074c0069t0007g0007	1	341	0.0029	848	c.30 others(857): Show c.309_*310insGGTGTGTGGGGAGGGAGGGAGGGAGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTG TGGGGTGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGT GTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGTGGGAGGGAGGGAGG AAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGTTGTGTGGGGAG GGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTG TGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GAAGAGGTGTGTGGGGAGGGAGGGAGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAG GTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGG GAGGGAGGAAGA	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		183		chrX	TogoVar
ACAP3_chr1_1287391_1312930	1289847	G G	GTCTCTGC others(842): Show GTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCATCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCATCCC CCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCATCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCTCCGTCCCATGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	295	0.0034	849	c.37 others(860): Show c.3716_*3717insGCAGGGACACGGGACGGAGCAGAGACACGGGACG GAGCAGGGACACGGGACGGAGCAGGGACACGGGACGGAGCAGACACGGGG GACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGGGCAGAG ACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACATGGGACGGAGC AGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGG GACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGACGGAGCAGGGAC ACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAG AGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGA CGGAGCAGAGACACGGGACGGAGCAGGGACACGGGACGGAGCAGAGACAC GGGACGGAGCAGGGACACGGGACGGAGCAGGGACACGGGACGGAGCAGAC ACGGGGGATGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGC AGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGGGACACGGGACG GAGCAGAGACACGGGACGGAGCAGGGACACGGGACGGAGCAGGGACACGG GACGGAGCAGACACGGGGGATGGAGCAGAGACACGGGACGGAGCAGAGAC ACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGC AGGGACACGGGACGGAGCAGGGACACGGGACGGAGCAGACACGGGGGATG GAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACTCGG GGGACGGAGCAGAGA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2543		chr1	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(842): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTAG TCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCCA GGAGGCTGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCCAGCCTG GTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATTAAAAAAAA AAAAAAAAATACATATATATATATATATATATATTTAAAATTCCTTGTAA AAAGTGGCTGGGCGTGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAG GCCAAAGGAGGCCAATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	336	0.0030	849	c.94+ others(864): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT ATATATATGTATTTTTTTTTTTTTTTTTAATATATATTCTTTTTTTTTAA ACGGAGTCTCACTCTGTTACCAGGCTGGAGTGCAGTGGCACCATCTTGGC TCACTGCAACCTCAGCCTCCTGGGTTCAAGCAATTCTGCCTCAGGAGGGA GAGGCAGGGACTAGGTGGGACTACAGGCACACGCCTGGCTAATTTTTTTT TTTTTTTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTGCCCAGGC TGGTCTCCAACTCTTGAGCTCAGGGAAGTCTGCCCGCCTCGGCCTCCCAA AGTGCTAGGATTACAGGTGTGAGCCACCGTGCCCAGCCGATAAATATATT TTTAAAGTAGCAAACCAATCATTATGGGAAAGAATCGGTAATTTGGTTGA CTTCTGCACCGTTATTTTATAGCTAAGTATTGTATTTATTTTTGTTTCCA CATGGGAGAGAGGCACCAGCCACTATTCACTGTTCAGGGTTTCTTTTTCT TTTCTTTTTTCTTTTTTATTTTTGAGACAGTGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCACGATCTCGGTTCACTGCAAGCTCCGCCTCTCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCACGCCCGGCTAATTTTTTTTTTTTTGTATTTTTTAGTAGA GACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(842): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTAG TCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCCA GGAGGCTGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCCAGCCTG GTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATTAAAAAAAA AAAAAAATACATATATATATATATATATATATATTTAAAATTCCTTGTAA AAAGTGGCTGGGCGTGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAG GCCAAAGGAGGCCAATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0221 a0001c0001t0005g0221	1	336	0.0030	849	c.94+ others(864): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT ATATATATATGTATTTTTTTTTTTTTTTAATATATATTCTTTTTTTTTAA ACGGAGTCTCACTCTGTTACCAGGCTGGAGTGCAGTGGCACCATCTTGGC TCACTGCAACCTCAGCCTCCTGGGTTCAAGCAATTCTGCCTCAGGAGGGA GAGGCAGGGACTAGGTGGGACTACAGGCACACGCCTGGCTAATTTTTTTT TTTTTTTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTGCCCAGGC TGGTCTCCAACTCTTGAGCTCAGGGAAGTCTGCCCGCCTCGGCCTCCCAA AGTGCTAGGATTACAGGTGTGAGCCACCGTGCCCAGCCGATAAATATATT TTTAAAGTAGCAAACCAATCATTATGGGAAAGAATCGGTAATTTGGTTGA CTTCTGCACCGTTATTTTATAGCTAAGTATTGTATTTATTTTTGTTTCCA CATGGGAGAGAGGCACCAGCCACTATTCACTGTTCAGGGTTTCTTTTTCT TTTCTTTTTTCTTTTTTATTTTTGAGACAGTGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCACGATCTCGGTTCACTGCAAGCTCCGCCTCTCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCACGCCCGGCTAATTTTTTTTTTTTTGTATTTTTTAGTAGA GACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
CAMK2B_chr7_44212154_44330594	44254776	T T	TACCATCA others(842): Show TACCATCATCACCAACCACCATCACCATCACCACCACCATCACCACCAAC CACCATCACCATCACCACCACCATCACCACCAACCAACATCACCATCACC ACCACCATCACCACCAACCACCATCACCATCACCACCACCATCACCACCA ACCAACATCACCATCACCACCACCATCACCACCAACCAACATCACCATCA CCACCACCATCACCACCAACCAACATCACCATCACCACCACCATCACCAC CACCCAACATCACCATCACCACCACCATCACCACCAACCAACATCACCAT CACCACCACCATCACCACCAACCAACATCACCATCACCACCACCACCATC ACCACCAACCAACATCACCATCACCACCACCATCACCACCAACCGACATC ACCACCACTACCACCATCACCAGCATCATCACCACCATCACCACCACCAC GACCATCACCACCAACCAACATCACCATCACCACCACCATCACCACCAAC CAACATCACCATCACCACCACCATCACCACCAACCATCACCATCACCACC ACCATCACCACCAACCGACATCACCACCACTACCACCATCACCAGCATCA TCACCACCATCACCACCACCACCATCACCAACATCACCACCACCATTACC ATCACCACCACCACCACCACCATCACCATCATCACCATCACCATCATTAC CACCATGACCATCACCAACACCACTACCACCATCACTACCACCATCACCA TCACCAACACCACCACCACCACCATCACCATCACTGCCACCACCACCATC ATCACTATCACCATCACCACCATCACACCATTACCATTATCATCACCACC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0093 a0001c0001t0004g0093	1	242	0.0041	849	c.276 others(864): Show c.276-170_276-169insGGTGGTGATGATAATGGTAATGGTGTGATG GTGGTGATGGTGATAGTGATGATGGTGGTGGTGGCAGTGATGGTGATGGT GGTGGTGGTGGTGTTGGTGATGGTGATGGTGGTAGTGATGGTGGTAGTGG TGTTGGTGATGGTCATGGTGGTAATGATGGTGATGGTGATGATGGTGATG GTGGTGGTGGTGGTGGTGATGGTAATGGTGGTGGTGATGTTGGTGATGGT GGTGGTGGTGATGGTGGTGATGATGCTGGTGATGGTGGTAGTGGTGGTGA TGTCGGTTGGTGGTGATGGTGGTGGTGATGGTGATGGTTGGTGGTGATGG TGGTGGTGATGGTGATGTTGGTTGGTGGTGATGGTGGTGGTGATGGTGAT GTTGGTTGGTGGTGATGGTCGTGGTGGTGGTGATGGTGGTGATGATGCTG GTGATGGTGGTAGTGGTGGTGATGTCGGTTGGTGGTGATGGTGGTGGTGA TGGTGATGTTGGTTGGTGGTGATGGTGGTGGTGGTGATGGTGATGTTGGT TGGTGGTGATGGTGGTGGTGATGGTGATGTTGGTTGGTGGTGATGGTGGT GGTGATGGTGATGTTGGGTGGTGGTGATGGTGGTGGTGATGGTGATGTTG GTTGGTGGTGATGGTGGTGGTGATGGTGATGTTGGTTGGTGGTGATGGTG GTGGTGATGGTGATGTTGGTTGGTGGTGATGGTGGTGGTGATGGTGATGG TGGTTGGTGGTGATGGTGGTGGTGATGGTGATGTTGGTTGGTGGTGATGG TGGTGGTGATGGTGATGGTGGTTGGTGGTGATGGTGGTGGTGATGGTGAT GGTGGTTGGTGATGATGGT	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	4/23			chr7	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(842): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0003 a0007c0007t0003	a0007c0007t0003g0223 a0007c0007t0003g0223	1	336	0.0030	849	c.248 others(866): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGT CGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(842): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0248 a0001c0001t0002g0248	1	336	0.0030	849	c.248 others(866): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGT CGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(842): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCACCTCCT CCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCT TCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCC TTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTC CCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCTCCTCCCCCTCTTCC TCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCCTC CTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTT TCTCTTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0117 a0001c0002t0006g0117	1	270	0.0037	849	c.162 others(870): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTC CACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTC CCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCC TCTTCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCCCCCTCTTCCTC CCCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCT CCCCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCC CCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCCCTTCCTCTTC CTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL4A1_chr13_110143963_110312157	110255884	A A	AAGGGGGA others(842): Show AAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGG GGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGG AAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG GAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGG AAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGG AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG GAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGA AGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG GAGGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0001 a0001c0032t0001	a0001c0032t0001g0083 a0001c0032t0001g0083	1	344	0.0029	849	c.85- others(866): Show c.85-13151_85-13150insCTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCC TCCCTTCCTGCCTTCCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGC CTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTT CCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTT CCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCC CTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGC CTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTT CCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTC CTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCC TCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGC CTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTT CCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTT CCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCC CTCCCTTCCTGCCTTCCCCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(842): Show CGAGACCAGCCTGGCTAACAAGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCGGCGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAAA CAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAAC AGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTAA TTTTAACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAATA TTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTTTCACCCAGGCTGGAGTGTAGTGGCGCTGTCTTGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCGGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATAGATGTT TTACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA19084.hp1 NA18966.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0152 a0001c0001t0003g0001 a0001c0001t0003g0152	2	419	0.0048	849	c.-51 others(860): Show c.-5108_-5107insGAGACCAGCCTGGCTAACAAGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CGGCGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAAGAAAATAATAATAATAATA ATATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAAA CTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCAC TACTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAATC TCACGCAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTTTCACCCAGGCTGGAGTGTAGT GGCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACG CCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCGGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTC TTTTCTATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCACCGT GGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCA TGAGGGCAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(842): Show CGAGACCAGCCTGGCTAACAAGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCGGCGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAAA CAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAAC AGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTAA TTTTAACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAATA TTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTTGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC AATCTCCTGACCTCGTGATCCGCCGGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATAGATGTT TTACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0147 a0001c0001t0008g0147	1	419	0.0024	849	c.-51 others(860): Show c.-5108_-5107insGAGACCAGCCTGGCTAACAAGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CGGCGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAAGAAAATAATAATAATAATA ATATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAAA CTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCAC TACTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAATC TCACGCAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGT GGCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACG CCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCGGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTC TTTTCTATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCACCGT GGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCA TGAGGGCAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(842): Show CGAGACCAGCCTGGCTAACAAGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCGGCGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAAA CAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAAC AGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTAA TTTTAACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAATA TTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTTGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCGGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATAGATGTT TTACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00642.hp1 others(44): Show HG00140.hp2 HG00280.hp2 HG00642.hp1 HG00741.hp2 HG01081.hp2 HG01167.hp2 HG01169.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01934.hp2 HG01975.hp2 HG02004.hp2 HG02056.hp1 HG02602.hp1 HG02615.hp1 HG03669.hp2 HG03927.hp1 HG03942.hp1 HG06807.hp1 NA18747.hp1 NA18939.hp1 NA18945.hp2 NA18962.hp1 NA18963.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp1 NA18985.hp2 NA18992.hp1 NA18999.hp1 NA19000.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19062.hp2 NA19065.hp2 NA19091.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(5): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0019 a0001c0001t0050 a0001c0001t0051 a0001c0001t0072 a0006c0011t0003	a0001c0001t0003g0001 a0001c0001t0003g0047 a0001c0001t0003g0056 others(20): Show a0001c0001t0003g0001 a0001c0001t0003g0047 a0001c0001t0003g0056 a0001c0001t0003g0134 a0001c0001t0003g0141 a0001c0001t0003g0151 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0158 a0001c0001t0005g0001 a0001c0001t0005g0022 a0001c0001t0005g0047 a0001c0001t0005g0048 a0001c0001t0005g0146 a0001c0001t0008g0022 a0001c0001t0008g0148 a0001c0001t0008g0155 a0001c0001t0019g0001 a0001c0001t0019g0048 a0001c0001t0050g0001 a0001c0001t0051g0001 a0001c0001t0072g0183 a0006c0011t0003g0001	47	419	0.1122	849	c.-51 others(860): Show c.-5108_-5107insGAGACCAGCCTGGCTAACAAGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CGGCGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAAGAAAATAATAATAATAATA ATATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAAA CTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCAC TACTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAATC TCACGCAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGT GGCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACG CCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCGGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTC TTTTCTATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCACCGT GGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCA TGAGGGCAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(842): Show CGAGACCAGCCTGGCTAACAAGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCGGCGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAAA CAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAAC AGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTTAATAAAGCTA ATTTTAACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAAT ATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTTGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCGGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATAGATGTT TTACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0022 a0001c0001t0005g0022	1	419	0.0024	849	c.-51 others(860): Show c.-5108_-5107insGAGACCAGCCTGGCTAACAAGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CGGCGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAAGAAAATAATAATAATAATA ATATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAAA CTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCAC TACTTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAAT CTCACGCAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGT GGCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACG CCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCGGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTC TTTTCTATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCACCGT GGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCA TGAGGGCAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(842): Show CGAGACCAGCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCGGCGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAAA CAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAAC AGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTAA TTTTAACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAATA TTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTTGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATAGATGTT TTACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00673.hp2 HG01081.hp1 others(92): Show HG00558.hp2 HG00673.hp2 HG01081.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01192.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp2 HG01928.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02165.hp2 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03540.hp2 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18961.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18977.hp2 NA18983.hp2 NA18984.hp1 NA18990.hp2 NA18993.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19006.hp1 NA19011.hp2 NA19043.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19090.hp1 NA19091.hp2 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(20): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0025 a0001c0001t0029 a0001c0001t0030 a0001c0001t0034 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0054 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0069 a0001c0001t0070 a0001c0001t0082	a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0014 others(66): Show a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0021 a0001c0001t0002g0087 a0001c0001t0002g0096 a0001c0001t0002g0100 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0170 a0001c0001t0002g0176 a0001c0001t0002g0179 a0001c0001t0004g0003 a0001c0001t0004g0005 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0054 a0001c0001t0004g0089 a0001c0001t0004g0136 a0001c0001t0004g0139 a0001c0001t0004g0140 a0001c0001t0004g0162 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0181 a0001c0001t0006g0003 a0001c0001t0006g0014 a0001c0001t0006g0017 a0001c0001t0006g0021 a0001c0001t0006g0031 a0001c0001t0006g0039 a0001c0001t0006g0088 a0001c0001t0006g0097 a0001c0001t0006g0098 a0001c0001t0006g0099 a0001c0001t0006g0182 a0001c0001t0013g0015 a0001c0001t0013g0053 a0001c0001t0013g0090 a0001c0001t0013g0161 a0001c0001t0015g0003 a0001c0001t0015g0017 a0001c0001t0017g0007 a0001c0001t0017g0144 a0001c0001t0017g0160 a0001c0001t0021g0007 a0001c0001t0021g0159 a0001c0001t0025g0014 a0001c0001t0029g0052 a0001c0001t0029g0173 a0001c0001t0030g0046 a0001c0001t0034g0031 a0001c0001t0034g0135 a0001c0001t0036g0014 a0001c0001t0036g0172 a0001c0001t0038g0038 a0001c0001t0038g0049 a0001c0001t0039g0003 a0001c0001t0041g0052 a0001c0001t0042g0145 a0001c0001t0054g0007 a0001c0001t0065g0003 a0001c0001t0066g0005 a0001c0001t0067g0051 a0001c0001t0069g0015 a0001c0001t0070g0015 a0001c0001t0082g0038	95	419	0.2267	849	c.-51 others(860): Show c.-5108_-5107insGAGACCAGCCTGGCTAACACGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CGGCGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAAGAAAATAATAATAATAATA ATATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAAA CTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCAC TACTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAATC TCACGCAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGT GGCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACG CCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTC TTTTCTATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCACCGT GGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCA TGAGGGCAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(842): Show CGAGACCAGCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCGGCGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAAA CAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAAC AGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTAA TTTTAACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAATA TTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTTGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCGGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATAGATGTT TTACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG01891.hp2 others(5): Show HG01109.hp2 HG01891.hp1 HG01891.hp2 HG02280.hp2 HG03195.hp2 NA18522.hp2 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0004 a0001c0001t0006 a0001c0001t0025 others(4): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0025 a0001c0001t0035 a0001c0005t0024 a0001c0005t0025 a0001c0005t0071	a0001c0001t0004g0030 a0001c0001t0006g0138 a0001c0001t0025g0137 others(4): Show a0001c0001t0004g0030 a0001c0001t0006g0138 a0001c0001t0025g0137 a0001c0001t0035g0005 a0001c0005t0024g0025 a0001c0005t0025g0025 a0001c0005t0071g0025	8	419	0.0191	849	c.-51 others(860): Show c.-5108_-5107insGAGACCAGCCTGGCTAACACGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CGGCGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAAGAAAATAATAATAATAATA ATATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAAA CTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCAC TACTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAATC TCACGCAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGT GGCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACG CCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCGGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTC TTTTCTATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCACCGT GGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCA TGAGGGCAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(842): Show CGAGACCAGCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCGGCGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAAA CAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAAC AGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTAA TTTTAACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAATA TTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTTGGCT CACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATAGATGTT TTACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0177	1	419	0.0024	849	c.-51 others(860): Show c.-5108_-5107insGAGACCAGCCTGGCTAACACGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CGGCGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAAGAAAATAATAATAATAATA ATATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAAA CTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCAC TACTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAATC TCACGCAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGT GGCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACG CCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTC TTTTCTATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCACCGT GGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCA TGAGGGCAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(842): Show CGAGACCAGCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCGGCGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAAA CAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAAC AGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTAA TTTTAACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAATA TTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTTGGCT CACTGCAAGCTCCGCCTCGCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATAGATGTT TTACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG03130.hp1 HG03471.hp1 others(1): Show HG02630.hp1 HG03130.hp1 HG03471.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0015 a0001c0001t0002 a0001c0001t0006 a0001c0001t0015	a0001c0001t0002g0024 a0001c0001t0006g0024 a0001c0001t0015g0024 a0001c0001t0002g0024 a0001c0001t0006g0024 a0001c0001t0015g0024	4	419	0.0096	849	c.-51 others(860): Show c.-5108_-5107insGAGACCAGCCTGGCTAACACGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CGGCGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAAGAAAATAATAATAATAATA ATATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAAA CTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCAC TACTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAATC TCACGCAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGT GGCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCGCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACG CCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTC TTTTCTATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCACCGT GGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCA TGAGGGCAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
GALNT9_chr12_132191372_132334589	132243067	C C	CAGGGCCC others(842): Show CAGGGCCCTCCCTATACCCATTACACACACAACACACACCCTTCCCGGGG CCGTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTC CCTATACCCATTACACACACAACACACACTTCCCGGGGCCCTCCCTATAC CCATTACACACACAACACACCCTTCCAGGGGCCCTCCCTATCCCCATTAC ACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTTACACAC ACGCCACGCCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCC ACACCCCATTCCCGGGGCCCTCCCTATACCCATTACACACACACCACACA CCCTTCCAGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTT CCAGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCAGG GGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCCAGGGCCG TCCCTATACCCATTACACACACAACACACACCCTTCCCGGGGCCATCCCT ATACCCATTACACACACGCCACACACCCTTCCCAGGCCGTCCCTATACCC ATTACAAACACAACACACACCCTTCCAGGGGCCCTCCCTATACCCATTAC ACACACGCCACACCCCCTTCCCGGGGCCGTCCCTATCCCCATTACACACA CACCACACACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACACCA CACCCCCTTCCCGGGGCCCTCCCTATACCTATTGCACACACAACACACAC TTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0004 a0001c0013t0004	a0001c0013t0004g0095 a0001c0013t0004g0095	1	183	0.0055	849	c.107 others(868): Show c.1077+4842_1077+4843insTGGAAGGGTGTGTGGCGTGTGTGTAA TGGGTATAGGGAGGGCCCCGGGAAGTGTGTGTTGTGTGTGCAATAGGTAT AGGGAGGGCCCCGGGAAGGGGGTGTGGTGTGTGTGTAATGGGTATAGGGA GGGCCCCGGGAAGGGTGTGTGGTGTGTGTGTAATGGGGATAGGGACGGCC CCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGG AAGGGTGTGTGTTGTGTTTGTAATGGGTATAGGGACGGCCTGGGAAGGGT GTGTGGCGTGTGTGTAATGGGTATAGGGATGGCCCCGGGAAGGGTGTGTG TTGTGTGTGTAATGGGTATAGGGACGGCCCTGGGAAGGGTGTGTGGCGTG TGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGGCGTGTGTGT AATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGGCGTGTGTGTAATGG GTATAGGGAGGGCCCCTGGAAGGGTGTGTGGTGTGTGTGTAATGGGTATA GGGAGGGCCCCGGGAATGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAG GGCCCCGGGAAGGGGGCGTGGCGTGTGTGTAAATGGGTATAGGGAGGGCC CCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGGATAGGGAGGGCCCCTGG AAGGGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGTGTG TGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCG TGTGTGTAATGGGTATAGGGACGGCCCCGGGAAGGGTGTGTGTTGTGTGT GTAATGGGTATAGGGAGGGCCCT	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GPIHBP1_chr8_143208218_143222170	143218313	A A	AACACCAC others(842): Show AACACCACCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACA CCACCCCCAACACCATCCCCAACACCACCCCAACACCACCCCCAACACCA TCCCCAACACCACCCCAACACCACCCCCAACACCATCCCCAACACCACCC CCAACACCACCCCCAACACCATCCCCAACACCACCCCCAACACCACCCCC ACACTGCCCCCACACCAGCCCCAACACCACCCCCAACACCAGCCCCAACA CCACCCCAATACCTCCCCAACACCACCCCCAACACCACCCAACACCACCC CCAACACCATCCCCAACACCCCAATAACCCCCCAACACCACCACCAACAC CACCCAACACCATGCCCCACACCACCCCCAACACCACCCCCAACACCACC TCCACACCACCCCCAACACCACCCTAACACCACCTCACACCATCCCCAAC ACCACCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACACCA CCCCCAACACCATCCCCAACACCACCCCAACACCACCCCCAACACCATCC CCAACACCACCCCAACACCACCCCCAACACCATCCCCAACACCACCCCAA CACCACCCCCAACACCATCCCCAACACCACCCCCAACACCACCCCCAACA CCATCCCCAACACCACCCCCAACACCACCCCCACACTGCCCCCACACCAG CCCCAACACCACCCCCAACACCAGCCCCAACACCACCCCAATACCTCCCC AACACCACCCCCAACACCACCCAACACCACCCCCAACACCATCCCCAACA CCCCAATAACCCCCCAACACCACCACCAACACCACCCAACACCATGCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	106	0.0094	849	c.27 others(860): Show c.2795_*2796insACACCACCCCAACACCACCCCCAACACCACCCCC AACACCACCCCAACACCACCCCCAACACCATCCCCAACACCACCCCAACA CCACCCCCAACACCATCCCCAACACCACCCCAACACCACCCCCAACACCA TCCCCAACACCACCCCCAACACCACCCCCAACACCATCCCCAACACCACC CCCAACACCACCCCCACACTGCCCCCACACCAGCCCCAACACCACCCCCA ACACCAGCCCCAACACCACCCCAATACCTCCCCAACACCACCCCCAACAC CACCCAACACCACCCCCAACACCATCCCCAACACCCCAATAACCCCCCAA CACCACCACCAACACCACCCAACACCATGCCCCACACCACCCCCAACACC ACCCCCAACACCACCTCCACACCACCCCCAACACCACCCTAACACCACCT CACACCATCCCCAACACCACCCCAACACCACCCCCAACACCACCCCCAAC ACCACCCCAACACCACCCCCAACACCATCCCCAACACCACCCCAACACCA CCCCCAACACCATCCCCAACACCACCCCAACACCACCCCCAACACCATCC CCAACACCACCCCAACACCACCCCCAACACCATCCCCAACACCACCCCCA ACACCACCCCCAACACCATCCCCAACACCACCCCCAACACCACCCCCACA CTGCCCCCACACCAGCCCCAACACCACCCCCAACACCAGCCCCAACACCA CCCCAATACCTCCCCAACACCACCCCCAACACCACCCAACACCACCCCCA ACACCATCCCCAACACCCCAATAACCCCCCAACACCACCACCAACACCAC CCAACACCATGCCCC	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1144		chr8	TogoVar
HPCAL1_chr2_10297904_10432604	10399223	C C	CCACCACC others(842): Show CCACCACCACCACCACCACCATCACCACCACCATCACCACCATCACCATC ATCACCGCCACCACCACCACCACCACCGCCGCCGCCGCCGCCACCGCCGC CACCACCACCACCATCACCATCATCACCGCCGCCACCACCACCACCATCA CCATCACCACCACCACCACCACCACCATCACCATCATCACCACCACCATC ACCATCACCACCACCACCACCACCACCACCACCATCACCACCACCATCAC CATCACCACCACCACCACCACCACCATCACCATCATCACCACCACCACCA CCACCACCACCATCACCATCATCACCGCCACCACCACCACCACCATCACC ATCATCACCACCACCACCACCACCACCATCACCATCATCACCACCACCAC CACCACCACCATCACCATCATCACCACCACCACCACCACCACCATCACCA TCATCACCGCCACCACCACCACCACCATCACCATCATCACCGCCACCACC ACCACCATCACCATCATCACCGCCGCCACCACCACCACCATCACCATCAT CACCGCCACCACCACCACCACCATCACCACCACAACCACCACCACCACCA CCATCACCACCACTACCACCACCACCACCACCATCACCACCACCACTACC ATCATCACCACCACCACCACCACCACCACCATCACCATCACCACCACCAC CACCATCACCATCACCACCACCACCACCATCACCATCATCACCACCATCA CCGCCACCATCACCATCACCACCACCACCACCACCACCACCACCATCACC ACCACCACTACCATCATCACCACCACCACCACCACCACCACCATCACCAT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02683.hp1 HG03942.hp2 HG01978.hp1 HG02683.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0226 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0226	3	314	0.0096	849	c.-25 others(866): Show c.-25+2320_-25+2321insCCATCACCACCACCATCACCACCATCAC CATCATCACCGCCACCACCACCACCACCACCGCCGCCGCCGCCGCCACCG CCGCCACCACCACCACCATCACCATCATCACCGCCGCCACCACCACCACC ATCACCATCACCACCACCACCACCACCACCATCACCATCATCACCACCAC CATCACCATCACCACCACCACCACCACCACCACCACCATCACCACCACCA TCACCATCACCACCACCACCACCACCACCATCACCATCATCACCACCACC ACCACCACCACCACCATCACCATCATCACCGCCACCACCACCACCACCAT CACCATCATCACCACCACCACCACCACCACCATCACCATCATCACCACCA CCACCACCACCACCATCACCATCATCACCACCACCACCACCACCACCATC ACCATCATCACCGCCACCACCACCACCACCATCACCATCATCACCGCCAC CACCACCACCATCACCATCATCACCGCCGCCACCACCACCACCATCACCA TCATCACCGCCACCACCACCACCACCATCACCACCACAACCACCACCACC ACCACCATCACCACCACTACCACCACCACCACCACCATCACCACCACCAC TACCATCATCACCACCACCACCACCACCACCACCATCACCATCACCACCA CCACCACCATCACCATCACCACCACCACCACCATCACCATCATCACCACC ATCACCGCCACCATCACCATCACCACCACCACCACCACCACCACCACCAT CACCACCACCACTACCATCATCACCACCACCACCACCACCACCACCATCA CCATCACCACCACCACCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
ICA1_chr7_8108184_8267167	8152646	A A	ACCACCAC others(842): Show ACCACCACTACCACCACCACCACCATCTCCTTCACCACCACTACCCCCAC CACTACCACCATCACCTCCTCCACCATCACCACCACCACCACAACCACCA TCTCCTTCATCACCACTACCCCCACCACTATCACCATCACCATCACCTCC ACCACCACCACCATCTCCTTCAACACCACTACCCCCACCACTACCACCAT CACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTACCACCACCA CCACCATCTCCTTCACCACCACTACCCCCAGCACTACCACCATCACCTCT TCCACCACTACCACCATCTCCTCCACCACCACTACCACCACCACCACCAT TATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCCTCCA CCATCACCACCACCACCACAACCACCATCTCCTTCATCACCACTACCCCC ACCACTACCACCATCACCTCTTCCACCACTACCACCATCTCCTCCACCAC CACTACCACCACCACCACCATCTCCTTCACCACCACTACCCCCAGCACTA CCACCATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTACC ACCACCACCACCATTATCTCCTTCATCACCACTACCCCCACCACTACCAC CATCACCTCCTCCACCATCACCACCACCACCACAACCACCATCTCCTTCA TCACCACTACCCCCACCACTACCACCATCACCTCTTCCACCACTACCACC ATCTCCTCCACCACCACTACCACCACCACCACCATCTCCTTCACCACCAC TACCCCCAGCACTACCACCATCACCTCCTCCACCACTACCACCATCTCCT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	274	0.0037	849	c.804 others(866): Show c.804+4469_804+4470insAGGAGATGGTGGTAGTGGTGGAGGAGGT GATGGTGGTAGTGCTGGGGGTAGTGGTGGTGAAGGAGATGGTGGTGGTGG TGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTG GTAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGT GGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGA AGGAGATAATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTA GTGGTGGAAGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGTGGTGAAGGA GATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGG AAGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTG GTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGG GGTAGTGGTGATGAAGGAGATAATGGTGGTGGTGGTGGTAGTGGTGGTGG AGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGCTGGGGGTA GTGGTGGTGAAGGAGATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGAT GGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGT TGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGTGGTG GGGGTAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGT GGAGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGGTGAAGGAGATGG TGGTGGTGGTGGTAGTGGTGG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(842): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGA GGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAG AGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGG GGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGG AGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGG AGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGG GGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGC AGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGG GAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAG GAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAG GGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGG GAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGG GGCAGGGAGGACGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGA GAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0085 a0001c0008t0001g0085	1	204	0.0049	849	c.978 others(866): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGG CAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAG GAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAG AGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGA TGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCA GGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAG AGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGG GGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGC AGGGAGGACGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGG GAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGG GGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGA GGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGACGGGCAG GGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGG CAAGGAGGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
JUND_chr19_18274694_18286622	18284532	T T	TAATAATA others(842): Show TAATAATAATAATAATAATAATAATAATAAAGACCTGGCCGTGCGCGATG GCTCACTCCTATAATCCCAGCACTTTGGGAGTCCAAAGCAGGTGGATCAT GAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTC TACTAAAAATTCAAAAATTAGCTGGGCGTGGTGGCGAATGCCTGTAGTCC CTGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCGGGAGGCGG AGGCTACAGTGAGCCAAGATTACGCCACTGCACTGCAGCCTGGGCAAAAG AGTAAGAATCCGTCTCAATAATAATAATAATAATAATAATAATAATGATA GGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCCCTTTGGGAGGCTGA GGCGGGCGGATCACCTGAGGTCGAGCGTTCGAGACCAGCTTGGCCAGCAT GGTGAAACCCCGTCTCCACTACAAATACAAAAATTAGCCAGGTGTGGTGG TGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGAAGAATCGCT TGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCAGAGGTTG CGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAACCCGTCTCTACTAAAAATACAAA ATGAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATCGGTTGAACCCAGGAATTGGAGGTTGCGGTGAGCCG AGATTGCACCATTGCACTCCAGCCTGGGCAACGAGCGAAACTCTGCCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	408	0.0025	849	c.-30 others(860): Show c.-3049_-3048insGTAGGCAGAGTTTCGCTCGTTGCCCAGGCTGGAG TGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTCAAC CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCC ACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGCG CGATCTTGGCTCACCGCAACCTCTGGCACGATCTTGGCTCACTGCAACCT CTGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAGCTG GGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTAGTG GAGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGACCTC AGGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTATTATT GAGACGGATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCT TGGCTCACTGTAGCCTCCGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCA GCCTCCCAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAAT TTTTGAATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTC TTGATCTCCTGACCTCATGATCCACCTGCTTTGGACTCCCAAAGTGCTGG GATTATAGGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTATT ATTATTATTATTATT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2911		chr19	TogoVar
JUND_chr19_18274694_18286622	18284532	T T	TAATAATA others(842): Show TAATAATAATAATAATAATAATAATAATAAAGACCTGGCCGTGCGCGATG GCTCACTCCTATAATCCCAGCACTTTGGGAGTCCAAAGCGGGTGGATCAT GAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTC TACTAAAAATTCAAAAATTAGCTGGGCGTGGTGGCGAATGCCTGTAGTCC CTGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCGGGAGGCGG AGGCTACAGTGAGCCAAGATTACGCCACTGCACTGCAGCCTGGGCAAAAG AGTAAGAATCCGTCTCAATAATAATAATAATAATAATAATAATAATGATA GGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCCCTTTGGGAGGCTGA GGCGGGCGGATCACCTGAGGTCGAGCGTTCGAGACCAGCTTGGCCAGCAT GGTGAAACCCCGTCTCCACTACAAATACAAAAATTAGCCAGGTGTGGTGG TGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGAAGAATCGCT TGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCAGAGGTTG CGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAACCCGTCTCTACTAAAAATACAAA ATGAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATCGGTTGAACCCAGGAATTGGAGGTTGCGGTGAGCCG AGATTGCACCATTGCACTCCAGCCTGGGCAACGAGCGAAACTCTGCCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	408	0.0025	849	c.-30 others(860): Show c.-3049_-3048insGTAGGCAGAGTTTCGCTCGTTGCCCAGGCTGGAG TGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTCAAC CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCC ACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGCG CGATCTTGGCTCACCGCAACCTCTGGCACGATCTTGGCTCACTGCAACCT CTGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAGCTG GGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTAGTG GAGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGACCTC AGGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTATTATT GAGACGGATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCT TGGCTCACTGTAGCCTCCGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCA GCCTCCCAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAAT TTTTGAATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTC TTGATCTCCTGACCTCATGATCCACCCGCTTTGGACTCCCAAAGTGCTGG GATTATAGGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTATT ATTATTATTATTATT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2911		chr19	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(842): Show ATATATTTATATATATTTATATATATTTATATATATATTTATATATATAT TTATATATATATTATTTATATATATATTTATATATATTTATATATATTTA TATATATTTATATATATTTATATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATATTTATATATATTTATATATATTTATA TATATTTATATATATATTTATATATATTTATATATATTTATATATATATT TATATATATATTTATATATATATTTATATATATTTATATATATATTTATA TATATATATTTTTATATATATTTATATATATTTTTATATATAGTTATATA TATTTATATATAGTTATATATATTTATGTATAGTTATATATATTTATGTA TAGTTATATATAGTTATGTATAGTTATATATATAGTTATGTATAGTTATA TATATAGTTATATATATATATTTTTATATATATAGTTATATATATATATT TTTATATATATAGTTATATATATATATTTTTATATATATAGTTATATATA TATATTTTTATATATATAGTTATATATATATTTATATATATAGTTATATA TTTATATATATTTATATATATTTATATATATATTTATATATTTATTTATA TATATTTATATATGTATTTATATATATTTATATATATTTATATGTATTTA TATATATTTATATATATTTATATATATATATATAAATATATTTATATATA TAAATATAAATATTTATATATATTTATATATATTTATATATATATTTATG TATATTTATATATATTTATATATATATTTATGTATATTTATATATGTATT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	260	0.0039	849	c.125 others(866): Show c.125+9673_125+9674insATTTATATATATTTATATATATTTATAT ATATATTTATATATATATTTATATATATATTATTTATATATATATTTATA TATATTTATATATATTTATATATATTTATATATATTTATATATATATTTA TATATATATTTATATATATTTATATATATATTTATATATATATTTATATA TATTTATATATATTTATATATATTTATATATATATTTATATATATTTATA TATATTTATATATATATTTATATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATATATTTTTATATATATTTATATATATT TTTATATATAGTTATATATATTTATATATAGTTATATATATTTATGTATA GTTATATATATTTATGTATAGTTATATATAGTTATGTATAGTTATATATA TAGTTATGTATAGTTATATATATAGTTATATATATATATTTTTATATATA TAGTTATATATATATATTTTTATATATATAGTTATATATATATATTTTTA TATATATAGTTATATATATATATTTTTATATATATAGTTATATATATATT TATATATATAGTTATATATTTATATATATTTATATATATTTATATATATA TTTATATATTTATTTATATATATTTATATATGTATTTATATATATTTATA TATATTTATATGTATTTATATATATTTATATATATTTATATATATATATA TAAATATATTTATATATATAAATATAAATATTTATATATATTTATATATA TTTATATATATATTTATGTATATTTATATATATTTATATATATATTTATG TATATTTATATATGTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC7_chr1_69562922_70149364	69916109	T T	TATATATA others(842): Show TATATATATTATATACATATTTTATATATATAATATATATTATATACCTA TTTTATATATATAATATATATATTATATACATATTTTATATATATAATAT ATATATTATATACATATTTTATATATATAATATATATATTATATACATAT TTTATATATATAATATATATTATATACATATTTTATATATATTATATATT ATATACATATTTCATATATATAATATATATATTATATACATATTTCATAT ATATAATATATATTATATACATATTTCATATATAATATATATATTATATA CATATTTTATATATTATATATATTATATACATATTTTATATATTATATAT ATTATATACATATTTTATATATTATATATATTATATACATATTTTATATA TAATATATATAATATACATATTTTATATATAATATACATATTTTATATAT ATAATATATATAATATACATATTTTATATATATAATATATATAATATACA TATTTTATATATATAATATATATAATATACATATTTTATATATAATATAT ATAATATACATATTTTATATATATAATATATATAATATACATATTTTATA TATAATATATATTATATACATATTTTATATATATAATATATATTATATAC ATATTTTATATATATAATATATATTATATACATATTTTATATATAATATA TATTATATACATATTTTATATATATAATATATATTATATACATATTTTAT ATATATAATATATATTATATACATATTTTATATATATAATATATATTATA TACATATTTTATATATATAATATATATTATATACATATTTTATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0067 a0001c0001t0069g0067	1	108	0.0093	849	c.648 others(868): Show c.648-15359_648-15358insTATATACCTATTTTATATATATAATA TATATATTATATACATATTTTATATATATAATATATATATTATATACATA TTTTATATATATAATATATATATTATATACATATTTTATATATATAATAT ATATTATATACATATTTTATATATATTATATATTATATACATATTTCATA TATATAATATATATATTATATACATATTTCATATATATAATATATATTAT ATACATATTTCATATATAATATATATATTATATACATATTTTATATATTA TATATATTATATACATATTTTATATATTATATATATTATATACATATTTT ATATATTATATATATTATATACATATTTTATATATAATATATATAATATA CATATTTTATATATAATATACATATTTTATATATATAATATATATAATAT ACATATTTTATATATATAATATATATAATATACATATTTTATATATATAA TATATATAATATACATATTTTATATATAATATATATAATATACATATTTT ATATATATAATATATATAATATACATATTTTATATATAATATATATTATA TACATATTTTATATATATAATATATATTATATACATATTTTATATATATA ATATATATTATATACATATTTTATATATAATATATATTATATACATATTT TATATATATAATATATATTATATACATATTTTATATATATAATATATATT ATATACATATTTTATATATATAATATATATTATATACATATTTTATATAT ATAATATATATTATATACATATTTTATATATATAATATATATTATATACA TATTTTATATATATAATATATAT	LRRC7	ENSG00000033122.21	transcript	ENST00000651989.2	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
LYPD8_chr1_248734415_248760759	248742282	G G	GCGGGGGA others(842): Show GCGGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGTCGGGGGAGATTAT GCTCTGGTGGGGATGTTGGCAGCCGGGGAGGTTATGCTCTGGTGGGGATG TTGGCAGCCGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCCGGGGAG ATTATGCTCTGGTGGGGATGTTGGCAGTCGGGGGAGATTATGCTCTGGTG GGGATGTTGGCAGTGGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCG GGGGAGATTATGCTCTGGTGGGGATGTTGGCAGTCGGGGGAGATTATGCT CTGGTGGGGATGTTGGCAGCCGGGGAGGTTATGCTCTGGTGGGGATGTTG GCAGCCGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCCGGGGAGATT ATGCTCTGGTGGGGATGTTGGCAGTCGGGGGAGATTATGCTCTGGTGGGG ATGTTGGCAGTGGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCGGGG GAGATTATGCTCTGGTGGGGATGTTGGCAGTCGGGGGAGATTATGCTCTG GTGGGGATGTTGGCAGCCGGGGAGGTTATGCTCTGGTGGGGATGTTGGCA GCCGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCCGGGGAGATTATG CTCTGGTGGGGATGTTGGCAGTCGGGGGAGATTATGCTCTGGTGGGGATG TTGGCAGTGGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCCGGGGGA GATTATGCTCTGGTGGGGATGTTGGCAGCCGGGGAGATTATGCTCTGGTG GGGATGTTGGCAGCCGGGGGAGATTACGCTCTGGTGGGGATGTTGGCAGC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	374	0.0027	849	c.476 others(866): Show c.476-2434_476-2433insGCTGCCAACATCCCCACCAGAGCGTAAT CTCCCCCGGCTGCCAACATCCCCACCAGAGCATAATCTCCCCGGCTGCCA ACATCCCCACCAGAGCATAATCTCCCCCGGCTGCCAACATCCCCACCAGA GCATAATCTCCCCCACTGCCAACATCCCCACCAGAGCATAATCTCCCCCG ACTGCCAACATCCCCACCAGAGCATAATCTCCCCGGCTGCCAACATCCCC ACCAGAGCATAATCTCCCCGGCTGCCAACATCCCCACCAGAGCATAACCT CCCCGGCTGCCAACATCCCCACCAGAGCATAATCTCCCCCGACTGCCAAC ATCCCCACCAGAGCATAATCTCCCCCGCTGCCAACATCCCCACCAGAGCA TAATCTCCCCCACTGCCAACATCCCCACCAGAGCATAATCTCCCCCGACT GCCAACATCCCCACCAGAGCATAATCTCCCCGGCTGCCAACATCCCCACC AGAGCATAATCTCCCCGGCTGCCAACATCCCCACCAGAGCATAACCTCCC CGGCTGCCAACATCCCCACCAGAGCATAATCTCCCCCGACTGCCAACATC CCCACCAGAGCATAATCTCCCCCGCTGCCAACATCCCCACCAGAGCATAA TCTCCCCCACTGCCAACATCCCCACCAGAGCATAATCTCCCCCGACTGCC AACATCCCCACCAGAGCATAATCTCCCCGGCTGCCAACATCCCCACCAGA GCATAATCTCCCCGGCTGCCAACATCCCCACCAGAGCATAACCTCCCCGG CTGCCAACATCCCCACCAGAGCATAATCTCCCCCGACTGCCAACATCCCC ACCAGAGCATAATCTCCCCCG	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6			chr1	TogoVar
MAML2_chr11_95971598_96348195	96089966	C C	CCATTGGT others(842): Show CCATTGGTGTGCTTGGGTCCTAGAAACTCGGGTGGGGACTAAGAGGTCAG GAATATGGTTTATAGTTGCTGATATCAGCAGTATGTCCGGAAACAGACCA GAGGATGTTGGAGGTGGCAGGGAGGCTCCCAGAAAAGGACTGATGGGGCA CCAAAGATATATGTTTCTACGTGGTGGCTCGTGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGAGGGCGGATCACTAGCTCAGGAATTCTAGACCAGCA TGGCCAACTTGGTGAAACCCCATCTCTACTAAAAATATAAAAATTAGCCA GGCTTGGTGATGCCCGCCTGTAATCCGAGCTACTCAGGAGGCTGAGGCAG GAGAATTGCTTGAACCTGGGAAGTGGAAGTTGCAGCGAGCCGAGATCAAG CCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAA AAAAAAAGATATATATTTCCTTTTGTAAATTGTTTATTTTGGCTAACTCC ATAATGTTTACCCTCAGGAAGGCTAACAGTCACACAGATATGTATGTATG TATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTATA TAAAATTTCTTTAGCGTCTCTAAAGAATAGAGTTTAGGATATGTTTTTAT CCCAAAGGACTTAATCTACTATGTAGATTATGTAAGTAGGGCTCAACATT AGAAGAATATTCTTTTTAAGAATTCCACAATGATCTAGGACTCCAGCAAA TCCTACCTGTGAGCTGTAGATCCTAGTGGCTGAAAGTATAGGCTTCAAAG TAGATCATCAGAATCCTGCAGCTGCTACTCATTATCTGTGCGAACTTGGG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0005 a0005c0007t0005	a0005c0007t0005g0005 a0005c0007t0005g0005	1	230	0.0044	849	c.213 others(868): Show c.2139+1925_2139+1926insCCCAAGTTCGCACAGATAATGAGTAG CAGCTGCAGGATTCTGATGATCTACTTTGAAGCCTATACTTTCAGCCACT AGGATCTACAGCTCACAGGTAGGATTTGCTGGAGTCCTAGATCATTGTGG AATTCTTAAAAAGAATATTCTTCTAATGTTGAGCCCTACTTACATAATCT ACATAGTAGATTAAGTCCTTTGGGATAAAAACATATCCTAAACTCTATTC TTTAGAGACGCTAAAGAAATTTTATATACACACACATACACACACACACA CACACACACACACACACACACATACATACATACATATCTGTGTGACTGTT AGCCTTCCTGAGGGTAAACATTATGGAGTTAGCCAAAATAAACAATTTAC AAAAGGAAATATATATCTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCTTGATCTCGGCTCGCTGCAACTTCC ACTTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTCGG ATTACAGGCGGGCATCACCAAGCCTGGCTAATTTTTATATTTTTAGTAGA GATGGGGTTTCACCAAGTTGGCCATGCTGGTCTAGAATTCCTGAGCTAGT GATCCGCCCTCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCA CCACGTAGAAACATATATCTTTGGTGCCCCATCAGTCCTTTTCTGGGAGC CTCCCTGCCACCTCCAACATCCTCTGGTCTGTTTCCGGACATACTGCTGA TATCAGCAACTATAAACCATATTCCTGACCTCTTAGTCCCCACCCGAGTT TCTAGGACCCAAGCACACCAATG	MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/4			chr11	TogoVar
NCAPG2_chr7_158626169_158709804	158667493	G G	GCCTTACC others(842): Show GCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTC CCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACT ACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCT TACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCC GCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGG GTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCC ACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCT CCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTC CCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACT ACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCT TACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCC GCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGG GTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTAC CCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGC CCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGG TCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCA CTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTC	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	378	0.0027	849	c.148 others(868): Show c.1480-2744_1480-2743insGAGGGCGGAGGGACCCAGTAGTGGGT AAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAG TAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGA GGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGG GAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTA GTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGG GACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCG GGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGG GTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCC AGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCG GAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTA AGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGT AGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGG GACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAG GGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGG GTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCC AGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCG GAGGGACCCAGTAGTGGGTAAGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158667732	C C	CTACTGGG others(842): Show CTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTC CCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCC CTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTA CTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTT ACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCG CCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGG GTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACC CACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCC TCCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTC CCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACT ACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCT TACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCC GCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTG GGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACC CACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCC GCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCC CTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	378	0.0027	849	c.148 others(868): Show c.1480-2983_1480-2982insAGTGGGTAAGGCGGGCGGAGGGACCC AGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCG GAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAA GGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTA GTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGG ACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCG GGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGG GTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCC AGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGG AGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAA GGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGT AGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAG GGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGA GGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTG GGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACC CAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGC GGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGT AAGGCGGGCGGAGGGACCCAGTA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NRXN3_chr14_78165373_79873291	79257430	G G	GTGGTGGT others(842): Show GTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGT GGTGGTAGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGG TAGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAATGGTG GTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGATGGTGGTGATGGTGGTGGTAGTGATGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGGTAGTGATGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGTGGTAGTGATGGTGGTGGTGGTGGTAGTGATG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTAATGATGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGTAGTGATGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAATGGTGGTGGTGATGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0016 a0002c0005t0016	a0002c0005t0016g0022 a0002c0005t0016g0022	1	24	0.0417	849	c.326 others(872): Show c.3263-209778_3263-209777insGGTGGTGGTGGTGATGGTGGTG ATGGTGGTGGTGGTGGTGGTAGTGATGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTAGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTAATGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTAGTG ATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTAGTGATGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTAGTGATGGTGGTGG TGGTGGTAGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTAA TGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGT GGTAGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAATGG TGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGATGGTGGTGGTGGT	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NXN_chr17_794310_984776	841642	T T	TGACCACG others(842): Show TGACCACGGAGCATCTCACACCCACGGGCAGGTCCCCCCGACCACGGCGC ATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGG GCGAGCAGGTCCTCCCGACCATGGAGCATCTCACACCCGCGAGCAGGTCC TCCCGACCATGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCGACCACGG AGCATCTCACACGGGCGAGCAGGTCCTCCCGACCATGGAGCATCTCACGC CGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACGGGCGAGCAGG TCCCCCCTGACCACGGAGCATCTCACACCCGCGAGCAGGTCCCCCCGACC ACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCT CACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGA GCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCC CTGACCACGGAGCATCTCACACCCACAGGCAGGTCCCCCCGACCACGGCG CATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACC CACGGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTC CACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCA CGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTC ACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAG CAGGTCCACCCTGACCACGGCGCATCTCACATGGGCGAGCAGGTCCCCCC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	242	0.0041	849	c.361 others(868): Show c.361-15565_361-15564insGGGGGGACCTGCTCGCCCATGTGAGA TGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGT CAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACC TGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGT GTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGC CGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGATGCTCCGTGGTCAGGGG GGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCTGT GGGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGAT GCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTC AGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCT GCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCGGGTGT GAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCG TGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCTCCATGGTCGGGAGG ACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCGGGGGGACCTGCTCGCCG GCGTGAGATGCTCCATGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCT CCATGGTCGGGAGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGG TGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCCG TGGGTGTGAGATGCTCCGTGGTC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(842): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGG GGGAGAGAAGGGGAGGGGGAGACAAGGGGGAGAGAAGGGGAGGGGGAGAG GGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGG GGAGAGAGGGGGAGGGGGAGAGAGGGGGAGAGAAAGGGAGAGGGGGAGAG GGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAA GGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGGTGGAGGAGGGGGAGAGG GGGAGAGGTGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGAGGA GGGGGAGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGGGAGGGGGAG AGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAG GAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAAGTGGGAAGGGGCAAGA GAGAGGGCGAGAGAGAGGGCGGGTGAGAGAGGGCGAGTGAGAGAGAGAGG GCGAGTGAGAGAGAGAGGGCAGGTGAGAGAGAGGGCGAGAGAAAGAGAGG GTGGGCAAGAGAGAGAGGGCGAGGGCGAGAGAGAGAGAGGGCGAGAGAGA GAGGGCGGGCGAGAGAGAGGGCAGGCGAGAGAGAGGGCGGGTGAGAGAGA GAGAGGGTGGGCAAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGA GGGCGGGCAAGAGAGAGAGAGAGAGGGCGAGAGGGAGAGAGAGGGAGAGG GCGAGAGGGAGAGAGAGGGAGAGAAAGAGGGAGAGAAAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02818.hp2 HG03942.hp1 others(2): Show HG02559.hp1 HG02818.hp2 HG03942.hp1 NA18968.hp1 NA18973.hp2	a0009 a0019 a0053 a0009 a0019 a0053	a0009c0025 a0019c0027 a0053c0035 a0009c0025 a0019c0027 a0053c0035	a0009c0025t0001 a0019c0027t0001 a0053c0035t0001 a0009c0025t0001 a0019c0027t0001 a0053c0035t0001	a0009c0025t0001g0133 a0009c0025t0001g0134 a0019c0027t0001g0198 others(2): Show a0009c0025t0001g0133 a0009c0025t0001g0134 a0019c0027t0001g0198 a0019c0027t0001g0246 a0053c0035t0001g0014	5	308	0.0162	849	c.371 others(866): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCCTC TCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTC TCTCTCTCTTGCCCACCCTCTCTCTCTCTCACCCGCCCTCTCTCTCGCCT GCCCTCTCTCTCGCCCGCCCTCTCTCTCTCGCCCTCTCTCTCTCTCGCCC TCGCCCTCTCTCTCTTGCCCACCCTCTCTTTCTCTCGCCCTCTCTCTCAC CTGCCCTCTCTCTCTCACTCGCCCTCTCTCTCTCACTCGCCCTCTCTCAC CCGCCCTCTCTCTCGCCCTCTCTCTTGCCCCTTCCCACTTCCCCCTCTCC CCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTC CCCCTCCTCCCCCTCTCCCCCTCTCCCCCTCCCCCCCTCCTCCCCCTCTC CCCCTCCTCCCCCTCCTCCCCCTCCTCCCCTCCTCCCCCTCCTCCCCCTC CTCCCCCTCCTCCACCTCTCCCCCTCTCCCCCTCCTCCACCTCTCCCCCT CTCCCCCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCC CCTTCTCTCCCCTTCTCTCCCCCTCTCCCCCTCTCCCTTTCTCTCCCCCT CTCTCCCCCTCCCCCTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCT CTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTTG TCTCCCCCTCCCCTTCTCTCCCCCTCTCCCACTCTCTCCCTCCCCTTCTC TCCCCATCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PNPLA7_chr9_137454952_137555402	137502730	G G	GGGGGGAC others(842): Show GGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGCGGGGGGGACGGGG GGGACGGGGGGGGCGGGGGGGGCGGGGGGGGGCGGGGGGGACGGGGGGGG CGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGCGGGGGGGACGGGG GGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGGGACGGGGGGGA CGGGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGGGGGGGGACGGG GGGGACGGGGGGGGGGACGGGGGGGGACGCGGGGGGGACGCGGGGGGGAC GCGGGGGGGACGGGGGGGGACGCGGGGGGGACGGGGGGGGACGGGGGGGA CGGGGGGGGGACGGGGGGGACGGGGGGGGGACGGGGGGGACGCGGGGGGG ACGGGGGGGACGCGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGGG GGGGACGCGGGGGACGGGGGGGACGGGGGGGACGCGGGGGGGACGGGGGG GACGCGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGAC GCGGGGGGGACGGGGGGGACGGGGGGGGGCGGGGGGGGCGGGGGGGGGCG GGGGGGACGGGGGGGGACGGGGGGGGCGGGGGGGGGCGGGGGGGACGCGG GGGACGGGGGGGACGCGGGGGACGGGGGGACGGGGGGGGACGCGGGGGAC GGGGGGGACGCGGGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGCG GGGGACGGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGG ACGCGGGGGGACGGGGGGGACGCGGGGGACGCAGGGGACGGGGGGGACGC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0004 a0004	a0004c0054 a0004c0054	a0004c0054t0002 a0004c0054t0002	a0004c0054t0002g0132 a0004c0054t0002g0132	1	188	0.0053	849	c.147 others(868): Show c.1474-1004_1474-1003insGCGTCCCCCCCGTCCCCTGCGTCCCC CGCGTCCCCCCCGTCCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCG TCCCCCCCGTCCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCC CCCCGTCCCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCCGTCCCCC CGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGCCCCCCCCCGCC CCCCCCGTCCCCCCCCGTCCCCCCCGCCCCCCCCCGCCCCCCCCGCCCCC CCCCGTCCCCCCCGTCCCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCC CGTCCCCCCCGTCCCCCCCGCGTCCCCCCCGTCCCCCCCGCGTCCCCCCC GTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCC CCGCGTCCCCCGCGTCCCCCCCGTCCCCCCCGCGTCCCCCCCGTCCCCCC CCCGTCCCCCCCGTCCCCCCCCCGTCCCCCCCGTCCCCCCCCGTCCCCCC CGCGTCCCCCCCCGTCCCCCCCGCGTCCCCCCCGCGTCCCCCCCGCGTCC CCCCCCGTCCCCCCCCCCGTCCCCCCCGTCCCCCCCCGTCCCCCCCGTCC CCCCCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCGCGTCCCCC CCGTCCCCCCCGTCCCCCCCGTCCCCCCGTCCCCCCCGCGTCCCCCCCGT CCCCCCCGTCCCCCGCGTCCCCCGCCCCCCCCGTCCCCCCCGCCCCCCCC CGCCCCCCCCGCCCCCCCCGTCCCCCCCGTCCCCCCCGCGTCCCCCCCGT CCCCCCCGTCCCCCGCGTCCCCC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGTGTGAC others(842): Show AGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCA TCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGC CTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGAC TTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAG TTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCA CCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCT GAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTT GTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGG GGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTG TGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTC TGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGT CCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGG GATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTT TCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCA GCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGG CGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0291 a0001c0008t0004g0291	1	340	0.0029	849	c.227 others(866): Show c.227+3604_227+3605insTGTGACTTGGGATGGGGGCGGGGGGGCC TGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACT TGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGC TTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCA CCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTG AGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTG TCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGG GGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCT GAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTC CTCACCAGCCTTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGG ATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTT CTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAG CCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGC GGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGG AGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCA TCTCTGAGTTTTTCTCTGAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRDM15_chr21_41793225_41884344	41814641	T T	TCGTGTTA others(842): Show TCGTGTTAGTGATTGCGCAGGGTGCTCTAGTGTTTTATGAGAATGCCTTG TGTTAGTGATTGCGCAGGGTGCTCTAGTGTTTTATGAGAATGCCTTGTGT TAGTGATTGCGCAGGGTGCTCTAGTGTGTTATGAGAACGACTCGTGTTAG TGATTGCGCAGGGTGCTCTAGTGTTTTATGAGAATGCCTCGTGTTACTGA TTGCGCAGGGTGCTCTAGTGTTTTATGAGAATGCCTCGTGTTAGTGATTG CGCAGGGTGCTCTAGTGTGTTATGAGAATGCCTCGTGTTAGTGATTGCGC AGGGTGCTCTAGTGTTTTATGAGAATGCCTCGTGTTAGTGATTGCGCAGG GTGCTCTAGTGTTTTATGAGAATGCCTCGTGTTAGTGATTGCGCAGGGTG CTCTAGTGTTTTATGAGAATGCCTCGTGTTAGTGATTGCGCAGGGTGCTC TAGTGTTTTATGAGAATGCCTCGTGTTAGTGATTGCACAGGGTGCTCTAG TGTTTTATGAGAATGCCTCGTGTTAGTGATTGCGCAGGGTGCTCTAGTGT TTTATGAGAATGCCTTGTGTTAGTGATTGCGCAGGGTGCTCTAGTGTTTT ATGAGAACGACTTGTGTTAGTGATTGCGCAGGGTGCTCTAGTGTTTTATG AGAATGCCTCATGTTAGTGATTGCGCAGCGTGCTCTAGTGTTTTATGAGA ATGGCTGTGTGTTAGTGATTGCGCAGGGTGCTCTAGTGTTTTATGAGAAT GCCTTGTGTTAGTGATTGCGCCGGGTGCTCTAGTGTTTTATGAGAATGGC TGTGTGTTAGTGATTGCGCAGGGTGCTCTAGTGTTTTATGAGAATGGCTG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0145 a0001c0001t0016g0145	1	406	0.0025	849	c.239 others(868): Show c.2392+1063_2392+1064insCAGCCATTCTCATAAAACACTAGAGC ACCCTGCGCAATCACTAACACACAGCCATTCTCATAAAACACTAGAGCAC CCGGCGCAATCACTAACACAAGGCATTCTCATAAAACACTAGAGCACCCT GCGCAATCACTAACACACAGCCATTCTCATAAAACACTAGAGCACGCTGC GCAATCACTAACATGAGGCATTCTCATAAAACACTAGAGCACCCTGCGCA ATCACTAACACAAGTCGTTCTCATAAAACACTAGAGCACCCTGCGCAATC ACTAACACAAGGCATTCTCATAAAACACTAGAGCACCCTGCGCAATCACT AACACGAGGCATTCTCATAAAACACTAGAGCACCCTGTGCAATCACTAAC ACGAGGCATTCTCATAAAACACTAGAGCACCCTGCGCAATCACTAACACG AGGCATTCTCATAAAACACTAGAGCACCCTGCGCAATCACTAACACGAGG CATTCTCATAAAACACTAGAGCACCCTGCGCAATCACTAACACGAGGCAT TCTCATAAAACACTAGAGCACCCTGCGCAATCACTAACACGAGGCATTCT CATAACACACTAGAGCACCCTGCGCAATCACTAACACGAGGCATTCTCAT AAAACACTAGAGCACCCTGCGCAATCAGTAACACGAGGCATTCTCATAAA ACACTAGAGCACCCTGCGCAATCACTAACACGAGTCGTTCTCATAACACA CTAGAGCACCCTGCGCAATCACTAACACAAGGCATTCTCATAAAACACTA GAGCACCCTGCGCAATCACTAACACAAGGCATTCTCATAAAACACTAGAG CACCCTGCGCAATCACTAACACG	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	19/23			chr21	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(842): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAACATATATTATATAATATGTAATACACAACATATATTATATAATATG TAATACACAACATATATTATATAATATGTAATACACAACATATATTATAT AATATGTAATACACAACATATATTATATAATATGTAATACACAACATATA TTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATAC ACAATATATTATATAATAATATGTAATACACAATATATTATATAATAATA TGTAATACACAATATATTATATAATAATATGTAATACACAATATATTATA TAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAAT ATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAA TACACAATATATTATATAATAATATGTAATACACAATATATTATATAATA ATATGTAATACATTATACATTATTATATAAGTATATGTAATACATTATAC ATTATTATATAAGTATATGTAATACATTATACATTATTATATAAGTATAT GTAATATATATTATACATTATTATATAAGTATATGTAATATATAGTATAC ATTATTATATAAGCATATAATATATAATACATAATACATTATATATAAGC ATATAACAATACATAATACATTATATATAAGCATATAACAATACATAGTA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0121 a0001c0001t0003g0121	1	220	0.0046	849	c.24+ others(866): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAACATATATTATATAATATGTAATACA CAACATATATTATATAATATGTAATACACAACATATATTATATAATATGT AATACACAACATATATTATATAATATGTAATACACAACATATATTATATA ATATGTAATACACAACATATATTATATAATAATATGTAATACACAATATA TTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATAC ACAATATATTATATAATAATATGTAATACACAATATATTATATAATAATA TGTAATACACAATATATTATATAATAATATGTAATACACAATATATTATA TAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAAT ATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAA TACACAATATATTATATAATAATATGTAATACATTATACATTATTATATA AGTATATGTAATACATTATACATTATTATATAAGTATATGTAATACATTA TACATTATTATATAAGTATATGTAATATATATTATACATTATTATATAAG TATATGTAATATATAGTATACATTATTATATAAGCATATAATATATAATA CATAATACATTATATATAAGCATATAACAATACATAATACATTATATATA AGCATATAACAATACATAGTA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar

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Search Results (Total: 7053 hits)