Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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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
DYSF_chr2_71461699_71691763	71618390	T T	TGTGTGTG others(697): Show TGTGTGTGTGTGTGTGTGGTAGAGGTGGCATGTGTGGTAGAGGTGGGGTG TGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTG GTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGTGTGTG TGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGT GGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGT GTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGAGGT GGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGAGTGTGTTT GTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTGTGTGGTAGAG GTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGT GGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGG TGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGTACAGTTGTGT GTGTGTGGTAGAGGTGTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTG TGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGA GTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAG AGGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02165.hp1 HG00140.hp2 HG02165.hp1	a0001 a0026 a0001 a0026	a0001c0019 a0026c0030 a0001c0019 a0026c0030	a0001c0019t0002 a0026c0030t0001 a0001c0019t0002 a0026c0030t0001	a0001c0019t0002g0171 a0026c0030t0001g0016 a0001c0019t0002g0171 a0026c0030t0001g0016	2	208	0.0096	704	c.446 others(723): Show c.4465-2144_4465-2143insTGTGGTAGAGGTGGCATGTGTGGTAG AGGTGGGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGTG TGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGA GGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGGTATATGTGTGTG TGGTAGAGGTGGCGTATATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTG GTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTG TGGTAGAGGTGGTGTGTGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTG GAGTGTGTTTGTGTGGGGTAGAGTTGTGTGTGGTAAAGGTGGTGTGTGTG TGTGGTAGAGGTGGGGTGTGTGTGGTAGAGGGTGTGTGTGTGTGGTAGAG GTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGGT AGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGT ACAGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGTGGTAGAGGT GGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTG TGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTG TGTGTGGTAGAGGTGGTGTGTGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	40/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
EIF3B_chr7_2349827_2385745	2377659	A A	AGGAGGAA others(697): Show AGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CGCTCCTGGGAAGCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGTGAGCTCTTCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATG GAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGA CCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCG TGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCT CTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGG AGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGT GTCAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0324 a0001c0003t0001g0324	1	384	0.0026	704	c.215 others(721): Show c.2154+606_2154+607insTCTCCTGGGAATCCGTGTTCTGTGAATG ACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCC GTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGC GCTCCTGGGAAGCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAG GAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGG TGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTG TGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGTGAGCTCTTCTGG GAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGC GCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGG AGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGAC CCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGT GTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTC TCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGA GCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTG TCATGGAGGAAGGAGCAGGCGCGAGC	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377693	G G	GCCGTGTT others(697): Show GCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGTG AGCTCTTCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCT GGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTT CTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCC TGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCA GGCGCGAGCGCTCCTGGGAAGCCGTGTTCTGTGAATGACCCTGGGTGTCA AGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGATGCTGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTG GGAAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	384	0.0026	704	c.215 others(721): Show c.2154+619_2154+620insCGTGTTCTGTGAATGACCCTGGGTGTCA AGGAGGAAGGAGCAGGCGTGAGCTCTTCTGGGATGCTGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTCT GTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGTGAGCTCTTCTG GGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATG GAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGA CCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCG TGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCG CTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGG AGCAGGCGCGAGCGCTCCTGGGAATC	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2378012	T T	TGTGTTCT others(697): Show TGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAG CTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAA GGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGG GTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCT GTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTG GGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGG CGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATG GAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGA CCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTTCTGGGAATCCG TGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCT CTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGG AGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGT GTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTGTGT GAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGG AATCC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	384	0.0026	704	c.215 others(721): Show c.2155-633_2155-632insGCGAGCTCTCCTGGGAATCCGTGTTCTG TGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGG GAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGC GCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGG AGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGAC CCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGT GTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGC TCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGA GCAGGCGCGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTG TCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTG AATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGA ATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGC GAGCGCTCCTGGGATGCTGTGTTGTGTGAATGACCCTGGGTGTCATGGAG GAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCC TGGGTGTCATGGAGGAAGGAGCAGGC	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
FLT4_chr5_180596506_180654600	180635661	A A	AAGTATGG others(697): Show AAGTATGGGTGGATGGGTGGGTGGACGGATGGATGGATGGAAGTATGGGT GGATGGGTGGGTGGGTGGATGCATGGATGGATGGAAGTATGGGTGGATGG GTGGGTGGGTGGGTGGATGGATGCATGGATGGATGGAAGTATGGGTGGAT GGGTGGGTGGACGGATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGG GTGGATGCATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGGT GGATGGATGCATGGATGCATGGAAGTATGGGTGGATGGGTGGGTGAGTGG GTGGATGGAAGTATGGGTGGATGGGTGGGTGGATGGGTGGATGGATGCAT GTATGGAAGTATGGATGGATGAGTGGATGGGTGGGTGGGTGGATGCATAG ATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGGTGGATGGATGCAT GGATGGAAGTAAGGGTGGATGGGTGGATGGGTGGGTGAGTGGGTGGATGC ATGGATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGGTGGATGGAT GCATGGATGGAAGTAAGGGTGGATGGGTGGATGGGTGGGTGAGTGGGTGG ATGCATGGATGGATGGAAGTATGGGTGGATGGGTGGATGGGTGGGTGGGT AGGTGGATGGATGCATGGATTGAAGTATGGGTGGATGGGTGGGTGGGTGG GTGGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01123.hp1 HG01433.hp1 others(15): Show HG00280.hp1 HG01123.hp1 HG01433.hp1 HG03704.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp2 NA18939.hp2 NA18941.hp2 NA18994.hp1 NA18994.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19068.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp1	a0001 a0002 a0010 others(1): Show a0001 a0002 a0010 a0026	a0001c0001 a0001c0009 a0002c0002 others(5): Show a0001c0001 a0001c0009 a0002c0002 a0002c0003 a0002c0008 a0002c0038 a0010c0021 a0026c0030	a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 a0001c0009t0004 a0002c0002t0001 a0002c0002t0004 a0002c0002t0022 a0002c0003t0003 a0002c0008t0004 a0002c0008t0032 a0002c0038t0004 a0010c0021t0001 a0026c0030t0030	a0001c0001t0001g0012 a0001c0001t0001g0057 a0001c0001t0002g0216 others(15): Show a0001c0001t0001g0012 a0001c0001t0001g0057 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0009t0001g0063 a0001c0009t0004g0013 a0002c0002t0001g0030 a0002c0002t0004g0064 a0002c0002t0022g0313 a0002c0003t0003g0028 a0002c0008t0004g0296 a0002c0008t0004g0304 a0002c0008t0004g0324 a0002c0008t0032g0305 a0002c0038t0004g0068 a0010c0021t0001g0029 a0026c0030t0030g0303	18	388	0.0464	704	c.59- others(719): Show c.59-3884_59-3883insCCCACCCACCCACCCACCCATCCACCCATA CTTCAATCCATGCATCCATCCACCTACCCACCCACCCATCCACCCATCCA CCCATACTTCCATCCATCCATGCATCCACCCACTCACCCACCCATCCACC CATCCACCCTTACTTCCATCCATGCATCCATCCACCCACCCACCCACCCA TCCACCCATACTTCCATCCATCCATGCATCCACCCACTCACCCACCCATC CACCCATCCACCCTTACTTCCATCCATGCATCCATCCACCCACCCACCCA CCCATCCACCCATACTTCCATCCATCTATGCATCCACCCACCCACCCATC CACTCATCCATCCATACTTCCATACATGCATCCATCCACCCATCCACCCA CCCATCCACCCATACTTCCATCCACCCACTCACCCACCCATCCACCCATA CTTCCATGCATCCATGCATCCATCCACCCACCCACCCACCCATCCACCCA TACTTCCATCCATCCATGCATCCACCCACCCACCCATCCACCCATACTTC CATCCATCCATCCGTCCACCCACCCATCCACCCATACTTCCATCCATCCA TGCATCCATCCACCCACCCACCCACCCATCCACCCATACTTCCATCCATC CATGCATCCACCCACCCACCCATCCACCCATACTTCCATCCATCCATCCG TCCACCCACCCATCCACCCATACT	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(697): Show TCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCC CTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCC CTTCCCCCCTCTCCCTCCCTCCCCTTCCCCCCCTCTCCCTCCCTACCCTC TCTCCCCCCTCTCCCTCCCTCCCCTCTCACCCCCCTCCCTCCCCTCTCTT CCCTCTCCCCCTCTCTCTCCCTCCCTCTCCCTCCCCCTCCCTCCCTCTCC CTCTCTCCCCCTCTCCCCCTCTCCCTCTTTCTCCTTCCCGCTCCCTCTCT CCCCTTTCTCCCTCTCTCTCCCTCCCCCTCTTTCTCCTTCCCGCTCCCTC TCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCCCTCTCTCCCCTCTCTC CATCCTCCCCTCTCTTCCTCCCTGTCTCCCCCTCTCCCCCCCTCTCCTTC TCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCCCTGCCCTCTCTCC CCCCCTCCCTCTCTCCCCCCTCCCCCTCTTCCCCTCCCTCTCTCCCCCTC CTTCTCCCTCTCTCCCCACCTCCTTCTCCCTCTCTCCCCCGCCCTTTCCC TCCCTCTCCCTCTCCCCCCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTTT CCCCCCTTTCCTTCCTCCCCTCTCTCCCACCCTCTGTCCCCCTCTCCCTG TCTCC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0003 a0001c0022t0003	a0001c0022t0003g0193 a0001c0022t0003g0193	1	230	0.0044	704	c.126 others(721): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGGGTG GGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGGAGAGGGAG AGGGGGGAGGGGGGAGAGGGAGAGGGAGGGAAAGGGCGGGGGAGAGAGGG AGAAGGAGGTGGGGAGAGAGGGAGAAGGAGGGGGAGAGAGGGAGGGGAAG AGGGGGAGGGGGGAGAGAGGGAGGGGGGGAGAGAGGGCAGGGGGAGAGAG GGAGGGGGGAGAGGGAGAGGGGGGAGAGAAGGAGAGGGGGGGAGAGGGGG AGACAGGGAGGAAGAGAGGGGAGGATGGAGAGAGGGGAGAGAGGGAGGGG GAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGGAAGGAGAAAGAG GGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGGAAGGAGAAA GAGGGAGAGGGGGAGAGGGGGAGAGAGGGAGAGGGAGGGAGGGGGAGGGA GAGGGAGGGAGAGAGAGGGGGAGAGGGAAGAGAGGGGAGGGAGGGGGGTG AGAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGTAGGGAGGGAGAGGGGGG GAAGGGGAGGGAGGGAGAGGGGGGAAGGGGAGGGAGGGAGAGGGGGGAGA GAGGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGGAGAGGGGGGAGAGAGG GGAGGGAGGGAGAGGGGGGAAAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
GPIHBP1_chr8_143208218_143222170	143218345	C C	CCCAACAC others(697): Show CCCAACACCACCCCAACACCACCCCCACACCACCCCCAATACCACCCCCA CCACCCCCAACACCACCCCCACACCACCCCCAACACCATCCCCAACACCA CCCCCACACCACCCCAACACCACCCCCAACACCACCCCCAACACCATCCC AACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAAC ACCACCCCCAACACCACCCCCACACCACCCCCACACCACCCCAACACCAC CCCAACACCATCCCCCACACCACCCCCAACACCACCCCCAACACCATCCC CAACACCCCCACACCGCCCCAACACCACCCCCAACACCACCCCCACCACC CCCACACCACCCCCAACACCATCCCCCCCACCACCCCCAACACCACCCCC AACACCATCCCCAACACCCCCACACCGCCCCAACACCACCCCCAACACCA CCCCCACCACCCCCACACCACCCCCAACACCATCCCCCACACCACCCCCA ACACCATCCCCCCCACCACCCCCACACCACCCCCACACCACCCCCAACAC CATCCCCCACACCACCCCCAACACCACCCCCACACTGCCCCCACACCACC CCCAACACCAGCCCCAACACCACCCCAATACCTCCCCAACACCACCCCCA ACACCACCCAACACCATGCCCCACACCACCCCCAACACCACCCCCAACAC CACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	106	0.0094	704	c.28 others(715): Show c.2827_*2828insCCAACACCACCCCAACACCACCCCCACACCACCC CCAATACCACCCCCACCACCCCCAACACCACCCCCACACCACCCCCAACA CCATCCCCAACACCACCCCCACACCACCCCAACACCACCCCCAACACCAC CCCCAACACCATCCCAACACCACCCCCAACACCACCCCCAACACCACCCC CAACACCACCCCAACACCACCCCCAACACCACCCCCACACCACCCCCACA CCACCCCAACACCACCCCAACACCATCCCCCACACCACCCCCAACACCAC CCCCAACACCATCCCCAACACCCCCACACCGCCCCAACACCACCCCCAAC ACCACCCCCACCACCCCCACACCACCCCCAACACCATCCCCCCCACCACC CCCAACACCACCCCCAACACCATCCCCAACACCCCCACACCGCCCCAACA CCACCCCCAACACCACCCCCACCACCCCCACACCACCCCCAACACCATCC CCCACACCACCCCCAACACCATCCCCCCCACCACCCCCACACCACCCCCA CACCACCCCCAACACCATCCCCCACACCACCCCCAACACCACCCCCACAC TGCCCCCACACCACCCCCAACACCAGCCCCAACACCACCCCAATACCTCC CCAACACCACCCCCAACACCACCCAACACCATGCCCCACACCACCCCCAA CACCACCCCCAACACCACCT	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1176		chr8	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(697): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATATAAATATATATATTTATATATAAATA TATATATTTATATATAAATATATATATAAATATATATATTTATATATAAA TATATATATTTATATATATATTTATATATAAATATATATATTTATATATA AATATATATATTTATATATATAAATATATATATTTATATATATAAATATA TATATTTATATATATAAATATATATATATTTATATTTACAAATATATATA TTTATATATATATTTATATTTATATATATTTATATTTATATATATATATA TAAATATATATTTATGTATATTTATATATAAATATAAATATATATTTATA TATAA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	208	0.0048	704	c.-97 others(721): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATAAATATATATATAAATATATATATTTAT ATATAAATATATATATTTATATATATATTTATATATAAATATATATATTT ATATATAAATATATATATTTATATATATAAATATATATATTTATATATAT AAATATATATATTTATATATATAAATATATATATATTTATATTTACAAAT ATATATATTTATATATATATTTATATTTATATATATTTATATTTATATAT ATATATATAAATATATATTTATGTATATTTATATATAAATATAAATATAT ATTTATATATAAATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(697): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATATAAATATATATATTTATATATAAATA TATATATTTATATATAAATATATATATATATATATATTTATATATAAATA TATATATTTATATATATATTTATATATAAATATATATATTTATATATAAA TATATATATTTATATATATAAATATATATATTTATATATATAAATATATA TATATTTATATTTACAAATATATATATTTATATATATATTTATATTTATA TATATTTATATTTATATATATATATATAAATATATATTTATGTATATTTA TATATAAATATAAATATATATTTATATATAAATATAAATATATATTTATA TATAA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	208	0.0048	704	c.-97 others(721): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATAAATATATATATATATATATATTTATAT ATAAATATATATATTTATATATATATTTATATATAAATATATATATTTAT ATATAAATATATATATTTATATATATAAATATATATATTTATATATATAA ATATATATATATTTATATTTACAAATATATATATTTATATATATATTTAT ATTTATATATATTTATATTTATATATATATATATAAATATATATTTATGT ATATTTATATATAAATATAAATATATATTTATATATAAATATAAATATAT ATTTATATATAAATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(697): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TATAAATATATATATTTATATATATATATAAATATATATATTTATATTTA TTTATATATATAAATATATATATTTATATTTATTTATATATATATAAATA TATATATTTATATTTATATTTATATATTTATATTTATATATATAAATATA TATATTTATATTTATTTATATATATAAATATATATATTAATATATATTTA TATATATAAATATATATATTTATATATAAATATATATTTATGTATATTTA TATATATAAATATATATATTTATATATAAATATATATATTTATATATAAA TATATATATTTATATATAAATATATATATTTATATATAAATATATATATA AATATATATATTTATATATAAATATATATATTTATATATATATTTATATA TAAATATATATATTTATATATAAATATATATATTTATATATATAAATATA TATATTTATATATATAAATATATATATATTTATATTTACAAATATATATA TTTATATATATATTTATATTTATATATATTTATATTTATATATATATATA TAAATATATATTTATGTATATTTATATATAAATATAAATATATATTTATA TATAA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	208	0.0048	704	c.-97 others(721): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATATAAATATATATATTTATATATATATATAAATATATATATTT ATATTTATTTATATATATAAATATATATATTTATATTTATTTATATATAT ATAAATATATATATTTATATTTATATTTATATATTTATATTTATATATAT AAATATATATATTTATATTTATTTATATATATAAATATATATATTAATAT ATATTTATATATATAAATATATATATTTATATATAAATATATATTTATGT ATATTTATATATATAAATATATATATTTATATATAAATATATATATTTAT ATATAAATATATATATTTATATATAAATATATATATTTATATATAAATAT ATATATAAATATATATATTTATATATAAATATATATATTTATATATATAT TTATATATAAATATATATATTTATATATAAATATATATATTTATATATAT AAATATATATATTTATATATATAAATATATATATATTTATATTTACAAAT ATATATATTTATATATATATTTATATTTATATATATTTATATTTATATAT ATATATATAAATATATATTTATGTATATTTATATATAAATATAAATATAT ATTTATATATAAATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
KIF3B_chr20_32272651_32340011	32322672	T T	TTATATAT others(697): Show TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATATATATATTTATATATATTT ATATATATATTTATATATATATATATATTTATATATATTTATATATATAT TTATATATATATATATATTTATATATATTTATATATATATTTATATATAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATTTATATATATATTTATATATAT TTATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0074 a0001c0002t0004g0074	1	242	0.0041	704	c.174 others(723): Show c.1749-4092_1749-4091insATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATATAT ATATTTATATATATTTATATATATATTTATATATATATATATATTTATAT ATATTTATATATATATTTATATATATATATATATTTATATATATTTATAT ATATATTTATATATATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATTTATATATATTTATATATATATTTATATATATTTATAT ATATATTTATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATTTATAT ATATATTTATATATATTTATATATATAT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
LHPP_chr10_124456823_124619141	124471488	A A	ATATATAA others(697): Show ATATATAAATTTTTTTATATTTATATATTTTTTATATATTTATATATATT ACATATATTTTTATATTTTATATATATTTATATATTTTATATATTTATAT ATTTTTTATATATTTATATATTTATATATATATTTATATATATTTATGTA TATTTATATATATATTTATATATATTTATGTATATTTATATATATATTTA TATATATTTATGTATATTTATATATATTTATATATTTATGTATATATTTA TATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATTTA TATATATATTTATATGTATTTTTATATATTTATATATTTATATGTATTTA TACATATATATTTATATGTATTTATACATATATATTTATATGTATTTATA TATATTTATATATATTTTTTATGTATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATATTTATATATATATTTATATATATATTTATATATATAAATATATATAT ATTATTTATATATATATTTATATATATTTATATATATTTATATATTTATA TATATATATTTATATATATTTATATATATTTATATATATTTATATATATT ATATATATTTATATATATTTATATATATATTTATATATGTATTTATATAT ATATT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	260	0.0039	704	c.125 others(721): Show c.125+9502_125+9503insATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATATATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATTTA TATATTTATGTATATATTTATATATATTTATATATTTATGTATAAATTTA TATATATTTATATGTATTTATATATATATTTATATGTATTTTTATATATT TATATATTTATATGTATTTATACATATATATTTATATGTATTTATACATA TATATTTATATGTATTTATATATATTTATATATATTTTTTATGTATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATATTTATATATATATTTATATATATATTT ATATATATAAATATATATATATTATTTATATATATATTTATATATATTTA TATATATTTATATATTTATATATATATATTTATATATATTTATATATATT TATATATATTTATATATATTATATATATTTATATATATTTATATATATAT TTATATATGTATTTATATATATATTT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507402	G G	GGGCGGGT others(697): Show GGGCGGGTAGACAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGG GGGGATAGGGAGTATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGG GGGGTAGGGAGGATTTCAGGTGGGCGGGTAGACAGGATTTCAGGTGGGGG GGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGTGGAGG GTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGG TAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGT AGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTA GACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGCGGGTAGA CAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGATAGGGA GTATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAG GATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGG ATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGA TTTCAGGTGGGCGGGTAGACAGGATTTCAGGTGGGGGGGTAGACAGGATT TCAGGTGGGGGGATAGGGAGTATTTCAGGTGTGGAGGGTAGACAGGATTT CAGGT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	260	0.0039	704	c.624 others(721): Show c.624+9276_624+9277insCGGGTAGACAGGATTTCAGGTGGGGGGG TAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGTGGAGGGT AGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGCGGGTAG ACAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGATAGGG AGTATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGA GGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAG GATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGG ATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGA TTTCAGGTGGGCGGGTAGACAGGATTTCAGGTGGGGGGGTAGACAGGATT TCAGGTGGGGGGATAGGGAGTATTTCAGGTGTGGAGGGTAGACAGGATTT CAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTC AGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCA GGTGGGGGGGTAGGGAGGATTTCAGGTGGGCGGGTAGACAGGATTTCAGG TGGGGGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTG TGGAGGGTAGACAGGATTTCAGGTGG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMCD1_chr3_8496823_8579668	8559422	C C	CCACAATC others(697): Show CCACAATCCTATGAGGTTGCTATCATTACTATCGCCATTCAACAGGTGAA AAAACAGAGGCACAGGTAAGTTAGTTCATTTGCCCAAGGTCACACAGCTA TGAACCCAGGCAGTCTGACTTGGTATCTCCCCTCTCAGCCACCTGTTGCA ATTTAGAAATTGCAAACCTCGCTACAAAGAATTGTGGGAGAGACTAAGTT TGTGCTGAGAAAGGGCCAGGATGATGGGACCCAAGTAGGCTGGCATTCTG ACTCTCGGCTGCTAGCTTGTCTCTCGTGGCTGAGGGACCACCAGACGATA GATCCAGGACAACCTCAGGTCTCTCATCCTTTGAGATGACTGAGTTAAGG ATACAGAAAATGGCTTAGAGGCAAGAAGAGCACATTTCATCCTGACACAT GTTGAGAGGGCTCCTTACCTGGACATCTTGTTTTCATGGAGTGATAATGA TACTGTTTGCTTAAAGGGGCTGGCTACTGGTAGAAACCAGTCCAAGAGCC AGGGACGCTAGGGAGAACAGTGAGGGAAGAAATGCTCCTCCAAGAGGGGC TTCACAAAGTGCTTTCCAACGGATGAGAAGGTTGCAAACAAGCTCTGTGA ACAAGAATTTTCCTTCCTTCCTTCATACTGCTGCGAGAATATCTCCCTAC AGTGCAAATTAGAACCTTGAACTCCTCATCTCAAGAACCAGTAACGGGTT AGGTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02523.hp1 HG02647.hp1 others(4): Show HG02486.hp1 HG02523.hp1 HG02647.hp1 HG03453.hp1 HG03453.hp2 NA18956.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0021 a0001c0001t0001 a0001c0001t0017 a0001c0001t0021	a0001c0001t0001g0170 a0001c0001t0001g0182 a0001c0001t0001g0185 others(4): Show a0001c0001t0001g0170 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0228 a0001c0001t0017g0180 a0001c0001t0017g0181 a0001c0001t0021g0067	7	314	0.0223	704	c.724 others(721): Show c.724-5785_724-5784insGGACCCAAGTAGGCTGGCATTCTGACTC TCGGCTGCTAGCTTGTCTCTCGTGGCTGAGGGACCACCAGACGATAGATC CAGGACAACCTCAGGTCTCTCATCCTTTGAGATGACTGAGTTAAGGATAC AGAAAATGGCTTAGAGGCAAGAAGAGCACATTTCATCCTGACACATGTTG AGAGGGCTCCTTACCTGGACATCTTGTTTTCATGGAGTGATAATGATACT GTTTGCTTAAAGGGGCTGGCTACTGGTAGAAACCAGTCCAAGAGCCAGGG ACGCTAGGGAGAACAGTGAGGGAAGAAATGCTCCTCCAAGAGGGGCTTCA CAAAGTGCTTTCCAACGGATGAGAAGGTTGCAAACAAGCTCTGTGAACAA GAATTTTCCTTCCTTCCTTCATACTGCTGCGAGAATATCTCCCTACAGTG CAAATTAGAACCTTGAACTCCTCATCTCAAGAACCAGTAACGGGTTAGGT GCACAATCCTATGAGGTTGCTATCATTACTATCGCCATTCAACAGGTGAA AAAACAGAGGCACAGGTAAGTTAGTTCATTTGCCCAAGGTCACACAGCTA TGAACCCAGGCAGTCTGACTTGGTATCTCCCCTCTCAGCCACCTGTTGCA ATTTAGAAATTGCAAACCTCGCTACAAAGAATTGTGGGAGAGACTAAGTT TGTGCTGAGAAAGGGCCAGGATGATG	LMCD1	ENSG00000071282.12	transcript	ENST00000157600.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
LMCD1_chr3_8496823_8579668	8560078	A A	AATTAGAA others(697): Show AATTAGAACCTTGAACTCCTCATCTCAAGAACCAGTAACGGGTTAGGTGC ACAATCCTATGAGGTTGCTATCATTACTATCGCCATTCAACAGGTGAAAA AACAGAGGCACAGGTAAGTTAGTTCATTTGCCCAAGGTCACACAGCTATG AACCCAGGCAGTCTGACTTGGTATCTCCCCTCTCAGCCACCTGTTGCAAT TTAGAAATTGCAAACCTCGCTACAAAGAATTGTGGGAGAGACTAAGTTTG TGCTGAGAAAGGGCCAGGATGATGGGACCCAAGTAGGCTGGCATTCTGAC TCTCGGCTGCTAGCTTGTCTCTCGTGGCTGAGGGAACACCAGACGATAGA TCCAGGACAACCTCAGGTCTCTCATCCTTTGAGATGACTGAGTTAAGGAT ACAGAAAATGGCTTAGAGGCAAGAAGAGCACATTTCATCCTGACACATGT TGAGAGGGCTCCTTACCTGGACATCTTGTTTTCATGGAGTGATAATGATA CTGTTTGCTTAAAGGGGCTGGCTACTGGTAGAAACCAGTCCAAGAGCCAG GGACGCTAGGGAGAACAGTGAGGGAAGAAATGCTCCTCCAAGAGGGGCTT CACAAAGTGCTTTCCAACGGATGAGAAGGTTGCAAACAAGCTCTGTGAAC AAGAATTTTCCTTCCTTCCTTCATACTGCTGCGAGAATATCTCCCTACAG TGCAG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0253 a0001c0001t0035g0253	1	314	0.0032	704	c.724 others(721): Show c.724-5304_724-5303insCAATCCTATGAGGTTGCTATCATTACTA TCGCCATTCAACAGGTGAAAAAACAGAGGCACAGGTAAGTTAGTTCATTT GCCCAAGGTCACACAGCTATGAACCCAGGCAGTCTGACTTGGTATCTCCC CTCTCAGCCACCTGTTGCAATTTAGAAATTGCAAACCTCGCTACAAAGAA TTGTGGGAGAGACTAAGTTTGTGCTGAGAAAGGGCCAGGATGATGGGACC CAAGTAGGCTGGCATTCTGACTCTCGGCTGCTAGCTTGTCTCTCGTGGCT GAGGGAACACCAGACGATAGATCCAGGACAACCTCAGGTCTCTCATCCTT TGAGATGACTGAGTTAAGGATACAGAAAATGGCTTAGAGGCAAGAAGAGC ACATTTCATCCTGACACATGTTGAGAGGGCTCCTTACCTGGACATCTTGT TTTCATGGAGTGATAATGATACTGTTTGCTTAAAGGGGCTGGCTACTGGT AGAAACCAGTCCAAGAGCCAGGGACGCTAGGGAGAACAGTGAGGGAAGAA ATGCTCCTCCAAGAGGGGCTTCACAAAGTGCTTTCCAACGGATGAGAAGG TTGCAAACAAGCTCTGTGAACAAGAATTTTCCTTCCTTCCTTCATACTGC TGCGAGAATATCTCCCTACAGTGCAGATTAGAACCTTGAACTCCTCATCT CAAGAACCAGTAACGGGTTAGGTGCA	LMCD1	ENSG00000071282.12	transcript	ENST00000157600.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
LMCD1_chr3_8496823_8579668	8560078	A A	AATTAGAA others(697): Show AATTAGAACCTTGAACTCCTCATCTCAAGAACCAGTAACGGGTTAGGTGC ACAATCCTATGAGGTTGCTATCATTACTATCGCCATTCAACAGGTGAAAA AACAGAGGCACAGGTAAGTTAGTTCATTTGCCCAAGGTCACACAGCTATG AACCCAGGCAGTCTGACTTGGTATCTCCCCTCTCAGCCACCTGTTGCAAT TTAGAAATTGCAAACCTCGCTACAAAGAATTGTGGGAGAGACTAAGTTTG TGCTGAGAAAGGGCCAGGATGATGGGACCCAAGTAGGCTGGCATTCTGAC TCTCGGCTGCTAGCTTGTCTCTCGTGGCTGAGGGACCACCAGACGATAGA TCCAGGACAACCTCAGGTCTCTCATCCTTTGAGATGACTGAGTTAAGGAT ACAGAAAATGGCTTAGAGGCAAGAAGAGCACATTTCATCCTGACACATGT TGAGAGGGCTCCTTACCTGGACATCTTGTTTTCATGGAGTGATAATGATA CTGTTTGCTTAAAGGGGCTGGCTACTGGTAGAAACCAGTCCAAGAGCCAG GGACGCTAGGGAGAACAGTGAGGGAAGAAATGCTCCTCCAAGAGGGGCTT CACAAAGTGCTTTCCAACGGATAAGAAGGTTGCAAACAAGCTCTGTGAAC AAGAATTTTCCTTCCTTCCTTCATACTGCTGCGAGAATATCTCCCTACAG TGCAG	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18969.hp1 NA18997.hp1 NA18965.hp1 NA18969.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0001 a0001c0001t0028	a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0028g0147 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0028g0147	3	314	0.0096	704	c.724 others(721): Show c.724-5304_724-5303insCAATCCTATGAGGTTGCTATCATTACTA TCGCCATTCAACAGGTGAAAAAACAGAGGCACAGGTAAGTTAGTTCATTT GCCCAAGGTCACACAGCTATGAACCCAGGCAGTCTGACTTGGTATCTCCC CTCTCAGCCACCTGTTGCAATTTAGAAATTGCAAACCTCGCTACAAAGAA TTGTGGGAGAGACTAAGTTTGTGCTGAGAAAGGGCCAGGATGATGGGACC CAAGTAGGCTGGCATTCTGACTCTCGGCTGCTAGCTTGTCTCTCGTGGCT GAGGGACCACCAGACGATAGATCCAGGACAACCTCAGGTCTCTCATCCTT TGAGATGACTGAGTTAAGGATACAGAAAATGGCTTAGAGGCAAGAAGAGC ACATTTCATCCTGACACATGTTGAGAGGGCTCCTTACCTGGACATCTTGT TTTCATGGAGTGATAATGATACTGTTTGCTTAAAGGGGCTGGCTACTGGT AGAAACCAGTCCAAGAGCCAGGGACGCTAGGGAGAACAGTGAGGGAAGAA ATGCTCCTCCAAGAGGGGCTTCACAAAGTGCTTTCCAACGGATAAGAAGG TTGCAAACAAGCTCTGTGAACAAGAATTTTCCTTCCTTCCTTCATACTGC TGCGAGAATATCTCCCTACAGTGCAGATTAGAACCTTGAACTCCTCATCT CAAGAACCAGTAACGGGTTAGGTGCA	LMCD1	ENSG00000071282.12	transcript	ENST00000157600.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
LMCD1_chr3_8496823_8579668	8560078	A A	AATTAGAA others(697): Show AATTAGAACCTTGAACTCCTCATCTCAAGAACCAGTAACGGGTTAGGTGC ACAATCCTATGAGGTTGCTATCATTACTATCGCCATTCAACAGGTGAAAA AACAGAGGCACAGGTAAGTTAGTTCATTTGCCCAAGGTCACACAGCTATG AACCCAGGCAGTCTGACTTGGTATCTCCCCTCTCAGCCACCTGTTGCAAT TTAGAAATTGCAAACCTCGCTACAAAGAATTGTGGGAGAGACTAAGTTTG TGCTGAGAAAGGGCCAGGATGATGGGACCCAAGTAGGCTGGCATTCTGAC TCTCGGCTGCTAGCTTGTCTCTCGTGGCTGAGGGACCACCAGACGATAGA TCCAGGACAACCTCAGGTCTCTCATCCTTTGAGATGACTGAGTTAAGGAT ACAGAAAATGGCTTAGAGGCAAGAAGAGCACATTTCATCCTGACACATGT TGAGAGGGCTCCTTACCTGGACATCTTGTTTTCATGGAGTGATAATGATA CTGTTTGCTTAAAGGGGCTGGCTACTGGTAGAAACCAGTCCAAGAGCCAG GGACGCTAGGGAGAACAGTGAGGGAAGAAATGCTCCTCCAAGAGGGGCTT CACAAAGTGCTTTCCAACGGATGAGAAGGTTGCAAACAAGCTCTGTGAAC AAGAATTTTCCTTCCTTCCTTCATACTGCTGCGAGAATATCTCCCTACAG TGCAG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01109.hp2 HG02055.hp2 others(25): Show HG01106.hp1 HG01109.hp2 HG02055.hp2 HG02257.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03834.hp2 HG06807.hp1 HG06807.hp2 NA18972.hp2 NA19030.hp2 NA19043.hp1 NA19240.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0010c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0022 a0001c0001t0053 a0001c0002t0001 a0002c0003t0001 a0010c0011t0001	a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0053 others(25): Show a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0053 a0001c0001t0001g0071 a0001c0001t0001g0209 a0001c0001t0001g0247 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0272 a0001c0001t0001g0306 a0001c0001t0003g0267 a0001c0001t0007g0230 a0001c0001t0007g0301 a0001c0001t0007g0303 a0001c0001t0012g0020 a0001c0001t0012g0246 a0001c0001t0013g0291 a0001c0001t0013g0292 a0001c0001t0015g0222 a0001c0001t0015g0223 a0001c0001t0022g0305 a0001c0001t0053g0268 a0001c0002t0001g0216 a0001c0002t0001g0227 a0002c0003t0001g0038 a0002c0003t0001g0231 a0010c0011t0001g0256	28	314	0.0892	704	c.724 others(721): Show c.724-5304_724-5303insCAATCCTATGAGGTTGCTATCATTACTA TCGCCATTCAACAGGTGAAAAAACAGAGGCACAGGTAAGTTAGTTCATTT GCCCAAGGTCACACAGCTATGAACCCAGGCAGTCTGACTTGGTATCTCCC CTCTCAGCCACCTGTTGCAATTTAGAAATTGCAAACCTCGCTACAAAGAA TTGTGGGAGAGACTAAGTTTGTGCTGAGAAAGGGCCAGGATGATGGGACC CAAGTAGGCTGGCATTCTGACTCTCGGCTGCTAGCTTGTCTCTCGTGGCT GAGGGACCACCAGACGATAGATCCAGGACAACCTCAGGTCTCTCATCCTT TGAGATGACTGAGTTAAGGATACAGAAAATGGCTTAGAGGCAAGAAGAGC ACATTTCATCCTGACACATGTTGAGAGGGCTCCTTACCTGGACATCTTGT TTTCATGGAGTGATAATGATACTGTTTGCTTAAAGGGGCTGGCTACTGGT AGAAACCAGTCCAAGAGCCAGGGACGCTAGGGAGAACAGTGAGGGAAGAA ATGCTCCTCCAAGAGGGGCTTCACAAAGTGCTTTCCAACGGATGAGAAGG TTGCAAACAAGCTCTGTGAACAAGAATTTTCCTTCCTTCCTTCATACTGC TGCGAGAATATCTCCCTACAGTGCAGATTAGAACCTTGAACTCCTCATCT CAAGAACCAGTAACGGGTTAGGTGCA	LMCD1	ENSG00000071282.12	transcript	ENST00000157600.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRRC27_chr10_132327193_132386508	132364477	C C	CCACCCTT others(697): Show CCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTAC ACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACCCACACTT ACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCTTAC ATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACCCTT ACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGC TTACATCTACCTCCACACCCACAATTACACCCACACTTACATCTACCTCC ACACCCACACTCACACCCACCCACACTCACACCCACCCACACTCACACCC ACCCACACTTACACCCACCCACACTTACACCCACGCTTACATCTACCTCC ACACCCACACTCACACCCACCCACACTCACACCCACCCACACTCACACCC ACCCACACTCACACCCACCCACACTCACACCCACCCACACTCACACCCAC CCACACACCCACGCTTACATCTACCTCCACACCCACACTTACACTCATGC TTACATCTACCTCCACGCCCACACTCACACCCACCCTTACATCTACCTCC ACACCCACACTCACACCCACCCACACTCACACCCACCCTTACATCTACCT CCACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTAC CTCCA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0245 a0001c0002t0004g0245	1	290	0.0035	704	c.129 others(721): Show c.1290-942_1290-941insTTACATCTACCTCCACACCCACACTCAC ACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTT ACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACAC TCACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCAC ACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCC ACACTTACACCCACGCTTACATCTACCTCCACACCCACAATTACACCCAC ACTTACATCTACCTCCACACCCACACTCACACCCACCCACACTCACACCC ACCCACACTCACACCCACCCACACTTACACCCACCCACACTTACACCCAC GCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTCACACCC ACCCACACTCACACCCACCCACACTCACACCCACCCACACTCACACCCAC CCACACTCACACCCACCCACACACCCACGCTTACATCTACCTCCACACCC ACACTTACACTCATGCTTACATCTACCTCCACGCCCACACTCACACCCAC CCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTCACACCC ACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACAC CCACCCTTACATCTACCTCCACACCC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LY75_chr2_159798355_159909756	159874319	G G	GTTTTGTA others(697): Show GTTTTGTAAATATATATAAATATATATATGTTTTGTAAATATATATAAAT ATATGTTTTGTAAATATATATAAATATATATGTTTTGTAAATATACATAA ATATATATGTTTTGTAAATATATATAAATATATATATGTTTTGTAAATAT ATATATATTTTGTAAATATATATATATTTTGTAAATATATATTGTAAATA TATATAAATATATATTTTGTGAATTATATATATATTGTAAATTATATATA TATTTTGTAAATATATATAGTAAATATATATATTTTGTAAATATGTATAT ATATTTTGTAAATATATATATTTTGTAAATATGTATATATATTTTGTAAA TATATACATTTTGTAAATATATAAATATATACATTTTGTAAATATATAAA AATATATACATTTTGTAAATATATAAAAATATATGTTGTAAATATATAAA AATATATATATTTTGTAAATATAAAAATATATATATTTTGTAAATATATA TATATTTTGTAAATATATATAAATATATACATATTTTGTAAATATATAAA TATATACATATTTTGTAAATCTATATAAATATATACATATTTTGTAAATC TATATAAATATATACATATTTTGTAAATCTATATAAATATATACATATTT TGTAAATCTATATAAATATATACATATTTTGTAAATCTATATAAATATAT ACATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0011 a0011	a0011c0066 a0011c0066	a0011c0066t0004 a0011c0066t0004	a0011c0066t0004g0115 a0011c0066t0004g0115	1	330	0.0030	704	c.197 others(723): Show c.1974+1124_1974+1125insTATGTATATATTTATATAGATTTACA AAATATGTATATATTTATATAGATTTACAAAATATGTATATATTTATATA GATTTACAAAATATGTATATATTTATATAGATTTACAAAATATGTATATA TTTATATAGATTTACAAAATATGTATATATTTATATATTTACAAAATATG TATATATTTATATATATTTACAAAATATATATATATTTACAAAATATATA TATTTTTATATTTACAAAATATATATATTTTTATATATTTACAACATATA TTTTTATATATTTACAAAATGTATATATTTTTATATATTTACAAAATGTA TATATTTATATATTTACAAAATGTATATATTTACAAAATATATATACATA TTTACAAAATATATATATTTACAAAATATATATACATATTTACAAAATAT ATATATTTACTATATATATTTACAAAATATATATATAATTTACAATATAT ATATAATTCACAAAATATATATTTATATATATTTACAATATATATTTACA AAATATATATATATTTACAAAATATATATATATTTACAAAACATATATAT ATTTATATATATTTACAAAACATATATATTTATGTATATTTACAAAACAT ATATATTTATATATATTTACAAAACATATATTTATATATATTTACAAAAC ATATATATATTTATATATATTTACAAAA	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
LY75_chr2_159798355_159909756	159874319	G G	GTTTTGTA others(697): Show GTTTTGTAAATATATATAAATATATATATGTTTTGTAAATATATATAAAT ATATGTTTTGTAAATATATATAAATATATATGTTTTGTAAATATACATAA ATATATATGTTTTGTAAATATATATAAATATATATATGTTTTGTAAATAT ATATATATTTTGTAAATATATATATATTTTGTAAATATATATTGTAAATA TATATAAATATATATTTTGTGAATTATATATATATTGTAAATTATATATA TATTTTGTAAATATATATAGTAAATATATATATTTTGTAAATATGTATAT ATATTTTGTAAATATATATATTTTGTAAATATGTATATATATTTTGTAAA TATATACATTTTGTAAATATATAAATATATACATTTTGTAAATATATAAA AATATATACATTTTGTAAATATATAAAAATATATGTTGTAAATATATAAA AATATATATATTTTGTAAATATATAAATATATATATTTTGTAAATATATA TATATTTTGTAAATATATATAAATATATACATATTTTGTAAATATATAAA TATATACATATTTTGTAAATCTATATAAATATATACATATTTTGTAAATC TATATAAATATATACATATTTTGTAAATCTATATAAATATATACATATTT TGTAAATCTATATAAATATATACATATTTTGTAAATCTATATAAATATAT ACATA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0014 a0014	a0014c0022 a0014c0022	a0014c0022t0003 a0014c0022t0003	a0014c0022t0003g0317 a0014c0022t0003g0317	1	330	0.0030	704	c.197 others(723): Show c.1974+1124_1974+1125insTATGTATATATTTATATAGATTTACA AAATATGTATATATTTATATAGATTTACAAAATATGTATATATTTATATA GATTTACAAAATATGTATATATTTATATAGATTTACAAAATATGTATATA TTTATATAGATTTACAAAATATGTATATATTTATATATTTACAAAATATG TATATATTTATATATATTTACAAAATATATATATATTTACAAAATATATA TATTTATATATTTACAAAATATATATATTTTTATATATTTACAACATATA TTTTTATATATTTACAAAATGTATATATTTTTATATATTTACAAAATGTA TATATTTATATATTTACAAAATGTATATATTTACAAAATATATATACATA TTTACAAAATATATATATTTACAAAATATATATACATATTTACAAAATAT ATATATTTACTATATATATTTACAAAATATATATATAATTTACAATATAT ATATAATTCACAAAATATATATTTATATATATTTACAATATATATTTACA AAATATATATATATTTACAAAATATATATATATTTACAAAACATATATAT ATTTATATATATTTACAAAACATATATATTTATGTATATTTACAAAACAT ATATATTTATATATATTTACAAAACATATATTTATATATATTTACAAAAC ATATATATATTTATATATATTTACAAAA	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
LY75_chr2_159798355_159909756	159874319	G G	GTTTTGTA others(697): Show GTTTTGTAAATATATATAAATATATATATGTTTTGTAAATATATATAAAT ATATGTTTTGTAAATATATATAAATATATATGTTTTGTAAATATACATAA ATATATATGTTTTGTAAATATATATAAATGTATATATGTTTTGTAAATAT ATATATATTTTGTAAATATATATATATTTTGTAAATATATATTGTAAATA TATATAAATATATATTTTGTGAATTATATATATATTGTAAATTATATATA TATTTTGTAAATATATATAGTAAATATATATATTTTGTAAATATGTATAT ATATTTTGTAAATATATATATTTTGTAAATATGTATATATATTTTGTAAA TATATACATTTTGTAAATATATAAATATATACATTTTGTAAATATATAAA AATATATACATTTTGTAAATATATAAAAATATATGTTGTAAATATATAAA AATATATATATTTTGTAAATATATAAATATATATATTTTGTAAATATATA TATATTTTGTAAATATATATAAATATATACATATTTTGTAAATATATAAA TATATACATATTTTGTAAATCTATATAAATATATACATATTTTGTAAATC TATATAAATATATACATATTTTGTAAATCTATATAAATATATACATATTT TGTAAATCTATATAAATATATACATATTTTGTAAATCTATATAAATATAT ACATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00140.hp1 HG00323.hp1	a0014 a0014	a0014c0022 a0014c0022	a0014c0022t0001 a0014c0022t0001	a0014c0022t0001g0104 a0014c0022t0001g0105 a0014c0022t0001g0104 a0014c0022t0001g0105	2	330	0.0061	704	c.197 others(723): Show c.1974+1124_1974+1125insTATGTATATATTTATATAGATTTACA AAATATGTATATATTTATATAGATTTACAAAATATGTATATATTTATATA GATTTACAAAATATGTATATATTTATATAGATTTACAAAATATGTATATA TTTATATAGATTTACAAAATATGTATATATTTATATATTTACAAAATATG TATATATTTATATATATTTACAAAATATATATATATTTACAAAATATATA TATTTATATATTTACAAAATATATATATTTTTATATATTTACAACATATA TTTTTATATATTTACAAAATGTATATATTTTTATATATTTACAAAATGTA TATATTTATATATTTACAAAATGTATATATTTACAAAATATATATACATA TTTACAAAATATATATATTTACAAAATATATATACATATTTACAAAATAT ATATATTTACTATATATATTTACAAAATATATATATAATTTACAATATAT ATATAATTCACAAAATATATATTTATATATATTTACAATATATATTTACA AAATATATATATATTTACAAAATATATATATATTTACAAAACATATATAC ATTTATATATATTTACAAAACATATATATTTATGTATATTTACAAAACAT ATATATTTATATATATTTACAAAACATATATTTATATATATTTACAAAAC ATATATATATTTATATATATTTACAAAA	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(697): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGGTG GCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCAC AAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTCTC TACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCC CAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATAGG TTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAATAG AGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCCCTG CAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAAGAG CTCAGCTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCCTCCCGGG TTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTG TGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTT CACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGATCTGCCCG CCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	418	0.0024	704	c.23 others(715): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATTCCTG CGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTTTTTT TTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGTGGCGC GATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGAGTCTG CCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCTGG CTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAGGC TGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTTTTTTTT TTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCATGCCTGTA ATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(697): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGGTGG CTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCACA AGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTCTCT ACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCC AGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATAGGT TGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAATAGA GCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCCCTG CAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAAGAG CTCAGCTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCCTCCCGGG TTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTG TGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTT CACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGATCTGCCCG CCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03491.hp1 HG03492.hp2 others(1): Show HG03239.hp1 HG03491.hp1 HG03492.hp2 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0019 a0002c0002t0016g0073 a0002c0002t0016g0019 a0002c0002t0016g0073	4	418	0.0096	704	c.23 others(715): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATTCCTG CGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTTTTTT TTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGTGGCG CGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGAGTCT GCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCTG GCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCCAGG CTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTTTTTTT TTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCATGCCTGTA ATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(697): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCAGTGGCT CACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCACAAG GTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTCTCTAC TAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCAG CTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATAGGTTG CAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAATAGAGC AAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCCCTGCA ATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAAGAGCT CAGCTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCCTCCCGGG TTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTG TGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTT CACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGATCTGCCCG CCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	418	0.0024	704	c.23 others(715): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATTCC TGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTTTT TTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGTGG CGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGAGT CTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCC TGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCCA GGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCTGCCCTTTTTTTTTTT TTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCATGCCTGTA ATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(697): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCAGTGGCT CACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATCACAAG GTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTCTCTAC TAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAATCCCAG CTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATAGGTTG CAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAATAGAGC AAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAGGCAGCTGAGCCCTGCAA TGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGAAGAGCTC AGCTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTGCCTCCCGGG TTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTG TGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTT CACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTGATCTGCCCG CCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 NA18969.hp2 NA18974.hp1 HG03927.hp2 NA18969.hp2 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0001 a0001c0001t0001g0084 a0001c0001t0008g0101 a0001c0001t0001g0001 a0001c0001t0001g0084 a0001c0001t0008g0101	3	418	0.0072	704	c.23 others(715): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATTC CTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTTT TTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGTGG CGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGAGT CTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACGCC TGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGCCA GGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGTGTGAGCCACTGCGCCCTGCCCTTTTTTTTTTT TTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTCATGCCTGTA ATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(697): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAAAATATATATAAATATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATAAATATATATATAAATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATTTAGCTATATTTATATC AGATAAAATGGATTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCC ATTATATAACGATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTA AATATATATATTATATATATATAAAACCAAAACCAGAAGACCTAAATATA TATATATATATATAAAAAACCAAAACCAGAGGACCTAAATATATATATAT AAATATATAAATATAAATATATAAATATATATATATAATTATATATATAT ATTTAGGTCCTCTGGTTTTGGTTTTTTTTTATATATATATATATTTAGGT CTTCTGGTTTTGGTTTTATATATATATTTATATATTTATATAAATATAAA TATATAAATATATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTT ATATG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	312	0.0032	704	c.293 others(723): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATAAATATATATAAATATATATAAATATATATAAAAATA TATATAAATATATATATAAATATATATAAATATATATAAATATATATATA AATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATAAATATA TATAAATATATATAAATATATATTTAGCTATATTTATATCAGATAAAATG GATTAACAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATAAC GATAAAGCAGTCAATTCTTCAAGAGCATATAACTACTGTAAATATATATA TTATATATATATAAAACCAAAACCAGAAGACCTAAATATATATATATATA TATAAAAAACCAAAACCAGAGGACCTAAATATATATATATAAATATATAA ATATAAATATATAAATATATATATATAATTATATATATATATTTAGGTCC TCTGGTTTTGGTTTTTTTTTATATATATATATATTTAGGTCTTCTGGTTT TGGTTTTATATATATATTTATATATTTATATAAATATAAATATATAAATA TATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTATATGTATAT ATATATATTTAGGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MYRIP_chr3_39804609_40265321	40203770	T T	TATATAGT others(697): Show TATATAGTATATATGTGATATATTTATATATAAATATATGTGATATATTT ATATATAAATATTTATATTTTATATATTTATATATTTTATATATTTATAT ATAAATATTTATATTTTATATATTTATATATTTTATGATTTTATAAAATA TATAATTTATATAATTTATAAATTATATAATTTATATATTATATATAATA TGTTTATATTAAATATTATATATTATATATTATATATTATATATTTATAT TAAATATTATATATTTAATATAATATATAATATATTTATATTAAATATTA TATATTTATATATTATTCATATTTATATTAAATATTATATATTTATATAT TATTCATATTTATATTAAATATTATATATTTATATATTATATATATTTAT ATTAAATATTATATATTTATATATTATATATATTTATATTAAATATTATA TATTTATATATTATATATATTTATATTAAATATTATATATTTATATATTA TATATATTTATATTAAATATTATATATTTATATATTATATATATTTATAT TAAATATTATATATTTATATATTATATATAATATATTTATATTGAATATT ATATATTTATATATTATATATAATATATTTATATTGAATATTATATATTT ATATATTATATATAATATATTTATATTGAATATTATATATTTATATATTA TATAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA19030.hp2 HG02922.hp1 NA19030.hp2	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0008 a0006c0016t0008	a0006c0016t0008g0028 a0006c0016t0008g0139 a0006c0016t0008g0028 a0006c0016t0008g0139	2	170	0.0118	704	c.166 others(723): Show c.1666-6084_1666-6083insATATAGTATATATGTGATATATTTAT ATATAAATATATGTGATATATTTATATATAAATATTTATATTTTATATAT TTATATATTTTATATATTTATATATAAATATTTATATTTTATATATTTAT ATATTTTATGATTTTATAAAATATATAATTTATATAATTTATAAATTATA TAATTTATATATTATATATAATATGTTTATATTAAATATTATATATTATA TATTATATATTATATATTTATATTAAATATTATATATTTAATATAATATA TAATATATTTATATTAAATATTATATATTTATATATTATTCATATTTATA TTAAATATTATATATTTATATATTATTCATATTTATATTAAATATTATAT ATTTATATATTATATATATTTATATTAAATATTATATATTTATATATTAT ATATATTTATATTAAATATTATATATTTATATATTATATATATTTATATT AAATATTATATATTTATATATTATATATATTTATATTAAATATTATATAT TTATATATTATATATATTTATATTAAATATTATATATTTATATATTATAT ATAATATATTTATATTGAATATTATATATTTATATATTATATATAATATA TTTATATTGAATATTATATATTTATATATTATATATAATATATTTATATT GAATATTATATATTTATATATTATATAA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16			chr3	TogoVar
NOC4L_chr12_132139457_132157468	132149309	G G	GCTCACAC others(697): Show GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	294	0.0034	704	c.901 others(719): Show c.901+457_901+458insACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCAC TCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149309	G G	GCTCACAC others(697): Show GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	294	0.0034	704	c.901 others(719): Show c.901+457_901+458insACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCAC TCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132149432	C C	CGCCGCCT others(697): Show CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGC CTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	294	0.0034	704	c.901 others(719): Show c.901+580_901+581insGGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAA TCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGG CCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCT CGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCA CACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150453	C C	CACCACAC others(697): Show CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCATACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACT CCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCA CTCCT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	294	0.0034	704	c.902 others(719): Show c.902-446_902-445insACTCATACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC CCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCAC TCCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150712	G G	GCTCACAC others(697): Show GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCAC ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCC TAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	294	0.0034	704	c.902 others(719): Show c.902-235_902-234insGGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGT GCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCT CGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCA CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCAC ACCCCTAATCCCCTCGGTGAGTGC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOC4L_chr12_132139457_132157468	132150747	C C	CGCCGCCT others(697): Show CGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGT GCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACAC CCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCT CGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGA GTGCG	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	294	0.0034	704	c.902 others(719): Show c.902-226_902-225insACTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCC TAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCC CCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTG CGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCAC TCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAAT CCCCTCGGTGAGTGCGGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(697): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATATAAAGTATATATATAATATATATAATATATATTATAT ATATAAAGTATATATATAATATATATAATATATATAAAGTATATATATAA TATATATAATATATATTATATATATAAAGTATATATATAATATATATAAT ATATATTATATATATAAAGTATATATATTATATATATAATATATATTATA TATATAAAGTATATATATAATATATATAATATATATTATATATAAAGTAT ATATATAATATATATAATATATATTATATATATAAAGTATATATATAATA TATATAATATATATTATATATATAAAGTATATATATAATATATATAATAT ATATTATATATATAAAGTATATATATAATATATATAATATATATTATATA TATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTAT ATATATAATATATATAATATATATTATATATATAAAGTATATATATAATA TATATAATATATATTATATATATAAAGTATATATATAATATATATAATAT ATATTATATATATAAAGTATATATATAATATATATTATATATAAAGTATA TATATAATATATATTATATATATATAAAATATATAATATATATTATATAT ATAAG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0250 a0001c0001t0004g0250	1	308	0.0033	704	c.730 others(721): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATATAATATATATTATATATATTATATATATA CTTTATATATATAATATATATTATATATATTATATATATACTTTATATAT ATAATATATATTATATATATTATATATATACTTTATATATATAATATATA TTATATATATTATATATATACTTTATATATATAATATATATTATATATAT TATATATATACTTTATATATATAATATATATTATATATATTATATATATA CTTTATATATATAATATATATTATATATATTATATATATACTTTATATAT ATAATATATATTATATATATTATATATATACTTTATATATAATATATATT ATATATATTATATATATACTTTATATATATAATATATATTATATATATAA TATATATACTTTATATATATAATATATATTATATATATTATATATATACT TTATATATATAATATATATTATATATATTATATATATACTTTATATATAT TATATATATTATATATATACTTTATATATATAATATATATTATATATATT ATATATATACTTTATATATATAATATATATTATATATATTATATATATAC TTTATATATATAATATATATTATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(697): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATATAAAGTATATATATAATATATATAATATATATTATAT ATATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTA TATATATAATATATATTATATATATAAAGTATATATATAATATATATAAT ATATATTATATATATAAAGTATATATATAATATATATAATATATATTATA TATATAAAGTATATATATAATATATATAATATATATTATATATATAAAGT ATATATATTATATATATAATATATATTATATATATAAAGTATATATATAA TATATATAATATATATTATATATAAAGTATATATATAATATATATAATAT ATATTATATATATAAAGTATATATATAATATATATAATATATATTATATA TATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTAT ATATATAATATATATAATATATATTATATATATAAAGTATATATATAATA TATATAATATATATTATATATATAAAGTATATATATAATATATATAATAT ATATTATATATATAAAGTATATATATAATATATATTATATATAAAGTATA TATATAATATATATTATATATATATAAAATATATAATATATATTATATAT ATAAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02976.hp1 HG03130.hp2 others(1): Show HG02647.hp1 HG02976.hp1 HG03130.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0004g0260 others(1): Show a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0261	4	308	0.0130	704	c.730 others(721): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATATAATATATATTATATATATTATATATATA CTTTATATATATAATATATATTATATATATTATATATATACTTTATATAT ATAATATATATTATATATATTATATATATACTTTATATATATAATATATA TTATATATATTATATATATACTTTATATATATAATATATATTATATATAT TATATATATACTTTATATATATAATATATATTATATATATTATATATATA CTTTATATATAATATATATTATATATATTATATATATACTTTATATATAT AATATATATTATATATATAATATATATACTTTATATATATAATATATATT ATATATATTATATATATACTTTATATATATAATATATATTATATATATTA TATATATACTTTATATATATAATATATATTATATATATTATATATATACT TTATATATATAATATATATTATATATATACTTTATATATATAATATATAT TATATATATTATATATATACTTTATATATATAATATATATTATATATATT ATATATATACTTTATATATATAATATATATTATATATATTATATATATAC TTTATATATATAATATATATTATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(697): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATATAAAGTATATATATAATATATATAATATATATTATAT ATATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTA TATATATAATATATATTATATATATAAAGTATATATATAATATATATAAT ATATATTATATATATAAAGTATATATATAATATATATAATATATATTATA TATATAAAGTATATATATAATATATATAATATATATTATATATATAAAGT ATATATATTATATATATAATATATATTATATATATAAAGTATATATATAA TATATATAATATATATTATATATAAAGTATATATATAATATATATAATAT ATATTATATATATAAAGTATATATATAATATATATAATATATATTATATA TATAAAGTATATATATAATATATATTATATATATTATATATATAAAGTAT ATATATAATATATATAATATATATTATATATATAAAGTATATATATAATA TATATAATATATATTATATATATAAAGTATATATATAATATATATAATAT ATATTATATATATAAAGTATATATATAATATATATTATATATAAAGTATA TATATAATATATATTATATATATATAAAATATATAATATATATTATATAT ATAAG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0165 a0001c0001t0004g0165	1	308	0.0033	704	c.730 others(721): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATATAATATATATTATATATATTATATATATA CTTTATATATATAATATATATTATATATATTATATATATACTTTATATAT ATAATATATATTATATATATTATATATATACTTTATATATATAATATATA TAATATATATTATATATATACTTTATATATATAATATATATTATATATAT TATATATATACTTTATATATATAATATATATTATATATATTATATATATA CTTTATATATAATATATATTATATATATTATATATATACTTTATATATAT AATATATATTATATATATAATATATATACTTTATATATATAATATATATT ATATATATTATATATATACTTTATATATATAATATATATTATATATATTA TATATATACTTTATATATATAATATATATTATATATATTATATATATACT TTATATATATAATATATATTATATATATACTTTATATATATAATATATAT TATATATATTATATATATACTTTATATATATAATATATATTATATATATT ATATATATACTTTATATATATAATATATATTATATATATTATATATATAC TTTATATATATAATATATATTATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(697): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATATAAAGTATATATATAATATATATAATATATATTATAT ATATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTA TATATATAATATATATTATATATATAAAGTATATATATAATATATATAAT ATATATTATATATATAAAGTATATATATAATATATATAATATATATTATA TATATAAAGTATATATATTATATATATAATATATATTATATATATAAAGT ATATATATAATATATATAATATATATTATATATAAAGTATATATATAATA TATATAATATATATTATATATATAAAGTATATATATAATATATATAATAT ATATTATATATATAAAGTATATATATAATATATATAATATATATTATATA TATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTAT ATATATAATATATATAATATATATTATATATATAAAGTATATATATAATA TATATAATATATATTATATATATAAAGTATATATATAATATATATAATAT ATATTATATATATAAAGTATATATATAATATATATTATATATAAAGTATA TATATAATATATATTATATATATATAAAATATATAATATATATTATATAT ATAAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0255 a0001c0001t0004g0255	1	308	0.0033	704	c.730 others(721): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATATAATATATATTATATATATTATATATATA CTTTATATATATAATATATATTATATATATTATATATATACTTTATATAT ATAATATATATTATATATATTATATATATACTTTATATATATAATATATA TTATATATATTATATATATACTTTATATATATAATATATATTATATATAT TATATATATACTTTATATATATAATATATATTATATATATTATATATATA CTTTATATATATAATATATATTATATATATTATATATATACTTTATATAT AATATATATTATATATATTATATATATACTTTATATATATAATATATATT ATATATATAATATATATACTTTATATATATAATATATATTATATATATTA TATATATACTTTATATATATAATATATATTATATATATTATATATATACT TTATATATATAATATATATTATATATATACTTTATATATATAATATATAT TATATATATTATATATATACTTTATATATATAATATATATTATATATATT ATATATATACTTTATATATATAATATATATTATATATATTATATATATAC TTTATATATATAATATATATTATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
OSGIN1_chr16_83948240_83971332	83950464	T T	TACTGGCA others(697): Show TACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACA TACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATG CACATACATACTGGCACACGTACACACACATGCACACATGAGCACATGTG CACACATGCACATACATACTGGCACACACGTACACACACATGCACACATG AGCACATGTGCACACGTACACATACATACTGGCACACACGTACACACATG CACACATGAGCACATGTGCACACATGCACATACATACTGGCACACACGTA CATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACACA CGTACATGCACACATGAGCACATGTGCACACATGCACATACATACCGGCA CACGTACACACATGCACACATGAACACATGTGCACACGTACACACACATG CACACATGAGCACATGTGCACACATGCACATACATACTGGCACACACGTA CATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCACACG TACACACACGCACACATGAGCACATGTGCACACATGCACATACATACTGG CACACACGTACACACATGCATACATGAGCACATGTGCACACATGCACATA CATACTGGCACACGTACACGCACACATGAGCACATGTGCACACATGCCCA TACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0005 a0001c0002t0004g0005	1	350	0.0029	704	c.-29 others(715): Show c.-2939_-2938insACTGGCACACACGTACATGCACACATGAGCACAT GTGCACACATGCACATACATACTGGCACACACGTACATGCACACATGAGC ACATGTGCACACATGCACATACATACTGGCACACGTACACACACATGCAC ACATGAGCACATGTGCACACATGCACATACATACTGGCACACACGTACAC ACACATGCACACATGAGCACATGTGCACACGTACACATACATACTGGCAC ACACGTACACACATGCACACATGAGCACATGTGCACACATGCACATACAT ACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACAT ACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGC ACATACATACCGGCACACGTACACACATGCACACATGAACACATGTGCAC ACGTACACACACATGCACACATGAGCACATGTGCACACATGCACATACAT ACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACAT ACATACTGGCACACGTACACACACGCACACATGAGCACATGTGCACACAT GCACATACATACTGGCACACACGTACACACATGCATACATGAGCACATGT GCACACATGCACATACATACTGGCACACGTACACGCACACATGAGCACAT GTGCACACATGCCCATACAC	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2775		chr16	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(697): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACAGAT AGATGTATCTATCTATAGATAGACAGATAGATGTATCTATCGATAGACAG ATAGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	436	0.0023	704	c.-26 others(715): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATC TGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTG TCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTC TATCTATAGATAGATACATCTATCTGTCTATCTATAGATAGATACATCTA TATGTCTATCTATAGATAGATACATCTATATGTCTATCTATAGATAGATA CATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(697): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	704	c.-26 others(715): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATA GATACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATC TATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTA TCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATC TGTCTATCGATAGATACATCTATATGTCTATCTATAGATAGATACATCTA TATGTCTATCTATAGATAGATACATCTATATGTCTATCTATAGATAGATA CATCTATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PGBD2_chr1_248901235_248924146	248911643	A A	AGACGGGG others(697): Show AGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCGGTCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGT CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCGGTCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCTG	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA19240.hp2 HG03209.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0150 a0001c0001t0001g0151	2	422	0.0047	704	c.-47 others(721): Show c.-47-2121_-47-2120insCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGTCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGTCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGTCGGGG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGC	PGBD2	ENSG00000185220.12	transcript	ENST00000329291.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLCB1_chr20_8127266_8889900	8662119	T T	TATATATA others(697): Show TATATATAATTATATATAATTATATATAATTATATATATATAATTATATA TAATTATATATAATTATATAATTATATATAATTGTATATAATTATTTATT ATATAATTATATATTATTTATTATATAATTATATAATTATATATTATTTA TTATATATTATATAATTATATAATTATATATTATTTATTATATAATATAT AATTATATATTATTTATTATATAATTATATATTATTTATTATATATATTA TTTATTATATAATTATATATTATGTATTATATAATTATATAATTATATAT TATGTATTATATAATTATATATTATGTATTATATAATTATATAATTATAT ATTATGTATTATATAATTATATATTATTTATTATATAATTATATAATTAT ATATTATTTATTATATAATTATATAATTATATATTATTTATTATATAATT ATATAATTATATATTATTTATTATATAATTATATAATTATATATTATTTA TTATATAATTATATATTATTTATTATATAATTATATATTATTTATTACAT AAATATATATTATTTATTACATAAGTATATATCACTTATTATATAATTGC ATATAATTATTTATTATATAATTGCATATAATTATTTATTATATAATTGT ATATAGTTATTTATTATATAATTGTATATAGTTATTTATTATATAATTCT ATATA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0009 a0001c0003t0002g0009	1	106	0.0094	704	c.862 others(721): Show c.862+3417_862+3418insATATAATTATATATAATTATATATAATT ATATATATATAATTATATATAATTATATATAATTATATAATTATATATAA TTGTATATAATTATTTATTATATAATTATATATTATTTATTATATAATTA TATAATTATATATTATTTATTATATATTATATAATTATATAATTATATAT TATTTATTATATAATATATAATTATATATTATTTATTATATAATTATATA TTATTTATTATATATATTATTTATTATATAATTATATATTATGTATTATA TAATTATATAATTATATATTATGTATTATATAATTATATATTATGTATTA TATAATTATATAATTATATATTATGTATTATATAATTATATATTATTTAT TATATAATTATATAATTATATATTATTTATTATATAATTATATAATTATA TATTATTTATTATATAATTATATAATTATATATTATTTATTATATAATTA TATAATTATATATTATTTATTATATAATTATATATTATTTATTATATAAT TATATATTATTTATTACATAAATATATATTATTTATTACATAAGTATATA TCACTTATTATATAATTGCATATAATTATTTATTATATAATTGCATATAA TTATTTATTATATAATTGTATATAGTTATTTATTATATAATTGTATATAG TTATTTATTATATAATTCTATATAAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PPP1R7_chr2_241145467_241188652	241178692	C C	CGCTCACT others(697): Show CGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCATGCCCAGCTAGTT TTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTGGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTCCAATCTTTTCTCTG GTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCTCGGCCGGGTGCGG TCAGGAGATCGAGACCATCCTGGCTAACACCATCGCTACTAAAACTACAA AAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCAGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACAGTGCGAGACTCCA TCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGAAATATGCCAAAAT GAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTTTATACTCTATAGT TCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTTTTTTTTTTTTTTT TTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAATGTAGTGGCGCGA TCTCG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0200 a0001c0001t0003g0200	1	396	0.0025	704	c.907 others(721): Show c.907-3947_907-3946insCAACCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCA TGCCCAGCTAGTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTT GGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTCC AATCTTTTCTCTGGTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCT CGGCCGGGTGCGGTCAGGAGATCGAGACCATCCTGGCTAACACCATCGCT ACTAAAACTACAAAAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTC TCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCA GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACA GTGCGAGACTCCATCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGA AATATGCCAAAATGAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTT TATACTCTATAGTTCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTT TTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAA TGTAGTGGCGCGATCTCGGCTCACTG	PPP1R7	ENSG00000115685.15	transcript	ENST00000234038.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPP1R7_chr2_241145467_241188652	241178692	C C	CGCTCACT others(697): Show CGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCATGCCCAGCTAGTT TTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTC TCAATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTCCAATCTTTTCTCTG GTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCTCGGCCGGGTGCGG TCAGGAGATCGAGACCATCCTGGCTAACACCATCGCTACTAAAACTACAA AAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCAGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACAGTGCGAGACTCCA TCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGAAATATGCCAAAAT GAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTTTATACTCTATAGT TCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTTTTTTTTTTTTTTT TTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAATGTAGTGGCGCGA TCTCG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0201 a0001c0001t0003g0201	1	396	0.0025	704	c.907 others(721): Show c.907-3947_907-3946insCAACCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCA TGCCCAGCTAGTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTT AGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTCC AATCTTTTCTCTGGTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCT CGGCCGGGTGCGGTCAGGAGATCGAGACCATCCTGGCTAACACCATCGCT ACTAAAACTACAAAAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTC TCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCA GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACA GTGCGAGACTCCATCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGA AATATGCCAAAATGAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTT TATACTCTATAGTTCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTT TTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAA TGTAGTGGCGCGATCTCGGCTCACTG	PPP1R7	ENSG00000115685.15	transcript	ENST00000234038.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPP1R7_chr2_241145467_241188652	241178692	C C	CGCTCACT others(697): Show CGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCATGCCCAGCTAGTT TTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTCCAATCTTTTCTCTG GTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCTCGGCCGGGTGCGG TCAGGAGATCGAGACCATCCTGGCTAACACCATCGCTACTAAAACTACAA AAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCAGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACAGTGCGAGACTCCA TCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGAAATATGCCAAAAT GAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTTTATACTCTATAGT TCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTTTTTTTTTTTTTTT TTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAATGTAGTGGCGCGA TCTCG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02717.hp2 HG03195.hp1 others(2): Show HG02257.hp2 HG02717.hp2 HG03195.hp1 HG03209.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0038 a0001c0001t0006g0041 a0001c0001t0007g0039 others(2): Show a0001c0001t0006g0038 a0001c0001t0006g0041 a0001c0001t0007g0039 a0001c0001t0007g0040 a0001c0001t0007g0042	5	396	0.0126	704	c.907 others(721): Show c.907-3947_907-3946insCAACCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCA TGCCCAGCTAGTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTCC AATCTTTTCTCTGGTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCT CGGCCGGGTGCGGTCAGGAGATCGAGACCATCCTGGCTAACACCATCGCT ACTAAAACTACAAAAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTC TCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCA GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACA GTGCGAGACTCCATCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGA AATATGCCAAAATGAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTT TATACTCTATAGTTCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTT TTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAA TGTAGTGGCGCGATCTCGGCTCACTG	PPP1R7	ENSG00000115685.15	transcript	ENST00000234038.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPP1R7_chr2_241145467_241188652	241178692	C C	CGCTCACT others(697): Show CGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCATGCCCAGCTAGTT TTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGG GATTACAGGCATGAGCCACCGCGCCCGGCCTCCTTCCAATCTTTTCTCTG GTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCTCGGCCGGGTGCGG TCAGGAGATCGAGACCATCCTGGCTAACACCATCGCTACTAAAACTACAA AAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCAGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACAGTGCGAGACCCCA TCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGAAATATGCCAAAAT GAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTTTATACTCTATAGT TCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTTTTTTTTTTTTTTT TTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAATGTAGTGGCGCGA TCTCG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01175.hp2 HG01070.hp1 HG01071.hp1 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	3	396	0.0076	704	c.907 others(721): Show c.907-3947_907-3946insCAACCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCA TGCCCAGCTAGTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCT CCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCTCCTTCC AATCTTTTCTCTGGTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCT CGGCCGGGTGCGGTCAGGAGATCGAGACCATCCTGGCTAACACCATCGCT ACTAAAACTACAAAAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTC TCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCA GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACA GTGCGAGACCCCATCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGA AATATGCCAAAATGAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTT TATACTCTATAGTTCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTT TTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAA TGTAGTGGCGCGATCTCGGCTCACTG	PPP1R7	ENSG00000115685.15	transcript	ENST00000234038.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPP1R7_chr2_241145467_241188652	241178692	C C	CGCTCACT others(697): Show CGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCATGCCCAGCTAGTT TTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGG GATTACAGGCATGAGCCACCGCGCCCGGCCTCCTTCCAATCTTTTCTCTG GTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCTCGGCCGGGTGCGG TCAGGAGATCGAGACCATCCTGGCTAACACCATCGCTACTAAAACTACAA AAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCAGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACAGTGCGAGACTCCA TCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGAAATATGCCAAAAT GAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTTTATACTCTATAGT TCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTTTTTTTTTTTTTTT TTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAATGTAGTGGCGCGA TCTCG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01106.hp2 HG01168.hp1 others(16): Show HG00733.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01358.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG02055.hp2 HG02698.hp1 HG02895.hp1 HG03654.hp1 HG03834.hp2 HG04199.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0003 a0001c0001t0005 a0002c0004t0003 a0001c0001t0003 a0001c0001t0005 a0002c0004t0003	a0001c0001t0003g0011 a0001c0001t0003g0027 a0001c0001t0003g0112 others(14): Show a0001c0001t0003g0011 a0001c0001t0003g0027 a0001c0001t0003g0112 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0172 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0180 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0191 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0204 a0001c0001t0005g0163 a0002c0004t0003g0027	19	396	0.0480	704	c.907 others(721): Show c.907-3947_907-3946insCAACCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCA TGCCCAGCTAGTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCT CCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCTCCTTCC AATCTTTTCTCTGGTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCT CGGCCGGGTGCGGTCAGGAGATCGAGACCATCCTGGCTAACACCATCGCT ACTAAAACTACAAAAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTC TCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCA GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACA GTGCGAGACTCCATCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGA AATATGCCAAAATGAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTT TATACTCTATAGTTCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTT TTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAA TGTAGTGGCGCGATCTCGGCTCACTG	PPP1R7	ENSG00000115685.15	transcript	ENST00000234038.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPP1R7_chr2_241145467_241188652	241178692	C C	CGCTCACT others(697): Show CGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCATGCCCAGCTAGTT TTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTCCAATCTTTTCTCTG GTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCTCGGCCGGGTGCGG TCAGGAGATCGAGACCATCCTGGCTAACACCATCGCTACTAAAACTACAA AAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCAGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACAGTGCGAGACTCCA TCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGAAATATGCCAAAAT GAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTTTATACTCTATAGT TCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTTTTTTTTTTTTTTT TTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAATGTAGTGGCGCGA TCTCG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00621.hp2 others(96): Show HG00280.hp2 HG00323.hp1 HG00621.hp2 HG00738.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01123.hp2 HG01168.hp2 HG01255.hp2 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01975.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02258.hp2 HG02273.hp2 HG02293.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02698.hp2 HG02818.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04204.hp1 NA18522.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18959.hp1 NA18961.hp2 NA18964.hp2 NA18966.hp1 NA18971.hp1 NA18975.hp1 NA18977.hp1 NA18981.hp2 NA18988.hp1 NA18988.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19003.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19054.hp1 NA19058.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19081.hp1 NA19085.hp1 NA19087.hp1 NA19091.hp2 NA19240.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011	a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0196 others(61): Show a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0196 a0001c0001t0001g0202 a0001c0001t0001g0288 a0001c0001t0003g0006 a0001c0001t0003g0010 a0001c0001t0003g0020 a0001c0001t0003g0026 a0001c0001t0003g0058 a0001c0001t0003g0128 a0001c0001t0003g0162 a0001c0001t0003g0165 a0001c0001t0003g0167 a0001c0001t0003g0169 a0001c0001t0003g0171 a0001c0001t0003g0176 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0004g0043 a0001c0001t0004g0070 a0001c0001t0005g0002 a0001c0001t0005g0015 a0001c0001t0005g0017 a0001c0001t0005g0045 a0001c0001t0005g0049 a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 a0001c0001t0005g0064 a0001c0001t0005g0065 a0001c0001t0005g0067 a0001c0001t0005g0068 a0001c0001t0005g0071 a0001c0001t0005g0072 a0001c0001t0005g0073 a0001c0001t0005g0203 a0001c0001t0006g0037 a0001c0001t0006g0047 a0001c0001t0006g0287 a0001c0001t0006g0289 a0001c0001t0006g0290 a0001c0001t0006g0291 a0001c0001t0007g0003 a0001c0001t0007g0008 a0001c0001t0007g0013 a0001c0001t0007g0035 a0001c0001t0007g0036 a0001c0001t0007g0057 a0001c0001t0007g0066 a0001c0001t0007g0080 a0001c0001t0007g0081 a0001c0001t0007g0082 a0001c0001t0007g0083 a0001c0001t0007g0085 a0001c0001t0007g0086 a0001c0001t0007g0087 a0001c0001t0007g0097 a0001c0001t0007g0286 a0001c0001t0011g0010 a0001c0001t0011g0199	99	396	0.2500	704	c.907 others(721): Show c.907-3947_907-3946insCAACCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCA TGCCCAGCTAGTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTCC AATCTTTTCTCTGGTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCT CGGCCGGGTGCGGTCAGGAGATCGAGACCATCCTGGCTAACACCATCGCT ACTAAAACTACAAAAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTC TCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCA GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACA GTGCGAGACTCCATCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGA AATATGCCAAAATGAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTT TATACTCTATAGTTCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTT TTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAA TGTAGTGGCGCGATCTCGGCTCACTG	PPP1R7	ENSG00000115685.15	transcript	ENST00000234038.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPP1R7_chr2_241145467_241188652	241178692	C C	CGCTCACT others(697): Show CGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCATGCCCAGCTAGTT TTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTCCAATCTTTTCTCTG GTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCTCGGCCGGGTGCGG TCAGGAGATCGAGACCATCCTGGCTAACACCATCGCTACTAAAACTACAA AAATATTAGCCGGGCGTGGTGGCAGGTGCCTGTAGTCTCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCAGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACAGTGCGAGACTCCA TCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGAAATATGCCAAAAT GAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTTTATACTCTATAGT TCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTTTTTTTTTTTTTTT TTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAATGTAGTGGCGCGA TCTCG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0084 a0001c0001t0007g0084	1	396	0.0025	704	c.907 others(721): Show c.907-3947_907-3946insCAACCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCA TGCCCAGCTAGTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCTCCTTGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTCC AATCTTTTCTCTGGTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCT CGGCCGGGTGCGGTCAGGAGATCGAGACCATCCTGGCTAACACCATCGCT ACTAAAACTACAAAAATATTAGCCGGGCGTGGTGGCAGGTGCCTGTAGTC TCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCA GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACA GTGCGAGACTCCATCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGA AATATGCCAAAATGAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTT TATACTCTATAGTTCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTT TTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAA TGTAGTGGCGCGATCTCGGCTCACTG	PPP1R7	ENSG00000115685.15	transcript	ENST00000234038.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PPP1R7_chr2_241145467_241188652	241178692	C C	CGCTCACT others(697): Show CGCTCACTGCAACCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCATGCCCAGCTAGTT TTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTTGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTCCAATCTTTTCTCTG GTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCTCGGCCGGGTGCGG TCAGGAGATCGAGACCATCCTGGCTAACACCATCGCTACTAAAACTACAA AAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTCTCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCAGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACAGTGCGAGACTCCA TCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGAAATATGCCAAAAT GAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTTTATACTCTATAGT TCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTTTTTTTTTTTTTTT TTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAATGTAGTGGCGCGA TCTCG	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0059 a0001c0001t0005g0059	1	396	0.0025	704	c.907 others(721): Show c.907-3947_907-3946insCAACCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGGCTACAGGCATCCGCCACCA TGCCCAGCTAGTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGTT AGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCACCTCAGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCCTTCC AATCTTTTCTCTGGTGTCTACATGCACTGAGTTTAAGAATAGCTAGATCT CGGCCGGGTGCGGTCAGGAGATCGAGACCATCCTGGCTAACACCATCGCT ACTAAAACTACAAAAATATTAGCCGGGCGTGGTGGCAGGCGCCTGTAGTC TCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACTCGGGAGGCA GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTTCAGCCTGGGCGACA GTGCGAGACTCCATCTCAAAAAAATAAAAAAAGAAAAGACATTGGGAGGA AATATGCCAAAATGAGAAGCCCTTGTGGGTAGTTGGTTTCTTTTTTCCTT TATACTCTATAGTTCTCCTGAATTTTCTGTAATGAGCATGTATTTCTTTT TTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCAGGCTGGAA TGTAGTGGCGCGATCTCGGCTCACTG	PPP1R7	ENSG00000115685.15	transcript	ENST00000234038.11	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar

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Search Results (Total: 8931 hits)