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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
HS3ST6_chr16_1906475_1923415	1920291	C C	CAATCTCA others(623): Show CAATCTCAGCTGTCCCCACGGTCTCAGGAGTCCCCACAGTCTCAGCTATC CCCATGGTCTCAGCCATCCCCGTGGTCTCAGCAGTCCCCATGGTCTCAGG AGTCCCCACGGTCTCAGCCATCCCCACGGTCTCAGCAGTCCCCACGGTCT CAGCCGTCCCCACGGTCTCAGGAGTCCCCACGGACTCAGCCGTCCCCAGG GTCTCAGCCATCCCCAGGGTCTCAGCCGTCCCCACGGTCCCAGCCGTCCC CACCGTCTCAGCAGTCCCCACGGTCTCAGCCGTCCCCATGGTCTCAGCAG TCCCCACGGTCTCAGGAGTCCCCACGGTCTCAGCAGTCCCCACGGTCTCA GCCGTCCCCACCGTCTCAGGAGTCCCCACCATCTCAGCCGTCCCCACGGT CTCAGGAGTCCCCATGGTCTCAACCGTCTCCACGGTCTCAGGAGTCCCCA CGGTCTCAGGAGCCCCCACGGTCTCAGGAGCCCCCACGGTCTCAGTCATC CCCACGGTCCCAGCCGTCCCCACGGTCCAAGCCGTCCCCACGGTCCCAGC CGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCCGCAGTCCCCACGGTCT CAGCCATCCCCACGGTCTCAGGAGTCCCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	433	0.0023	630	c.-19 others(641): Show c.-1969_-1968insATGGGGACTCCTGAGACCGTGGGGATGGCTGAGA CCGTGGGGACTGCGGAGACCGTGGGGACGGCTGAGACCGTGGGGACGGCT GGGACCGTGGGGACGGCTTGGACCGTGGGGACGGCTGGGACCGTGGGGAT GACTGAGACCGTGGGGGCTCCTGAGACCGTGGGGGCTCCTGAGACCGTGG GGACTCCTGAGACCGTGGAGACGGTTGAGACCATGGGGACTCCTGAGACC GTGGGGACGGCTGAGATGGTGGGGACTCCTGAGACGGTGGGGACGGCTGA GACCGTGGGGACTGCTGAGACCGTGGGGACTCCTGAGACCGTGGGGACTG CTGAGACCATGGGGACGGCTGAGACCGTGGGGACTGCTGAGACGGTGGGG ACGGCTGGGACCGTGGGGACGGCTGAGACCCTGGGGATGGCTGAGACCCT GGGGACGGCTGAGTCCGTGGGGACTCCTGAGACCGTGGGGACGGCTGAGA CCGTGGGGACTGCTGAGACCGTGGGGATGGCTGAGACCGTGGGGACTCCT GAGACCATGGGGACTGCTGAGACCACGGGGATGGCTGAGACCATGGGGAT AGCTGAGACTGTGGGGACTCCTGAGACCGTGGGGACAGCTGAGATT		HS3ST6	ENSG00000162040.7	transcript	ENST00000454677.3	protein_coding					1877		chr16	TogoVar
HS3ST6_chr16_1906475_1923415	1920291	C C	CAATCTCA others(623): Show CAATCTCAGCTGTCCCCACGGTCTCAGGAGTCCCCACAGTCTCAGCTATC CCCATGGTCTCAGCCATCCCCGTGGTCTCAGCAGTCCCCATGGTCTCAGG AGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCAGCAGTCCCCACGGTCT CAGCCATCCCCACGGTCTCAGGAGTCCCCACGGACTCAGCCGTCCCCAGG GTCTCAGCCATCCCCAGGGTCTCAGCCGTCCCCACGGTCCCAGCCGTCCC CACCGTCTCAGCAGTCCCCACGGTCTCAGCCGTCCCCATGGTCTCAGCAG TCCCCACGGTCTCAGGAGTCCCCACGGTCTCAGCAGTCCCCACGGTCTCA GCCGTCCCCACCGTCTCAGGAGTCCCCACCATCTCAGCCGTCCCCACGGT CTCAGGAGTCCCCATGGTCTCAACCGTCTCCACGGTCTCAGGAGTCCCCA CGGTCTCAGGAGCCCCCACGGTCTCAGGAGCCCCCACGGTCTCAGTCATC CCCACGGTCCCAGCCGTCCCCACGGTCCAAGCCGTCCCCACGGTCCCAGC CGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCCGCAGTCCCCACGGTCT CAGCCATCCCCACGGTCTCAGGAGTCCCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0025 a0007c0009t0001g0025	1	433	0.0023	630	c.-19 others(641): Show c.-1969_-1968insATGGGGACTCCTGAGACCGTGGGGATGGCTGAGA CCGTGGGGACTGCGGAGACCGTGGGGACGGCTGAGACCGTGGGGACGGCT GGGACCGTGGGGACGGCTTGGACCGTGGGGACGGCTGGGACCGTGGGGAT GACTGAGACCGTGGGGGCTCCTGAGACCGTGGGGGCTCCTGAGACCGTGG GGACTCCTGAGACCGTGGAGACGGTTGAGACCATGGGGACTCCTGAGACC GTGGGGACGGCTGAGATGGTGGGGACTCCTGAGACGGTGGGGACGGCTGA GACCGTGGGGACTGCTGAGACCGTGGGGACTCCTGAGACCGTGGGGACTG CTGAGACCATGGGGACGGCTGAGACCGTGGGGACTGCTGAGACGGTGGGG ACGGCTGGGACCGTGGGGACGGCTGAGACCCTGGGGATGGCTGAGACCCT GGGGACGGCTGAGTCCGTGGGGACTCCTGAGACCGTGGGGATGGCTGAGA CCGTGGGGACTGCTGAGACCGTGGGGACGGCTGAGACCGTGGGGACTCCT GAGACCATGGGGACTGCTGAGACCACGGGGATGGCTGAGACCATGGGGAT AGCTGAGACTGTGGGGACTCCTGAGACCGTGGGGACAGCTGAGATT		HS3ST6	ENSG00000162040.7	transcript	ENST00000454677.3	protein_coding					1877		chr16	TogoVar
HS3ST6_chr16_1906475_1923415	1920291	C C	CAATCTCA others(623): Show CAATCTCAGCTGTCCCCACGGTCTCAGGAGTCCCCACAGTCTCAGCTATC CCCATGGTCTCAGCCATCCCCGTGGTCTCAGCAGTCCCCATGGTCTCAGG AGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCAGCAGTCCCCACGGTCT CAGCCGTCCCCACGGTCTCAGGAGTCCCCACGGACTCAGCCGTCCCCAGG GTCTCAGCCATCCCCAGGGTCTCAGCCGTCCCCACGGTCCCAGCCGTCCC CACCGTCTCAGCAGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCAGCAG TCCCCACGGTCTCAGGAGTCCCCACGGTCTCAGCAGTCCCCACGGTCTCA GCCGTCCCCACCGTCTCAGGAGTCCCCACCATCTCAGCCGTCCCCACGGT CTCAGGAGTCCCCATGGTCTCAACCGTCTCCACGGTCTCAGGAGTCCCCA CGGTCTCAGGAGCCCCCACGGTCTCAGGAGCCCCCACGGTCTCAGTCATC CCCACGGTCCCAGCCGTCCCCACGGTCCAAGCCGTCCCCACGGTCCCAGC CGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCCGCAGTCCCAACGGTCT CAGCCATCCCCACGGTCTCAGGAGTCCCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18990.hp2 NA19003.hp1 NA18950.hp2 NA18990.hp2 NA19003.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0003 a0006c0008t0003	a0006c0008t0003g0019 a0006c0008t0003g0019	3	433	0.0069	630	c.-19 others(641): Show c.-1969_-1968insATGGGGACTCCTGAGACCGTGGGGATGGCTGAGA CCGTTGGGACTGCGGAGACCGTGGGGACGGCTGAGACCGTGGGGACGGCT GGGACCGTGGGGACGGCTTGGACCGTGGGGACGGCTGGGACCGTGGGGAT GACTGAGACCGTGGGGGCTCCTGAGACCGTGGGGGCTCCTGAGACCGTGG GGACTCCTGAGACCGTGGAGACGGTTGAGACCATGGGGACTCCTGAGACC GTGGGGACGGCTGAGATGGTGGGGACTCCTGAGACGGTGGGGACGGCTGA GACCGTGGGGACTGCTGAGACCGTGGGGACTCCTGAGACCGTGGGGACTG CTGAGACCGTGGGGACGGCTGAGACCGTGGGGACTGCTGAGACGGTGGGG ACGGCTGGGACCGTGGGGACGGCTGAGACCCTGGGGATGGCTGAGACCCT GGGGACGGCTGAGTCCGTGGGGACTCCTGAGACCGTGGGGACGGCTGAGA CCGTGGGGACTGCTGAGACCGTGGGGACGGCTGAGACCGTGGGGACTCCT GAGACCATGGGGACTGCTGAGACCACGGGGATGGCTGAGACCATGGGGAT AGCTGAGACTGTGGGGACTCCTGAGACCGTGGGGACAGCTGAGATT		HS3ST6	ENSG00000162040.7	transcript	ENST00000454677.3	protein_coding					1877		chr16	TogoVar
HS3ST6_chr16_1906475_1923415	1920291	C C	CAATCTCA others(623): Show CAATCTCAGCTGTCCCCACGGTCTCAGGAGTCCCCACAGTCTCAGCTATC CCCATGGTCTCAGCCATCCCCGTGGTCTCAGCAGTCCCCATGGTCTCAGG AGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCAGCAGTCCCCACGGTCT CAGCCGTCCCCACGGTCTCAGGAGTCCCCACGGACTCAGCCGTCCCCAGG GTCTCAGCCATCCCCAGGGTCTCAGCCGTCCCCACGGTCCCAGCCGTCCC CACCGTCTCAGCAGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCAGCAG TCCCCACGGTCTCAGGAGTCCCCACGGTCTCAGCAGTCCCCACGGTCTCA GCCGTCCCCACCGTCTCAGGAGTCCCCACCATCTCAGCCGTCCCCACGGT CTCAGGAGTCCCCATGGTCTCAACCGTCTCCACGGTCTCAGGAGTCCCCA CGGTCTCAGGAGCCCCCACGGTCTCAGGAGCCCCCACGGTCTCAGTCATC CCCACGGTCCCAGCCGTCCCCACGGTCCAAGCCGTCCCCACGGTCCCAGC CGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCCGCAGTCCCCACGGTCT CAGCCATCCCCACGGTCTCAGGAGTCCCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG03710.hp1 NA18955.hp2 others(4): Show HG00280.hp1 HG03710.hp1 NA18955.hp2 NA19010.hp2 NA19058.hp2 NA19063.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0007t0003 a0001c0001t0002 a0001c0007t0003	a0001c0001t0002g0086 a0001c0007t0003g0012 a0001c0007t0003g0087 a0001c0001t0002g0086 a0001c0007t0003g0012 a0001c0007t0003g0087	7	433	0.0162	630	c.-19 others(641): Show c.-1969_-1968insATGGGGACTCCTGAGACCGTGGGGATGGCTGAGA CCGTGGGGACTGCGGAGACCGTGGGGACGGCTGAGACCGTGGGGACGGCT GGGACCGTGGGGACGGCTTGGACCGTGGGGACGGCTGGGACCGTGGGGAT GACTGAGACCGTGGGGGCTCCTGAGACCGTGGGGGCTCCTGAGACCGTGG GGACTCCTGAGACCGTGGAGACGGTTGAGACCATGGGGACTCCTGAGACC GTGGGGACGGCTGAGATGGTGGGGACTCCTGAGACGGTGGGGACGGCTGA GACCGTGGGGACTGCTGAGACCGTGGGGACTCCTGAGACCGTGGGGACTG CTGAGACCGTGGGGACGGCTGAGACCGTGGGGACTGCTGAGACGGTGGGG ACGGCTGGGACCGTGGGGACGGCTGAGACCCTGGGGATGGCTGAGACCCT GGGGACGGCTGAGTCCGTGGGGACTCCTGAGACCGTGGGGACGGCTGAGA CCGTGGGGACTGCTGAGACCGTGGGGACGGCTGAGACCGTGGGGACTCCT GAGACCATGGGGACTGCTGAGACCACGGGGATGGCTGAGACCATGGGGAT AGCTGAGACTGTGGGGACTCCTGAGACCGTGGGGACAGCTGAGATT		HS3ST6	ENSG00000162040.7	transcript	ENST00000454677.3	protein_coding					1877		chr16	TogoVar
HS3ST6_chr16_1906475_1923415	1920291	C C	CAATCTCA others(623): Show CAATCTCAGCTGTCCCCACGGTCTCAGGAGTCCCCACAGTCTCAGCTATC CCCATGGTCTCAGCCATCCCCGTGGTCTCAGCAGTCCCCATGGTCTCAGG AGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCAGCAGTCCCCACGGTCT CAGCCGTCCCCACGGTCTCAGGAGTCCCCACGGACTCAGCCGTCCCCAGG GTCTCAGCCATCCCCAGGGTCTCAGCCGTCCCCACGGTCCCAGCCGTCCC CACCGTCTCAGCAGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCAGCAG TCCCCACGGTCTCAGGAGTCCCCACGGTCTCAGCAGTCCCCACGGTCTCA GCCGTCCCCACTGTCTCAGGAGTCCCCACCATCTCAGCCGTCCCCACGGT CTCAGGAGTCCCCATGGTCTCAACCGTCTCCACGGTCTCAGGAGTCCCCA CGGTCTCAGGAGCCCCCACGGTCTCAGGAGCCCCCACGGTCTCAGTCATC CCCACGGTCCCAGCCGTCCCCACGGTCCAAGCCGTCCCCACGGTCCCAGC CGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCCGCAGTCCCCACGGTCT CAGCCATCCCCACGGTCTCAGGAGTCCCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	433	0.0023	630	c.-19 others(641): Show c.-1969_-1968insATGGGGACTCCTGAGACCGTGGGGATGGCTGAGA CCGTGGGGACTGCGGAGACCGTGGGGACGGCTGAGACCGTGGGGACGGCT GGGACCGTGGGGACGGCTTGGACCGTGGGGACGGCTGGGACCGTGGGGAT GACTGAGACCGTGGGGGCTCCTGAGACCGTGGGGGCTCCTGAGACCGTGG GGACTCCTGAGACCGTGGAGACGGTTGAGACCATGGGGACTCCTGAGACC GTGGGGACGGCTGAGATGGTGGGGACTCCTGAGACAGTGGGGACGGCTGA GACCGTGGGGACTGCTGAGACCGTGGGGACTCCTGAGACCGTGGGGACTG CTGAGACCGTGGGGACGGCTGAGACCGTGGGGACTGCTGAGACGGTGGGG ACGGCTGGGACCGTGGGGACGGCTGAGACCCTGGGGATGGCTGAGACCCT GGGGACGGCTGAGTCCGTGGGGACTCCTGAGACCGTGGGGACGGCTGAGA CCGTGGGGACTGCTGAGACCGTGGGGACGGCTGAGACCGTGGGGACTCCT GAGACCATGGGGACTGCTGAGACCACGGGGATGGCTGAGACCATGGGGAT AGCTGAGACTGTGGGGACTCCTGAGACCGTGGGGACAGCTGAGATT		HS3ST6	ENSG00000162040.7	transcript	ENST00000454677.3	protein_coding					1877		chr16	TogoVar
HS3ST6_chr16_1906475_1923415	1920291	C C	CAATCTCA others(623): Show CAATCTCAGCTGTCCCCACGGTCTCAGGAGTCCCCACAGTCTCAGCTATC CCCATGGTCTCAGCCATCCCCGTGGTCTCAGCAGTCCCCATGGTCTCAGG AGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCAGCAGTCCCCACGGTCT CAGCCGTCCCCACGGTCTCAGGAGTCCCCACGGACTCAGCCGTCCCCAGG GTCTCAGCCATCCCCAGGGTCTCAGCCGTCCCCACGGTCCCAGCCGTCCC CACCGTCTCAGCAGTCCCCACGGTCTCAGCCGTCCCCATGGTCTCAGCAG TCCCCACGGTCTCAGGAGTCCCCACGGTCTCAGCAGTCCCCACGGTCTCA GCCGTCCCCACCGTCTCAGGAGTCCCCACCATCTCAGCCGTCCCCACGGT CTCAGGAGTCCCCATGGTCTCAACCGTCTCCACGGTATCAGGAGTCCCCA CGGTCTCAGGAGCCCCCACGGTCTCAGGAGCCCCCACGGTCTCAGTCATC CCCACGGTCCCAGCCGTCCCCACGGTCCAAGCCGTCCCCACGGTCCCAGC CGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCCGCAGTCCCCACGGTCT CAGCCATCCCCACGGTCTCAGGAGTCCCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0089 a0001c0023t0001g0089	1	433	0.0023	630	c.-19 others(641): Show c.-1969_-1968insATGGGGACTCCTGAGACCGTGGGGATGGCTGAGA CCGTGGGGACTGCGGAGACCGTGGGGACGGCTGAGACCGTGGGGACGGCT GGGACCGTGGGGACGGCTTGGACCGTGGGGACGGCTGGGACCGTGGGGAT GACTGAGACCGTGGGGGCTCCTGAGACCGTGGGGGCTCCTGAGACCGTGG GGACTCCTGATACCGTGGAGACGGTTGAGACCATGGGGACTCCTGAGACC GTGGGGACGGCTGAGATGGTGGGGACTCCTGAGACGGTGGGGACGGCTGA GACCGTGGGGACTGCTGAGACCGTGGGGACTCCTGAGACCGTGGGGACTG CTGAGACCATGGGGACGGCTGAGACCGTGGGGACTGCTGAGACGGTGGGG ACGGCTGGGACCGTGGGGACGGCTGAGACCCTGGGGATGGCTGAGACCCT GGGGACGGCTGAGTCCGTGGGGACTCCTGAGACCGTGGGGACGGCTGAGA CCGTGGGGACTGCTGAGACCGTGGGGACGGCTGAGACCGTGGGGACTCCT GAGACCATGGGGACTGCTGAGACCACGGGGATGGCTGAGACCATGGGGAT AGCTGAGACTGTGGGGACTCCTGAGACCGTGGGGACAGCTGAGATT		HS3ST6	ENSG00000162040.7	transcript	ENST00000454677.3	protein_coding					1877		chr16	TogoVar
HS3ST6_chr16_1906475_1923415	1920291	C C	CAATCTCA others(623): Show CAATCTCAGCTGTCCCCACGGTCTCAGGAGTCCCCACAGTCTCAGCTATC CCCATGGTCTCAGCCATCCCCGTGGTCTCAGCAGTCCCCATGGTCTCAGG AGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCAGCAGTCCCCACGGTCT CAGCCGTCCCCACGGTCTCAGGAGTCCCCACGGACTCAGCCGTCCCCAGG GTCTCAGCCATCCCCAGGGTCTCAGCCGTCCCCACGGTCCCAGCCGTCCC CACCGTCTCAGCAGTCCCCACGGTCTCAGCCGTCCCCATGGTCTCAGCAG TCCCCACGGTCTCAGGAGTCCCCACGGTCTCAGCAGTCCCCACGGTCTCA GCCGTCCCCACCGTCTCAGGAGTCCCCACCATCTCAGCCGTCCCCACGGT CTCAGGAGTCCCCATGGTCTCAACCGTCTCCACGGTCTCAGGAGTCCCCA CGGTCTCAGGAGCCCCCACGGTCTCAGGAGCCCCCACGGTCTCAGTCATC CCCACGGTCCCAGCCGTCCCCACGGTCCAAGCCGTCCCCACGGTCCCAGC CGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCCGCAGTCCCCACGGTCT CAGCCATCCCCACGGTCTCAGGAGTCCCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00544.hp1 others(105): Show HG00280.hp2 HG00408.hp2 HG00544.hp1 HG00639.hp1 HG00673.hp2 HG00733.hp2 HG01070.hp1 HG01081.hp2 HG01123.hp2 HG01192.hp2 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG02015.hp1 HG02071.hp1 HG02080.hp1 HG02257.hp2 HG02300.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp2 NA18970.hp2 NA18973.hp2 NA18975.hp2 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18990.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19054.hp1 NA19056.hp1 NA19063.hp2 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19074.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19083.hp2 NA19090.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0005 a0007 a0010 a0012 a0013	a0001c0001 a0003c0003 a0004c0006 others(5): Show a0001c0001 a0003c0003 a0004c0006 a0005c0005 a0007c0009 a0010c0013 a0012c0020 a0013c0021	a0001c0001t0001 a0003c0003t0001 a0004c0006t0001 others(5): Show a0001c0001t0001 a0003c0003t0001 a0004c0006t0001 a0005c0005t0001 a0007c0009t0001 a0010c0013t0001 a0012c0020t0001 a0013c0021t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 others(18): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 a0003c0003t0001g0081 a0004c0006t0001g0010 a0004c0006t0001g0049 a0004c0006t0001g0054 a0005c0005t0001g0011 a0007c0009t0001g0025 a0007c0009t0001g0051 a0010c0013t0001g0035 a0012c0020t0001g0038 a0013c0021t0001g0041	108	433	0.2494	630	c.-19 others(641): Show c.-1969_-1968insATGGGGACTCCTGAGACCGTGGGGATGGCTGAGA CCGTGGGGACTGCGGAGACCGTGGGGACGGCTGAGACCGTGGGGACGGCT GGGACCGTGGGGACGGCTTGGACCGTGGGGACGGCTGGGACCGTGGGGAT GACTGAGACCGTGGGGGCTCCTGAGACCGTGGGGGCTCCTGAGACCGTGG GGACTCCTGAGACCGTGGAGACGGTTGAGACCATGGGGACTCCTGAGACC GTGGGGACGGCTGAGATGGTGGGGACTCCTGAGACGGTGGGGACGGCTGA GACCGTGGGGACTGCTGAGACCGTGGGGACTCCTGAGACCGTGGGGACTG CTGAGACCATGGGGACGGCTGAGACCGTGGGGACTGCTGAGACGGTGGGG ACGGCTGGGACCGTGGGGACGGCTGAGACCCTGGGGATGGCTGAGACCCT GGGGACGGCTGAGTCCGTGGGGACTCCTGAGACCGTGGGGACGGCTGAGA CCGTGGGGACTGCTGAGACCGTGGGGACGGCTGAGACCGTGGGGACTCCT GAGACCATGGGGACTGCTGAGACCACGGGGATGGCTGAGACCATGGGGAT AGCTGAGACTGTGGGGACTCCTGAGACCGTGGGGACAGCTGAGATT		HS3ST6	ENSG00000162040.7	transcript	ENST00000454677.3	protein_coding					1877		chr16	TogoVar
HS3ST6_chr16_1906475_1923415	1920291	C C	CAATCTCA others(623): Show CAATCTCAGCTGTCCCCACGGTCTCAGGAGTCCCCACAGTCTCAGCTATC CCCATGGTCTCAGCCATCCCCGTGGTCTCAGCAGTCCCCTAATTTCTTTA AATTTGCCCCAAGTTTCTAATAGTATGTAGCATTATTCAAAGGCAGAAAA TGGCCGTCCCCACGGTCTCAGGAGTCCCCACGGACTCAGCCGTCCCCAGG GTCTCAGCCATCCCCAGGGTCTCAGCCGTCCCCACGGTCCCAGCCGTCCC CACCGTCTCAGCAGTCCCCACGGTCTCAGCCGTCCCCATGGTCTCAGCAG TCCCCACGGTCTCAGGAGTCCCCACGGTCTCAGCAGTCCCCACGGTCTCA GCCGTCCCCACCGTCTCAGGAGTCCCCACCATCTCAGCCGTCCCCACGGT CTCAGGAGTCCCCATGGTCTCAACCGTCTCCACGGTCTCAGGAGTCCCCA CGGTCTCAGGAGCCCCCACGGTCTCAGGAGCCCCCACGGTCTCAGTCATC CCCACGGTCCCAGCCGTCCCCACGGTCCAAGCCGTCCCCACGGTCCCAGC CGTCCCCACGGTCTCAGCCGTCCCCACGGTCTCCGCAGTCCCCACGGTCT CAGCCATCCCCACGGTCTCAGGAGTCCCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	433	0.0023	630	c.-19 others(641): Show c.-1969_-1968insATGGGGACTCCTGAGACCGTGGGGATGGCTGAGA CCGTGGGGACTGCGGAGACCGTGGGGACGGCTGAGACCGTGGGGACGGCT GGGACCGTGGGGACGGCTTGGACCGTGGGGACGGCTGGGACCGTGGGGAT GACTGAGACCGTGGGGGCTCCTGAGACCGTGGGGGCTCCTGAGACCGTGG GGACTCCTGAGACCGTGGAGACGGTTGAGACCATGGGGACTCCTGAGACC GTGGGGACGGCTGAGATGGTGGGGACTCCTGAGACGGTGGGGACGGCTGA GACCGTGGGGACTGCTGAGACCGTGGGGACTCCTGAGACCGTGGGGACTG CTGAGACCATGGGGACGGCTGAGACCGTGGGGACTGCTGAGACGGTGGGG ACGGCTGGGACCGTGGGGACGGCTGAGACCCTGGGGATGGCTGAGACCCT GGGGACGGCTGAGTCCGTGGGGACTCCTGAGACCGTGGGGACGGCCATTT TCTGCCTTTGAATAATGCTACATACTATTAGAAACTTGGGGCAAATTTAA AGAAATTAGGGGACTGCTGAGACCACGGGGATGGCTGAGACCATGGGGAT AGCTGAGACTGTGGGGACTCCTGAGACCGTGGGGACAGCTGAGATT		HS3ST6	ENSG00000162040.7	transcript	ENST00000454677.3	protein_coding					1877		chr16	TogoVar
IDE_chr10_92446684_92579093	92524517	A A	ATATATTA others(623): Show ATATATTATATTATATATAATATATTTTATATAATATATAATATATATTA TATTATATATAATATATTTTATATAATATATAATATATATTATATTATAT ATAATATATTTTATATAATATATAATATATATTATATTATATATAATATA TTTTATATAATATATAATATATATTATATTATATATAATATATTTTATAT AATATATAATATATATTATATTATATATAATATATTTTATATAATATATA ATATATATTATATTATATATAATATATTTTATATAATATATAATATATAT TATATTATATATAATATATTTTATATAATATATAATATATATTATATTAT ATATAATATATTTTATATAATATATAATATATATTATATTATATATAATA TATTTTATATAATATATAATATATATTATATTATATATAATATATTTTAT ATAATATATAATATATATTATATTATATATAATATATTTTATATAATATA TAATATATATTATATTATATATAATATATTTTATATAATATATAATATAT ATTATATTATATATATTATATATAAAATATAATATATATTATATTATATA TAATATATTTTATATAATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0256 a0001c0001t0013g0256	1	314	0.0032	630	c.661 others(647): Show c.661+7230_661+7231insATATATATTATATATTATATAAAATATA TTATATATAATATAATATATATTATATTTTATATATAATATATATAATAT AATATATATTATATATTATATAAAATATATTATATATAATATAATATATA TTATATATTATATAAAATATATTATATATAATATAATATATATTATATAT TATATAAAATATATTATATATAATATAATATATATTATATATTATATAAA ATATATTATATATAATATAATATATATTATATATTATATAAAATATATTA TATATAATATAATATATATTATATATTATATAAAATATATTATATATAAT ATAATATATATTATATATTATATAAAATATATTATATATAATATAATATA TATTATATATTATATAAAATATATTATATATAATATAATATATATTATAT ATTATATAAAATATATTATATATAATATAATATATATTATATATTATATA AAATATATTATATATAATATAATATATATTATATATTATATAAAATATAT TATATATAATATAATATATATTATATATTATATAAAATATATTATATATA ATATAATATATATTATATATTATATAAAATATATTATATATAATATAATA TA		IDE	ENSG00000119912.18	transcript	ENST00000265986.11	protein_coding	4/24						chr10	TogoVar
INPP5A_chr10_132532787_132788480	132775141	A A	AGAGGGGC others(623): Show AGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGA CAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAG GGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGA GGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGA GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGG GCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGA GGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAG ATGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGAAACG GGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGG AGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGACGG GCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGA GGAGGGGCAGGGAGGAGAGAGGGGCAGGGAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0065 a0002c0002t0005g0065	1	204	0.0049	630	c.978 others(647): Show c.978-2514_978-2513insGGGCAGGGAGGAGAGAGGGGCAGGGAGG AGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGGAGAGACA GGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGC AGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGG GAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGA AACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGC AGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGG GAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAG GAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAG AAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGG CAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAG GACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGC AGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGG AG		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(623): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCTCACAGCCACCCCCC CACAGCCACCCCCCTCCACAGCCACCCCCCCCACAGCCGCCCCCCACAGC CGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCCA CCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCC ACCCCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCGCCCCCCC ACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCC AAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCC CCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCAC CCCCCCACAGCCGCCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAG CCACCCCCCCACAGCCGCCCCCGCAGCCGCCCCCCCACAGCCACCCCCCC ACAGCCGCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	312	0.0032	630	c.-41 others(645): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCTCACAGCCACCCCC CCACAGCCACCCCCCTCCACAGCCACCCCCCCCACAGCCGCCCCCCACAG CCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCC ACCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGC CACCCCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCGCCCCCC CACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCC CAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCC CCCCACAGCCGCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCCA CCCCCCCACAGCCGCCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACA GCCACCCCCCCACAGCCGCCCCCGCAGCCGCCCCCCCACAGCCACCCCCC CACAGCCGCCCCCGCAGCTGCCCCCCACAGCTGCCCCCACAGCCGCCCCC		KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
KCP_chr7_128871865_128915709	128899829	A A	ACCTTAAG others(623): Show ACCTTAAGGAATCATGTAAGGAATCATGATTCCTTAAGGAATCATGTAAG GAATCATGATTCCTTAAGGAATCATGTAAGGAATCATGATTCCTTAAGGA ATCATGTAAGGAATCATGATTCCTTAAGGAATCATGTAAGGAATCATGAT TCCTTAAGGAATCATGTAAGGAATCATGATTCCTTAAGGAATCATGTAAG GAATCATGATTCCTTAAGGAATCATGTAAGGAATCATGATTCCTTAAGGA ATCATGTAAGGAATCATGATTCCTTAAGGAATCATGTAAGGAATCATGAT TCCTTAAGGAATCATGTAAGGAATCATGATTCCTTAAGGAATCATGTAAG GAATCATGATTCCTTAAGGAATCATGTAAGGAATCATGATTCCTTAAGGA ATCATGTAAGGAATCATGATTCCTTAAGGAATCATGTAAGGAATCATGAT TCCTTAAGGAATCATGTAAGGAATCATGATTCCTTAAGGAATCATGTAAG GAATCATGATTCCTTAAGGAATCATGTAAGGAATCATGATTCCTTAAGGA ATCATGTAAGGAATCATGATTCCTTAAGGAATCATGTAAGGAATCATGAT TCCTTAAGGAATCATGTAAGGAATCATGATT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp1 HG00099.hp1 HG00735.hp1	a0009 a0042 a0009 a0042	a0009c0027 a0042c0077 a0009c0027 a0042c0077	a0009c0027t0001 a0042c0077t0002 a0009c0027t0001 a0042c0077t0002	a0009c0027t0001g0286 a0042c0077t0002g0338 a0009c0027t0001g0286 a0042c0077t0002g0338	2	372	0.0054	630	c.831 others(647): Show c.831+2947_831+2948insAATCATGATTCCTTACATGATTCCTTAA GGAATCATGATTCCTTACATGATTCCTTAAGGAATCATGATTCCTTACAT GATTCCTTAAGGAATCATGATTCCTTACATGATTCCTTAAGGAATCATGA TTCCTTACATGATTCCTTAAGGAATCATGATTCCTTACATGATTCCTTAA GGAATCATGATTCCTTACATGATTCCTTAAGGAATCATGATTCCTTACAT GATTCCTTAAGGAATCATGATTCCTTACATGATTCCTTAAGGAATCATGA TTCCTTACATGATTCCTTAAGGAATCATGATTCCTTACATGATTCCTTAA GGAATCATGATTCCTTACATGATTCCTTAAGGAATCATGATTCCTTACAT GATTCCTTAAGGAATCATGATTCCTTACATGATTCCTTAAGGAATCATGA TTCCTTACATGATTCCTTAAGGAATCATGATTCCTTACATGATTCCTTAA GGAATCATGATTCCTTACATGATTCCTTAAGGAATCATGATTCCTTACAT GATTCCTTAAGGAATCATGATTCCTTACATGATTCCTTAAGGAATCATGA TTCCTTACATGATTCCTTAAGGAATCATGATTCCTTACATGATTCCTTAA GG		KCP	ENSG00000135253.16	transcript	ENST00000610776.5	protein_coding	8/39						chr7	TogoVar
KIF3B_chr20_32272651_32340011	32322672	T T	TTATATAT others(623): Show TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATTTATATATATAT TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0065 a0001c0002t0004g0065	1	242	0.0041	630	c.174 others(649): Show c.1749-4092_1749-4091insATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATTTATATATATAT TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATAT		KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr20	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATAT others(623): Show ATATATATTTTTATATATATTTATATATATTTTTATATATATTTATATAT ATTTATATATAGTTATATATATTTATGTATAGTTATATATATTTATGTAT AGTTATATATAGTTATGTATAGTTATATATATAGTTATGTATAGTTATAT ATATAGTTATATATATATATTTTTATATATATAGTTATATATATATATTT TTATATATATAGTTATATATATATATTTTTATATATATAGTTATATATAT ATATTTTTATATATATAGTTATATATATATATTTTTATATATATAGTTAT ATATATATATTTTTATATATATAGTTATATATATATATTTTTATATATAT AGTTATATATATATTTATATATATAGTTATATATTTATATATATTTATAT ATATTTATATATATATTTATATATTTATTTATATATATTTATATATGTAT TTATATATATTTATATATATTTATATGTATTTATATATATTTATATATAT TTATATATATATATAAATATATTTATATATATAAATATAAATATTTATAT ATATTTATATATATTTATATATATATTTATGTATATTTATATATATTTAT ATATATATTTATGTATATTTATATATGTATT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	260	0.0039	630	c.125 others(647): Show c.125+9673_125+9674insATATTTTTATATATATTTATATATATTT TTATATATATTTATATATATTTATATATAGTTATATATATTTATGTATAG TTATATATATTTATGTATAGTTATATATAGTTATGTATAGTTATATATAT AGTTATGTATAGTTATATATATAGTTATATATATATATTTTTATATATAT AGTTATATATATATATTTTTATATATATAGTTATATATATATATTTTTAT ATATATAGTTATATATATATATTTTTATATATATAGTTATATATATATAT TTTTATATATATAGTTATATATATATATTTTTATATATATAGTTATATAT ATATATTTTTATATATATAGTTATATATATATTTATATATATAGTTATAT ATTTATATATATTTATATATATTTATATATATATTTATATATTTATTTAT ATATATTTATATATGTATTTATATATATTTATATATATTTATATGTATTT ATATATATTTATATATATTTATATATATATATAAATATATTTATATATAT AAATATAAATATTTATATATATTTATATATATTTATATATATATTTATGT ATATTTATATATATTTATATATATATTTATGTATATTTATATATGTATTT AT		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	858998	A A	ACGGGACG others(623): Show ACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGCAGTGTTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGAC GGGTGTGAGTGGTGTCAGGGGACGGGTGTGCAGTGGTGTCTCGGGACGGG TGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGT GCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCA GTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCAGTG GTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTG TCTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCA CGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGG ATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGAT GGGTGTGAGTGGTGTCACGGGATGGGTGTGCAGTGATGTCACGGGATGGG TGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTG AGTGGTGTCACGGGATGGGTGTGTGGTGTCT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0014 a0001c0013t0014	a0001c0013t0014g0022 a0001c0013t0014g0022	1	294	0.0034	630	c.153 others(649): Show c.1530-4293_1530-4292insAGACACCACACACCCATCCCGTGACA CCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGTGACACCAC TCACACCCATCCCGTGACATCACTGCACACCCATCCCGTGACACCACTCA CACCCATCCCGAGACACCACTGCACACCCATCCCGAGACACCACTGCACA CCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCA TCCCGTGACACCACTCACACCCATCCCGAGACACCACTGCACACCCATCC CGAGACACCACTCACACCCATCCCGAGACACCACTGCACACCCGTCCCGA GACACCACTGCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGAC ACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACC ACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCAC TCACACCCGTCCCGAGACACCACTGCACACCCGTCCCCTGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACAACACTGCACAC CCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGT CCCG		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LRRC14_chr8_144512992_144530172	144513800	T T	TGAGGAGG others(623): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCAGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAG TGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGG CGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAG TGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGTAGGGGTCGGCGTGGGCGGTGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0018 a0001c0001t0044g0018	1	414	0.0024	630	c.-43 others(641): Show c.-4353_-4352insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCAGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC CTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGG AGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGC CTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGTAGGGGTCGGCGTGGGCGGTGGGGAGA		LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding					4191		chr8	TogoVar
LY75_chr2_159798355_159909756	159874319	G G	GTTTTGTA others(623): Show GTTTTGTAAATATATATAAATATATATATGTTTTGTAAATATATATAAAT ATATATATGTTTTGTAAATATATATAAATATATATGTTTTGTAAATATAT ATAAATATATGTTTTGTAAATATATATAAATATATATGTTTTGTAAATAT ATATAAATATATATATGTTTTGTAAATATATAAATATATATTTTGTAAAT ATATATATATTTTGTAAATATATATATATTTTGTAAATATATATATATTT TGTAAATATATATTGTAAATATATATAAATATATATTTTGTGAATTATAT ATATATTGTAAATTATATATATATTTTGTAAATATATATAGTAAATACAT ATATTTTGTAAATATGTATATATATTTTGTAAATATATATATTTTGTAAA TATGTATATATATTTTGTAAATATATACATTTTGTAAATATATAAATATA TACATTTTGTAAATATATAAAAATATATACATTTTGTAAATATATAAAAA TATATGTTGTAAATATATAAAAATATATATATTTTGTAAATATATAAATA TATATATTTTGTAAATATATATATATTTTGTAAATATATATAAATATATA CATATTTTGTAAATATATAAATATATACATA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA19010.hp2 NA19054.hp1 NA18966.hp1 NA19010.hp2 NA19054.hp1	a0015 a0015	a0015c0017 a0015c0017	a0015c0017t0001 a0015c0017t0001	a0015c0017t0001g0012 a0015c0017t0001g0013 a0015c0017t0001g0018 a0015c0017t0001g0012 a0015c0017t0001g0013 a0015c0017t0001g0018	3	330	0.0091	630	c.197 others(649): Show c.1974+1124_1974+1125insTATGTATATATTTATATATTTACAAA ATATGTATATATTTATATATATTTACAAAATATATATATATTTACAAAAT ATATATATTTATATATTTACAAAATATATATATTTTTATATATTTACAAC ATATATTTTTATATATTTACAAAATGTATATATTTTTATATATTTACAAA ATGTATATATTTATATATTTACAAAATGTATATATTTACAAAATATATAT ACATATTTACAAAATATATATATTTACAAAATATATATACATATTTACAA AATATATGTATTTACTATATATATTTACAAAATATATATATAATTTACAA TATATATATAATTCACAAAATATATATTTATATATATTTACAATATATAT TTACAAAATATATATATATTTACAAAATATATATATATTTACAAAATATA TATATATTTACAAAATATATATTTATATATTTACAAAACATATATATATT TATATATATTTACAAAACATATATATTTATATATATTTACAAAACATATA TTTATATATATTTACAAAACATATATATTTATATATATTTACAAAACATA TATATATTTATATATATTTACAAAACATATATATATTTATATATATTTAC AAAA		LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34						chr2	TogoVar
LY75_chr2_159798355_159909756	159874319	G G	GTTTTGTA others(623): Show GTTTTGTAAATATATATAAATATATATATGTTTTGTAAATATATATAAAT ATATATATGTTTTGTAAATATATATAAATATATATGTTTTGTAAATATAT ATAAATATATGTTTTGTAAATATATATAAATATATATGTTTTGTAAATAT ATATAAATATATATATGTTTTGTAAATATATAAATATATATTTTGTAAAT ATATATATATTTTGTAAATATATATATATTTTGTAAATATATATATATTT TGTAAATATATATTGTAAATATATATAAATATATATTTTGTGAATTATAT ATATATTGTAAATTATATATATATTTTGTAAATATATATAGTAAATATAT ATATTTTGTAAATATGTATATATATTTTGTAAATATATATATTTTGTAAA TATGTATATATATTTTGTAAATATATACATTTTGTAAATATATAAATATA TACATTTTGTAAATATATAAAAATATATACATTTTGTAAATATATAAAAA TATATGTTGTAAATATATAAAAATATATATATTTTGTAAATATATAAATA TATATATTTTGTAAATATATATATATTTTGTAAATATATATAAATATATA CATATTTTGTAAATATATAAATATATACATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00609.hp2 HG00738.hp2 others(35): Show HG00099.hp1 HG00609.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01123.hp1 HG01192.hp1 HG01496.hp1 HG01943.hp2 HG01993.hp2 HG02004.hp1 HG02135.hp1 HG02145.hp1 HG02273.hp1 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02922.hp1 HG03139.hp2 HG03491.hp1 HG03688.hp2 HG03927.hp2 NA18939.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18950.hp2 NA18954.hp2 NA18959.hp1 NA18960.hp1 NA18968.hp2 NA18969.hp2 NA18979.hp2 NA19000.hp1 NA19000.hp2 NA19009.hp2 NA19091.hp2 NA20752.hp1	a0001 a0003 a0008 others(7): Show a0001 a0003 a0008 a0010 a0015 a0016 a0024 a0032 a0044 a0047	a0001c0003 a0001c0015 a0003c0065 others(9): Show a0001c0003 a0001c0015 a0003c0065 a0008c0009 a0010c0057 a0015c0017 a0016c0027 a0016c0028 a0024c0058 a0032c0034 a0044c0059 a0047c0055	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(12): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0015t0002 a0003c0065t0003 a0008c0009t0002 a0010c0057t0002 a0015c0017t0003 a0016c0027t0001 a0016c0028t0001 a0016c0028t0006 a0024c0058t0001 a0032c0034t0002 a0044c0059t0001 a0047c0055t0003	a0001c0003t0001g0246 a0001c0003t0001g0252 a0001c0003t0001g0266 others(35): Show a0001c0003t0001g0246 a0001c0003t0001g0252 a0001c0003t0001g0266 a0001c0003t0001g0269 a0001c0003t0001g0284 a0001c0003t0001g0298 a0001c0003t0001g0301 a0001c0003t0002g0270 a0001c0003t0003g0247 a0001c0003t0003g0251 a0001c0003t0003g0264 a0001c0003t0003g0265 a0001c0003t0003g0304 a0001c0003t0003g0305 a0001c0015t0002g0278 a0001c0015t0002g0282 a0001c0015t0002g0288 a0001c0015t0002g0293 a0001c0015t0002g0297 a0001c0015t0002g0300 a0003c0065t0003g0044 a0008c0009t0002g0279 a0008c0009t0002g0289 a0008c0009t0002g0290 a0008c0009t0002g0291 a0008c0009t0002g0292 a0008c0009t0002g0303 a0008c0009t0002g0318 a0010c0057t0002g0250 a0015c0017t0003g0014 a0016c0027t0001g0280 a0016c0027t0001g0281 a0016c0028t0001g0287 a0016c0028t0006g0286 a0024c0058t0001g0263 a0032c0034t0002g0028 a0044c0059t0001g0267 a0047c0055t0003g0275	38	330	0.1152	630	c.197 others(649): Show c.1974+1124_1974+1125insTATGTATATATTTATATATTTACAAA ATATGTATATATTTATATATATTTACAAAATATATATATATTTACAAAAT ATATATATTTATATATTTACAAAATATATATATTTTTATATATTTACAAC ATATATTTTTATATATTTACAAAATGTATATATTTTTATATATTTACAAA ATGTATATATTTATATATTTACAAAATGTATATATTTACAAAATATATAT ACATATTTACAAAATATATATATTTACAAAATATATATACATATTTACAA AATATATATATTTACTATATATATTTACAAAATATATATATAATTTACAA TATATATATAATTCACAAAATATATATTTATATATATTTACAATATATAT TTACAAAATATATATATATTTACAAAATATATATATATTTACAAAATATA TATATATTTACAAAATATATATTTATATATTTACAAAACATATATATATT TATATATATTTACAAAACATATATATTTATATATATTTACAAAACATATA TTTATATATATTTACAAAACATATATATTTATATATATTTACAAAACATA TATATATTTATATATATTTACAAAACATATATATATTTATATATATTTAC AAAA		LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34						chr2	TogoVar
LYRM9_chr17_27873358_27898365	27887133	G G	GGAAGGTG others(623): Show GGAAGGTGGTTTTATCCCAAGAAACGTGGTATGGTATGCCAATCCAGCCA TAAGGTCAGGAGAGAATTTTTGATCTGCAGTCCACACAGGTTCCTTCTCC TTTTTCTCCTTTTCATCTCTTTTTCTTCTTTTCTCTTTCTCATTCAATCT TTAACTTGTCTAGTCTTCATTTATCATATTTTAAATTAGTGAAAACTCTT TCAGCTTAGATAAGCCTTATTTTATTTGTCCTCAGCACATTGTTGGTAGG ATTTGAGAAGTGAAAACTCCTTTTTAAAGGTGCTTGAGATAAAAATGTTA AGGCCGGGCCAGGTGACTCATGCCTGTAATCCCAGCACTTTGGGAGGCCG AAGCAGGAGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATA GGAAACCCTGTCTCTACTAAAAATACAAAAGTTAGCCGGGTATGGTGACT CGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACAGGCGAATCACTTG AACCCGGGAGGTGGAGATTGCGTGAGCAGAGATCGCACCACTGCGCTCCA GCTTGGGCAAGAGAGTAAGACTTTGTCTCAAAAAAAAAAAAAAAAATCTT CAGGTAGCAAAATTCTGAGGTCTGCCATTCA	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18947.hp2 NA18957.hp1 others(7): Show HG02083.hp2 NA18947.hp2 NA18957.hp1 NA18966.hp1 NA18967.hp2 NA18986.hp1 NA18998.hp1 NA19001.hp2 NA19007.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0035 a0001c0001t0001g0135 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0035 a0001c0001t0001g0135 a0001c0001t0001g0144 a0001c0001t0001g0145	10	394	0.0254	630	c.-18 others(647): Show c.-18-4422_-18-4421insTGAATGGCAGACCTCAGAATTTTGCTAC CTGAAGATTTTTTTTTTTTTTTTTGAGACAAAGTCTTACTCTCTTGCCCA AGCTGGAGCGCAGTGGTGCGATCTCTGCTCACGCAATCTCCACCTCCCGG GTTCAAGTGATTCGCCTGTCTCAGCCTCCCGAGTAGCTGGGACTACAGGC ACGAGTCACCATACCCGGCTAACTTTTGTATTTTTAGTAGAGACAGGGTT TCCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCTCCTG CTTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCTGGCCCGG CCTTAACATTTTTATCTCAAGCACCTTTAAAAAGGAGTTTTCACTTCTCA AATCCTACCAACAATGTGCTGAGGACAAATAAAATAAGGCTTATCTAAGC TGAAAGAGTTTTCACTAATTTAAAATATGATAAATGAAGACTAGACAAGT TAAAGATTGAATGAGAAAGAGAAAAGAAGAAAAAGAGATGAAAAGGAGAA AAAGGAGAAGGAACCTGTGTGGACTGCAGATCAAAAATTCTCTCCTGACC TTATGGCTGGATTGGCATACCATACCACGTTTCTTGGGATAAAACCACCT TC		LYRM9	ENSG00000232859.10	transcript	ENST00000379102.8	protein_coding	1/3						chr17	TogoVar
MAGEC1_chrX_141898894_141914374	141905995	A A	ACTCCAGA others(623): Show ACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATTT TCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGCACAG TCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAG TCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTC CCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTA TTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGG TTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCA CTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTT GAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTC CTCCACTTTAGTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTA CTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCC TCCTCCTCCACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCA GAGTACTTTTGAGGGTTTTGCCCAGTCTTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02559.hp2 HG03225.hp1 NA19043.hp1 HG02559.hp2 HG03225.hp1 NA19043.hp1	a0027 a0027	a0027c0030 a0027c0030	a0027c0030t0001 a0027c0030t0001	a0027c0030t0001g0002 a0027c0030t0001g0002	3	359	0.0084	630	c.661 others(637): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTC CACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTATT TTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCA GTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGA GTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTT GCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTT AGTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGG GTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCCTCCTCC ACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTT TGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCGCTCCTTCT CCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAA	p.Arg others(643): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArgThrGlnSerThrPheGluGlyPhePro GlnSerProLeuGlnIleProValSerArgSerPheSerSerThrLeuLe uSerIlePheGlnSerSerProGluArgThrGlnSerThrPheGluGlyP heAlaGlnSerProLeuGlnIleProValSerProSerSerSerSerThr LeuLeuSerLeuPheGlnSerPheSerGluArgThrGlnSerThrPheGl uGlyPheAlaGlnSerSerLeuGlnIleProValSerProSerPheSerS erThrLeuValSerIlePheGlnSerSerProGluArgThrGlnSerThr PheGluGlyPheProGlnSerProLeuGlnIleProValSerSerSerSe rSerSerThrLeuLeuSerLeuPheGlnSerSerProGluArgThrGlnS erThrPheGluGlyPheAlaGlnSerSerLeuGlnIleProValSerArg SerPheSerSerThrLeuLeuSerIlePheGlnSerSerProGluArg	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	948/4256	662/3429	221/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MEGF6_chr1_3482951_3616508	3583360	G G	GCAGCCAC others(623): Show GCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACA ACCCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCC ACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGA CAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAG CCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCC GCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCA GACAACCCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCCACAGCC ACCAGACAACCCACAGCCACCAGACAACGCA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0023 a0004c0004t0002g0023	1	292	0.0034	630	c.377 others(647): Show c.377-3432_377-3431insTGCGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTG GCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCG GGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583450	G G	GCAGCCAC others(623): Show GCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGC AGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCACAGCCACCAGA CAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAG CCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCC GCAGCCACCAGACAACCCGCAGCCACCAGACAACCCGCAGCCACCAGACA ACGCACAGCCACCAGACAACGCACAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACCCA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	292	0.0034	630	c.377 others(647): Show c.377-3522_377-3521insTGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTG CGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGC TGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTG GCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGC TG		MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36						chr1	TogoVar
MFSD3_chr8_144504070_144516213	144513800	T T	TGAGGAGG others(623): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCAGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAG TGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGG CGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAG TGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGTAGGGGTCGGCGTGGGCGGTGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0002 a0007c0010t0001g0002	1	400	0.0025	630	c.26 others(641): Show c.2636_*2637insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCAGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC CTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGG AGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGC CTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGTAGGGGTCGGCGTGGGCGGTGGGGAGA		MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding					2588		chr8	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(623): Show GCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCCCCCTCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCTCCTCCTCCCC TCCCCCCTCCCCTCCCCCCTCCGCCCTTCCCTCCCCCCTCCCCTCCCCCC TCACCCCTTCCCCTCCCCTCCACCCTCCCCCTCTCCTCCCCTCCCTTCCC CTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCGCCTCCCCTT CCCCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTTCCCCCTCC CCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCC CTCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCC CTCCCTTTCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCC CTTCTCCTCCCCTCCCCCCTCCTCCCCCTCCCTTCCCCTCTGCTTGCCCC TTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACC TCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTC CCCCTCCCCTCCCCACCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA18522.hp1 HG02615.hp2 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0028 a0002c0002 a0002c0028	a0002c0002t0004 a0002c0028t0004 a0002c0002t0004 a0002c0028t0004	a0002c0002t0004g0241 a0002c0028t0004g0062 a0002c0002t0004g0241 a0002c0028t0004g0062	2	278	0.0072	630	c.115 others(647): Show c.1157+156_1157+157insCCTCCCCTCCCTCCCCCTCCCCCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCTCCTCCTC CCCTCCCCCCTCCCCTCCCCCCTCCGCCCTTCCCTCCCCCCTCCCCTCCC CCCTCACCCCTTCCCCTCCCCTCCACCCTCCCCCTCTCCTCCCCTCCCTT CCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCGCCTCCC CTTCCCCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTTCCCCC TCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCT CCCCTCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCT CCCCTCCCTTTCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCC TCCCTTCTCCTCCCCTCCCCCCTCCTCCCCCTCCCTTCCCCTCTGCTTGC CCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCC ACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCC CTCCCCCTCCCCTCCCCACCCCTCCCCTCCCCACCCCTCCCCTCCCCTCC CC		MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr17	TogoVar
MICAL3_chr22_17782649_18029561	17876950	G G	GGTTAGGG others(623): Show GGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTA TGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAG GTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAG GGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGG TTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGG GAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGCAGT TATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGG AGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAGGGAGGTT ATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTAGGGAGGTTAGGGA GGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTA GGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAG GTTATGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTAG GGAGGTTAGGGAAGTTATGGAGGTTATGGCA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0240 a0002c0003t0004g0240	1	274	0.0037	630	c.224 others(649): Show c.2242-4928_2242-4927insTGCCATAACCTCCATAACTTCCCTAA CCTCCCTAACCTCCCTAACCTCCATAACCTCCATAACCTCCCTAACCTCC ATAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAAC CTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACTTCCC TAACCTCCCTAACCTCCCTAACCTCCCTCACCTCCATAACCTCCCTAACC TCCATAACCTCCCTCACCTCCATAACCTCCATAACTTCCCTAACCTCCAT AACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACCTCCCTCACCT CCATAACTGCCATAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTA ACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTC CATAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCATAA CCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCC ATAACCTCCATAACCTCCCTCACCTCCATAACCTCCATAACTTCCCTAAC CTCCATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCC TAAC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877261	G G	GGGAGGTT others(623): Show GGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAG GTTATGGAGGTTAGGGAGGTTAGGGAGATTAGGGAGCTTATGGAGGTTAG GGAGGTTATGGAGGTTAGGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGG TTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGG GAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGT TATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGG AGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTT AGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGA GGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTA GGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAG GTTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGCTTAT GGAGGTTAGAGAAGTTATGGAGGTTAGGGAGGTTATGAAGGTTAGGGAGG TTACGGAGGTTATGGAGGTTAGGGAAGTTAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0179 a0001c0002t0001g0179	1	274	0.0037	630	c.224 others(649): Show c.2242-5239_2242-5238insATAACTTCCCTAACCTCCATAACCTC CGTAACCTCCCTAACCTTCATAACCTCCCTAACCTCCATAACTTCTCTAA CCTCCATAAGCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCC ATAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAAC CTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCA TAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACC TCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCAT AACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAACCT CCATAACCTCCATAACTTCCCTAACCTCCATAACCTCCATAACTTCCCTA ACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTC CATAACCTCCCTAACCTCCATAAGCTCCCTAACCTCCCTAACCTCCATAA CCTCCCTAACCTCCATAAGCTCCCTAATCTCCCTAACCTCCCTAACCTCC ATAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAAC CTCC		MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31						chr22	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(623): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAA GGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGG GAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCAGGGGGAAGGGGGAAAGGG GTGGGGGGAAAGGGGGAAGGGGAAAGGGGTGAGGGGAAAGGGGGAAGGGG GAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGGAGGG GAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGAG GGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGGGGGAAGGGAGGGGGGAGGGGAGGGGGAGGGAAGA GGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGGGAGGGAAGG GAGGGAGGGGAGGGGGAGGGAGGGGAGGGAGGGGAGGGGGAGGGAGGGGA GGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAG GGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGA GGGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0007 a0003c0003t0007g0007	1	272	0.0037	630	c.250 others(645): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCCTCCCTCCCCCTCCCCTCCCT CCCTTCCCTCCCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCC CTCTTCCCTCCCCCTCCCCTCCCCCCTCCCTTCCCCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCACCCCTTT CCCCCTTCCCCCTTTCCCCTCACCCCTTTCCCCTTCCCCCTTTCCCCCCA CCCCTTTCCCCCTTCCCCCTGCCCCTTTTCCCCCCTTCCCCGCCCCTTTT CCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTC CTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCT		MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10						chr6	TogoVar
MTTP_chr4_99569824_99628997	99588981	A A	ATATATAT others(623): Show ATATATATATGTTCATATATATTCATATATATGTTCATATATATATTCAT ATATATGTTCATATATATTCATATATATGTTCATATATATTCATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATGTTCATATATATATTCATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATGTTCATATAT ATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATAT ATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCAT ATATATATGTTCATATATATATGTTCATATATATGTTCATATATATATGT TCATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	364	0.0028	630	c.394 others(645): Show c.394-662_394-661insTATATATATGTTCATATATATTCATATATA TGTTCATATATATATTCATATATATGTTCATATATATTCATATATATGTT CATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCA TATATATATTCATATATATATGTTCATATATATATTCATATATATGTTCA TATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCA TATATATATTCATATATATATGTTCATATATATATTCATATATATATGTT CATATATATGTTCATATATATATGTTCATATATATGTTCATATATATATG TTCATATATATGTTCATATATATATGTTCATATATATGTTCATATATATA TGTTCATATATATGTTCATATATATATGTTCATATATATATGTTCATATA TATGTTCATATATATATGTTCATATATATGTTCATATATATATTCATATA TATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATA TATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCA TATATATATGTTCATATATATATTCATATATATATGTTCATATATATATT		MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17						chr4	TogoVar
MUC4_chr3_195741771_195816929	195775382	G G	GTACCTTC others(623): Show GTACCTTCCACGGCCATACCTTCCACACCCATACCTTCCACAGTCATACC TTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCA CACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACGGCC ATACCTTCCACAGTCATACCTTCCACGGCCATACCTTCCACGGCCATACC TTCCACAGTCATACCTTCCACGGCCATACCTTCCACACCCATACCTTCCA CACCCATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACCC ATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATACC TTCCACACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCA CACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTC ATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACC TTCCACACCCATACCTTCCACGGCCATACCTTCCACAGTCATACCTTCCA CACCCATACCTTCCACGGCCATACCTTCCACAGTCATACCTTCCACGGCC ATACCTTCCACACCCATACCTTCCACACCCA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0050 a0050	a0050c0147 a0050c0147	a0050c0147t0004 a0050c0147t0004	a0050c0147t0004g0231 a0050c0147t0004g0231	1	249	0.0040	630	c.129 others(651): Show c.12944-1078_12944-1077insTGGGTGTGGAAGGTATGGGTGTGG AAGGTATGGCCGTGGAAGGTATGACTGTGGAAGGTATGGCCGTGGAAGGT ATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGCCGTGGAAGGTATGGG TGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGG AAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGT ATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGG TGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGG AAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGT ATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGCCGTGGAAGGTATGAC TGTGGAAGGTATGGCCGTGGAAGGTATGGCCGTGGAAGGTATGACTGTGG AAGGTATGGCCGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGT ATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGGG TGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGGCCGTGG AAGGTA		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(623): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTCAAAATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATGTATA TAAATATATATATTTCAATATAAGTATGTATATAAATATACATATTTCAA TATAAGTATGTATATAAATATACATATTTCAATATAAGTATATAAAAATA TATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAG TATATATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATA TATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATG TATAAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAA TATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAA TATATATATTTAAATATAAGTATGTATAAAAATATATATATTTAAATATA AGTATGTATAAAAATATATATATTTAAATATAAGTATATATAAAAATATA TATATTTAAATATAAGTATATATATAAAAAT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18959.hp1 NA19010.hp1 others(1): Show NA18950.hp2 NA18959.hp1 NA19010.hp1 NA19068.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0004 a0003c0003t0014 a0003c0003t0001 a0003c0003t0004 a0003c0003t0014	a0003c0003t0001g0079 a0003c0003t0001g0080 a0003c0003t0004g0083 others(1): Show a0003c0003t0001g0079 a0003c0003t0001g0080 a0003c0003t0004g0083 a0003c0003t0014g0078	4	326	0.0123	630	c.358 others(647): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTCAAAATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAAT ATACATATTTCAATATAAGTATGTATATAAATATACATATTTCAATATAA GTATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATAT ATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATGT ATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTT CAATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAAT ATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAA GTATGTATAAAAATATATATATTTAAATATAAGTATGTATAAAAATATAT ATATTTAAATATAAGTATGTATAAAAATATATATATTTAAATATAAGTAT ATATAAAAATATATATATTTAAATATAAGTATATATATAAAAATATATAT AT		MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(623): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTCAAAATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATGTATA TAAATATATATATTTCAATATAAGTATGTATATAAATATACATATTTCAA TATAAGTATGTATATAAATATACATATTTCAATATAAGTATATAAAAATA TATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAG TATATATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATA TATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATG TATAAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAA TATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAA TATATATATTTAAATATAAGTATGTATAAAAATATATATATTTAAATATA AGTATGTATAAAAATATATATATTTAAATATAAGTATGTATAAAAATATA TATATTTAAATATAAGTATATATATAAAAAT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0081 a0003c0003t0001g0081	1	326	0.0031	630	c.358 others(647): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTCAAAATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAAT ATACATATTTCAATATAAGTATGTATATAAATATACATATTTCAATATAA GTATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATAT ATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATGT ATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTT CAATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAAT ATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAA GTATGTATAAAAATATATATATTTAAATATAAGTATGTATAAAAATATAT ATATTTAAATATAAGTATGTATAAAAATATATATATTTAAATATAAGTAT GTATAAAAATATATATATTTAAATATAAGTATATATATAAAAATATATAT AT		MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr9	TogoVar
MYT1L_chr2_1784113_2336275	1952717	T T	TCCTTCCT others(623): Show TCCTTCCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCT TCTCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCT CTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTT CCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCC TCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCC CTCCCTCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTC CCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCCCC CTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCCCCCTT CCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCCCCCTTCCT CCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCCCCCTTCCTCCC TCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCTTCCTCCCTCTCTCC CTCCCTCCTTCTCTTCCCTCCCTCCCTTTCTTTCCTTCCCTCCTTCCTTT CCTTCCCTTCTTTCCCTCCTTCCTTCCTTTC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	104	0.0096	630	c.153 others(647): Show c.153-9384_153-9383insGAAAGGAAGGAAGGAGGGAAAGAAGGGA AGGAAAGGAAGGAGGGAAGGAAAGAAAGGGAGGGAGGGAAGAGAAGGAGG GAGGGAGAGAGGGAGGAAGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAG AGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGA GGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGG AGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGG AAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAG GGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGAGG GAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGAG GGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGAGGGA GGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGAGGGAGGG AAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAG AGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGGAA GG		MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	8/24						chr2	TogoVar
NCAPG2_chr7_158626169_158709804	158655677	T T	TTGCCCTG others(623): Show TTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCC CCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCC TCATGACCAGGCCCCATCCTCCCCATGTGCCCTGCACGCAGCACCACCCG TCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCCCCATCTGCCCTGCAC GCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCCCCATCCTCCCC ATGTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGG CCCCATCCTCCCCATGTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTG CCTCATGACCAGGCCCCATCCTCCCCATGTGCCCTGCACGCAGCACCACC CGTCCCCTCCCTGCCTCATGACCAGGCCCCATCCTCCCCATGTGCCCTGC ACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCC CCATGTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCA GGCCCCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCC TGCCTCATGACCAGGCCCCGTCCTCCCCATG	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	378	0.0027	630	c.238 others(647): Show c.2389-223_2389-222insCATGGGGAGGACGGGGCCTGGTCATGAG GCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGACGGG GCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCACA TGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTG CGTGCAGGGCACATGGGGAGGATGGGGCCTGGTCATGAGGCAGGGAGGGG ACGGGTGGTGCTGCGTGCAGGGCACATGGGGAGGATGGGGCCTGGTCATG AGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCACATGGGGAGGATG GGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCA CATGGGGAGGATGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGC TGCGTGCAGGGCAGATGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGG GGACGGGTGGTGCTGCGTGCAGGGCACATGGGGAGGATGGGGCCTGGTCA TGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGA CGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGG CA		NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	19/27						chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158655677	T T	TTGCCCTG others(623): Show TTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCC CCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCC TCATGACCAGGCCCCGTCCTCCCCATGTGCCCTGCACGCAGCACCACCCG TCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCCCCATGTGCCCTGCAC GCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCCCCATCCTCCCC ATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGG CCCCGTCCTCCCCATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTG CCTCATGACCAGGCCCCGTCCTCCCCATGTGCCCTGCACGCAGCACCACC CGTCCCCTCCCTGCCTCATGACCAGGCCCCATCCTCCCCATCTGCCCTGC ACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCAGGCCCCGTCCTCC CCATCTGCCCTGCACGCAGCACCACCCGTCCCCTCCCTGCCTCATGACCA GGCCCCGTCCTCCCCATGTGCCCTGCACGCAGCACCACCCGTCCCCTCCC TGCCTCATGACCAGGCCCCGTCCTCCCCATG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0359 a0001c0001t0001g0359	1	378	0.0027	630	c.238 others(647): Show c.2389-223_2389-222insCATGGGGAGGACGGGGCCTGGTCATGAG GCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCACATGGGGAGGACGGG GCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGA TGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTG CGTGCAGGGCAGATGGGGAGGATGGGGCCTGGTCATGAGGCAGGGAGGGG ACGGGTGGTGCTGCGTGCAGGGCACATGGGGAGGACGGGGCCTGGTCATG AGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGACG GGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCA GATGGGGAGGATGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGC TGCGTGCAGGGCACATGGGGAGGACGGGGCCTGGTCATGAGGCAGGGAGG GGACGGGTGGTGCTGCGTGCAGGGCACATGGGGAGGACGGGGCCTGGTCA TGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGGCAGATGGGGAGGA CGGGGCCTGGTCATGAGGCAGGGAGGGGACGGGTGGTGCTGCGTGCAGGG CA		NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	19/27						chr7	TogoVar
NEU4_chr2_241804193_241822413	241819462	C C	CTCATGTG others(623): Show CTCATGTGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGTCGTGCTGCTGGG CTGCATTCCTGCTCCTCGTGCCCGTGTGTCTGGCTCGTGTGCGTGTGTCA GGTCCGTCAGTGTGGGTGCATCCTGTCATGCTGTGTGTCTGTGCGTGGCG TGTAGGTCCGTGTGCTGGGTGCATCCTGTCATGCGTGTGTCTCGGCTCTG GTGTGTGTGTAGGTCGTGTGCTGGGTGCATCCTGTCATGCGTGTGTCCTG CTCTGTGGTGTGTAGGCTCGTGTGCTGGTGTCAGTCTGCTGTGTGTCTGC TCGTGGTCAGGCGTGTGTCAGGTCGTTGCTGGGTGCTGTCCTGTCATGCG TGTGTGCCTGCCTCTCTGGCTGTGTGTCGTAGTTGTGTGCTGGGTGCATC CTCTTGCATGTGTCGTGGCTCATGGCCCGTGTGTAGGTCGTGTGCTGGGT GCATCCTGTCATGCGTGTGTCCTGCTGTGGTGTGTGTGTAGGTTGTGTGC TGGGTGCATCCTCTCATGCGTGTGTCCTGGCTCGTGGCCCGTGTGTAGGT GTGTGCTGGGTGCATCTGTCATGCGTGTGTCATGCGTGTGTCTGCTCGTG CGTGTAGTGTGTGTGTGCTGGGTGCATCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0000 a0000	a0000c0011 a0000c0011	a0000c0011t0009 a0000c0011t0009	a0000c0011t0009g0010 a0000c0011t0009g0010	1	319	0.0031	630	c.24 others(641): Show c.2414_*2415insTCATGTGTGTGTCCTGGCTCGTGGCCCGTGTGTA GGTCGTGCTGCTGGGCTGCATTCCTGCTCCTCGTGCCCGTGTGTCTGGCT CGTGTGCGTGTGTCAGGTCCGTCAGTGTGGGTGCATCCTGTCATGCTGTG TGTCTGTGCGTGGCGTGTAGGTCCGTGTGCTGGGTGCATCCTGTCATGCG TGTGTCTCGGCTCTGGTGTGTGTGTAGGTCGTGTGCTGGGTGCATCCTGT CATGCGTGTGTCCTGCTCTGTGGTGTGTAGGCTCGTGTGCTGGTGTCAGT CTGCTGTGTGTCTGCTCGTGGTCAGGCGTGTGTCAGGTCGTTGCTGGGTG CTGTCCTGTCATGCGTGTGTGCCTGCCTCTCTGGCTGTGTGTCGTAGTTG TGTGCTGGGTGCATCCTCTTGCATGTGTCGTGGCTCATGGCCCGTGTGTA GGTCGTGTGCTGGGTGCATCCTGTCATGCGTGTGTCCTGCTGTGGTGTGT GTGTAGGTTGTGTGCTGGGTGCATCCTCTCATGCGTGTGTCCTGGCTCGT GGCCCGTGTGTAGGTGTGTGCTGGGTGCATCTGTCATGCGTGTGTCATGC GTGTGTCTGCTCGTGCGTGTAGTGTGTGTGTGCTGGGTGCATCCTG		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					2050		chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAT others(623): Show CTGTATATATGTACAGCATGTATACTGTATATATGTACAGCATGTATACT ATGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATGTA TACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAGTA TGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATG TATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTA TACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATA CCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACC GTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGT ATATATACACAGTATGTATACTGTGTATGCAGTATGTATACAGTATACAT ACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTATGTATACT GTATACATACTGCATGCAGTATGTATACTGTATATATACACTATACAGTA TGTATACTGTATATATACACTATACAGTATGTATACTGTATATATACACA CAGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0162 a0001c0003t0005g0162	1	362	0.0028	630	c.-75 others(649): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTATAGTGTATATATACAGT ATACATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGTATG TATACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGCAT GCAGTATGTATACTGTATACATACTGCATACACAGTATACATACTGTGTA TATATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATA TATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATA TACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATA CGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACG GTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGT ATACATACTGTGTATATATACGGTATACATACATACAGTATACATACATA CAGTATACATGCTGTACACAGTATACATGCTGTACACAGTATACATGCTG TACATAGTATACATGCTGTACATATATACAGTATACATGCTGTACATATA TACA		NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14						chr2	TogoVar
NKX1-1_chr4_1397932_1411442	1398013	G G	GGTAGATC others(623): Show GGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGG ATGCAGGGTGTTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCA GGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTG TTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTCAGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTG AGTAGATCAGGTTGGATGCAGGGTGCTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGTTTTCAGGCATCTGGATGTGGGTAGATCAG GTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCAGGGTGTTTTCGGGCATCTGGATGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	1	382	0.0026	630	c.49 others(641): Show c.4918_*4919insTCACATCCAGATGCCCGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTG ATCTACCCACATCCAGATGCCTGAAAACACCCTGCATCCAACCTGATCTA CCCACATCCAGATGCCCGAAAGCACCCTGCATCCAACCTGATCTACTCAC ATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCA GATGCCTGAAAACACCCTGCATCCAACCTGATCTACTCACATCCAGATGC CCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAA AACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAAACAC CCTGCATCCAACCTGATCTACTCACATCCAGATGCCCGAAAACACCCTGC ATCCAACCTGATCTACCCACATCCAGATGCCTGAAAACACCCTGCATCCA ACCTGATCTACTCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTG ATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTA CCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTAC		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4918		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398033	G G	GGGTGTTT others(623): Show GGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTG TTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGAGTAG ATCAGGTTGGATGCCGGGTGCTTTCAGGCATCTGGATGTGGGTAGATCAG GTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCAGGGTGTTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCA GGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTG TTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATACAGGGTGTTTTC GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	1	382	0.0026	630	c.48 others(641): Show c.4898_*4899insTGGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAA AACACCCTGTATCCAACCTGATCTACTCACATCCAGATGCCCGAAAACAC CCTGCATCCAACCTGATCTACTCACATCCAGATGCCCGAAAACACCCTGC ATCCAACCTGATCTACCCACATCCAGATGCCTGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTG ATCTACCCACATCCAGATGCCTGAAAGCACCCGGCATCCAACCTGATCTA CTCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCA GATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAA AACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACAC CCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACC		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4898		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398488	T T	TTTTCAGG others(623): Show TTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGAGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGG ATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCCGGGTGTTTTCAGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATACAGGGTGCTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCC GGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTG TTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGCTTTCAGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG03486.hp1 HG02896.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0005 a0001c0001t0000g0005	2	382	0.0052	630	c.44 others(641): Show c.4443_*4444insGCACCCTGCATCCAACCTGATCTACCCACATCCA GATGCCTGAAAGCACCCTGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAACACCCTGCATCCAACCTGATCTACTCACATCCAGATGCCCGAA AACACCCTGCATCCAACCTGATCTACTCACATCCAGATGCCCGAAAACAC CCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGC ATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCTGAAAGCACCCTGTATCCAACCTG ATCTACCCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTA CCCACATCCAGATGCCTGAAAACACCCGGCATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACTCACATCCA GATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAACACCCGGCATCCAACCTGATCTACTCACATCCAGATGCCCGAA AACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAA		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4443		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398488	T T	TTTTCAGG others(623): Show TTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGAGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGG ATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCCGGGTGTTTTCAGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATACAGGGTGCTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCC GGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTG TTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGCTTTCGGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0005 a0001c0001t0000g0005	1	382	0.0026	630	c.44 others(641): Show c.4443_*4444insGCACCCTGCATCCAACCTGATCTACCCACATCCA GATGCCCGAAAGCACCCTGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAACACCCTGCATCCAACCTGATCTACTCACATCCAGATGCCCGAA AACACCCTGCATCCAACCTGATCTACTCACATCCAGATGCCCGAAAACAC CCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGC ATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCTGAAAGCACCCTGTATCCAACCTG ATCTACCCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTA CCCACATCCAGATGCCTGAAAACACCCGGCATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACTCACATCCA GATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAACACCCGGCATCCAACCTGATCTACTCACATCCAGATGCCCGAA AACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAA		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4443		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398533	T T	TTTTCGGG others(623): Show TTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAG GTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCA GGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTG CTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGAGTAGATCAGGTTGGATGCTGGGTGCTTTCGGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG03710.hp2 HG02735.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	2	382	0.0052	630	c.43 others(641): Show c.4398_*4399insGCACCCTGCATCCAACCTGATCTACCCACATCCA GATGCCCGAAAGCACCCAGCATCCAACCTGATCTACTCACATCCAGATGC CCGAAAACACCCTGCATCCAACCTGATCTACTCACATCCAGATGCCCGAA AACACCCTGCATCCAACCTGATCTACTCACATCCAGATGCCCGAAAGCAC CCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGC ATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTG ATCTACTCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTA CCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCA GATGCCCGAAAACACCCTGCATCCAACCTGATCTACTCACATCCAGATGC CCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAA AACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAA		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4398		chr4	TogoVar
NPIPB5_chr16_22505891_22541535	22534548	T T	TTCCACCC others(623): Show TTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTGCC GAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGAC ACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAG CAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCA CCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTCC CCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCTG CCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAG ACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTC AGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTC CACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACT GCCCTTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTCT GCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCCG AGCGTCAGCTCACTCCCCTTCCACCCTCAGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00323.hp1 HG00323.hp1	a0023 a0023	a0023c0027 a0023c0027	a0023c0027t0001 a0023c0027t0001	a0023c0027t0001g0009 a0023c0027t0001g0009	1	47	0.0213	630	c.157 others(639): Show c.1577_1578insTCCACCCTCAGCAGATGATAATATCAAGACACCTGC CGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGA CACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCA GCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCC ACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCACTC CCCTTCCACCCTCAGCTCCACCCTCAGCAGATGATAATATCAAGACACCT GCCGAGCGTCTGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAA GACACCTTCCGAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCT CAGCAGATGATAATATCAAGACACCTGCCGAGCGTCTGCGGGGGCCGCTT CCACCCTCAGCGGATGATAATCTCAAGACACCTTCCGAGCGTCAGCTCAC TGCCCTTCCACCCTCAGCAGATGATAATATCAAGACACCTGCCGAGCGTC TGCGGGGGCCGCTTCCACCCTCAGCGGATGATAATCTCAAGACACCTTCC GAGCGTCAGCTCACTCCCCTTCCACCCTCAGCTCCACCCTCAGC	p.Ala others(643): Show p.Ala526_Asp527insProProSerAlaAspAspAsnIleLysThrPr oAlaGluArgLeuArgGlyProLeuProProSerAlaAspAspAsnLeuL ysThrProSerGluArgGlnLeuThrProLeuProProSerAlaProPro SerAlaAspAspAsnIleLysThrProAlaGluArgLeuArgGlyProLe uProProSerAlaAspAspAsnLeuLysThrProSerGluArgGlnLeuT hrProLeuProProSerAlaProProSerAlaAspAspAsnIleLysThr ProAlaGluArgLeuArgGlyProLeuProProSerAlaAspAspAsnLe uLysThrProSerGluArgGlnLeuThrProLeuProProSerAlaProP roSerAlaAspAspAsnIleLysThrProAlaGluArgLeuArgGlyPro LeuProProSerAlaAspAspAsnLeuLysThrProSerGluArgGlnLe uThrAlaLeuProProSerAlaAspAspAsnIleLysThrProAlaGluA rgLeuArgGlyProLeuProProSerAlaAspAspAsnLeuLysThrPro SerGluArgGlnLeuThrProLeuProProSerAlaProProSerAla	NPIPB5	ENSG00000243716.12	transcript	ENST00000424340.7	protein_coding	7/7	4489/6463	1578/3402	526/1133		INFO_REALIGN_3_PRIME	chr16	TogoVar
NR3C2_chr4_148073764_148447414	148366441	T T	TAAAAGTA others(623): Show TAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT AAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT AAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT AAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT AAAAAGTACTTTTAAAAAAGAATACTTTTTA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	170	0.0059	630	c.175 others(651): Show c.1757+68662_1757+68663insTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAA AAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAA AAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAA AAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAA AAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGT ACTTTT		NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8						chr4	TogoVar
NRDC_chr1_51784210_51883727	51852549	A A	ATAGTTTT others(623): Show ATAGTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATAT AGTTTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATAT ATAGTTTTAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATAT AGTTTAAAACTATATAGTTTATATAGTTTTAAACTATATAGTTTATATAG TTTTAAACTATATAGTTTATATAGTTTTAAACTATATAGTTTAAACTATA TAGTTTTAAACTATATAAACTATATAGTTTTAAACTATATAAACTATATA GTTTTAAACTAGTTTATATATAGTTTTAAACTAGTTTAAACTATATAGTT TATGTAGTTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTA TGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAG TTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTA AACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTCATGTAGT TTTAAACTATATAGTTTAAAACTATATAGTTTATGTAGTTTTAAACTAGT TTATATTTTTTATATAGTTTAAACTATATAG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp2 HG02572.hp2 others(4): Show HG02451.hp1 HG02559.hp2 HG02572.hp2 HG03195.hp1 HG03471.hp1 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 others(4): Show a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096	7	244	0.0287	630	c.342 others(649): Show c.342-12036_342-12035insCTATATAGTTTAAACTATATAAAAAA TATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATAGT TTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTATA TAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGTT TAAAACTATATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAA CTACATAAACTATATAGTTTAAAACTACATAAACTATATAGTTTAAAACT ACATAAACTATATAGTTTAAACTAGTTTAAAACTATATATAAACTAGTTT AAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTAA AACTATATAGTTTAAACTATATAGTTTAAAACTATATAAACTATATAGTT TAAAACTATATAAACTATATAGTTTAAAACTATATAAACTATATAGTTTT AAACTATATAAACTATATAGTTTTAAACTATATAAACTATATAGTTTAAA ACTATATATAAACTATATAGTTTAAAACTATATATAAACTATATAGTTTA AAACTATATATAAACTATATAGTTTAAAACTATAAACTATATAGTTTAAA ACTA		NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30						chr1	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(623): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCC CCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCC AGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCA GCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02056.hp1 HG02083.hp1 others(3): Show HG02015.hp1 HG02056.hp1 HG02083.hp1 HG02300.hp1 NA18943.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0028 a0001c0001t0001g0060 a0001c0001t0001g0062 others(3): Show a0001c0001t0001g0028 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0088 a0001c0001t0025g0087	6	155	0.0387	630	c.155 others(649): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC CCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC TCCC		OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24						chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(623): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCC CCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCC AGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCA GCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	155	0.0065	630	c.155 others(649): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG GACGGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCC CCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC TCCC		OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24						chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(623): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCC GTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAG TCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCA GCCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAG CCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0012 a0004c0005t0012	a0004c0005t0012g0024 a0004c0005t0012g0024	1	155	0.0065	630	c.155 others(649): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG GGGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTC CCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCC TGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACC CCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACC TCCC		OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24						chrX	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(623): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTACTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCC TCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCCGCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCT GTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTC CCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0076 a0076	a0076c0146 a0076c0146	a0076c0146t0002 a0076c0146t0002	a0076c0146t0002g0034 a0076c0146t0002g0034	1	268	0.0037	630	c.292 others(645): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCCCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTC CCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCGCCACCTGTCCTG TGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCC CCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTG TCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC		OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55					INFO_REALIGN_3_PRIME	chr11	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(623): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCC CCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTG TCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCC TGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCTC ACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC TCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGT CCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0168 a0001c0028t0001g0168	1	268	0.0037	630	c.292 others(645): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTC ACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC TCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCTCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGT ACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCAC CTGTACTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC		OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55					INFO_REALIGN_3_PRIME	chr11	TogoVar
P2RX5_chr17_3668227_3701155	3680695	G G	GTCCTCCA others(623): Show GTCCTCCACCCTGCATCCTCCACCCTGCATCCTCCACCCTGCATCCTCCA CCCTGCGTCCTCCACCCAGCGTCCTCCACCCTGCATCCTCCACCCAGTGT CCTCCACCCTGCATCCTCCACCCAGCGTCCTCCACCCTGCATCCTCCACC CTGCATCCTCCACCCTGCATCCTCCACCCAGCGTCCTCCACCCTGCATCC TCCACCCTGCATCCTCCACCCAGTGTCCTCCACCCTGCATCCTCCACCCT GCATCCTCCACCCAGCGTCCTCCACCCTGCATCCTCCACCCAGTGTCCTC CACCCTGCATCCTCCACCCTGCATCCTCCACCCTGCATCCTCCACCCAGC GTCCTCCACCCTGCATCCTCCACCCTGCATCCTCCACCCTGCATCCTCCA CCCAGTGTCCTCCACCCTGCATCCTCCACCCTGCATCCTCCACCCTGCAT CCTCCACCCAGCGTCCTCCACCCTGCATCCTCCACCCTGCGTCCTCCACC CAGCGTCCTCCACCCTGCATCCTCCACCCAGTGTCCTCCACCCTGCATCC TCCACCCTGCATCCTCCACCCTGCATCCTCCACCCAGCGTCCTCCACCCT GCATCCTCCACCCTGCGTCCTCCACCCTGCA	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA19009.hp2 HG02155.hp1 NA19009.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0145 a0002c0002t0001g0151 a0001c0001t0001g0145 a0002c0002t0001g0151	2	362	0.0055	630	c.106 others(647): Show c.1065-912_1065-911insTGCAGGGTGGAGGACGCAGGGTGGAGGA TGCAGGGTGGAGGACGCTGGGTGGAGGATGCAGGGTGGAGGATGCAGGGT GGAGGATGCAGGGTGGAGGACACTGGGTGGAGGATGCAGGGTGGAGGACG CTGGGTGGAGGACGCAGGGTGGAGGATGCAGGGTGGAGGACGCTGGGTGG AGGATGCAGGGTGGAGGATGCAGGGTGGAGGATGCAGGGTGGAGGACACT GGGTGGAGGATGCAGGGTGGAGGATGCAGGGTGGAGGATGCAGGGTGGAG GACGCTGGGTGGAGGATGCAGGGTGGAGGATGCAGGGTGGAGGATGCAGG GTGGAGGACACTGGGTGGAGGATGCAGGGTGGAGGACGCTGGGTGGAGGA TGCAGGGTGGAGGATGCAGGGTGGAGGACACTGGGTGGAGGATGCAGGGT GGAGGATGCAGGGTGGAGGACGCTGGGTGGAGGATGCAGGGTGGAGGATG CAGGGTGGAGGATGCAGGGTGGAGGACGCTGGGTGGAGGATGCAGGGTGG AGGACACTGGGTGGAGGATGCAGGGTGGAGGACGCTGGGTGGAGGACGCA GGGTGGAGGATGCAGGGTGGAGGATGCAGGGTGGAGGATGCAGGGTGGAG GA		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	10/11						chr17	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)