Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	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
TTLL10_chr1_1168880_1202936	1184655	G G	GGCCTTCT others(533): Show GGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGACAGG CCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGCCCCCAGTT CATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTG AGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGC CCCCAGTTCATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGA CCCCCGTGAGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCA CCGTGTGCCCCCAGTTCATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCT CTTGGGGACCCCCGTGAGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTC TCCAGGCACCGTGTGCCCCCAGTTCATGCAGAAGCCTTCTAGGTTAGGGG GATGTTCTCTTGGGGACCCCCGTGAGGACAGGCCCTCCGGACAGTCTGGG AGCCAGTCTCCAGGCACTGTGTGCCCCCAGTTCATGCAGAA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02280.hp1 HG02280.hp1	a0010 a0010	a0010c0059 a0010c0059	a0010c0059t0001 a0010c0059t0001	a0010c0059t0001g0096 a0010c0059t0001g0096	1	382	0.0026	540	c.127 others(549): Show c.1272_1273insCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCC CGTGAGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGT GTGCCCCCAGTTCATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCTCTTG GGGACCCCCGTGAGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTCTCCA GGCACTGTGTGCCCCCAGTTCATGCAGAAGCCTTCTAGGTTAGGGGGATG TTCTCTTGGGGACCCCCGTGAGGACAGGCCCTCCGGACAGTCTGGGAGCC AGTCTCCAGGCACCGTGTGCCCCCAGTTCATGCAGAAGCCTTCTAGGTTA GGGGGATGTTCTCTTGGGGACCCCCGTGAGGACAGGCCCTCCGGACAGTC TGGGAGCCAGTCTCCAGGCACCGTGTGCCCCCAGTTCATGCAGAAGCCTT CTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGACAGGCCCTCC GGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGCCCCCAGTTCATGCA GAAG	p.Lys others(553): Show p.Lys424_Lys425insProSerArgLeuGlyGlyCysSerLeuGlyAs pProArgGluAspArgProSerGlyGlnSerGlySerGlnSerProGlyT hrValCysProGlnPheMetGlnLysProSerArgLeuGlyGlyCysSer LeuGlyAspProArgGluAspArgProSerGlyGlnSerGlySerGlnSe rProGlyThrValCysProGlnPheMetGlnLysProSerArgLeuGlyG lyCysSerLeuGlyAspProArgGluAspArgProSerGlyGlnSerGly SerGlnSerProGlyThrValCysProGlnPheMetGlnLysProSerAr gLeuGlyGlyCysSerLeuGlyAspProArgGluAspArgProSerGlyG lnSerGlySerGlnSerProGlyThrValCysProGlnPheMetGlnLys ProSerArgLeuGlyGlyCysSerLeuGlyAspProArgGluAspArgPr oSerGlyGlnSerGlySerGlnSerProGlyThrValCysProGlnPheM etGlnLys	TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding	13/16	1450/2288	1273/2022	425/673		INFO_REALIGN_3_PRIME	chr1	TogoVar
TTLL10_chr1_1168880_1202936	1184655	G G	GGCCTTCT others(533): Show GGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGACAGG CCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGCCCCCAGTT CATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGATCCCCGTG AGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGC CCCCAGTTCATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGA CCCCCGTGAGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCA CCGTGTGCCCCCAGTTCATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCT CTTGGGGACCCCCGTGAGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTC TCCAGGCACCGTGTGCCCCCAGTTCATGCAGAAGCCTTCTAGGTTAGGGG GATGTTCTCTTGGGGACCCCCGTGAGGACAGGCCCTCCGGACAGTCTGGG AGCCAGTCTCCAGGCACCGTGTGCCCCCAGTTCATGCAGAA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA19063.hp2 NA18962.hp1 NA19063.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0216 a0002c0001t0002g0224 a0002c0001t0002g0216 a0002c0001t0002g0224	2	382	0.0052	540	c.126 others(557): Show c.1261-173_1261-172insTCCCCGTGAGGACAGGCCCTCCGGACAG TCTGGGAGCCAGTCTCCAGGCACCGTGTGCCCCCAGTTCATGCAGAAGCC TTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGACAGGCCCT CCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGCCCCCAGTTCATG CAGAAGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGA CAGGCCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGCCCCC AGTTCATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCC CGTGAGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGT GTGCCCCCAGTTCATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCTCTTG GGGACCCCCGTGAGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTCTCCA GGCACCGTGTGCCCCCAGTTCATGCAGAAGCCTTCTAGGTTAGGGGGATG TTCTCTTGGGGA		TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
TTLL10_chr1_1168880_1202936	1184655	G G	GGCCTTCT others(533): Show GGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGACAGG CCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGCCCCCAGTT CATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGATCCCCGTG AGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGC CCCCAGTTCATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGA CCCCCGTGAGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCA CCGTGTGCCCCCAGTTCATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCT CTTGGGGACCCCCGTGAGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTC TCCAGGCACCGTGTGCCCCCAGTTCATGCAGAAGCCTTCTAGGTTAGGGG GATGTTCTCTTGGGGATCCCCGTGAGGACAGGCCCTCCGGACAGTCTGGG AGCCAGTCTCCAGGCACCGTGTGCCCCCAGTTCATGCAGAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0217 a0001c0003t0003g0217	1	382	0.0026	540	c.126 others(557): Show c.1261-173_1261-172insTCCCCGTGAGGACAGGCCCTCCGGACAG TCTGGGAGCCAGTCTCCAGGCACCGTGTGCCCCCAGTTCATGCAGAAGCC TTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGACAGGCCCT CCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGCCCCCAGTTCATG CAGAAGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGA CAGGCCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGCCCCC AGTTCATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGATCCC CGTGAGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGT GTGCCCCCAGTTCATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCTCTTG GGGACCCCCGTGAGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTCTCCA GGCACCGTGTGCCCCCAGTTCATGCAGAAGCCTTCTAGGTTAGGGGGATG TTCTCTTGGGGA		TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
TTLL10_chr1_1168880_1202936	1184655	G G	GGCCTTCT others(533): Show GGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGACAGG CCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGCTCCCAGTT CATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTG AGGACAGGCCCTCCAGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGC CCCCAGTTCATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGA CCCCCGTGAGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCA CCGTGTGCCCCCAGTTCATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCT CTTGGGGACCCCCGTGAGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTC TCCAGGCACCGTGTGCCCCCAGTTCATGCAGAAGCCTTCTAGGTTAGGGG GATGTTCTCTTGGGGACCCCCGTGAGGACAGGCCCTCCGGACAGTCTGGG AGCCAGTCTCCAGGCACCGTGTGCCCCCAGTTCATGCAGAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02976.hp1 HG03130.hp2 others(1): Show HG02258.hp1 HG02976.hp1 HG03130.hp2 HG03139.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0004 a0005c0012t0004	a0005c0012t0004g0019 a0005c0012t0004g0072 a0005c0012t0004g0074 a0005c0012t0004g0019 a0005c0012t0004g0072 a0005c0012t0004g0074	4	382	0.0105	540	c.126 others(557): Show c.1261-223_1261-222insTCCCAGTTCATGCAGAAGCCTTCTAGGT TAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGACAGGCCCTCCAGACAG TCTGGGAGCCAGTCTCCAGGCACCGTGTGCCCCCAGTTCATGCAGAAGCC TTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGACAGGCCCT CCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGCCCCCAGTTCATG CAGAAGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGA CAGGCCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGCCCCC AGTTCATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCC CGTGAGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGT GTGCCCCCAGTTCATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCTCTTG GGGACCCCCGTGAGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTCTCCA GGCACCGTGTGC		TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
TTLL10_chr1_1168880_1202936	1184655	G G	GGCCTTCT others(533): Show GGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGACAGG CCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGCTCCCAGTT CATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTG AGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGC CCCCAGTTCATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGA CCCCCGTGAGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCA CCGTGTGCCCCCAGTTCATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCT CTTGGGGACCCCCGTGAGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTC TCCAGGCACCGTGTGCCCCCAGTTCATGCAGAAGCCTTCTAGGTTAGGGG GATGTTCTCTTGGGGACCCCCGTGAGGACAGGCCCTCCGGACAGTCTGGG AGCCAGTCTCCAGGCACCGTGTGCCCCCAGTTCATGCAGAA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0004 a0006c0020t0004	a0006c0020t0004g0231 a0006c0020t0004g0231	1	382	0.0026	540	c.126 others(557): Show c.1261-223_1261-222insTCCCAGTTCATGCAGAAGCCTTCTAGGT TAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGACAGGCCCTCCGGACAG TCTGGGAGCCAGTCTCCAGGCACCGTGTGCCCCCAGTTCATGCAGAAGCC TTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGACAGGCCCT CCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGCCCCCAGTTCATG CAGAAGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGA CAGGCCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGCCCCC AGTTCATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCC CGTGAGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGT GTGCCCCCAGTTCATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCTCTTG GGGACCCCCGTGAGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTCTCCA GGCACCGTGTGC		TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
TTN_chr2_178520989_178812423	178757217	A A	ACAGTAAG others(533): Show ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGT ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGT GCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACT TACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTA ATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGT GCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACT TACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTG	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0132 a0132	a0132c0065 a0132c0065	a0132c0065t0003 a0132c0065t0003	a0132c0065t0003g0152 a0132c0065t0003g0152	1	242	0.0041	540	c.106 others(559): Show c.10678+324_10678+325insCACTTAAAGTAAGTACAGTATTACTT ACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTAC AGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTA AAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTT ACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTAC AGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTA AAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTT ACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTAC AGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTA AAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTT ACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTAC AGTATTACTTACTG		TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	45/362						chr2	TogoVar
TTN_chr2_178739405_178812423	178757217	A A	ACAGTAAG others(533): Show ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGT ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGT GCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACT TACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTA ATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGT GCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACT TACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTG	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0220 a0005c0005t0003g0220	1	370	0.0027	540	c.103 others(561): Show c.10303+1766_10303+1767insCACTTAAAGTAAGTACAGTATTAC TTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGT ACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACT TAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTAC TTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGT ACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACT TAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTAC TTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGT ACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACT TAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTAC TTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGT ACAGTATTACTTACTG		TTN	ENSG00000155657.29	transcript	ENST00000360870.10	protein_coding	44/45						chr2	TogoVar
UCN3_chr10_5359966_5379692	5370041	A A	ATGGGTGT others(533): Show ATGGGTGTGTATGGGTGTGTATATGTGTGTATGTGTGCGTATGTGTGTGT GTATGTGTGTGTGTATGTGTGTGTATGTGTGTGTATATGTGCGTGTATAT GTGTGTGTGTATATGCGTGTGTATGCGTGTGTGTATATGCGTGTGTATAT GCGTGTATGTGTGTGTGTGCATGTGTGTATGTGTGTATATGTGTGTATAT GTGTGTGTATGTGTGTGTATATGCGTGTGTATGCGTGTGTGTATGTGTGT GTATGTGTGTGTATGTGTGTATGTGTGTGTATATGTGTGTGTATGTGTGT GTGTATGTGTATGTGTGTATGTGTGTGTATATGTGTGTATGTGTGTGTAT GTGTGTGTATGTGTGTATATGTGTGTGTATGTGTGTATATGCGTGTGTAT GCGTGTGTGTGTATGCGTGTGTGTGTATGTGTGTGTATGCGTGTGTGTGT GTGTGTATATGCGTGTGTATGCGTGTGTATGCGTGTGTATGGGTGTGTAT GTGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0373 a0001c0002t0023g0373	1	468	0.0021	540	c.-6- others(555): Show c.-6-3673_-6-3672insGGGTGTGTATGGGTGTGTATATGTGTGTAT GTGTGCGTATGTGTGTGTGTATGTGTGTGTGTATGTGTGTGTATGTGTGT GTATATGTGCGTGTATATGTGTGTGTGTATATGCGTGTGTATGCGTGTGT GTATATGCGTGTGTATATGCGTGTATGTGTGTGTGTGCATGTGTGTATGT GTGTATATGTGTGTATATGTGTGTGTATGTGTGTGTATATGCGTGTGTAT GCGTGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTATGTGTGTGTAT ATGTGTGTGTATGTGTGTGTGTATGTGTATGTGTGTATGTGTGTGTATAT GTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTATATGTGTGTGTATGT GTGTATATGCGTGTGTATGCGTGTGTGTGTATGCGTGTGTGTGTATGTGT GTGTATGCGTGTGTGTGTGTGTGTATATGCGTGTGTATGCGTGTGTATGC GTGTGTATGGGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGTAT GTGTGTGTGT		UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5D_chr8_35230475_35801540	35509498	T T	TCTCCTCT others(533): Show TCTCCTCTCCTCTCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCTTCCCCT CTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTCTCTCCTCCCCTCCCC TCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCTCCT CCCCCCTTCCCTCCCCTTGCCTCTCCCCTCCCTTCCCCTCTCCCCTCCCC TCCCTTCCCCTCTCCCCTCCCCCCTCCCCTCCCTTCCCCTCTCCCCTCCC CTCCCCTCCATTCCCCTCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCTC CCCTCTCCCCTCCCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCT CTCCTCTCCTTCCCTCCCCCTCCCCTCCCATTCCTTCCCCTCCTATTCCT TCCCCTCCCTTTCCCTCCCATTCCTTCCCCTCCCTTTCTCTCCCATTCCT TCCCCTCCCTTTCCCCTACCCCTCCCCTGTCTTCTCCTCCC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0062 a0001c0002t0013g0062	1	64	0.0156	540	c.104 others(559): Show c.104-39786_104-39785insCTCTCCCCTCCCTTCCCCTCTCCCCT CCCCTCCCTTCCCCTCTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTC TCTCCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCT CCCCTCCCCTCTCCTCCCCCCTTCCCTCCCCTTGCCTCTCCCCTCCCTTC CCCTCTCCCCTCCCCTCCCTTCCCCTCTCCCCTCCCCCCTCCCCTCCCTT CCCCTCTCCCCTCCCCTCCCCTCCATTCCCCTCTCCCCTCCCCCCCTCCC CTCCCCTCCCCTCTCCCCTCTCCCCTCCCCCCTCTCCCCTCCCCCCTCCC CTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCTCCCCTCCCCTCTCCTCTCCTTCCCTCCCCCTCCCCTCCCATTCCT TCCCCTCCTATTCCTTCCCCTCCCTTTCCCTCCCATTCCTTCCCCTCCCT TTCTCTCCCATTCCTTCCCCTCCCTTTCCCCTACCCCTCCCCTGTCTTCT CCTCCCCTCCTCTC		UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr8	TogoVar
VCX3B_chrX_8459830_8471510	8467304	A A	AGGGAGGG others(533): Show AGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGGGGAAGAGG AGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGA GGGGGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGT GGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGG AGGTGTGTGGGGAGGGAGGGAGGGGGGAAGAGGAGGTGTGTGGGGAGGGA GGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGGGGAAGAGGAGGTG TGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGGG GAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGA GGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTG TGTGGGGAGGGAGGGAGGAATAGGTGGTGTGTGGGGAGGGAGGGAGGAAG AGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0014 a0014	a0014c0020 a0014c0020	a0014c0020t0036 a0014c0020t0036	a0014c0020t0036g0001 a0014c0020t0036g0001	1	271	0.0037	540	c.92 others(549): Show c.921_*922insGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGG AGGGGGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGT GGGGAGGGAGGGAGGGGGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGG AGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGGGGAAGAGGAGGT GTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGG GGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGA GGGAGGGAGGGGGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGA GGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAATAGGTGGTGTGTGGGGA GGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTG TGTG		VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding					795		chrX	TogoVar
VWA5B2_chr3_184224585_184247329	184235770	C C	CCATGTGT others(533): Show CCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTC CCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTAC CTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAG CCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTC CCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTAC CTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAG CCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTC CCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTAC CTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAG CCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTC CCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01070.hp1 HG01109.hp2 others(15): Show HG00280.hp2 HG01070.hp1 HG01109.hp2 HG01952.hp2 HG02080.hp1 HG02129.hp2 HG02886.hp2 HG02922.hp1 HG03239.hp1 HG03669.hp1 HG03710.hp1 NA18952.hp2 NA18969.hp2 NA18973.hp2 NA18982.hp2 NA19007.hp2 NA19009.hp2 NA19076.hp1	a0002 a0021 a0022 others(1): Show a0002 a0021 a0022 a0024	a0002c0002 a0002c0014 a0002c0039 others(3): Show a0002c0002 a0002c0014 a0002c0039 a0021c0016 a0022c0018 a0024c0020	a0002c0002t0002 a0002c0014t0002 a0002c0039t0002 others(3): Show a0002c0002t0002 a0002c0014t0002 a0002c0039t0002 a0021c0016t0002 a0022c0018t0002 a0024c0020t0002	a0002c0002t0002g0005 a0002c0002t0002g0019 a0002c0002t0002g0033 others(6): Show a0002c0002t0002g0005 a0002c0002t0002g0019 a0002c0002t0002g0033 a0002c0002t0002g0045 a0002c0014t0002g0039 a0002c0039t0002g0005 a0021c0016t0002g0035 a0022c0018t0002g0005 a0024c0020t0002g0005	18	342	0.0526	540	c.110 others(557): Show c.1102-377_1102-376insGTACCTCCAGAGTCCCACACACAGCCAT GTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCAC ACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCC AGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCAT GTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCAC ACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCC AGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCAT GTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCAC ACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCC AGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCAT GTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCAC ACACAGTCATGT		VWA5B2	ENSG00000145198.15	transcript	ENST00000691901.1	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr3	TogoVar
VWA5B2_chr3_184224585_184247329	184235770	C C	CCATGTGT others(533): Show CCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTC CCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTAC CTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAG CCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTC CCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTAC CTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAG CCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTC CCACACACAGCCATGTGTACCTCCAGAGTCCCACACAGCCATGTGTACCT CCAGAGTCCCACACACAGCCATGTGTACCTCCATGAGTCCCACACACAGC CATGTGTACCTCCAGAGTCCCCACAACAGCCATGTGTACCTCCAGAGTCC CACACACAGCCATGTGTACCTCCAGAGTCCCCACACACAGT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0034 a0002c0002t0002g0034	1	342	0.0029	540	c.110 others(557): Show c.1102-377_1102-376insGTACCTCCAGAGTCCCACACACAGCCAT GTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCAC ACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCC AGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCAT GTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCAC ACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCC AGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCAT GTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCAC ACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAT GAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCCACAACAGCCATG TGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCCAC ACACAGTCATGT		VWA5B2	ENSG00000145198.15	transcript	ENST00000691901.1	protein_coding	8/19					INFO_REALIGN_3_PRIME	chr3	TogoVar
WDR70_chr5_37374318_37758435	37557901	A A	ATACTCTT others(533): Show ATACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAA AAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAATACTCT TCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAA CTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTG AAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCT TTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTA CTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAG AGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCA AAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTC TTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAAT ACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	242	0.0041	540	c.917 others(559): Show c.917+41323_917+41324insTACTCTTCAAAAGAGTACTCTTTTGA ATACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTT TTGAATACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGAGTAC TCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAAAAGA GTACTCTTTTGAAAACTCTTCAAAAGAGTACTCTTTTGAAAACTCTTCAA AAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCT TCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATA CTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTG AATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTACTCT TTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAGAGTA CTCTTTTGAATACTCTTCAAAAGAGTACTCTTTTGAATACTCTTCAAAAG AGTACTCTTTTGAA		WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr5	TogoVar
WDR81_chr17_1719704_1743585	1739538	A A	AGCCTGAT others(533): Show AGCCTGATTCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGC AGGGAGTGAGGAGCCGTACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGCGCGGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAG GCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCA GGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACA GTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGG GAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGC GGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGAGCAGGACAGTCAGGGTGGGAGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0003 a0003c0011t0003	a0003c0011t0003g0002 a0003c0011t0003g0002	1	431	0.0023	540	c.18 others(551): Show c.1853_*1854insGCCTGATTCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGG GAGGCGGCCTGATGCAGGGAGTGAGGAGCCGTACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGCGCGGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAG GAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCC GGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACA GTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTCAGGGTGG GAGGCG		WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding					954		chr17	TogoVar
WDR81_chr17_1719704_1743585	1739862	C C	CAGGGAGT others(533): Show CAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGG AGTGAGGCACAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGA GGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGC CGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGAC AGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCCGGACAGTGA GGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTG GGAAGGAGCCTGATGCAGGGAGTGAGGCGCCGGACAGTGAGGGTGGGAAG GAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCC TGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATG CAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGG AGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00639.hp2 HG00738.hp1 others(48): Show HG00597.hp1 HG00639.hp2 HG00738.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01496.hp2 HG01515.hp1 HG01891.hp2 HG01934.hp1 HG02027.hp1 HG02056.hp1 HG02071.hp2 HG02155.hp1 HG02300.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02735.hp1 HG02818.hp1 HG03017.hp1 HG03471.hp2 HG03486.hp2 HG03654.hp1 HG03704.hp1 HG03710.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18956.hp1 NA18971.hp1 NA18981.hp2 NA18984.hp1 NA18990.hp2 NA18998.hp2 NA19009.hp2 NA19030.hp1 NA19066.hp2 NA19079.hp2 NA19081.hp2 NA19090.hp1 NA20300.hp1 NA20905.hp1	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0017 a0019 a0026	a0001c0013 a0001c0069 a0003c0004 others(9): Show a0001c0013 a0001c0069 a0003c0004 a0003c0005 a0003c0011 a0003c0029 a0003c0032 a0003c0044 a0005c0008 a0017c0045 a0019c0056 a0026c0068	a0001c0013t0003 a0001c0069t0003 a0003c0004t0003 others(10): Show a0001c0013t0003 a0001c0069t0003 a0003c0004t0003 a0003c0004t0013 a0003c0005t0003 a0003c0011t0003 a0003c0029t0003 a0003c0032t0003 a0003c0044t0003 a0005c0008t0003 a0017c0045t0003 a0019c0056t0003 a0026c0068t0003	a0001c0013t0003g0002 a0001c0013t0003g0057 a0001c0069t0003g0002 others(21): Show a0001c0013t0003g0002 a0001c0013t0003g0057 a0001c0069t0003g0002 a0003c0004t0003g0002 a0003c0004t0003g0016 a0003c0004t0003g0031 a0003c0004t0003g0061 a0003c0004t0003g0091 a0003c0004t0013g0002 a0003c0005t0003g0002 a0003c0005t0003g0021 a0003c0005t0003g0042 a0003c0005t0003g0065 a0003c0005t0003g0080 a0003c0011t0003g0002 a0003c0011t0003g0066 a0003c0011t0003g0067 a0003c0029t0003g0002 a0003c0032t0003g0002 a0003c0044t0003g0002 a0005c0008t0003g0002 a0017c0045t0003g0002 a0019c0056t0003g0002 a0026c0068t0003g0068	51	431	0.1183	540	c.21 others(551): Show c.2177_*2178insAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAG GAGCCTGATGCAGGGAGTGAGGCACAGGACAGTGAGGGTGGGAAGTGGCC TGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATG CAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGG AGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGA GGCGCCGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGC CGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCCGGAC AGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGA GGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTG GGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGG CGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCC TGATGT		WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding					1278		chr17	TogoVar
WDR81_chr17_1719704_1743585	1739862	C C	CAGGGAGT others(533): Show CAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGG AGTGAGGCGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGA GGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGC CGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGAC AGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCCGGACAGTGA GGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTG GGAAGGAGCCTGATGCAGGGAGTGAGGCGCCGGACAGTGAGGGTGGGAAG GAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCC TGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATG CAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGG AGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0002 a0003c0004t0003g0002	1	431	0.0023	540	c.21 others(551): Show c.2177_*2178insAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAG GAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGTGGCC TGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATG CAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGG AGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGA GGCGCCGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGC CGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCCGGAC AGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGA GGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTG GGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGG CGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCC TGATGT		WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding					1278		chr17	TogoVar
WDR87_chr19_37879823_37911594	37881089	A A	AATATATA others(533): Show AATATATATATATTATATATATATATATAATATATATAATATATATATAA TATATATATATTATATATATTATATATAATATATATATTATATATATATT ATATATATATTATATATATAATATATATAATATATATATAATATATATTA TATATATAATATATATATATTATATATATAATATATATATTTAATATATA TATTATATATATAATATATATTATATATATATAATATATATTTAATATAT ATATTATATATATAATATATATTATATATATAATATATATTATATATATA ATATATATATTTAATATATATTATATATATAATATATATATTATATATAT AATATATATTTAATATATATATTATATATATAATATATATATTATATATA TATAATATATATATTTAATATATATATTATATATATAATATATATATTTA ATATATATTATATATATAATATATATATTATATATATAATATATATATAA TATATATATTATATATATAATATATATTATATATATATTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0157 a0003c0004t0001g0157	1	330	0.0030	540	c.38 others(551): Show c.3842_*3843insATAATATATATATAATATATATTATATATATAAT ATATATATTATATATATATTATATATATAATATATATATTATATATATAA TATATATTAAATATATATATTATATATATAATATATATATTAAATATATA TATTATATATATATAATATATATATTATATATATAATATATATATTAAAT ATATATTATATATATAATATATATATTATATATATAATATATATTAAATA TATATATTATATATATAATATATATTATATATATAATATATATTATATAT ATAATATATATATTAAATATATATTATATATATATAATATATATTATATA TATAATATATATATTAAATATATATATTATATATATAATATATATATATT ATATATATAATATATATTATATATATATTATATATATTATATATATAATA TATATATAATATATATATAATATATATATTATATATAATATATATAATAT ATATATATTATATATATATTATATATATTATATATATATATATAATATAT ATATAT		WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding					3733		chr19	TogoVar
XXYLT1_chr3_195063284_195276159	195103442	C C	CGCCAGCG others(533): Show CGCCAGCGGCCTGCGTCCATCACCCCACGCCAGCGGCCTGCGTCCATCAC CCCACGCCAGCGGCCTGCGTCCATCACCCCACGCCAGCGGCCTGCGTCCA TCACCCCACGCCAGCGGCCTGCGTCCATCACCCCACGCCAGCGGCCTGCG TCCATCACCCCACGCCAGCGGCCTGCGTCCATCACCCCACGCCAGCGGCC TGCGTCCATCACCCCACGCCAGCGGCCTGCGTCCATCACCCCACGCCAGC GGCCTGCGTCCATCACCCCACGCCAGCGGCCTGCGTCCATCACCCCACGC CAGCGGCCTGCGTCCATCACCCCACGCCAGCGGCCTGCGTCCATCACCCC ACGCCAGCGGCCTGCGTCCATCACCCCACGCCAGCGGCCTGCGTCCATCA CCCCACGCCAGCGGCCTGCGTCCATCACCCCACGCCAGCGGCCTGCGTCC ATCACCCCACGCCAGCGGCCTGCGTCCATCACCTCACGCCAGCGGCCTGC GTCCATCACCCCACGCCAGCGGCCTGCGTCCATCACCTCAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02056.hp1 HG03239.hp1 others(3): Show HG02040.hp2 HG02056.hp1 HG03239.hp1 NA18944.hp1 NA20300.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0002c0002t0004	a0001c0001t0001g0024 a0001c0001t0003g0014 a0001c0001t0003g0191 others(3): Show a0001c0001t0001g0024 a0001c0001t0003g0014 a0001c0001t0003g0191 a0001c0001t0005g0010 a0001c0001t0005g0127 a0002c0002t0004g0011	6	198	0.0303	540	c.786 others(559): Show c.786-33332_786-33331insATGAGGTGATGGACGCAGGCCGCTGG CGTGGGGTGATGGACGCAGGCCGCTGGCGTGAGGTGATGGACGCAGGCCG CTGGCGTGGGGTGATGGACGCAGGCCGCTGGCGTGGGGTGATGGACGCAG GCCGCTGGCGTGGGGTGATGGACGCAGGCCGCTGGCGTGGGGTGATGGAC GCAGGCCGCTGGCGTGGGGTGATGGACGCAGGCCGCTGGCGTGGGGTGAT GGACGCAGGCCGCTGGCGTGGGGTGATGGACGCAGGCCGCTGGCGTGGGG TGATGGACGCAGGCCGCTGGCGTGGGGTGATGGACGCAGGCCGCTGGCGT GGGGTGATGGACGCAGGCCGCTGGCGTGGGGTGATGGACGCAGGCCGCTG GCGTGGGGTGATGGACGCAGGCCGCTGGCGTGGGGTGATGGACGCAGGCC GCTGGCGTGGGGTGATGGACGCAGGCCGCTGGCGTGGGGTGATGGACGCA GGCCGCTGGCGTGGGGTGATGGACGCAGGCCGCTGGCGTGGGGTGATGGA CGCAGGCCGCTGGC		XXYLT1	ENSG00000173950.16	transcript	ENST00000310380.11	protein_coding	3/3						chr3	TogoVar
ZBTB8A_chr1_32534427_32610941	32581182	T T	TTATATAT others(533): Show TTATATATAAATATATAACTATATTATAATATAGTTATATAATATATATT ATAACTATATTAAATATATAAATTATATAATATATATTATATATTGTATA TTATATAATTTATATAATATATTATATGTTATATAATATATATTATATAT TGTATATATTATATTATATATTATATATTTTATATATCATATATAGTATG CTATATAATATATATTTTTATATATTATATAGTATACTATATATTTTTAT ATATTATATATAATATATATAATTATATATCATATATATTTATATAATAT ATGATATATAATATATAATATATATTATGTATTATATAATTATATAAAAT ATATCATATATTATATATTATAAATAATATATTATATATATTATATATTA TAAATAATATATTATATATTATATTATATATTATAAATAATATATTATAT ATTATGTTATATATTATAAATAATATATTATATATTATATTATAAATAAT ATATTATATATTATAAATAATATATTATATATAATATGTTA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp2 HG01516.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0124 a0001c0001t0001g0125	2	302	0.0066	540	c.-1- others(557): Show c.-1-11744_-1-11743insATAAATATATAACTATATTATAATATAG TTATATAATATATATTATAACTATATTAAATATATAAATTATATAATATA TATTATATATTGTATATTATATAATTTATATAATATATTATATGTTATAT AATATATATTATATATTGTATATATTATATTATATATTATATATTTTATA TATCATATATAGTATGCTATATAATATATATTTTTATATATTATATAGTA TACTATATATTTTTATATATTATATATAATATATATAATTATATATCATA TATATTTATATAATATATGATATATAATATATAATATATATTATGTATTA TATAATTATATAAAATATATCATATATTATATATTATAAATAATATATTA TATATATTATATATTATAAATAATATATTATATATTATATTATATATTAT AAATAATATATTATATATTATGTTATATATTATAAATAATATATTATATA TTATATTATAAATAATATATTATATATTATAAATAATATATTATATATAA TATGTTATATAT		ZBTB8A	ENSG00000160062.15	transcript	ENST00000373510.9	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
ZNF365_chr10_62369369_62407450	62370809	C C	CATCATAT others(533): Show CATCATATACATCATATACATCATATATGATATATACATCATATATCACA CATATGATATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATATATCATATATCACACATATGATATATATCATACATAT CACACATATCATATATATCATACATATCACATATATCATATATATCATAC ATATCACATATATGATATATATCATATATATCACATATATGATATATATC ATATATATCACATATATCATATATATCATATATATCACATATATGATATA TATATCATATATATCACATATATGATATATATATCATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0023 a0002c0002t0023	a0002c0002t0023g0085 a0002c0002t0023g0085	1	350	0.0029	540	c.-36 others(551): Show c.-3663_-3662insATCATATACATCATATACATCATATATGATATAT ACATCATATATCACACATATGATATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATATATCATATATCACACATATGAT ATATATCATACATATCACACATATCATATATATCATACATATCACATATA TCATATATATCATACATATCACATATATGATATATATCATATATATCACA TATATGATATATATCATATATATCACATATATCATATATATCATATATAT CACATATATGATATATATATCATATATATCACATATATGATATATATATC ATATAT		ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding					3559		chr10	TogoVar
ADARB2_chr10_1172313_1742525	1265543	C C	CGGGGGCC others(534): Show CGGGGGCCCAGGGTCCCCCGGAAGACGGCCTGAGCCAGGTCCACGCTCCC CCGGAAAACGGCCTGAGAGGGGGCCCAGGCTCTCCCGGAAGACGGCCTGA GTCAGGTCCACGCTCTCCCGGAAGACGGCCTGAGAGGGGGGCCCAGGCTC TCCCGGAAGACGGCCTGAGTCAGGTCCACGCTCTCCCGGAAGACGGCCTG AGAGGGGGGCCCAGGCTCTCCCGGAAGACGGCCTGAGCCAGGTCCACGCT CCCCCGGAAGACGCCCTGAGCGGGGGCCCAGGGTCCCCCGGAAGACGGCC TGAGCCAGGTCCACGCTCCCCCGGAAAACGGCCTGAGAGGGGGCCCAGGC TCTCCCGGAAGACGGCCTGAGTCAGGTCCACGCTCTCCCAGAAGACGGCC TGAGAGGGGGGCCCAGGCTCTCCCGGAAGACGGCCTGAGCCAGGTCCACG CTCTCCCGGAAGACGGCCTGAGAGGGGGGCCCAGGCTCTCCCGGAAGACG GCCTGAGCCAGGTCCACGCTCCCCCGGAAGACGGCCTGAGAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0070 a0001c0003t0001g0070	1	106	0.0094	541	c.119 others(560): Show c.1192+5411_1192+5412insCTCTCAGGCCGTCTTCCGGGGGAGCG TGGACCTGGCTCAGGCCGTCTTCCGGGAGAGCCTGGGCCCCCCTCTCAGG CCGTCTTCCGGGAGAGCGTGGACCTGGCTCAGGCCGTCTTCCGGGAGAGC CTGGGCCCCCCTCTCAGGCCGTCTTCTGGGAGAGCGTGGACCTGACTCAG GCCGTCTTCCGGGAGAGCCTGGGCCCCCTCTCAGGCCGTTTTCCGGGGGA GCGTGGACCTGGCTCAGGCCGTCTTCCGGGGGACCCTGGGCCCCCGCTCA GGGCGTCTTCCGGGGGAGCGTGGACCTGGCTCAGGCCGTCTTCCGGGAGA GCCTGGGCCCCCCTCTCAGGCCGTCTTCCGGGAGAGCGTGGACCTGACTC AGGCCGTCTTCCGGGAGAGCCTGGGCCCCCCTCTCAGGCCGTCTTCCGGG AGAGCGTGGACCTGACTCAGGCCGTCTTCCGGGAGAGCCTGGGCCCCCTC TCAGGCCGTTTTCCGGGGGAGCGTGGACCTGGCTCAGGCCGTCTTCCGGG GGACCCTGGGCCCCC		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	4/9						chr10	TogoVar
ARHGEF18_chr19_7343937_7477478	7450885	G G	GTGGGATC others(534): Show GTGGGATCTTGCTGTCCGTTTCCGAGATGTTAGTGTGGATCTTGCTCTCC GTTTCCGAGATGTTAATATGGGATCTTGCTTTCTGTTTCCGCGATGTTAA TGTGGGATCTTGCTCTCCGTTTCCCATATGTTAATACGGGATCTTGCTTT CTGTTTCCGAGATGTTAATGCAGGATCTTGCTTTCCGTTTCTGAGATGTT AATGTGGGATCTTGCTGTCCATTTCCGAGATGTTAATTGTGGATCTTGCT TTCCGTTTCCAAGATGTTACTGCGGGATCTTGCTTTCCGTTTCCGAGATG TTAATGTGGATCTTGCTTTCTGTTTCCGAGATGGTAATACGGGATCTTGC TGTCCGTTTCCGAGGTGTTAATGTGGGATCTTGCTTTCCGTTTCCGAGAT ATTAATACGGGATCTTGCTGTCCATTTCCGATATGTTAATGTGGGATTTT GCTGTCCGTTTCCAAGATGTTAATGTGGATCTTGCTTTCCATTTCCGAGA TGTTAATGTGGGATCTTGCTGTCCATTTCCGATATGTTAATA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03834.hp1 NA19000.hp1 HG03704.hp1 HG03834.hp1 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0019 a0001c0021 a0002c0036 a0001c0019 a0001c0021 a0002c0036	a0001c0019t0006 a0001c0021t0006 a0002c0036t0006 a0001c0019t0006 a0001c0021t0006 a0002c0036t0006	a0001c0019t0006g0063 a0001c0021t0006g0088 a0002c0036t0006g0132 a0001c0019t0006g0063 a0001c0021t0006g0088 a0002c0036t0006g0132	3	298	0.0101	541	c.173 others(558): Show c.1738-264_1738-263insTGGGATCTTGCTGTCCGTTTCCGAGATG TTAGTGTGGATCTTGCTCTCCGTTTCCGAGATGTTAATATGGGATCTTGC TTTCTGTTTCCGCGATGTTAATGTGGGATCTTGCTCTCCGTTTCCCATAT GTTAATACGGGATCTTGCTTTCTGTTTCCGAGATGTTAATGCAGGATCTT GCTTTCCGTTTCTGAGATGTTAATGTGGGATCTTGCTGTCCATTTCCGAG ATGTTAATTGTGGATCTTGCTTTCCGTTTCCAAGATGTTACTGCGGGATC TTGCTTTCCGTTTCCGAGATGTTAATGTGGATCTTGCTTTCTGTTTCCGA GATGGTAATACGGGATCTTGCTGTCCGTTTCCGAGGTGTTAATGTGGGAT CTTGCTTTCCGTTTCCGAGATATTAATACGGGATCTTGCTGTCCATTTCC GATATGTTAATGTGGGATTTTGCTGTCCGTTTCCAAGATGTTAATGTGGA TCTTGCTTTCCATTTCCGAGATGTTAATGTGGGATCTTGCTGTCCATTTC CGATATGTTAATA		ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	15/28						chr19	TogoVar
C8orf82_chr8_144520733_144534111	144531192	G G	GAGCAGCA others(534): Show GAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGGCAGAAAGGCA GCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACG GCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCA CGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGG CACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGA CATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTA GACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGG GGAGTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGT GGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	398	0.0025	541	c.-22 others(552): Show c.-2277_-2276insTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCC CACTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAG CCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGC TATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCT GCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCC TTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGC CTTTCTGCCGTGCCTGCTGTGTCCAGTCCACACCCCACCTGCTGCTCCCT GCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCTTTCTGCCGTGCCTGCTGTGTCCAGTCCACACCCCACC TGCTGCT		C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding					2082		chr8	TogoVar
CAPN11_chr6_44153820_44189401	44181824	C C	CCACACAC others(534): Show CCACACACACACACACATACAGACACAACCACACCACACACACACACACA TACACACTCACATACAGACACAACCACACCACACTCACACACACACACGC TCACATACAGACACAACCACACCACACTCACACACACACACTCACATACA GACACAACCACACCACACCACACACACACACACTCACATACAGACACAAC CACACCACACTCACACACACACACACTCACATACAGACACAACCACACCA CACACACACACACTCACATACAGACACAACCACACCACACTCACACATAC ACACATACAGACACAACCACACCACACTCACACACACACACACTCACATA CAGACACAACCACACCACACTCACACACACACACTCACATACAGACACAA CCACACCACACTCACACACACACACAGACACAACCACACCACACACACAC ACACACACTCACATACAGACACAACCACACCACACACACACACACACAGA CACAACCACACCACACACACACACCCAACCACACCACACTCA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0334 a0003c0003t0003g0334	1	460	0.0022	541	c.193 others(558): Show c.1938+519_1938+520insATACAGACACAACCACACCACACACACA CACACATACACACTCACATACAGACACAACCACACCACACTCACACACAC ACACGCTCACATACAGACACAACCACACCACACTCACACACACACACTCA CATACAGACACAACCACACCACACCACACACACACACACTCACATACAGA CACAACCACACCACACTCACACACACACACACTCACATACAGACACAACC ACACCACACACACACACACTCACATACAGACACAACCACACCACACTCAC ACATACACACATACAGACACAACCACACCACACTCACACACACACACACT CACATACAGACACAACCACACCACACTCACACACACACACTCACATACAG ACACAACCACACCACACTCACACACACACACAGACACAACCACACCACAC ACACACACACACACTCACATACAGACACAACCACACCACACACACACACA CACAGACACAACCACACCACACACACACACCCAACCACACCACACTCACA CACACACACACAC		CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22					INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182078	A A	ACACACAT others(534): Show ACACACATACACACTCACATACAGACACAACCACACCACACTCACACACA CACACTCACATACAGACACAACCACACCACACTCACACACACACACTCAC ATACAGACACAACCACACCACACTCACACACACACACACACACTCACATA CAGACACAACCACACCACACTCACACACACACACACACTCACATACAGAC ACAACCACACCACACTCACACACACACACATACAGACACAACCACACCAC ACTCACACACACACACTCACATACAGACACAACCACACCACACTCACACA CACACATACACACTCACATACAGACACAACCACACCACACACACACATAC ACACTCACATACAGACACAACCACACCACACTCACACACACACACTCACA TACAGACACAACCACACCACACTCACACACACACACTCACATACAGACAC AACCACACCACACTCACACACACACACTCACATACAGACACAACCACACC ACACACACACACACTCACATACAGACACAACCACACCACACT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0399 a0001c0001t0002g0399	1	460	0.0022	541	c.193 others(558): Show c.1938+764_1938+765insTACACACTCACATACAGACACAACCACA CCACACTCACACACACACACTCACATACAGACACAACCACACCACACTCA CACACACACACTCACATACAGACACAACCACACCACACTCACACACACAC ACACACACTCACATACAGACACAACCACACCACACTCACACACACACACA CACTCACATACAGACACAACCACACCACACTCACACACACACACATACAG ACACAACCACACCACACTCACACACACACACTCACATACAGACACAACCA CACCACACTCACACACACACATACACACTCACATACAGACACAACCACAC CACACACACACATACACACTCACATACAGACACAACCACACCACACTCAC ACACACACACTCACATACAGACACAACCACACCACACTCACACACACACA CTCACATACAGACACAACCACACCACACTCACACACACACACTCACATAC AGACACAACCACACCACACACACACACACTCACATACAGACACAACCACA CCACACTCACACA		CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22					INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182087	T T	TACACACT others(534): Show TACACACTCACATACAGACACAACCACACCACACTCACACACACACACTC ACATACAGACACAACCACACCACACTCACACACACACACTCACATACAGA CACAACCACACCACACTCACACACACACACACACACTCACATACAGACAC AACCACACCACACTCACACACACACACACACTCACATACAGACACAACCA CACCACACTCACACACACACACACAGACACAACCACACCACACTCACACA CACACACTCACATACAGACACAACCACACCACACTCACACACACACATAC ACACTCACATACAGACACAACCACACCACACACACACATACACACTCACA TACAGACACAACCACACCACACTCACACACACACACTCACATACAGACAC AACCACACCACACTCACACACACACACTCACATACAGACACAACCACACC ACACTCACACACACACACTCACATACAGACACAACCACACCACACACACA CACACTCACATACAGACACAACCACACCACACTCACACACAC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0019 a0019	a0019c0022 a0019c0022	a0019c0022t0002 a0019c0022t0002	a0019c0022t0002g0310 a0019c0022t0002g0310	1	460	0.0022	541	c.193 others(558): Show c.1938+800_1938+801insTCACACACACACACTCACATACAGACAC AACCACACCACACTCACACACACACACTCACATACAGACACAACCACACC ACACTCACACACACACACACACACTCACATACAGACACAACCACACCACA CTCACACACACACACACACTCACATACAGACACAACCACACCACACTCAC ACACACACACACAGACACAACCACACCACACTCACACACACACACTCACA TACAGACACAACCACACCACACTCACACACACACATACACACTCACATAC AGACACAACCACACCACACACACACATACACACTCACATACAGACACAAC CACACCACACTCACACACACACACTCACATACAGACACAACCACACCACA CTCACACACACACACTCACATACAGACACAACCACACCACACTCACACAC ACACACTCACATACAGACACAACCACACCACACACACACACACTCACATA CAGACACAACCACACCACACTCACACACACACACACTCACATACAGACAC AACCACACCACAC		CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22					INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182087	T T	TACACACT others(534): Show TACACACTCACATACAGACACAACCACACCACACTCACACACACACACTC ACATACAGACACAACCACACCACACTCACACACACACACTCACATACAGA CACAACCACACCACACTCACACACACACACACACACTCACATACAGACAC AACCACACCACACTCACACACACACACACACTCACATACAGACACAACCA CACCACACTCACACACACACACATACAGACACAACCACACCACACTCACA CACACACACTCACATACAGACACAACCACACCACACTCACACACACACAT ACACACTCACATACAGACACAACCACACCACACACACACATACACACTCA CATACAGACACAACCACACCACACTCACACACACACACTCACATACAGAC ACAACCACACCACACTCACACACACACACTCACATACAGACACAACCACA CCACACTCACACACACACACTCACATACAGACACAACCACACCACACACA CACACACTCACATACAGACACAACCACACCACACTCACACAC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0402 a0001c0001t0002g0402	1	460	0.0022	541	c.193 others(558): Show c.1938+800_1938+801insTCACACACACACACTCACATACAGACAC AACCACACCACACTCACACACACACACTCACATACAGACACAACCACACC ACACTCACACACACACACACACACTCACATACAGACACAACCACACCACA CTCACACACACACACACACTCACATACAGACACAACCACACCACACTCAC ACACACACACATACAGACACAACCACACCACACTCACACACACACACTCA CATACAGACACAACCACACCACACTCACACACACACATACACACTCACAT ACAGACACAACCACACCACACACACACATACACACTCACATACAGACACA ACCACACCACACTCACACACACACACTCACATACAGACACAACCACACCA CACTCACACACACACACTCACATACAGACACAACCACACCACACTCACAC ACACACACTCACATACAGACACAACCACACCACACACACACACACTCACA TACAGACACAACCACACCACACTCACACACACACACTCACATACAGACAC AACCACACCACAC		CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22					INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182087	T T	TACACACT others(534): Show TACACACTCACATACAGACACAACCACACCACACTCACACACACACACTC ACATACAGACACAACCACACCACACTCACACACACACACTCACATACAGA CACAACCACACCACACTCACACACACACACACACACTCACATACAGACAC AACCACACCACACTCACACACACACACACACTCACATACAGACACAACCA CACCACACTCACACACACACACATACAGACACAACCACACCACACTCACA CACACACACTCACATACAGACACAACCACACCACACTCACACACACACAT ACACACTCACATACAGACACAACCACACCACACACACACATACACACTCA CATACAGACACAACCACACCACACTCACACACACACACTCACATACAGAC ACAACCACACCACACTCACACACACACACTCACATACAGACACAACCACA CCACACTCACACACACACACTCACATACAGACACAACCACACCACACACA CACACTCACATACAGACACAACCACACCACACTCACACACAC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01978.hp1 HG01975.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0408 a0001c0001t0002g0395 a0001c0001t0001g0408 a0001c0001t0002g0395	2	460	0.0044	541	c.193 others(558): Show c.1938+800_1938+801insTCACACACACACACTCACATACAGACAC AACCACACCACACTCACACACACACACTCACATACAGACACAACCACACC ACACTCACACACACACACACACACTCACATACAGACACAACCACACCACA CTCACACACACACACACACTCACATACAGACACAACCACACCACACTCAC ACACACACACATACAGACACAACCACACCACACTCACACACACACACTCA CATACAGACACAACCACACCACACTCACACACACACATACACACTCACAT ACAGACACAACCACACCACACACACACATACACACTCACATACAGACACA ACCACACCACACTCACACACACACACTCACATACAGACACAACCACACCA CACTCACACACACACACTCACATACAGACACAACCACACCACACTCACAC ACACACACTCACATACAGACACAACCACACCACACACACACACTCACATA CAGACACAACCACACCACACTCACACACACACACACTCACATACAGACAC AACCACACCACAC		CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22					INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182087	T T	TACACACT others(534): Show TACACACTCACATACAGACACAACCACACCACACTCACACACACACACTC ACATACAGACACAACCACACCACACTCACACACACACACTCACATACAGA CACAACCACACCACACTCACACACACACACACACTCACATACAGACACAA CCACACCACACTCACACACACACACACACTCACATACAGACACAACCACA CCACACTCACACACACACACATACAGACACAACCACACCACACTCACACA CACACACTCACATACAGACACAACCACACCACACTCACACACACACATAC ACACTCACATACAGACACAACCACACCACACACACACATACACACTCACA TACAGACACAACCACACCACACTCACACACACACACTCACATACAGACAC AACCACACCACACTCACACACACACACTCACATACAGACACAACCACACC ACACTCACACACACACACTCACATACAGACACAACCACACCACACACACA CACACTCACATACAGACACAACCACACCACACTCACACACAC	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0403 a0001c0001t0001g0403	1	460	0.0022	541	c.193 others(558): Show c.1938+800_1938+801insTCACACACACACACTCACATACAGACAC AACCACACCACACTCACACACACACACTCACATACAGACACAACCACACC ACACTCACACACACACACACACTCACATACAGACACAACCACACCACACT CACACACACACACACACTCACATACAGACACAACCACACCACACTCACAC ACACACACATACAGACACAACCACACCACACTCACACACACACACTCACA TACAGACACAACCACACCACACTCACACACACACATACACACTCACATAC AGACACAACCACACCACACACACACATACACACTCACATACAGACACAAC CACACCACACTCACACACACACACTCACATACAGACACAACCACACCACA CTCACACACACACACTCACATACAGACACAACCACACCACACTCACACAC ACACACTCACATACAGACACAACCACACCACACACACACACACTCACATA CAGACACAACCACACCACACTCACACACACACACACTCACATACAGACAC AACCACACCACAC		CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22					INFO_REALIGN_3_PRIME	chr6	TogoVar
CBFA2T3_chr16_88869858_88982207	88894454	G G	GCACACAT others(534): Show GCACACATGCACACACACATGCATACATATACACATGCACACAATGTACA CACATGCACGCACACATGCACACACACATGCATACATATACACATGCACA CAATGTACACACATGCACGCACACATGCACACACACATGCATACATATAC ACATGCACACAATGTACACACATGCACGCACACATGCACACACACATGCA TACATATACACATGCACACAATGTACACACATGCACGCACACATGCACAC ACACATGCATACATATACACATGCACACAATGTACACACATGCACGCACA CATGCACACACATGCATACATATACACATGCACACAATGTACACACATGC ACGCACACATGCACACACACATGCATACATATACACATGCACACAATGTA CACACATGCACGCACACATGCACACACACATGCATACATATACACATGCA CACAATGTACACACATGCACGCACACATGCACACACACATGCATACATAT ACACATGCACACAATGTACACACATGCACGCACACATGCACA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	284	0.0035	541	c.380 others(558): Show c.380-1970_380-1969insTGTGCATGTGTGCGTGCATGTGTGTACA TTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGTGCAT GTGTGTACATTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTG TGCGTGCATGTGTGTACATTGTGTGCATGTGTATATGTATGCATGTGTGT GTGCATGTGTGCGTGCATGTGTGTACATTGTGTGCATGTGTATATGTATG CATGTGTGTGCATGTGTGCGTGCATGTGTGTACATTGTGTGCATGTGTAT ATGTATGCATGTGTGTGTGCATGTGTGCGTGCATGTGTGTACATTGTGTG CATGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGTGCATGTGTGTA CATTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATGTGTGCGTGC ATGTGTGTACATTGTGTGCATGTGTATATGTATGCATGTGTGTGTGCATG TGTGCGTGCATGTGTGTACATTGTGTGCATGTGTATATGTATGCATGTGT GTGTGCATGTGTG		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	3/11						chr16	TogoVar
CCDC187_chr9_136244973_136309094	136251862	G G	GGTCCACC others(534): Show GGTCCACCCCGGGAAGGTCCAGGCGACCGTCCCGCGGAGCCGGCCGCCCA CCTGGTCCACCCTGGGAAGAGCCGGCCGCCCACCCAGTCCACCCCGGGAA GGTCCAGGCGACCGTCCCGCGGAGCCGGCCGCCCACCTGGTCCACCCTGG GAAGAGCCGGCCGCCCACCCAGTCCACCCCGGGAAGGTCCAGGCGACCGT CCCGCGGAGCCGGCCGCCCACCTGGTCCACCCTGGGAAGAGCCGGCCGCC CACCCAGTCCACCCTGGGAAGGTCCAGGCAACCATCCCGCACAGCCGGCC GCCCACCCCGTCCACCAGGGGAAGGTCCAGGCGACCGTCCCGCAGAGCCG GCGCCCACCCTGTCCACCAGGGGAAGAGCCGGCCGCCCACCCGGTCCACC CCGGGAAGAGCCGGCCGCCCACCCGGCCCACCCTGGGAAGAGCCGGCCGC CCACCCAGTCCACCCCGGGAAGGTCCAGGCGACCGTCCTGCGGAGCCGGC CGCCCACCTGGTCCACCCTGGGAAGAGCCGGCCGCCCACCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0097 a0011c0017t0097	a0011c0017t0097g0352 a0011c0017t0097g0352	1	400	0.0025	541	c.17 others(552): Show c.1731_*1732insTGGGTGGGCGGCCGGCTCTTCCCAGGGTGGACCA GGTGGGCGGCCGGCTCCGCAGGACGGTCGCCTGGACCTTCCCGGGGTGGA CTGGGTGGGCGGCCGGCTCTTCCCAGGGTGGGCCGGGTGGGCGGCCGGCT CTTCCCGGGGTGGACCGGGTGGGCGGCCGGCTCTTCCCCTGGTGGACAGG GTGGGCGCCGGCTCTGCGGGACGGTCGCCTGGACCTTCCCCTGGTGGACG GGGTGGGCGGCCGGCTGTGCGGGATGGTTGCCTGGACCTTCCCAGGGTGG ACTGGGTGGGCGGCCGGCTCTTCCCAGGGTGGACCAGGTGGGCGGCCGGC TCCGCGGGACGGTCGCCTGGACCTTCCCGGGGTGGACTGGGTGGGCGGCC GGCTCTTCCCAGGGTGGACCAGGTGGGCGGCCGGCTCCGCGGGACGGTCG CCTGGACCTTCCCGGGGTGGACTGGGTGGGCGGCCGGCTCTTCCCAGGGT GGACCAGGTGGGCGGCCGGCTCCGCGGGACGGTCGCCTGGACCTTCCCGG GGTGGAC		CCDC187	ENSG00000260220.7	transcript	ENST00000638797.2	protein_coding	26/26				1731		chr9	TogoVar
CCDC6_chr10_59783747_59911556	59882253	G G	GGAAAGCC others(534): Show GGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAA AGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGG CGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCGCGGGG AGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGG AAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGA AAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGCCG GCGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCAGGGG GAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAGCCGGCGGGAGA AGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAA GGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAA AGCCGGCGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAA	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	288	0.0035	541	c.303 others(560): Show c.303+23868_303+23869insTTTCCTTCTCCCGCCGGCTTTCCTTT CCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTT CTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCC CCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCTGG CTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCGCCGGCTTT CCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTT TCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTC CCCGCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCG GCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCCGGCTT TCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCT TTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTT CTCCCCCTGGCTTTC		CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8						chr10	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(534): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCT CTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCC CCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCC CCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	256	0.0039	541	c.-45 others(562): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCC TCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCC CTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCC TCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCC TCTCCCCTCCCCTCCCC		CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(534): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCT CTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCC CCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCC CCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	256	0.0039	541	c.-45 others(562): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCC CTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCC TCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCC TCTCCCCTCCCCTCCCC		CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
CDH4_chr20_61247261_61945617	61920102	T T	TGTGATTG others(534): Show TGTGATTGTGTGGAAGCGTGGTGTGATTGTGTGGAAGCATGGTATCGTGA TTGTGGAAGCGTGGTATCGCGGCGATTGTGTGGAAGCGTGGTGTCGCAGT GATTGCGTGGAAGCATGTTGTGATTGTGTGGAAGCGTGGTATCGTGATTG TGTGGAAGCATGGTGTCGTGATTGTGTGGAAGCATGTCGTGATTGTGTGG AAGTGTGATGTCACGGTGATTGCGTGGAAGCATGTTGTGATTGTGTGGAA GCGTGGTATCGTGATTGGAAGTGTGGTGTCACGCTGATTGCATGGAAGCG TGTTGTGATTGTGTGGAAGCGTGATATCGCAGTGATTGTGTGGAAGCGTG GTGTCACGGTGATTGTGTGGAAGCGTGGTGTCACGGTGATTGCGTGGAAG CGTGTTGTGATTGTGTGGAAGCGTGGTATCGTGATTGGAAGCGTGGTGTT GCGGTGATTGCATGGAAGCATGTTGTGATTGTGTGGAAGCATGGTATCGT GATTGTCTGGAAGCATGGTGTCATGGTGATTGGAAGTGTGTC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0029 a0001c0006t0029	a0001c0006t0029g0035 a0001c0006t0029g0035	1	106	0.0094	541	c.137 others(560): Show c.1375-3342_1375-3341insTGTGGAAGCGTGGTGTGATTGTGTGG AAGCATGGTATCGTGATTGTGGAAGCGTGGTATCGCGGCGATTGTGTGGA AGCGTGGTGTCGCAGTGATTGCGTGGAAGCATGTTGTGATTGTGTGGAAG CGTGGTATCGTGATTGTGTGGAAGCATGGTGTCGTGATTGTGTGGAAGCA TGTCGTGATTGTGTGGAAGTGTGATGTCACGGTGATTGCGTGGAAGCATG TTGTGATTGTGTGGAAGCGTGGTATCGTGATTGGAAGTGTGGTGTCACGC TGATTGCATGGAAGCGTGTTGTGATTGTGTGGAAGCGTGATATCGCAGTG ATTGTGTGGAAGCGTGGTGTCACGGTGATTGTGTGGAAGCGTGGTGTCAC GGTGATTGCGTGGAAGCGTGTTGTGATTGTGTGGAAGCGTGGTATCGTGA TTGGAAGCGTGGTGTTGCGGTGATTGCATGGAAGCATGTTGTGATTGTGT GGAAGCATGGTATCGTGATTGTCTGGAAGCATGGTGTCATGGTGATTGGA AGTGTGTCGTGATTG		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	9/15					INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61920102	T T	TGTGATTG others(534): Show TGTGATTGTGTGGAAGCGTGGTGTGATTGTGTGGAAGCATGGTATCGTGA TTGTGGAAGCGTGGTATCGCGGCGATTGTGTGGAAGCGTGGTGTCGCAGT GATTGCGTGGAAGCATGTTGTGATTGTGTGGAAGCGTGGTATCGTGATTG TGTGGAAGCATGGTGTCGTGATTGTGTGGAAGCATGTCGTGATTGTGTGG AAGTGTGATGTCACGGTGATTGCGTGGAAGCGTGTTGTGATTGTGTGGAA GCGTGGTATCGTGATTGGAAGTGTGGTGTCACGCTGATTGCATGGAAGCA TGTTGTGATTGTGTGGAAGCGTGATATCGCAGTGATTGTGTGGAAGCGTG GTGTCACGGTGATTGTGTGGAAGCGTGGTGTCACGGTGATTGCGTGGAAG CGTGTTGTGATTGTGTGGAAGCGTGGTATCGTGATCGGAAGCGTGGTGTT GCGGTGATTGCATGGAAGCATGTTGTGATTGTGTGGAAGCATGGTATCGT GATTGTCTGGAAGCATGGTGTCATGGTGATTGGAAGTGTGTC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01243.hp1 HG02257.hp2 others(4): Show HG01081.hp1 HG01243.hp1 HG02257.hp2 HG02451.hp1 HG02559.hp2 HG02895.hp2 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0002c0014 a0001c0003 a0002c0004 a0002c0014	a0001c0003t0032 a0002c0004t0003 a0002c0004t0033 others(1): Show a0001c0003t0032 a0002c0004t0003 a0002c0004t0033 a0002c0014t0003	a0001c0003t0032g0040 a0002c0004t0003g0010 a0002c0004t0003g0011 others(4): Show a0001c0003t0032g0040 a0002c0004t0003g0010 a0002c0004t0003g0011 a0002c0004t0003g0034 a0002c0004t0003g0093 a0002c0004t0033g0095 a0002c0014t0003g0090	7	106	0.0660	541	c.137 others(560): Show c.1375-3342_1375-3341insTGTGGAAGCGTGGTGTGATTGTGTGG AAGCATGGTATCGTGATTGTGGAAGCGTGGTATCGCGGCGATTGTGTGGA AGCGTGGTGTCGCAGTGATTGCGTGGAAGCATGTTGTGATTGTGTGGAAG CGTGGTATCGTGATTGTGTGGAAGCATGGTGTCGTGATTGTGTGGAAGCA TGTCGTGATTGTGTGGAAGTGTGATGTCACGGTGATTGCGTGGAAGCGTG TTGTGATTGTGTGGAAGCGTGGTATCGTGATTGGAAGTGTGGTGTCACGC TGATTGCATGGAAGCATGTTGTGATTGTGTGGAAGCGTGATATCGCAGTG ATTGTGTGGAAGCGTGGTGTCACGGTGATTGTGTGGAAGCGTGGTGTCAC GGTGATTGCGTGGAAGCGTGTTGTGATTGTGTGGAAGCGTGGTATCGTGA TCGGAAGCGTGGTGTTGCGGTGATTGCATGGAAGCATGTTGTGATTGTGT GGAAGCATGGTATCGTGATTGTCTGGAAGCATGGTGTCATGGTGATTGGA AGTGTGTCGTGATTG		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	9/15					INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61920102	T T	TGTGATTG others(534): Show TGTGATTGTGTGGAAGCGTGGTGTGATTGTGTGGAAGCATGGTATCGTGA TTGTGGAAGCGTGGTATCGCGGCGATTGTGTGGAAGCGTGGTGTCGCAGT GATTGCGTGGAAGCATGTTGTGATTGTGTGGAAGCGTGGTATCGTGATTG TGTGGAAGCATGGTGTCGTGATTGTGTGGAAGCATGTCGTGATTGTGTGG AAGTGTGATGTCACGGTGATTGCGTGGAAGCGTGTTGTGATTGTGTGGAA GCGTGGTATCGTGATTGGAAGTGTGGTGTCACGCTGATTGCATGGAAGCG TGTTGTGATTGTGTGGAAGCGTGATATCGCAGTGATTGTGTGGAAGCGTG GTGTCACGGTGATTGTGTGGAAGCGTGGTGTCACGGTGATTGCGTGGAAG CGTGTTGTGATTGTGTGGAAGCGTGGTATCGTGATCGGAAGCGTGGTGTT GCGGTGATTGCATGGAAGCATGTTGTGATTGTGTGGAAGCATGGTATCGT GATTGTCTGGAAGCATGGTGTCATGGTGATTGGAAGTGTGTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00738.hp2 HG01106.hp1 others(27): Show HG00408.hp1 HG00738.hp2 HG01106.hp1 HG01884.hp1 HG01978.hp1 HG02055.hp1 HG02148.hp2 HG02451.hp2 HG02559.hp1 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02809.hp2 HG02895.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03704.hp2 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18941.hp1 NA19030.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0006 others(9): Show a0001c0001 a0001c0003 a0001c0006 a0001c0010 a0001c0012 a0001c0013 a0001c0021 a0001c0023 a0002c0004 a0002c0009 a0003c0017 a0003c0018	a0001c0001t0001 a0001c0001t0009 a0001c0001t0018 others(23): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0018 a0001c0001t0028 a0001c0001t0051 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0036 a0001c0003t0037 a0001c0003t0043 a0001c0006t0006 a0001c0006t0021 a0001c0010t0009 a0001c0012t0001 a0001c0013t0006 a0001c0021t0008 a0001c0023t0044 a0002c0004t0002 a0002c0004t0013 a0002c0004t0026 a0002c0004t0027 a0002c0009t0034 a0002c0009t0035 a0003c0017t0002 a0003c0018t0045	a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0009g0013 others(27): Show a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0009g0013 a0001c0001t0009g0019 a0001c0001t0018g0031 a0001c0001t0028g0016 a0001c0001t0051g0083 a0001c0003t0001g0020 a0001c0003t0001g0038 a0001c0003t0002g0002 a0001c0003t0005g0054 a0001c0003t0036g0043 a0001c0003t0037g0023 a0001c0003t0043g0081 a0001c0006t0006g0029 a0001c0006t0021g0004 a0001c0010t0009g0045 a0001c0012t0001g0008 a0001c0013t0006g0036 a0001c0021t0008g0047 a0001c0023t0044g0084 a0002c0004t0002g0001 a0002c0004t0002g0080 a0002c0004t0013g0021 a0002c0004t0026g0050 a0002c0004t0027g0098 a0002c0009t0034g0009 a0002c0009t0035g0026 a0003c0017t0002g0053 a0003c0018t0045g0052	30	106	0.2830	541	c.137 others(560): Show c.1375-3342_1375-3341insTGTGGAAGCGTGGTGTGATTGTGTGG AAGCATGGTATCGTGATTGTGGAAGCGTGGTATCGCGGCGATTGTGTGGA AGCGTGGTGTCGCAGTGATTGCGTGGAAGCATGTTGTGATTGTGTGGAAG CGTGGTATCGTGATTGTGTGGAAGCATGGTGTCGTGATTGTGTGGAAGCA TGTCGTGATTGTGTGGAAGTGTGATGTCACGGTGATTGCGTGGAAGCGTG TTGTGATTGTGTGGAAGCGTGGTATCGTGATTGGAAGTGTGGTGTCACGC TGATTGCATGGAAGCGTGTTGTGATTGTGTGGAAGCGTGATATCGCAGTG ATTGTGTGGAAGCGTGGTGTCACGGTGATTGTGTGGAAGCGTGGTGTCAC GGTGATTGCGTGGAAGCGTGTTGTGATTGTGTGGAAGCGTGGTATCGTGA TCGGAAGCGTGGTGTTGCGGTGATTGCATGGAAGCATGTTGTGATTGTGT GGAAGCATGGTATCGTGATTGTCTGGAAGCATGGTGTCATGGTGATTGGA AGTGTGTCGTGATTG		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	9/15					INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61920102	T T	TGTGATTG others(534): Show TGTGATTGTGTGGAAGCGTGGTGTGATTGTGTGGAAGCATGGTATCGTGA TTGTGGAAGCGTGGTATCGCGGCGATTGTGTGGAAGCGTGGTGTCGCAGT GATTGCGTGGAAGCATGTTGTGATTGTGTGGAAGCGTGGTATCGTGATTG TGTGGAAGCATGGTGTCGTGATTGTGTGGAAGCATGTCGTGATTGTGTGG AAGTGTGATGTCACGGTGATTGCGTGGAAGCGTGTTGTGATTGTGTGGAA GCGTGGTATCGTGATTGGAAGTGTGGTGTCACGCTGATTGCATGGAAGCG TGTTGTGATTGTGTGGAAGCGTGATATCGCAGTGATTGTGTGGAAGCGTG GTGTCACGGTGATTGTGTGGAAGCGTGGTGTCACGGTGATTGCGTGGAAG CGTGTTGTGATTGTGTGGAAGCGTGGTATCGTGATTGGAAGCGTGGTGTT GCGGTGATTGCATGGAAGCATGTTGTGATTGTGTGGAAGCATGGTATCGT GATTGTCTGGAAGCATGGTGTCATGGTGATTGGAAGTGTGTC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02809.hp1 HG02922.hp2 others(4): Show HG02622.hp2 HG02809.hp1 HG02922.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0001c0020	a0001c0001t0019 a0001c0003t0017 a0001c0003t0052 others(4): Show a0001c0001t0019 a0001c0003t0017 a0001c0003t0052 a0001c0003t0053 a0001c0003t0054 a0001c0006t0049 a0001c0020t0006	a0001c0001t0019g0091 a0001c0003t0017g0067 a0001c0003t0052g0064 others(4): Show a0001c0001t0019g0091 a0001c0003t0017g0067 a0001c0003t0052g0064 a0001c0003t0053g0074 a0001c0003t0054g0086 a0001c0006t0049g0071 a0001c0020t0006g0094	7	106	0.0660	541	c.137 others(560): Show c.1375-3342_1375-3341insTGTGGAAGCGTGGTGTGATTGTGTGG AAGCATGGTATCGTGATTGTGGAAGCGTGGTATCGCGGCGATTGTGTGGA AGCGTGGTGTCGCAGTGATTGCGTGGAAGCATGTTGTGATTGTGTGGAAG CGTGGTATCGTGATTGTGTGGAAGCATGGTGTCGTGATTGTGTGGAAGCA TGTCGTGATTGTGTGGAAGTGTGATGTCACGGTGATTGCGTGGAAGCGTG TTGTGATTGTGTGGAAGCGTGGTATCGTGATTGGAAGTGTGGTGTCACGC TGATTGCATGGAAGCGTGTTGTGATTGTGTGGAAGCGTGATATCGCAGTG ATTGTGTGGAAGCGTGGTGTCACGGTGATTGTGTGGAAGCGTGGTGTCAC GGTGATTGCGTGGAAGCGTGTTGTGATTGTGTGGAAGCGTGGTATCGTGA TTGGAAGCGTGGTGTTGCGGTGATTGCATGGAAGCATGTTGTGATTGTGT GGAAGCATGGTATCGTGATTGTCTGGAAGCATGGTGTCATGGTGATTGGA AGTGTGTCGTGATTG		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	9/15					INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61920102	T T	TGTGATTG others(534): Show TGTGATTGTGTGGAAGCGTGGTGTGATTGTGTGGAAGCATGGTATCGTGA TTGTGGAAGCGTGGTATCGCGGCGATTGTGTGGAAGCGTGGTGTCGCAGT GATTGCGTGGAAGCATGTTGTGATTGTGTGGAAGCGTGGTATCGTGATTG TGTGGAAGCATGGTGTCGTGATTGTGTGGAAGCATGTCGTGATTGTGTGG AAGTGTGATGTCACGGTGATTGCGTGGAAGCGTGTTGTGATTGTGTGGAA GCGTGGTATCGTGATTGGAAGTGTGGTGTCACGCTGATTGCATGGAAGTG TGTTGTGATTGTGTGGAAGCGTGATATCGCAGTGATTGTGTGGAAGCGTG GTGTCACGGTGATTGTGTGGAAGCGTGGTGTCACGGTGATTGCGTGGAAG CGTGTTGTGATTGTGTGGAAGCGTGGTATCGTGATCGGAAGCGTGGTGTT GCGGTGATTGCATGGAAGCATGTTGTGATTGTGTGGAAGCATGGTATCGT GATTGTCTGGAAGCATGGTGTCATGGTGATTGGAAGTGTGTC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(50): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01243.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01978.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02622.hp1 HG02647.hp1 HG02723.hp2 HG02965.hp1 HG02965.hp2 HG03225.hp1 HG03453.hp2 HG03579.hp2 HG03704.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 NA18906.hp2 NA18941.hp2 NA18952.hp1 NA18952.hp2 NA18960.hp1 NA19030.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0010 a0001c0011 others(9): Show a0001c0001 a0001c0010 a0001c0011 a0001c0022 a0002c0002 a0002c0005 a0002c0008 a0002c0015 a0002c0016 a0002c0024 a0002c0026 a0004c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0014 a0001c0001t0018 a0001c0001t0031 a0001c0001t0040 a0001c0001t0048 a0001c0001t0050 a0001c0010t0001 a0001c0011t0008 a0001c0022t0042 a0002c0002t0004 a0002c0002t0005 a0002c0002t0012 a0002c0002t0013 a0002c0002t0014 a0002c0002t0016 a0002c0002t0022 a0002c0002t0023 a0002c0002t0039 a0002c0002t0041 a0002c0005t0002 a0002c0005t0007 a0002c0005t0015 a0002c0005t0020 a0002c0005t0024 a0002c0005t0030 a0002c0008t0001 a0002c0008t0004 a0002c0008t0025 a0002c0015t0007 a0002c0016t0004 a0002c0024t0047 a0002c0026t0015 a0004c0019t0001	a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0046 others(50): Show a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0002g0007 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0076 a0001c0001t0002g0088 a0001c0001t0011g0005 a0001c0001t0011g0033 a0001c0001t0014g0106 a0001c0001t0018g0039 a0001c0001t0031g0089 a0001c0001t0040g0055 a0001c0001t0048g0085 a0001c0001t0050g0063 a0001c0010t0001g0027 a0001c0011t0008g0003 a0001c0011t0008g0101 a0001c0022t0042g0072 a0002c0002t0004g0068 a0002c0002t0004g0070 a0002c0002t0004g0077 a0002c0002t0005g0014 a0002c0002t0005g0022 a0002c0002t0005g0096 a0002c0002t0012g0082 a0002c0002t0012g0104 a0002c0002t0013g0017 a0002c0002t0014g0062 a0002c0002t0016g0073 a0002c0002t0016g0075 a0002c0002t0022g0105 a0002c0002t0023g0102 a0002c0002t0039g0058 a0002c0002t0041g0087 a0002c0005t0002g0061 a0002c0005t0007g0097 a0002c0005t0007g0100 a0002c0005t0015g0069 a0002c0005t0020g0056 a0002c0005t0024g0048 a0002c0005t0030g0103 a0002c0008t0001g0028 a0002c0008t0004g0041 a0002c0008t0025g0024 a0002c0015t0007g0025 a0002c0016t0004g0042 a0002c0024t0047g0051 a0002c0026t0015g0079 a0004c0019t0001g0015	53	106	0.5000	541	c.137 others(560): Show c.1375-3342_1375-3341insTGTGGAAGCGTGGTGTGATTGTGTGG AAGCATGGTATCGTGATTGTGGAAGCGTGGTATCGCGGCGATTGTGTGGA AGCGTGGTGTCGCAGTGATTGCGTGGAAGCATGTTGTGATTGTGTGGAAG CGTGGTATCGTGATTGTGTGGAAGCATGGTGTCGTGATTGTGTGGAAGCA TGTCGTGATTGTGTGGAAGTGTGATGTCACGGTGATTGCGTGGAAGCGTG TTGTGATTGTGTGGAAGCGTGGTATCGTGATTGGAAGTGTGGTGTCACGC TGATTGCATGGAAGTGTGTTGTGATTGTGTGGAAGCGTGATATCGCAGTG ATTGTGTGGAAGCGTGGTGTCACGGTGATTGTGTGGAAGCGTGGTGTCAC GGTGATTGCGTGGAAGCGTGTTGTGATTGTGTGGAAGCGTGGTATCGTGA TCGGAAGCGTGGTGTTGCGGTGATTGCATGGAAGCATGTTGTGATTGTGT GGAAGCATGGTATCGTGATTGTCTGGAAGCATGGTGTCATGGTGATTGGA AGTGTGTCGTGATTG		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	9/15					INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(534): Show TTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCT TCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCT CCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCT CCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTC CCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCT TCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCC TCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCT CCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCC CTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTC CCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTC CTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp1 NA18984.hp1 NA19077.hp1 NA18980.hp1 NA18984.hp1 NA19077.hp1	a0002 a0008 a0002 a0008	a0002c0001 a0008c0017 a0002c0001 a0008c0017	a0002c0001t0002 a0008c0017t0002 a0002c0001t0002 a0008c0017t0002	a0002c0001t0002g0016 a0002c0001t0002g0053 a0008c0017t0002g0016 a0002c0001t0002g0016 a0002c0001t0002g0053 a0008c0017t0002g0016	3	354	0.0085	541	c.69 others(552): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCG TCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCT TCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTC CCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCT TCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCC CTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCC CTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCC CTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTC CCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTC CTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTT TCCTTTC		CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding					4830		chr9	TogoVar
COL19A1_chr6_69861556_70217468	69920974	G G	GTATATTC others(534): Show GTATATTCATATATATATTCATATGTATATTCATATATATGATATATATC ATATATACATATGATATATACATGATATATATGATATATATGATATATAT GATATATATATGATATATATGATACATATGATATATATGATATATATATG ATACAAATGATATATATGATATATATGATATATATCAGATATATATATCA TATATATCATATATATCATTTGTATCATATATATATCATATATATCATAT GTATCATATATATCATGTATATATCATATATATCATATATATCATATATG TATTCATATATATCATATATATTCATATATCATATATATTCATATATATC ATATATTCATATATATCATATATATTCATATATATCATATATTCATATAT ATCATATATATTCATATATATATCATATATATTCATATATATATCATATA TATTCATATATATATCATATATATTCATATATATATCATATATATTCATA TATATATCATATATATTCATATATATATCATATATATTCATA	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0033 a0001c0007t0033	a0001c0007t0033g0120 a0001c0007t0033g0120	1	182	0.0055	541	c.267 others(558): Show c.267-6912_267-6911insGTATATTCATATATATGATATATATCAT ATATACATATGATATATACATGATATATATGATATATATGATATATATGA TATATATATGATATATATGATACATATGATATATATGATATATATATGAT ACAAATGATATATATGATATATATGATATATATCAGATATATATATCATA TATATCATATATATCATTTGTATCATATATATATCATATATATCATATGT ATCATATATATCATGTATATATCATATATATCATATATATCATATATGTA TTCATATATATCATATATATTCATATATCATATATATTCATATATATCAT ATATTCATATATATCATATATATTCATATATATCATATATTCATATATAT CATATATATTCATATATATATCATATATATTCATATATATATCATATATA TTCATATATATATCATATATATTCATATATATATCATATATATTCATATA TATATCATATATATTCATATATATATCATATATATTCATATATATTCATA TATATATTCATAT		COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50					INFO_REALIGN_3_PRIME	chr6	TogoVar
COL6A1_chr21_45976770_46010048	45990459	A A	AGGAGGGA others(534): Show AGGAGGGACGGGGAGGGATGGGGTGGACAGCGTGAAGGTGACCGGGGAGG GATGGGGTGGACAGTGTGAAGGTGAACCAGGGGAAGGACGGGGAGGGACG GGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTG ACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGGAAGGAC GGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGGACG GCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACCA GGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGAC GGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGGGGTGGACAGTGTGA AGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATG GGGAGGGACGGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGT GGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0017 a0001c0003t0002g0017	1	128	0.0078	541	c.100 others(556): Show c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGCGTGAA GGTGACCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGAACCAGGGGAAG GACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAGGGACGGAGTGG ACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAGTGTGAAGGTGA CCAGGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCGAGATGGGGAG GGACGGAGTGGACGGCGTGAAGGTGACCCGGGGAGGGATGGGGTGGACAG TGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGGGATGGGGCG AGATGGGGAGGGACGGAGTGGACGGCGTGAAGGTGACCGGGGAGGGATGG GGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAGGGACGGGGAGG GATGGGGCGAGATGGGGAGGGACGGGAGTGGACGGCGTGAAGGTGACCCG GGGAGGGATGGGGTGGACAGTGTGAAGGTGACCAGGGGAAGGACGGGGAG GGACGGGGAGG		COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	13/34					INFO_REALIGN_3_PRIME	chr21	TogoVar
CPNE7_chr16_89570758_89602246	89597938	C C	CCCCCGCC others(534): Show CCCCCGCCCACCCATCTGTCCACCCATCCATCCATCCATCCCCCCACCCA CCCATCTGTCCACCCATCCGTCCACCCATCCCCCCACCCACCCATCCGTC CACCCATCCGTCCACCCGTCCGTCCATCCATCCCCCCGCCCACCCATCTG TCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATC CCCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCA CCCATCCGTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCATC CATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCACCTG TCCACCCATCTGTCCACCCATCCCCCCACCCACCCGTCCGTCCATCCATC CCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCA CCCATCTGTCCACCCATCCCCCCACCCATCCGTCCACCCATCCATCCACT CACCCATCCGTCCACTCACCCATCTGTCCACCCATTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	348	0.0029	541	c.13 others(552): Show c.1317_*1318insCCCCGCCCACCCATCTGTCCACCCATCCATCCAT CCATCCCCCCACCCACCCATCTGTCCACCCATCCGTCCACCCATCCCCCC ACCCACCCATCCGTCCACCCATCCGTCCACCCGTCCGTCCATCCATCCCC CCGCCCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCC ATCTGTCCACCCATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGT CCACCCATCTGTCCACCCATCCGTCCACCCATCCATCCACCCATCCCCCC ACCCACCCATCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCC CCACCCACCCACCTGTCCACCCATCTGTCCACCCATCCCCCCACCCACCC GTCCGTCCATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCAC CCACCCATCTGTCCACCCATCTGTCCACCCATCCCCCCACCCATCCGTCC ACCCATCCATCCACTCACCCATCCGTCCACTCACCCATCTGTCCACCCAT TCCCCCG		CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding					693		chr16	TogoVar
CROCC2_chr2_240901336_240998311	240923766	G G	GCCCCCAC others(534): Show GCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTAACCC GGCCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTA ACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACT AACCCAGCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACAC TGACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCA CACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCC CACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCGGC CCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCG GCCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAA CCCGGCCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCCACACT AACCCAGCCCCCACACTAACCCAGTCCCCACACTAACCCAGC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0265 a0003c0003t0002g0265	1	350	0.0029	541	c.488 others(558): Show c.488+1188_488+1189insAGCCCCCCACACTAACCCGGCCCCCCAC ACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCA CACTAACCCAGCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCC ACACTGACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCC CCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTGACCCAG CCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACC CGGCCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAA CCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACA CTAACCCGGCCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCCA CACTAACCCAGCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCC CACACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCC CCCACACTAACCC		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240923984	A A	AACCCGGC others(534): Show AACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCA CACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCC CACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGT CCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCA GCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTGAC CCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTA ACCCAGTCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCACAC TAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCA CACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCC CACACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCC CCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp2 HG01168.hp1 others(1): Show HG00323.hp2 HG00733.hp2 HG01168.hp1 HG02055.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0001 a0003c0003t0002	a0003c0003t0001g0011 a0003c0003t0002g0237 a0003c0003t0002g0256 others(1): Show a0003c0003t0001g0011 a0003c0003t0002g0237 a0003c0003t0002g0256 a0003c0003t0002g0258	4	350	0.0114	541	c.489 others(558): Show c.489-1489_489-1488insAGCCCCCACACTAACCCGGCCCCCCACA CTAACCCAGCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCCA CACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCC CACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGT CCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTAACCCAG CCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTGACCCA GCCCCCACACTGACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAAC CCGGCCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTA ACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCAC ACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCC ACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCC CCCACACTGACCC		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924095	A A	AGCCCCCC others(534): Show AGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTGA CCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACAC TAACCCGGCCCCCCACACTAACCCGGCCCCCACACTGACCCAGCCCCCAC ACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCC ACACTAACCCAGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCC CCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCGG CCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAACCC GGCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCACACTAACC CAGTCCCCACACTGACCCAGCCCCCACACTGACCCGGCCCCCCACACTAA CCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACAC TGACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0039 a0003c0003t0001g0039	1	350	0.0029	541	c.489 others(558): Show c.489-1489_489-1488insAGCCCCCACACTAACCCGGCCCCCCACA CTAACCCAGCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCCA CACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCC CACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGT CCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTAACCCAG CCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTGACCCA GCCCCCACACTGACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAAC CCGGCCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTA ACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCAC ACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCC ACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCC CCCACACTGACCC		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924214	A A	GACCCGGC others(534): Show GACCCGGCCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCCACA CTAACCCAGCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCCCCCA CACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCC CACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGT CCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTAACCCAG CCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTGACCCA GCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAAC CCGGCCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTA ACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCAC ACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCC ACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0033 a0003c0003t0001g0033	1	350	0.0029	541	c.489 others(558): Show c.489-1511_489-1510insGACCCGGCCCCCACACTGACCCAGCCCC CACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTAACCCAGTC CCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCACACTAACCCAG CCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACC CGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCACACTAA CCCGGCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCACACTA ACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCCACAC TAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCA CACTGACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCC CCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTGACCCAGC CCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACCC GGCCCCCCACACT		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31						chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924236	G G	GGCCCCCA others(534): Show GGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTAAC CCAGTCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCACACTA ACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACA CTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCCA CACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCC ACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTGACCCGGCCCC CCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAG TCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCC AGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTGA CCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCACAC TAACCCGGCCCCCCACACTAACCCGGCCCCCACACTGACCCA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01256.hp1 HG01258.hp1	a0004 a0005 a0004 a0005	a0004c0004 a0005c0005 a0004c0004 a0005c0005	a0004c0004t0001 a0005c0005t0003 a0004c0004t0001 a0005c0005t0003	a0004c0004t0001g0177 a0005c0005t0003g0184 a0004c0004t0001g0177 a0005c0005t0003g0184	2	350	0.0057	541	c.489 others(558): Show c.489-1377_489-1376insCACTAACCCGGCCCCCCACACTAACCCA GCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAAC CCAGTCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCACACTAA CCCAGTCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTG ACCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCAC ACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCC ACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTC CCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAG CCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTGACC CAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTAA CCCAGTCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCACACT AACCCAGCCCCCA		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CTU2_chr16_88701503_88720396	88713207	C C	CCGAGAGC others(534): Show CCGAGAGCCCCCTTTCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCC GGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTG ACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACT CATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCC CTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAG CCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCCTGAGAGCCCCCT TCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCTTCCCCGGGCC CTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCC CACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATA CCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0127 a0002c0003t0001g0127	1	418	0.0024	541	c.738 others(556): Show c.738-104_738-103insGAGAGCCCCCTTTCCCGGGCCCTGACCCCC ACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATAC CCGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCC CGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCC TGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCC CACTCATACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT GCCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCT TCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGG CCCTGACCCCCACTCATACCCCTGAGAGCCCCCTTCCCCGGGCCCTGACC CCCACTCATAC		CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(534): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCAC CCCGCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCACC CCCACCCCCACCCTCACCCCCACCCGCACCCCCACCCCCACCCCCACCCG CACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCA CCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACC CGCACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCTC CACCCCCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCA CCCGCACCCCCACCCCCACCCTCACCCGCACCCCCACCCCCACCCGCACC CCCACCCCCACCCTCACCCCCACCCTCACCCGCACCCGCACCCCCACCCT CACCCCCACCCTCACCCCCACCCTCACCCGCACCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0193 a0002c0002t0001g0193	1	320	0.0031	541	c.39 others(552): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGAGGG TGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTG GGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGG GGTGCGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGG GTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGT GCGGGTG		DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding					2482		chr20	TogoVar

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Search Results (Total: 10000 hits)