Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SPACA6_chr19_51688330_51710190	51704887	C C	CCCCTCCT others(415): Show CCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGTCCTTCCACCCGC AGACCCAGAAATCCATGACCCTAGCCCCTCCTCCCTCAGACCCAGGTGTC CAGGACCCCAGCCCCTTCCTCCCTCAGACCCAGGTTTCCATCCAGGCCCC TGGCCCCTCCTCCCTCAGACCCAGGAATCCAGGCCCCCAGTCCTTCCACC CGCAGACCCAGAAATCCAAGCCCCCAGCCCCTCCTCCCTCAGACCCAGGT GTCCAGGACCCCAGCCCTCTCCTCCCTCAGACCCAGGTTTCCATCCAGGC CCCTGGCCCCTCCTCCCGCAGATCCAAGAGTCCAAGCCCCCGGACCCCCT CCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCTCTCCTCCCTCAGACC CAGGTTTCCATCCAGGCCCCGGA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0039 a0004c0010t0001g0039	1	416	0.0024	422	c.942 others(437): Show c.942-188_942-187insCCCAGGAGTCCAGGCCCCCAGTCCTTCCAC CCGCAGACCCAGAAATCCATGACCCTAGCCCCTCCTCCCTCAGACCCAGG TGTCCAGGACCCCAGCCCCTTCCTCCCTCAGACCCAGGTTTCCATCCAGG CCCCTGGCCCCTCCTCCCTCAGACCCAGGAATCCAGGCCCCCAGTCCTTC CACCCGCAGACCCAGAAATCCAAGCCCCCAGCCCCTCCTCCCTCAGACCC AGGTGTCCAGGACCCCAGCCCTCTCCTCCCTCAGACCCAGGTTTCCATCC AGGCCCCTGGCCCCTCCTCCCGCAGATCCAAGAGTCCAAGCCCCCGGACC CCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCAGCCCTCTCCTCCCTCA GACCCAGGTTTCCATCCAGGCCCCGGACCCTCCTCCCTCAGA	SPACA6	ENSG00000182310.16	transcript	ENST00000637797.2	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(415): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGGGG AAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGAACGGGGGA GGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAAGGGGGAGGGGGA AGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGG GGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGA GGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAAGGGGG AGGGGGGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGG GGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	251	0.0040	422	c.34 others(431): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCAT CTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCT TCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCG CTTCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTC CCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(415): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGGAGGGGGAGGTGGGAGGGGGAGAGGGAGGGGGAGGGGGAAGGG GGAGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAAC GGGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGG GGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGG AGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAAGGGGG AGGGGGGAGGGGGAAGGGGGAGGGGGGACGGGGGAGGGGAGATGGGGAGG GGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0010 a0005c0006t0010	a0005c0006t0010g0019 a0005c0006t0010g0019	1	251	0.0040	422	c.34 others(431): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTCCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCATC TCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCC CCTCCCCCTTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTTCCCCCTCC CCCTCCCTCTCCCCCTCCCACCTCCCCCTCCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(415): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGGG GAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGAACGGGGG AGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAAGGGGGAGGGGGA AGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGG GGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGA GGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAAGGGGG AGGGGGGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGG GGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	251	0.0040	422	c.34 others(431): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCAT CTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCT TCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGC TTCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCC CACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCC CCCTCCCCCTTCCCCCTCCCCCTTCCCCCTTCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPG7_chr16_89503403_89562766	89536032	C C	CTGTGGCC others(415): Show CTGTGGCCTCTCTGGTGCTGTGTGGCCTTCACTGTGGCCTCTCTGGTGCT GTGTGGCCTTCACTGTGGCCTCTCTGGTGCTGTGTGGCCTTCACTGTGGC CTCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCGCTCTGGTGCTGTGTGGC CTTCAGTGTGGCCGCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCTCTCTG GTGCTGTGTGGCCTTCAGTGTGGCCTCTCTGGTGCTGTGTGGCCTCTCTG GTGCTGTGTGGCCTTCAGTGTGGCCTCTCTGGTGCTGTGTGGCCTTCAGT GTGGCCTCTCTGGTGCTGTGTGGCCTTCACTGTGGCCTCTCTGGTGCTGT GTGGCCTTCAGTGTGGCCGCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCG CTCTGGTGCTGTGTGGCCTTCAG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	358	0.0028	422	c.132 others(441): Show c.1324+3426_1324+3427insCTGTGGCCTCTCTGGTGCTGTGTGGC CTTCACTGTGGCCTCTCTGGTGCTGTGTGGCCTTCACTGTGGCCTCTCTG GTGCTGTGTGGCCTTCAGTGTGGCCGCTCTGGTGCTGTGTGGCCTTCAGT GTGGCCGCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCTCTCTGGTGCTGT GTGGCCTTCAGTGTGGCCTCTCTGGTGCTGTGTGGCCTCTCTGGTGCTGT GTGGCCTTCAGTGTGGCCTCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCT CTCTGGTGCTGTGTGGCCTTCACTGTGGCCTCTCTGGTGCTGTGTGGCCT TCAGTGTGGCCGCTCTGGTGCTGTGTGGCCTTCAGTGTGGCCGCTCTGGT GCTGTGTGGCCTTCAGTGTGGCCTCTCTGGTGCTGTGTGGCCTTCA	SPG7	ENSG00000197912.16	transcript	ENST00000645818.2	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(415): Show TGTATATATATATGTATATATGTGTATATGTGTGTATATATGTATATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGTGTATATGTGCATATATACGCATATATGTGAGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATATATA CGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATG TGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATATATG TGTGTATATGTGCATATATACGC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04228.hp1 HG04184.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0119 a0001c0001t0001g0113 a0001c0001t0001g0119	2	188	0.0106	422	c.152 others(441): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGTAT ATGTGTGTATATATGTATATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATAT ATGTGAGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGCATAT ATGTGTGTATATGTGCATATATACGCATATATGTGTGTATATGTGCATAT ATACGCATATATGTGTGTATATGTGCATATATACGCATATATGTGTGTAT ATGTGCATATATACGCATATATGTGTGTATATGTGCATATATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
STMN3_chr20_63634712_63658424	63642015	C C	CCCCCGCC others(415): Show CCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCTGGCCCCGCCCCG GCCCCTGCCCGCTCCGAGCTCCGCCCTGGCCCCGCCCCCGCCCAGTGCCC CGCCCCCTGCCTGCTGCTAGCCCTGCCCCCGCCCCGGCCCCTGCCCGCTC CGAGCTCCGCCCTGGCCCCGCCCCCGCCCAGTGCCCCGCCCCCTGCCTGC TGCTAGCCCTGCCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCTG GCCCCGCCCCCGCCCAGTGCCCCGCCCCCTGCCTGCTGCTAGCCCTGCCC CCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCTGGCCCCGCCCCCGCC CAGTGCCCCGCCCCCTGCCTGCTGCTTGCCCTGCCCCCTCCCCGGCCCCT GCCCGCTCCGAGCTCCGCCCCGG	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0065 a0001c0001t0024g0065	1	388	0.0026	422	c.483 others(435): Show c.483+92_483+93insCCGGGGCGGAGCTCGGAGCGGGCAGGGGCCGG GGAGGGGGCAGGGCAAGCAGCAGGCAGGGGGCGGGGCACTGGGCGGGGGC GGGGCCAGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGGGCAGGGC TAGCAGCAGGCAGGGGGCGGGGCACTGGGCGGGGGCGGGGCCAGGGCGGA GCTCGGAGCGGGCAGGGGCCGGGGCGGGGGCAGGGCTAGCAGCAGGCAGG GGGCGGGGCACTGGGCGGGGGCGGGGCCAGGGCGGAGCTCGGAGCGGGCA GGGGCCGGGGCGGGGGCAGGGCTAGCAGCAGGCAGGGGGCGGGGCACTGG GCGGGGGCGGGGCCAGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGCGGG GCCAGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGG	STMN3	ENSG00000197457.10	transcript	ENST00000370053.3	protein_coding	4/4			chr20	TogoVar
SYK_chr9_90796819_90903549	90884880	T T	TGTGTGTA others(415): Show TGTGTGTATATACATATACACACATATGTGTGTATATACATATATACATA TATACATATATACATATATACACATATGTGTACATATGTGTATATATACA TATATATACACATATATATGTATATATACACATATGTGTACATATGTGTA TATATACATATATACACATATATATGTATATATACACATATGTGAATATA TATGTGTTATATATACACATATGTGTATATGTATATATGTATATATACAC ATATGTGTATATATACATATATACATATACACATATGTGTATATATAACA CATATATATACACATATGTGTATATATACATATATACATATACACATATG TGTATATATAACACATATATATACACATATGTGTATATATACATATATAC ATATACACATATGTGTATATATA	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0156 a0001c0001t0003g0156	1	376	0.0027	422	c.158 others(441): Show c.1582-2869_1582-2868insGTGTGTATATACATATACACACATAT GTGTGTATATACATATATACATATATACATATATACATATATACACATAT GTGTACATATGTGTATATATACATATATATACACATATATATGTATATAT ACACATATGTGTACATATGTGTATATATACATATATACACATATATATGT ATATATACACATATGTGAATATATATGTGTTATATATACACATATGTGTA TATGTATATATGTATATATACACATATGTGTATATATACATATATACATA TACACATATGTGTATATATAACACATATATATACACATATGTGTATATAT ACATATATACATATACACATATGTGTATATATAACACATATATATACACA TATGTGTATATATACATATATACATATACACATATGTGTATATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13			chr9	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(415): Show AGAGGGAGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGGA GGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAGGG AGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGGGG GAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGAGA GGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGA GAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGG GGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGA GAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGA GGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18946.hp2 NA18945.hp2 NA18946.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0036	a0001c0002t0036g0134 a0001c0002t0036g0135 a0001c0002t0036g0134 a0001c0002t0036g0135	2	276	0.0073	422	c.-18 others(441): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCTCT CTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCC CCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCC TCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCC CCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCCCTCTCCCCCCTCCCTCCCCCTCTCTCCCC CCCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCC TCCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTCC CCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(415): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGG AGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAGG GAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGGG GGAGAGAGGGGGAGGGAGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGAGA GGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGA GAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGG GGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGA GAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGA GGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0059 a0001c0003t0023g0059	1	276	0.0036	422	c.-18 others(441): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCTCT CTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCC CCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCC TCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCC CCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCCCTCTCCCCCTCCCTCCCCCTCTCTCCCCC CCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCT CCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTCCC CCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(415): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGG AGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAGG GAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGGG GGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGAG AGGGGGAGGGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGA GAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGG GGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGA GAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGA GGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0057 a0001c0002t0057	a0001c0002t0057g0205 a0001c0002t0057g0205	1	276	0.0036	422	c.-18 others(441): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCTCT CTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCC CCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCC TCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCC CCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCCCTCCCCCTCTC TCTCCCCCCTCCCTCCCCCCCTCTCCCCCCTCCCTCCCCCTCTCTCCCCC CCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCT CCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTCCC CCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672766	A A	AGAGGGAG others(415): Show AGAGGGAGGGGGGGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGAGGGGG AGGGGGAGAGAGTGGGGAGGGAGAGAGAGAAGGGGAGGCGGAGAGGGAGG GAGGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGAGAGAGGGGGAGGGGG GGAGAGAGGGGGAGGGAGGGGGGAGAGGGGGGGAGGGAGGGGGGAGAGAG AGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGG AGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAGG GGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGG AGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAG GGGGGGGGAGAGAGAGGGGGAGG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0081 a0001c0004t0007g0081	1	276	0.0036	422	c.-18 others(441): Show c.-18+37491_-18+37492insCCTCCCCCTCTCTCTCCCCCCCCCTC TCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCC CCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCT CCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCCC CCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTCTC TCTCCCCCCTCCCTCCCCCCCTCTCCCCCCTCCCTCCCCCTCTCTCCCCC CCTCCCCCTCTCTCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCT CCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTCCC CCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCCTCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TBC1D22A_chr22_46757650_47180693	46772292	T T	TACACATA others(415): Show TACACATATATATGTATACACACATACACATATATATGTATACACACATA CACATATATATGTATACACACATACACATATATATGTATACACACATACA CATATATATGTATACACACATACACATATATATGTATACACACATACACA TATATATGTATACACACACACATATATGTATACACACACACATATATGTA TACACACATACATATATATGTATACACACACATATATATGTATACACACA CATATATATGTATACACACATACATATATATGTATACACACATACATATA TATGTATACACACATACATATATATGTATACACACATACATATATATGTA TACACACATACATATATATGTATACACACATACATATATATGTATACACA CATACATATATATGTATACACAC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	112	0.0089	422	c.62+ others(437): Show c.62+9445_62+9446insCACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACATACACATATATATGTATACACACACACATATATGTATA CACACACACATATATGTATACACACATACATATATATGTATACACACACA TATATATGTATACACACACATATATATGTATACACACATACATATATATG TATACACACATACATATATATGTATACACACATACATATATATGTATACA CACATACATATATATGTATACACACATACATATATATGTATACACACATA CATATATATGTATACACACATACATATATATGTATACACACA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46772340	T T	TACACATA others(415): Show TACACATATATATGTATACACACATACACATATATATGTATACACACATA CACATATATATGTATACACACATACACATATATATGTATACACACATACA CATATATATGTATACACACATACACATATATATGTATACACACATACACA TATATATGTATACACACACACATATATATGTATACACACACATATATATG TATACACACATACATATATATGTATACACACACATATATATGTATACACA CACATATATATGTATACACACACATATATATGTATACACACATACATATA TATGTATACACACATACATATATATGTATACACACATACATATATATGTA TACACACATACATATATATGTATACACACATACATATATATGTATACACA CATACATATATATGTATACACAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	112	0.0089	422	c.62+ others(437): Show c.62+9493_62+9494insCACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACATACACATATATATGTATACACACACACATATATATGTA TACACACACATATATATGTATACACACATACATATATATGTATACACACA CATATATATGTATACACACACATATATATGTATACACACACATATATATG TATACACACATACATATATATGTATACACACATACATATATATGTATACA CACATACATATATATGTATACACACATACATATATATGTATACACACATA CATATATATGTATACACACATACATATATATGTATACACACA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
THEG_chr19_356747_381026	377080	C C	CTCTGTGC others(415): Show CTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCCCCGTGCCCCACCCAGCCTCCCCCCCTCTGTGCCCCACCCAGCCTC CCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCCCCTGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCC AGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCC CACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGC CCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCTCTGT GCCTCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0091 a0001c0001t0013g0091	1	370	0.0027	422	c.-11 others(433): Show c.-1111_-1110insAGGGGGAGAGGCTGGGTGGAGGCACAGAGGGGGA GAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGG GAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGG GGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGG GGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC GGGGGGGGAGAGGCTGGGTGGGGGCACAGGGGGGGGAGAGGCTGGGTGGG GCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGGGAGGCTGGGTG GGGCACAGAGGGGGGGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGG TGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGA	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1055		chr19	TogoVar
TMEM132D_chr12_129066726_129909025	129828687	G G	GGGAGGAG others(415): Show GGGAGGAGGGAGAAGGAAGGGAGGAAAGGAGGGAGGGAGGAAAGGAGGGA GGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGG GAGGAAAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAAGGA GGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAGG GAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGGAGGAA AGGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAG GAGGAAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGA GGGAGGGAGGGAGGGAGGAAAGGAGGAAGGGAGGGAGGGAGGGAGGAAAG GAGGGAGGGAGGGAGGGAGGAAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0019 a0003c0005t0001g0019	1	94	0.0106	422	c.79+ others(439): Show c.79+74573_79+74574insTTTCCTCCCTCCCTCCCTCCCTCCTTTC CTCCCTCCCTCCCTCCCTTCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTT TCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTTCCTCCTTTC CTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCT CCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCCTCC TTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTT TCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCC CTCCCTCCCTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCT CCTTTCCTCCCTCCCTCCTTTCCTCCCTTCCTTCTCCCTCCTCC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TOLLIP_chr11_1269371_1314632	1294163	T T	TCACAGTG others(415): Show TCACAGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCA CGGTGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAG TGTGTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAGTGT GTCTCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAGTGTGTC TCCTTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAGTGTGTCTCC TTTCCCTGCATTTCTACGAAAGCCCGCGTGGCTCACAGTGTGTCTCCTTT CCCTGCATTTCTACGAAAGCCCGCATGGCTCAGTGTGTCTCCTTTCCCTG CATTTCTACGAAAGCCGCGTGGCTCACAGTGTGTCTCCTTTCCCTGCATT TCTACGAAAGCCTGCGTGGCTCA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0312 a0001c0001t0004g0312	1	348	0.0029	422	c.183 others(439): Show c.183+1481_183+1482insTGAGCCACGCAGGCTTTCGTAGAAATGC AGGGAAAGGAGACACACTGTGAGCCACGCGGCTTTCGTAGAAATGCAGGG AAAGGAGACACACTGAGCCATGCGGGCTTTCGTAGAAATGCAGGGAAAGG AGACACACTGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGA CACACTGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACAC ACTGTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACT GTGAGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTG AGCCACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACCGTGAGC CACGCGGGCTTTCGTAGAAATGCAGGGAAAGGAGACACACTGTG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	2/5			chr11	TogoVar
TP73_chr1_3647516_3741201	3693855	C C	CTCCTCCT others(415): Show CTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCTCCTCCTCCCACAATCC CAGCCCTGCAGCCTCAGCTCCTCCTCCCACAATCCCAGCCCTGCAGCCTC AGCTCCTCCTCCCACAATCCCACCCATGCAGCTTCAGCCCCTCCTCCCGC AATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCA GCCTCAGCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCCGCCCCTCCT CCTGCAATCCTAGTCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCTAGTC CTGCAGCCTCAGCCCCTTCCTCCCGCAATCCCACCCATGCAGCCTCAGCC CCTCCTCCCGCAATCCTAGTCCTGCAGCCTCAGCCCCTCCTCCCGCAATC CTAGTCCTGCAGCCTCAGCCCCT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0039 a0001c0017t0039	a0001c0017t0039g0132 a0001c0017t0039g0132	1	358	0.0028	422	c.186 others(441): Show c.186+10681_186+10682insTGCAATCCCAGCCCTGCAGCCTCAGC TCCTCCTCCCACAATCCCAGCCCTGCAGCCTCAGCTCCTCCTCCCACAAT CCCAGCCCTGCAGCCTCAGCTCCTCCTCCCACAATCCCACCCATGCAGCT TCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCC GCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCCTG CAGCCTCCGCCCCTCCTCCTGCAATCCTAGTCCTGCAGCCTCAGCCCCTC CTCCCGCAATCCTAGTCCTGCAGCCTCAGCCCCTTCCTCCCGCAATCCCA CCCATGCAGCCTCAGCCCCTCCTCCCGCAATCCTAGTCCTGCAGCCTCAG CCCCTCCTCCCGCAATCCTAGTCCTGCAGCCTCAGCCCCTTCCTCC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3694118	G G	GCCCTGCA others(415): Show GCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAG CCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCCGCCCCTCCTCCCGCAA TCCCAGCCATGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGC CTCAGCCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAGCCCCTCCTCC CGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCT GCAGCCTCAGCCCCTTCCTCCCGCAATCCCACCCATGCAGCCTCAGCCCC TCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCCCCTGCAATCCC AGCCCTGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCA GACCCTTCCTCCCACAATCCCAC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	358	0.0028	422	c.186 others(441): Show c.186+10940_186+10941insCTGCAGCCTCAGCCCCTCCTCCCGCA ATCCCAGCCATGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAG CCTCCGCCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAGCCCCTCCTC CCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCA TGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCC TCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTTCCTCCCGCAATCC CACCCATGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTC AGCCCCTCCCCCTGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGC AATCCCAGCCATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3694449	A A	AGCCCCTC others(415): Show AGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGC AATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCA GCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTTCC TCCCGCAATCCCACCCATGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGC CCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCC CCTTCCTCCCGCAATCCCACCCATGCAGCCTCAGCCCCTCCTCCCGCAAT CCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCC TCAGCCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAGCCCCTCCTCCC GCAATCCCAGCCCTGCAGCCTCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0011 a0001c0006t0011	a0001c0006t0011g0078 a0001c0006t0011g0078	1	358	0.0028	422	c.186 others(441): Show c.186+11293_186+11294insCTGCAGCCTCAGCCCCTCCTCCCGCA ATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAG CCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTTCCT CCCGCAATCCCACCCATGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCC CTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCC CTTCCTCCCGCAATCCCACCCATGCAGCCTCAGCCCCTCCTCCCGCAATC CCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCT CAGCCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAGCCCCTCCTCCCG CAATCCCAGCCCTGCAGCCTCCGCCCCTCCTCCCGCAATCCCAGCC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3694754	A A	ATGCAGCC others(415): Show ATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCCATGCAGCCTCAGCC CCTCCTCCTGCAATCCCACCCATGCATCTTCAGCCCCTCCTCCCGCAATC CCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCT CAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCTCCTCCCG CAATCCCAGCCCTGCAGCCTCCACCCCTCCTCCCGCAATCCCAGCCATGC AGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCCTC CTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAC CCATGCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGC CCCTCCTCCTGCAATCCCAGCCC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	358	0.0028	422	c.186 others(441): Show c.186+11589_186+11590insCTCCTCCCACAATCCCACCCATGCAG CCTCAGCCCCTCCTCCTGCAATCCCACCCATGCATCTTCAGCCCCTCCTC CCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCC TGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCC TCCTCCCGCAATCCCAGCCCTGCAGCCTCCACCCCTCCTCCCGCAATCCC AGCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCA GCCCCCTCCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGC AATCCCACCCATGCATCTTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCA GCCTCAGCCCCTCCTCCTGCAATCCCAGCCCTGCAGCCTCAGCCCC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRAF6_chr11_36478769_36515272	36507507	G G	GTATTATA others(415): Show GTATTATACATACGTAAATGTATATATGTATATATACATGTATTATACAT ACGTAAATGTATAATGTATATATACATGTATTATACATACGTAAATGTAT AATGTATATATACATTATACATACGTAAATGTATAATGTATATATACATT ATACATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGT ATAATGTATATATACATTATACATACGTAAATGTATAATGTATATATACA TTATACATACGTAAATGTATGTATATATACATTATACATACGTAAATGTA TTATACATAAATGTATATATGTATATATACATGTATTATACATACATAAA TGTATATATGTATATATACATGTATTATACATACATAAATGTATATATGT ATATATACATGTATGCACGTATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02965.hp2 HG02818.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0331 a0001c0001t0024g0332 a0001c0001t0024g0331 a0001c0001t0024g0332	2	388	0.0052	422	c.-23 others(439): Show c.-23+2540_-23+2541insTATACGTGCATACATGTATATATACATA TATACATTTATGTATGTATAATACATGTATATATACATATATACATTTAT GTATGTATAATACATGTATATATACATATATACATTTATGTATAATACAT TTACGTATGTATAATGTATATATACATACATTTACGTATGTATAATGTAT ATATACATTATACATTTACGTATGTATAATGTATATATACATTATACATT TACGTATGTATAATGTATATATACATTATACATTTACGTATGTATAATGT ATATATACATTATACATTTACGTATGTATAATGTATATATACATTATACA TTTACGTATGTATAATACATGTATATATACATTATACATTTACGTATGTA TAATACATGTATATATACATATATACATTTACGTATGTATAATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRPC4AP_chr20_34997404_35097807	35097478	T T	TATACACA others(415): Show TATACACACATGTGTGTGTGTATATACATATACACGCGTGTGTATATACA TATACACGCGTGTGTATATACATATACACGCGTGTGTATATACATATACA CGCGTGTGTATATACATATACACGCGTGTGTATATACATATACACGCGTG TGTATATACATATACACGCGTGTGTATATACATATACACGCGTGTGTATA TACATATACACGCGTGTGTATATACATATACACGCGTGTGTATATACATA TACACGCGTGTGTATATACATATACACGCGTGTGTATATACATATACACG CGTGTGTATATACATATACACGCGTGTGTATATACATATACACGCGTGTG TATATACATATACACGCGTGTGTATATACATATACACGCGTGTGTATATA CATATACACGCGTGTGTATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0248 a0001c0001t0003g0248	1	334	0.0030	422	c.-46 others(433): Show c.-4698_-4697insGTATATACACACGCGTGTATATGTATATACACAC GCGTGTATATGTATATACACACGCGTGTATATGTATATACACACGCGTGT ATATGTATATACACACGCGTGTATATGTATATACACACGCGTGTATATGT ATATACACACGCGTGTATATGTATATACACACGCGTGTATATGTATATAC ACACGCGTGTATATGTATATACACACGCGTGTATATGTATATACACACGC GTGTATATGTATATACACACGCGTGTATATGTATATACACACGCGTGTAT ATGTATATACACACGCGTGTATATGTATATACACACGCGTGTATATGTAT ATACACACGCGTGTATATGTATATACACACGCGTGTATATGTATATACAC ACGCGTGTATATGTATATACACACACACATGTGTGTAT	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4672		chr20	TogoVar
TULP4_chr6_158307465_158516828	158449517	T T	TGAAAAAT others(415): Show TGAAAAATGCTGTGCTATTACTAAGAAAAATTCCTCTGCCTTGGGATCCT GTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTG TGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTT AAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCT AATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTC TGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTC CCTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACAC CCAAGAATTATCAATAAAAAAATAAATTAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	268	0.0037	422	c.724 others(437): Show c.724+360_724+361insCTAAGAAAAATTCCTCTGCCTTGGGATCCT GTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTG TGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTT AAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCT AATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCGCAGGGTCCTC TGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTC CCTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACAC CCAAGAATTATCAATAAAAAAATAAATTAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAGAAAAATGCTGTGCTATTA	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
TXNDC16_chr14_52425596_52557505	52530556	A A	ATATTATA others(415): Show ATATTATATATAATAATATAATATATATTATTATATATTATTATATATAA TAATATAATATATATTATTATATATTATTATATATAATATAATATATATT ATTATATATTATTATATATAATATAATATATATTATTATATATTATTATA TATAATATAATATATATTATTATATATTATATATAATATAATATATATTA TTATATATTATTATATATAATATAATATATATTATTATATATTATTATAT ATAATATAATATATATTATTATATATTATTATATATAATAATATATAATA TATATTATTATATATTATTATATATAATAATATAATATATATTATTATAT ATAATAATATAATATATATTATTATATATTATTATATATAATATAATATA TATTATTATATATTATTATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0101 a0009c0012t0001g0101	1	238	0.0042	422	c.392 others(439): Show c.392+6162_392+6163insATATATAATAATATATAATAATATATAT TATATTATATATAATAATATATAATAATATATATTATATTATTATATATA ATAATATATATTATATTATTATATATAATAATATATAATAATATATATTA TATATTATTATATATAATAATATATAATAATATATATTATATTATATATA ATAATATATAATAATATATATTATATTATATATAATAATATATAATAATA TATATTATATTATATATAATATATAATAATATATATTATATTATATATAA TAATATATAATAATATATATTATATTATATATAATAATATATAATAATAT ATATTATATTATATATAATAATATATAATAATATATATTATATTATTATA TATAATAATATATAATAATATATATTATATTATTATATATAATA	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
VCX2_chrX_8164944_8176267	8169105	C C	CCTCCCTC others(415): Show CCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACACCTCT TCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACA CCGCCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCT CCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCC TCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCTCACACACCA CCGCTTCCTCCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCC TCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCA CCTCTTCCTCCCTCCCTCCCTCCCCACAAACCACCTCTTCCTCCCTCCCT CCCTCCCTCCCCACACACCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0050 a0001c0002t0001g0050	1	115	0.0087	422	c.92 others(431): Show c.926_*927insAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAA GAGGTGGTTTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGAGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGT GTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGCGGTGTGTGGGGAGGG AGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGG GAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		838		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6533095	C C	CCCTCCCT others(415): Show CCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCA CACACCTCTTCTTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCT CCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTC CTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCTCCC CACACACCTCTCCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTC CCTCCTCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCT TCCTCCCTCCCTCCTCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCA CACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCT CCCTCCCTCCCCACACACTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	74	0.0135	422	c.64 others(431): Show c.649_*650insAAGAAGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGAGGAGGGAGGGAGGAAGAGGTGTGTGGG GAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGAGGAGGGAGGGAGGAAGAG GTGTGTGGGGAGGGAGGGAGGGAGGGAGAGGTGTGTGGGGAGGGAGGGAG GGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTG GGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAA GAGGAGGTGTGTGGGGAGGGAGGGAAGAAGAGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		522		chrX	TogoVar
VPS16_chr20_2835745_2871732	2842829	T T	TAGATGTA others(415): Show TAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATG TATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATAGA TGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATG TATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTA TCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATC TATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTA TCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGA TAGATGTATCTATCGATAGATAG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0347 a0001c0001t0001g0347	1	408	0.0025	422	c.53+ others(437): Show c.53+2003_53+2004insGATGTATCTATCGATAGATAGATGTATCTA TCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTA TCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS53_chr17_503668_719839	598880	G G	GCCCCCCA others(415): Show GCCCCCCACCAGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCATGCCCGGCCAGCCGCCCCGTCCCGGAGGGAGTTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCACCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGT CTTGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGGCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCAGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGTCAGCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01081.hp2 HG01255.hp2 others(34): Show HG00423.hp2 HG01081.hp2 HG01255.hp2 HG01256.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG01978.hp2 HG02040.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG03492.hp2 HG04184.hp2 HG04199.hp2 NA18940.hp2 NA18945.hp2 NA18950.hp1 NA18961.hp1 NA18967.hp2 NA18978.hp2 NA18983.hp2 NA19009.hp2 NA19060.hp2 NA19065.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19079.hp2 NA19081.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0007 a0006c0012 a0001c0001 a0001c0007 a0006c0012	a0001c0001t0002 a0001c0001t0011 a0001c0001t0015 others(19): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0030 a0001c0001t0034 a0001c0001t0069 a0001c0001t0094 a0001c0001t0106 a0001c0001t0107 a0001c0001t0110 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0120 a0001c0001t0121 a0001c0001t0123 a0001c0007t0011 a0001c0007t0012 a0001c0007t0023 a0001c0007t0062 a0006c0012t0129	a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0133 others(34): Show a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0210 a0001c0001t0011g0013 a0001c0001t0015g0130 a0001c0001t0015g0131 a0001c0001t0015g0135 a0001c0001t0016g0118 a0001c0001t0016g0124 a0001c0001t0016g0125 a0001c0001t0030g0119 a0001c0001t0030g0120 a0001c0001t0034g0126 a0001c0001t0069g0012 a0001c0001t0094g0129 a0001c0001t0106g0117 a0001c0001t0107g0212 a0001c0001t0110g0127 a0001c0001t0115g0136 a0001c0001t0116g0138 a0001c0001t0117g0230 a0001c0001t0120g0211 a0001c0001t0121g0143 a0001c0001t0123g0123 a0001c0007t0011g0105 a0001c0007t0011g0106 a0001c0007t0012g0108 a0001c0007t0012g0110 a0001c0007t0012g0111 a0001c0007t0023g0107 a0001c0007t0062g0104 a0006c0012t0129g0140	37	232	0.1595	422	c.121 others(441): Show c.1218+2914_1218+2915insGGCTGACCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCTGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGCCTGGCCGGGCGTGGGGCTGACCCCCCCACCTCCCTCCAAGACG GGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGTGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCAACTCCCTCCGGGACGGGGCGGCTGGCCGGGCATGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCTGGTGGGGGG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	12/21			chr17	TogoVar
VPS53_chr17_503668_719839	598880	G G	GCCCCCCA others(415): Show GCCCCCCACCAGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCATGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGTTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCACCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGT CTTGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGGCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCAGCCAGCCACCCCGTCC GGGAGGGAGGTGGGGGGTCAGCC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0038 a0002c0010t0038	a0002c0010t0038g0156 a0002c0010t0038g0156	1	232	0.0043	422	c.121 others(441): Show c.1218+2914_1218+2915insGGCTGACCCCCCACCTCCCTCCCGGA CGGGGTGGCTGGCTGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGCCTGGCCGGGCGTGGGGCTGACCCCCCCACCTCCCTCCAAGACG GGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGTGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCAACTCCCTCCCGGACGGGGCGGCTGGCCGGGCATGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCTGGTGGGGGG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	12/21			chr17	TogoVar
VPS53_chr17_503668_719839	598880	G G	GCCCCCCA others(415): Show GCCCCCCACCAGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCATGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGTTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCACCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGT CTTGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGGCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCAGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGTCAGCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01106.hp2 HG01109.hp1 others(25): Show HG00741.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01346.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG02622.hp1 HG02622.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp1 HG04204.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0013 a0001c0001 a0007c0013	a0001c0001t0017 a0001c0001t0028 a0001c0001t0029 others(20): Show a0001c0001t0017 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0084 a0001c0001t0087 a0001c0001t0088 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0101 a0001c0001t0105 a0001c0001t0111 a0001c0001t0112 a0001c0001t0118 a0001c0001t0127 a0001c0001t0134 a0001c0001t0141 a0007c0013t0132	a0001c0001t0017g0158 a0001c0001t0028g0196 a0001c0001t0028g0197 others(25): Show a0001c0001t0017g0158 a0001c0001t0028g0196 a0001c0001t0028g0197 a0001c0001t0029g0150 a0001c0001t0029g0151 a0001c0001t0031g0153 a0001c0001t0031g0155 a0001c0001t0032g0114 a0001c0001t0032g0204 a0001c0001t0033g0205 a0001c0001t0033g0206 a0001c0001t0034g0162 a0001c0001t0084g0046 a0001c0001t0087g0198 a0001c0001t0088g0152 a0001c0001t0095g0145 a0001c0001t0096g0146 a0001c0001t0097g0199 a0001c0001t0098g0147 a0001c0001t0101g0200 a0001c0001t0105g0201 a0001c0001t0111g0164 a0001c0001t0112g0157 a0001c0001t0118g0195 a0001c0001t0127g0159 a0001c0001t0134g0154 a0001c0001t0141g0165 a0007c0013t0132g0163	28	232	0.1207	422	c.121 others(441): Show c.1218+2914_1218+2915insGGCTGACCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCTGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGCCTGGCCGGGCGTGGGGCTGACCCCCCCACCTCCCTCCAAGACG GGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGTGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCAACTCCCTCCCGGACGGGGCGGCTGGCCGGGCATGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCTGGTGGGGGG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	12/21			chr17	TogoVar
VPS53_chr17_503668_719839	598880	G G	GCCCCCCA others(415): Show GCCCCCCACCAGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCATGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGTTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCACCTGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGT CTTGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGGCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCAGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGTCAGCC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0122 a0001c0001t0138 a0001c0001t0122 a0001c0001t0138	a0001c0001t0122g0160 a0001c0001t0138g0161 a0001c0001t0122g0160 a0001c0001t0138g0161	2	232	0.0086	422	c.121 others(441): Show c.1218+2914_1218+2915insGGCTGACCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCTGGGCGAGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGGGCGCCTGGCCGGGCGTGGGGCTGACCCCCCCACCTCCCTCCAAGACG GGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCAGGTGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCAACTCCCTCCCGGACGGGGCGGCTGGCCGGGCATGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCTGGTGGGGGG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	12/21			chr17	TogoVar
ZNF787_chr19_56082366_56126295	56105887	G G	GCCGCGCC others(415): Show GCCGCGCCCACGGCAGTCACCGCGCATTCCGCCCTCCGCGCCCACGGCAG TCACCGCGCATTCCCCGCTCCGCGCCCACGGCAGTCACCGCGCATTCCCC CCTCCGCGCCCACGGCAGTCACCGCGCATTCCGCCCTCCGCGCCCACGGC AGTCACCGCGCATTCCCCCCTCCGCGCCCACGGCAGTCACCGCGCATTCC GCCCGCCGCGCCCACGGCAGTCACCGCGCATTCCCCCCTCCGCGCCCACG GCAGTCACCGCGCATTCCGCATTCCCCCCTCCGCGCCCACGGCAGTCACC GCGCATTCCGCCCTCCGCGCCCACGGCAGTCACCGCGCATTCCCCCCTCC GCGCCCACGGCAGTCACCGCGCAATCCCCCCTCCGCGCCCACGGCAGTCA CCGCGCATTCCGCATTCCCCCCT	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0002 a0006c0012t0002	a0006c0012t0002g0256 a0006c0012t0002g0256	1	410	0.0024	422	c.-10 others(439): Show c.-10-2661_-10-2660insAGGGGGGAATGCGGAATGCGCGGTGACT GCCGTGGGCGCGGAGGGGGGATTGCGCGGTGACTGCCGTGGGCGCGGAGG GGGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGCGGAATGCGCGGTGA CTGCCGTGGGCGCGGAGGGGGGAATGCGGAATGCGCGGTGACTGCCGTGG GCGCGGAGGGGGGAATGCGCGGTGACTGCCGTGGGCGCGGCGGGCGGAAT GCGCGGTGACTGCCGTGGGCGCGGAGGGGGGAATGCGCGGTGACTGCCGT GGGCGCGGAGGGCGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGGGGA ATGCGCGGTGACTGCCGTGGGCGCGGAGCGGGGAATGCGCGGTGACTGCC GTGGGCGCGGAGGGCGGAATGCGCGGTGACTGCCGTGGGCGCGG	ZNF787	ENSG00000142409.6	transcript	ENST00000610935.2	protein_coding	1/2			chr19	TogoVar
ZNF787_chr19_56082366_56126295	56105887	G G	GCCGCGCC others(415): Show GCCGCGCCCACGGCAGTCACCGCGCATTCCGCCCTCCGCGCCCACGGCAG TCACCGCGCATTCCCCGCTCCGCGCCCACGGCAGTCACCGCGCATTCCCC CCTCCGCGCCCACGGCAGTCACCGCGCATTCCGCCCTCCGCGCCCACGGC AGTCACCGCGCATTCCCCCCTCCGCGCCCACGGCAGTCACCGCGCATTCC GCCCTCCGCGCCCACGGCAGTCACCGCGCATTCCCCCCTCCGCGCCCACG GCAGTCACCGCGCATTCCGCATTCCCCCCTCCGCGCCCACGGCAGTCACC GCGCATTCCGCCCTCCGCGCCCACGGCAGTCACCGCGCATTCCCCCCTCC GCGCCCACGGCAGTCACCGCGCAATCCCCCCTCCGCGCCCACGGCAGTCA CCGCGCATTCCGCATTCCCCCCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp1 others(68): Show HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00597.hp2 HG00621.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01123.hp1 HG01175.hp1 HG01261.hp1 HG01346.hp1 HG01496.hp1 HG01975.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02165.hp2 HG02523.hp1 HG03239.hp2 HG03688.hp1 HG03831.hp1 HG04115.hp2 HG04199.hp2 NA18747.hp2 NA18940.hp1 NA18942.hp1 NA18946.hp2 NA18948.hp2 NA18951.hp2 NA18960.hp1 NA18962.hp1 NA18969.hp1 NA18971.hp2 NA18974.hp1 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18990.hp1 NA18995.hp1 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19009.hp2 NA19012.hp1 NA19056.hp1 NA19057.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19082.hp1 NA19084.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp2 NA21309.hp2	a0000 a0001 a0002 others(1): Show a0000 a0001 a0002 a0006	a0000c0004 a0000c0014 a0001c0001 others(2): Show a0000c0004 a0000c0014 a0001c0001 a0002c0003 a0006c0012	a0000c0004t0001 a0000c0014t0002 a0001c0001t0001 others(26): Show a0000c0004t0001 a0000c0014t0002 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0053 a0001c0001t0056 a0001c0001t0061 a0001c0001t0065 a0001c0001t0070 a0001c0001t0071 a0001c0001t0077 a0001c0001t0081 a0001c0001t0082 a0001c0001t0086 a0001c0001t0087 a0002c0003t0031 a0002c0003t0075 a0006c0012t0002	a0000c0004t0001g0272 a0000c0014t0002g0263 a0001c0001t0001g0008 others(61): Show a0000c0004t0001g0272 a0000c0014t0002g0263 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0081 a0001c0001t0001g0198 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0265 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0292 a0001c0001t0001g0308 a0001c0001t0001g0324 a0001c0001t0002g0007 a0001c0001t0002g0086 a0001c0001t0002g0246 a0001c0001t0002g0261 a0001c0001t0002g0266 a0001c0001t0002g0269 a0001c0001t0002g0274 a0001c0001t0002g0285 a0001c0001t0002g0291 a0001c0001t0002g0293 a0001c0001t0002g0297 a0001c0001t0002g0313 a0001c0001t0003g0195 a0001c0001t0003g0283 a0001c0001t0006g0075 a0001c0001t0006g0196 a0001c0001t0006g0250 a0001c0001t0006g0280 a0001c0001t0006g0281 a0001c0001t0007g0078 a0001c0001t0007g0267 a0001c0001t0007g0282 a0001c0001t0008g0268 a0001c0001t0010g0083 a0001c0001t0010g0249 a0001c0001t0011g0133 a0001c0001t0015g0019 a0001c0001t0034g0085 a0001c0001t0035g0247 a0001c0001t0035g0260 a0001c0001t0036g0262 a0001c0001t0037g0372 a0001c0001t0037g0373 a0001c0001t0053g0270 a0001c0001t0056g0197 a0001c0001t0061g0271 a0001c0001t0065g0251 a0001c0001t0070g0323 a0001c0001t0071g0259 a0001c0001t0077g0194 a0001c0001t0081g0245 a0001c0001t0082g0302 a0001c0001t0086g0371 a0001c0001t0087g0374 a0002c0003t0031g0254 a0002c0003t0075g0248 a0006c0012t0002g0079 a0006c0012t0002g0255	71	410	0.1732	422	c.-10 others(439): Show c.-10-2661_-10-2660insAGGGGGGAATGCGGAATGCGCGGTGACT GCCGTGGGCGCGGAGGGGGGATTGCGCGGTGACTGCCGTGGGCGCGGAGG GGGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGCGGAATGCGCGGTGA CTGCCGTGGGCGCGGAGGGGGGAATGCGGAATGCGCGGTGACTGCCGTGG GCGCGGAGGGGGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGCGGAAT GCGCGGTGACTGCCGTGGGCGCGGAGGGGGGAATGCGCGGTGACTGCCGT GGGCGCGGAGGGCGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGGGGA ATGCGCGGTGACTGCCGTGGGCGCGGAGCGGGGAATGCGCGGTGACTGCC GTGGGCGCGGAGGGCGGAATGCGCGGTGACTGCCGTGGGCGCGG	ZNF787	ENSG00000142409.6	transcript	ENST00000610935.2	protein_coding	1/2			chr19	TogoVar
ABR_chr17_998519_1184981	1064387	C C	CTATGCAT others(416): Show CTATGCATGTTCCTCTAGACACTGTTATGTGAACTGAGGGCTATGCATGT TCCTCTAGACGCTGCTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTA GACACTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCCAGACACTG TTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACGCTGCTGTTAT GTGAACTGAGGGCTATGCATGTTCCTCTAGACGCTGTTGTTACGTGAACT GAGGGCTATGCATGTTCCTCTAGCACTGCTGTTACGTGAACTGAGGGCTA TGCATGTTCCTCCAGACACTGTTGGTATGTGAACTGAGGGCTATGCATGT TCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTA GACACTGTTATGTGAACTGAGGGT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0044 a0001c0001t0036g0044	1	337	0.0030	423	c.118 others(442): Show c.1182+2689_1182+2690insACCCTCAGTTCACATAACAGTGTCTA GAGGAACATGCATAGCCCTCAGTTCACATAACAACAGTGTCTAGAGGAAC ATGCATAGCCCTCAGTTCACATACCAACAGTGTCTGGAGGAACATGCATA GCCCTCAGTTCACGTAACAGCAGTGCTAGAGGAACATGCATAGCCCTCAG TTCACGTAACAACAGCGTCTAGAGGAACATGCATAGCCCTCAGTTCACAT AACAGCAGCGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAACA GTGTCTGGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGTGTCTA GAGGAACATGCATAGCCCTCAGTTCACATAACAGCAGCGTCTAGAGGAAC ATGCATAGCCCTCAGTTCACATAACAGTGTCTAGAGGAACATGCATA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(416): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATAAAAATTTATATTTATATATCATATAAAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	423	c.-10 others(434): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTT TATATGATATATAAATATAAATTTTTATATGATATATAAATATAAATTTT TATATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAA TTTTTATATATGATATATAAATATAAATTTTTATTTATGATATATAAATA TAAATTTTTATATATTTATGATATATAAATATAAATTTTTATATATTTAT ATTTATGATATATAAATATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(416): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA19079.hp1 NA18978.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	418	0.0048	423	c.-10 others(434): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATGATATATAAATATAAATTTT TATATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAA TTTTTATATATGATATATAAATATAAATTTTTATTTATGATATATAAATA TAAATTTTTATATATTTATGATATATAAATATAAATTTTTATATATTTAT ATTTATGATATATAAATATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ADAMTS2_chr5_179105853_179350461	179277888	T T	TGCGAGAC others(416): Show TGCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCCG AGACCAACGGCTGACGCCCCCGCGAGACCAAAGGCTGACCCCCTCCGAGA CCAAAGGCTGACACCCCCCGAGACCAAAGGCTGACCGCCCCCGAGACCAA AGGCTGACCCCCCCGTGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGG CTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCT GACCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACC CCCCGCGAGACCAAAGGCTGACCCCCCCCCCGAGACCAAAGGCTGACCCC CCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCC GCGAGACCAAAGGCTGACCCCCCC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0060 a0002c0060	a0002c0060t0001 a0002c0060t0001	a0002c0060t0001g0091 a0002c0060t0001g0091	1	276	0.0036	423	c.535 others(440): Show c.535-4825_535-4824insGGGGGGGTCAGCCTTTGGTCTCGCGGGG GGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGG TCAGCCTTTGGTCTCGGGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGTC AGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCC TTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTT TGGTCTCGGGGGGGGTCAGCCTTTGGTCTCACGGGGGGGTCAGCCTTTGG TCTCGGGGGCGGTCAGCCTTTGGTCTCGGGGGGTGTCAGCCTTTGGTCTC GGAGGGGGTCAGCCTTTGGTCTCGCGGGGGCGTCAGCCGTTGGTCTCGGG GGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGC	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277906	C C	CCCCCCCC others(416): Show CCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACGCC CCCGCGAGACCAAAGGCTGACCCCCTCCGAGACCAAAGGCTGACACCCCC CGAGACCAAAGGCTGACCGCCCCCGAGACCAAAGGCTGACCCCCCCGTGA GACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGAC CAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCCGAGACCAA AGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCGCGAGACCAAAGGC TGACCCCCCCCCCCGAGACCAAAGGCTGACCCCCCCCCGAGACCAAAGGC TGACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGA CCCCCCCGCGAGACCAAAGGCTGA	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA19030.hp1 HG02717.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0014 a0002c0043 a0001c0014 a0002c0043	a0001c0014t0013 a0002c0043t0014 a0001c0014t0013 a0002c0043t0014	a0001c0014t0013g0112 a0002c0043t0014g0193 a0001c0014t0013g0112 a0002c0043t0014g0193	2	276	0.0073	423	c.535 others(440): Show c.535-4843_535-4842insTCAGCCTTTGGTCTCGCGGGGGGGTCAG CCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCT TTGGTCTCGGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGGGTCAGCCT TTGGTCTCGCGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGG TCTCGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCT CGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCAC GGGGGGGTCAGCCTTTGGTCTCGGGGGCGGTCAGCCTTTGGTCTCGGGGG GTGTCAGCCTTTGGTCTCGGAGGGGGTCAGCCTTTGGTCTCGCGGGGGCG TCAGCCGTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277906	C C	CCCCCCCC others(416): Show CCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACGCC CCCGCGAGACCAAAGGCTGACCCCCTCCGAGACCAAAGGCTGACACCCCC CGAGACCAAAGGCTGACCGCCCCCGAGACCAAAGGCTGACCCCCCCGTGA GACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGAC CAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCCGAGACCAA AGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCGCGAGACCAAAGGC TGACCCCCCCCCCGAGACCAAAGGCTGACCCCCCCCCCGAGACCAAAGGC TGACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGA CCCCCCCGCGAGACCAAAGGCTGA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0001 a0002c0031t0001	a0002c0031t0001g0061 a0002c0031t0001g0061	1	276	0.0036	423	c.535 others(440): Show c.535-4843_535-4842insTCAGCCTTTGGTCTCGCGGGGGGGTCAG CCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCT TTGGTCTCGGGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGGTCAGCCT TTGGTCTCGCGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGG TCTCGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCT CGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCAC GGGGGGGTCAGCCTTTGGTCTCGGGGGCGGTCAGCCTTTGGTCTCGGGGG GTGTCAGCCTTTGGTCTCGGAGGGGGTCAGCCTTTGGTCTCGCGGGGGCG TCAGCCGTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277906	C C	CCCCCCCC others(416): Show CCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACGCC CCCGCGAGACCAAAGGCTGACCCCCTCCGAGACCAAAGGCTGACACCCCC CGAGACCAAAGGCTGACCGCCCCCGAGACCAAAGGCTGACCCCCCCGTGA GACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGAC CAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCCGAGACCAA AGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCGCGAGACCAAAGGC TGACCCCCCCCCCGAGACCAAAGGCTGACCCCCCCCCGAGACCAAAGGCT GACCCCCCCCGAGACCAAAGGCTGACCCCCCCCGCGAGACCAAAGGCTGA CCCCCCCGCGAGACCAAAGGCTGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0122 a0001c0001t0004g0122	1	276	0.0036	423	c.535 others(440): Show c.535-4843_535-4842insTCAGCCTTTGGTCTCGCGGGGGGGTCAG CCTTTGGTCTCGCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCC TTTGGTCTCGGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGGTCAGCCT TTGGTCTCGCGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGG TCTCGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCT CGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCAC GGGGGGGTCAGCCTTTGGTCTCGGGGGCGGTCAGCCTTTGGTCTCGGGGG GTGTCAGCCTTTGGTCTCGGAGGGGGTCAGCCTTTGGTCTCGCGGGGGCG TCAGCCGTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277906	C C	CCCCCCCC others(416): Show CCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACGCC CCCGCGAGACCAAAGGCTGACCCCCTCCGAGACCAAAGGCTGACACCCCC CGAGACCAAAGGCTGACCGCCCCCGAGACCAAAGGCTGACCCCCCCGTGA GACCAAAGGCTGGCCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGAC CAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCCGAGACCAA AGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCGCGAGACCAAAGGC TGACCCCCCCCCGAGACCAAAGGCTGACCCCCCCCCCGAGACCAAAGGCT GACCCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGA CCCCCCCGCGAGACCAAAGGCTGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0019 a0019	a0019c0083 a0019c0083	a0019c0083t0001 a0019c0083t0001	a0019c0083t0001g0199 a0019c0083t0001g0199	1	276	0.0036	423	c.535 others(440): Show c.535-4843_535-4842insTCAGCCTTTGGTCTCGCGGGGGGGTCAG CCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGTCAGCC TTTGGTCTCGGGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGTCAGCCT TTGGTCTCGCGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGG TCTCGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCT CGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGCCAGCCTTTGGTCTCAC GGGGGGGTCAGCCTTTGGTCTCGGGGGCGGTCAGCCTTTGGTCTCGGGGG GTGTCAGCCTTTGGTCTCGGAGGGGGTCAGCCTTTGGTCTCGCGGGGGCG TCAGCCGTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179277906	C C	CCCCCCCC others(416): Show CCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAACGGCTGACGCC CCCGCGAGACCAAAGGCTGACCCCCTCCGAGACCAAAGGCTGACACCCCC CGAGACCAAAGGCTGACCGCCCCCGAGACCAAAGGCTGACCGCCCCCGAG ACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACC AAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCCGAGACCAAA GGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCGCGAGACCAAAGGCT GACCCCCCCCCCGAGACCAAAGGCTGACCCCCCCCCCCGAGACCAAAGGC TGACCCCCCCCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGA CCCCCCCGCGAGACCAAAGGCTGA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0063 a0002c0063	a0002c0063t0004 a0002c0063t0004	a0002c0063t0004g0058 a0002c0063t0004g0058	1	276	0.0036	423	c.535 others(440): Show c.535-4843_535-4842insTCAGCCTTTGGTCTCGCGGGGGGGTCAG CCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCT TTGGTCTCGGGGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGGTCAGCC TTTGGTCTCGCGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTG GTCTCGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTC TCGCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCG GGGGCGGTCAGCCTTTGGTCTCGGGGGCGGTCAGCCTTTGGTCTCGGGGG GTGTCAGCCTTTGGTCTCGGAGGGGGTCAGCCTTTGGTCTCGCGGGGGCG TCAGCCGTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTSL5_chr19_1500022_1518019	1500849	A A	AGGGGAAG others(416): Show AGGGGAAGAGGGAGGAGGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGA GGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGGAGGAGGG GAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGG GGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGA GGGGGGGAGAGGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGG GAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGG GGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAG GGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACG GGGGAGGAGGGGAGGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0028 a0001c0003t0001g0028	1	352	0.0028	423	c.51 others(434): Show c.5165_*5166insCCCTCCCCCCCTCCCCTCCTCCCCCGTCCCCTCC TCCCCGCCCTCCCCTCCTCCCCCCTCCCCCTCCCCTTCCCCTCCTCCCCC TCCCCTTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCTCCCCCTT CCCTCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCTTCCCTCCTCCCC CTCCCCTCCTCCCCTCTCCCCCTCCCCCCCTCTCCCCCCCTCCCCTCCTC CCTCCTCCCCCCTCCCCTCCTCCCCCCCTCCCCTCCTCCCCCCCTCCTCC CCCCTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCCCCCTCCCCTCCTCCC CCCCTCCCCTCCTCCCTCTTCCCCTCCTCCCTCCTCCCCCTCCCCCTCCC CCCTCCCCTCCTCCCCCCTCCCCCTCCTCCCTCTTCCCC	ADAMTSL5	ENSG00000185761.11	transcript	ENST00000330475.9	protein_coding		4172		chr19	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(416): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCTTCTCCTTCTTCCTTCTTCTTCCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0104 a0006c0008t0001g0104	1	188	0.0053	423	c.-1- others(438): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGGAAGAAGAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGAAGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(416): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCTCCTTCTTCTTCTCCTTCTTCCTTCTTCTTCCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	188	0.0053	423	c.-1- others(438): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG GAAGAAGAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGAAGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ADGRG2_chrX_18984307_19127468	19074546	T T	TCTTCTTC others(416): Show TCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTTCTTCTCCTTCTTCCTTCTTCTTCCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	188	0.0053	423	c.-1- others(438): Show c.-1-5712_-1-5711insGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGGAAGAAGAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGAAGAAG	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
APBB2_chr4_40805027_41219542	41159910	G G	GAGAAGGA others(416): Show GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0142 a0002c0005t0001g0142	1	192	0.0052	423	c.-41 others(444): Show c.-416-16769_-416-16768insTCTCCTTCTCCTTCTCCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTCCTTCTCCTTCTCCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT	APBB2	ENSG00000163697.18	transcript	ENST00000508593.6	protein_coding	1/17			chr4	TogoVar
ARFRP1_chr20_63693647_63712976	63693729	A A	ACCACCTC others(416): Show ACCACCTCCACCACCACCACCTCCACCACCACCACCTCCACCACCACCTC CACCACCTCCACCACCACCACCACCTCCTCCACCTCCACCACCTCCACCT CCACCACCTCCACCACCACCTCCACCACCACCACCTCCACCTCCACCACC ACCACCTCCACCTCCACCACCACCACCTCCACCACCTCCACCTCCACCAC CACCACCTCCACCACCTCCACCACCACCACCACCTCCACCACCACCACCA CCACCACCTCCACCACCTCCACCTCCACCACCACCACCACCACCACCTCC ACCACCACCTCCAACTCCACCACCTCCACCTCCACCTCCACCACCACCTC CACCACCACCTCCTCCACCTCCACCACCTCCACCACCACCTCCACCACCA CCTCCACCACCACCTCCTCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	296	0.0034	423	c.67 others(434): Show c.6713_*6714insAGGTGGAGGAGGTGGTGGTGGAGGTGGTGGTGGA GGTGGTGGTGGAGGTGGTGGAGGTGGAGGAGGTGGTGGTGGAGGTGGTGG TGGAGGTGGAGGTGGAGGTGGTGGAGTTGGAGGTGGTGGTGGAGGTGGTG GTGGTGGTGGTGGTGGAGGTGGAGGTGGTGGAGGTGGTGGTGGTGGTGGT GGTGGAGGTGGTGGTGGTGGTGGAGGTGGTGGAGGTGGTGGTGGTGGAGG TGGAGGTGGTGGAGGTGGTGGTGGTGGAGGTGGAGGTGGTGGTGGTGGAG GTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGAGGTGGAGGT GGTGGAGGTGGAGGAGGTGGTGGTGGTGGTGGAGGTGGTGGAGGTGGTGG TGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4917		chr20	TogoVar
ARHGAP39_chr8_144524179_144690846	144686977	C C	CCCCCGTG others(416): Show CCCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACGC ACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCAC TTCCCACCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGAC CACGCACTGGCGGCGAGCACTTCCCACCCCCGTGACCACGCACTGGCGGC GAGCACTTCCCACCCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACC CCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACTCATT TACAGCGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTT CCCACCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCA CACACTAGCAGTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02647.hp2 HG02622.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0231 a0001c0001t0001g0233	2	246	0.0081	423	c.-13 others(434): Show c.-1374_-1373insTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGG GTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC CGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGT CACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGT GCTCGCCGCCAGTGCGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTG CGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGT GGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCG CCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCAC GGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1132		chr8	TogoVar

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Search Results (Total: 10000 hits)