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
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(531): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTG GGGGGATCAGCCCCCCGCCCGGCCGGCCACCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	362	0.0028	538	c.-27 others(555): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGGTGGCCGGCCGGGCGGGGG GCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGCT GACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCG GACGGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(531): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCCGGCCGGCCGCCCAGTCTGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTG GGGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGGTGG GGGGGGTCAGCCCCCCACCTGGCCAGCCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	362	0.0028	538	c.-27 others(555): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGGCTGGCCAGGTGGGGG GCTGACCCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGG GCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCG GACGGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(531): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCAGTCTGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTG TGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGTGG GGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGGTGGG GGGGTCAGCCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGGAGGTGG GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	362	0.0028	538	c.-27 others(555): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGATCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCCCACCTCCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGG GGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGG GCTGACCCCCACACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCG GACGGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
OR6J1_chr14_22625929_22649352	22637546	G G	GCCGCCCC others(531): Show GCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGGCCGGCCGCCCAGTCTGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCCGCCCGGCCGGCCGCCCCGTCCGGGAGGGAGGT GGGGGGATCAGCCCCCCGCCCGGCCGGCCACCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGTCAGCCCCCCGCCCGGCCAGCCCGCCCCGTCCGGGAGGGAGGTG GGGGGATCAGCCCCCCGCCTGGCCAGCCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0294 a0001c0001t0006g0294	1	362	0.0028	538	c.-27 others(555): Show c.-27-2709_-27-2708insGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGGCTGGCCAGGCGGGGG GCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGGCTGGCCGGGCGGGGG GCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGTGGCCGGCCGGGCGGGGGG CTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCAGACTGGGCGGCCGGCCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCG GACGGGGCGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
PRDM16_chr1_3064203_3443621	3351532	C C	CCTCCTCT others(531): Show CCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCACCTCCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTTCCCCTCCC TCTCTCCCCTCCCTCTCTCCCCTCCCTCTTTCCCCCCCCTCCTTCTCTCT CCCCTTCCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCC TTCCTCTTTCTCTCCCTCCCTCTCCTTCCCCTCCCTCCCACTCTCCCCCT CCCTCTCTCCCCCTTTCCCTCCCTCTCTCCCCCTCTCTCTCTTCTGCTCC TTCTCTCTCCCCCTTCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTC TCATCCCCTTCCTCTTTCTCTCCCTCTCTCTTCCCCTCCCTCCCTCTCTC CCCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTCTCCCCTCCCTC TCCTCCCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCC CCTCCTTCTCTCTCCCCTCCCTCTCTCCCCTCCCTCTCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02895.hp2 HG02572.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0087 a0001c0001t0042 a0001c0001t0087	a0001c0001t0042g0124 a0001c0001t0087g0062 a0001c0001t0042g0124 a0001c0001t0087g0062	2	210	0.0095	538	c.439 others(557): Show c.439-33619_439-33618insTCCTCTCTCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCCACCTCCCCCCTCCCTCTCTCCC CCTCCTTCTCTCTTCCCCTCCCTCTCTCCCCTCCCTCTCTCCCCTCCCTC TTTCCCCCCCCTCCTTCTCTCTCCCCTTCCCTCTCTCCCCTCCCTCTCTG TCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCCCTCTCCTTC CCCTCCCTCCCACTCTCCCCCTCCCTCTCTCCCCCTTTCCCTCCCTCTCT CCCCCTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTTCCTCTCTCCCCTC CCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCTC TCTTCCCCTCCCTCCCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCTCC CCCTCCCTCTCTCCCCTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCTCCC TCTCTCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTCTCC CCTCCCTCTCTC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTK2B_chr8_27320552_27464386	27438462	C C	CTGATTCT others(531): Show CTGATTCTATGGAAAGCCACATCAGGGGATAAAACCCTGCATTCATTCAT TCATTCATTCATCCAACAAATACCATGGAACACCTCTCAGTGCCAGGCAG TGACCTAGGCTCTGGGACAAAGTCGTGACGAAAACAAGCAAAACTCCTTT TCCTCGTGAAGCTTACTTTCTAGCATGAGAGTCAAACTGGAGACATCAAT TGTCAGGACAAAGGTGGTGGGAGGATAGATTTGTTTCTTTTGTTTATTTG AAGTGGCCATGCTTTTAAGTCATCATTTCAACTATAAAAACAAACACTAG AGAGTGGAGCCTGCCTGTGAGAAGCAAGCAGGCAAACTAGTTTGGGGTTG GGAGTGATGGCAAGAACACAGGGTAAACTGAGTCAGCGGTGTGTCTCCTG GGAGGAATGAGAGCTCAGCTCTGGAGTAGCCTACCTGTGGGACACCCTTT TCCACTGGTGAGCTGCTGGGCAAGTTCCTTCAGCTCTCTGGGTCCGGTCT CCTCCCCTGCACCAGGGGGGTCTGAGGGTCTCTATGTCA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG02895.hp1 others(1): Show HG01070.hp2 HG01071.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0277 a0001c0007t0003g0278 a0001c0007t0003g0280 others(1): Show a0001c0007t0003g0277 a0001c0007t0003g0278 a0001c0007t0003g0280 a0001c0007t0003g0281	4	328	0.0122	538	c.164 others(555): Show c.1644-566_1644-565insTTCTATGGAAAGCCACATCAGGGGATAA AACCCTGCATTCATTCATTCATTCATTCATCCAACAAATACCATGGAACA CCTCTCAGTGCCAGGCAGTGACCTAGGCTCTGGGACAAAGTCGTGACGAA AACAAGCAAAACTCCTTTTCCTCGTGAAGCTTACTTTCTAGCATGAGAGT CAAACTGGAGACATCAATTGTCAGGACAAAGGTGGTGGGAGGATAGATTT GTTTCTTTTGTTTATTTGAAGTGGCCATGCTTTTAAGTCATCATTTCAAC TATAAAAACAAACACTAGAGAGTGGAGCCTGCCTGTGAGAAGCAAGCAGG CAAACTAGTTTGGGGTTGGGAGTGATGGCAAGAACACAGGGTAAACTGAG TCAGCGGTGTGTCTCCTGGGAGGAATGAGAGCTCAGCTCTGGAGTAGCCT ACCTGTGGGACACCCTTTTCCACTGGTGAGCTGCTGGGCAAGTTCCTTCA GCTCTCTGGGTCCGGTCTCCTCCCCTGCACCAGGGGGGTCTGAGGGTCTC TATGTCATGA	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	18/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
RABL6_chr9_136802948_136846187	136803215	G G	GGGGGCCC others(531): Show GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0291 a0001c0001t0003g0291	1	330	0.0030	538	c.-49 others(549): Show c.-4982_-4981insGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4732		chr9	TogoVar
RASA3_chr13_113972783_114137623	114099909	A A	ACCCCACA others(531): Show ACCCCACAGCCCCCCCACAGCCCCCCCACAGCCCCCCCACAGCCCCCACA GCAGCCCCCCCACAGCCCCCACAGCAGCCCCCCACAGCAGCCCCCCCACA GCCCCCCCACAGCCCCCCCACAGCCCCCCACAGCCCCCCACAGCAGCCCC CCCACAGCAGCCCCCCACAGCCCCCCCACAGCCCCCCACAGCCCCCCACA GCAGCCCCCCCACAGCAGCCCCCCCACAGCAGCCCCCCACAGCCCCCCCA CAGCCCCCACAGCAGCCCCCCGTAGCCCCCACCCCACAGCCCCCCCACAG CCCCCCCACAGCCCCCCACAGCCCCCCACAGCAGCCCCCCCACAGCAGCC CCCCACAGCCCCCACAGCAGCCCCCCGTAGCCCCCACCCCACAGCCCCCC CACAGCCCCCCCACAGCCCCCCCACAGCCCCCACAGCAGCCCCCCCACAG CCCCCACAGCCCCCACAGCCCCCACAGCCCCCCCACAGCCCCCCACAGCA GCCCCCCCACAGCCCCCCACAGCAGCCCCCCCACAGCCC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	67	0.0149	538	c.56- others(555): Show c.56-26073_56-26072insGGGCTGTGGGGGGGCTGCTGTGGGGGGC TGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGCTGTGGG GGCTGTGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGTG GGGGGGCTGTGGGGGGGCTGTGGGGTGGGGGCTACGGGGGGCTGCTGTGG GGGCTGTGGGGGGCTGCTGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGG CTGTGGGGGGGCTGTGGGGGGGCTGTGGGGTGGGGGCTACGGGGGGCTGC TGTGGGGGCTGTGGGGGGGCTGTGGGGGGCTGCTGTGGGGGGGCTGCTGT GGGGGGGCTGCTGTGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGG GCTGCTGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGCTGTGGGGGGGC TGTGGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGCTGCTGTGGGGGCTGT GGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGTGGGGG GGCTGTGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RGS12_chr4_3288021_3444913	3341671	G G	GGAGGGTG others(531): Show GGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGG GTGTGGGCGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACAAG GGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGG GAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGGAGAGAT GGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGG AGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATGGGGG TGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGGTGG AGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTGGGGGTGTGGGG GGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGA TGGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGA GGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA19005.hp1 HG00597.hp1 NA19005.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0167 a0001c0004t0001g0190 a0001c0004t0001g0167 a0001c0004t0001g0190	2	312	0.0064	538	c.188 others(557): Show c.1882-1263_1882-1262insGGTGGAGAGTTGGGGGTGTGGGGGGA GGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATGG GGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGGAGGGAGGG TGGAGAGATGGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGG GGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAG TTGGGGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGG GGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGG TGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGT GGAGAGTTGGGGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGG CGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGGAGGGGACAAGGGTGGAG AGATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGG GAGGGTGGAGAG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RTN1_chr14_59590983_59875776	59750547	T T	TATATATA others(531): Show TATATATATCTATAATATATATAATATATCTATAATATATATATCTATAA TATATATAATATATCTATAATATATAATATATCTATAATATATATATTAT ATCTATAATATATAATATATCTATAATATATATATTATATCTATAATATA TAATATATCTATAATATATATATTATATCTATAATATATATCTATAATAT ATATATTATATCTATAATATATAATATATCTATAATATATATATTATATC TATAATATATAATATATCTATAATATATATATTATATCTATAATATATAA TATATCTATAATATATATATTATATCTATAATATATAATATATCTATAAT ATATAATATATCTATAATATATATATTATATATATAATATATAATATATT ATATATATAATATATAATATATTATATATATAATATATAATATATTATAT CTATAATATATTATATGTAATATATATATGTTATATCTATAATATATATT ATATCTATAATATATAATATATTATATCTATAATATATA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	172	0.0058	538	c.242 others(555): Show c.242-4067_242-4066insTATATATTATAGATATAATATATTATAT ATTATAGATATAATATATATTATAGATATAACATATATATATTACATATA ATATATTATAGATATAATATATTATATATTATATATATAATATATTATAT ATTATATATATAATATATTATATATTATATATATAATATATATATTATAG ATATATTATATATTATAGATATATTATATATTATAGATATAATATATATA TTATAGATATATTATATATTATAGATATAATATATATATTATAGATATAT TATATATTATAGATATAATATATATATTATAGATATATTATATATTATAG ATATAATATATATATTATAGATATATATTATAGATATAATATATATATTA TAGATATATTATATATTATAGATATAATATATATATTATAGATATATTAT ATATTATAGATATAATATATATATTATAGATATATTATATATTATAGATA TATTATATATATTATAGATATATATATTATAGATATATTATATATATTAT AGATATATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
SCGB1C2_chr17_132569_144067	139431	G G	GTGGGGAC others(531): Show GTGGGGACATCAGGAACACAGGGCCACAGCCACACACACAGACCCACATA CAGAGGATCCCACTCAAGGAACACACGTGTGAAAGTCCCCACAGAGGGGC ACGCAAATGGGGACATCAGGAACACAGGGCCACAGCCACACACACAGACC CACACACAGAGGATCCCACTCAAGGAGCACACGTGCGAAAGTCCCCACAG AGGGGCACGCAAATGGGGACATCAGGAACACACTCAGGGCCACAGCCACA CACACAGACCCACATACAGAGGATCCCACTCAAGAAGCACAAGTGCGAAA GTCCCCACAGAGGGGCACGCAAATGGGGACATCAGGAACACACTCAGGGC CACAGCCACACACACAGACCCACATACAGAGGATCCCACTCAAGAAGCAC AAGTGCGAAAGTCCCCACAGAGGGGCACGCAAATGGGGACATCAGGAACA CAGGGCCACAGCCACACACACAGACCCACACACAGAGGATCCCACTCAAG GAGCACACGTGCGAAAGTCCCCACAGAGGGACACACAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	402	0.0025	538	c.48 others(547): Show c.489_*490insTGGGGACATCAGGAACACAGGGCCACAGCCACACAC ACAGACCCACATACAGAGGATCCCACTCAAGGAACACACGTGTGAAAGTC CCCACAGAGGGGCACGCAAATGGGGACATCAGGAACACAGGGCCACAGCC ACACACACAGACCCACACACAGAGGATCCCACTCAAGGAGCACACGTGCG AAAGTCCCCACAGAGGGGCACGCAAATGGGGACATCAGGAACACACTCAG GGCCACAGCCACACACACAGACCCACATACAGAGGATCCCACTCAAGAAG CACAAGTGCGAAAGTCCCCACAGAGGGGCACGCAAATGGGGACATCAGGA ACACACTCAGGGCCACAGCCACACACACAGACCCACATACAGAGGATCCC ACTCAAGAAGCACAAGTGCGAAAGTCCCCACAGAGGGGCACGCAAATGGG GACATCAGGAACACAGGGCCACAGCCACACACACAGACCCACACACAGAG GATCCCACTCAAGGAGCACACGTGCGAAAGTCCCCACAGAGGGACACACA AA	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		365		chr17	TogoVar
SCGB1C2_chr17_132569_144067	139491	C C	CACTCAAG others(531): Show CACTCAAGGAGCACACGTGCGAAAGTCCCCACAGAGGGGCACGCAAATGG GGACATCAGGAACACACTCAGGGCCACAGCCACACACACAGACCCACATA CAGAGGATCCCACTCAAGAAGCACAAGTGCGAAAGTCCCCACAGAGGGGC ACACAAATGGGGACATCAGGAACACACTCGGGGCCACAGCCACACACACA GACCCACATACAGAGGATCCCACTCAAGGAGCACACGTGCAAAAGTCCCC ACAGAGGGGCACACAAGTGGGGACATCAGGAACACAGGGCCACAGCCACA CACACAGACCCACATACAGAGGATCCCACTCAAGGAACACACGTGTGAAA GTCCCCACAGAGGGACACACAAATGGGGACATCAGGAACACAGGGCCACA GCCACACACACAGACCCACATACAGAGGATCCCACTCAAGGAGCACACGT GCGAAAGTCCCCACAGAGGGACACACAAATGGGGACATCAGGAACACAGG GCCACAGCCACACACACAGACCCACATACAGAGGATCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01167.hp2 HG00280.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	2	402	0.0050	538	c.54 others(547): Show c.549_*550insACTCAAGGAGCACACGTGCGAAAGTCCCCACAGAGG GGCACGCAAATGGGGACATCAGGAACACACTCAGGGCCACAGCCACACAC ACAGACCCACATACAGAGGATCCCACTCAAGAAGCACAAGTGCGAAAGTC CCCACAGAGGGGCACACAAATGGGGACATCAGGAACACACTCGGGGCCAC AGCCACACACACAGACCCACATACAGAGGATCCCACTCAAGGAGCACACG TGCAAAAGTCCCCACAGAGGGGCACACAAGTGGGGACATCAGGAACACAG GGCCACAGCCACACACACAGACCCACATACAGAGGATCCCACTCAAGGAA CACACGTGTGAAAGTCCCCACAGAGGGACACACAAATGGGGACATCAGGA ACACAGGGCCACAGCCACACACACAGACCCACATACAGAGGATCCCACTC AAGGAGCACACGTGCGAAAGTCCCCACAGAGGGACACACAAATGGGGACA TCAGGAACACAGGGCCACAGCCACACACACAGACCCACATACAGAGGATC CT	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		425		chr17	TogoVar
SEL1L2_chr20_13844247_13995614	13934322	G G	GTATTCCA others(531): Show GTATTCCATATATATATATTCCATATATATATATATTCCATATATATATA TTCCATATATATATATATTCCATATATATATATTCCATATATATATATAT TCCATATATATATATTCCATATATATATATATATTCCATATATATATATT CCATATATATATATTCCATATATATATATATATTCCATATATATATATTC CATATATATATATATTCCATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATTCCATATATATATTCCATATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATATTCCATATATATATATATTCCATATATATATATTCCATATATATA TATTCCATATATATATATTCCATATATATATATATTCCATATATATATAT TCCATATATATATATATTCCATATATATATATTCCATATATATATATTCC ATATATATATATTCCATATATATATATTCCATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	324	0.0031	538	c.115 others(555): Show c.115-2552_115-2551insTATATATATGGAATATATATATATGGAA TATATATATATGGAATATATATATATGGAATATATATATATGGAATATAT ATATATATGGAATATATATATATGGAATATATATATATATGGAATATATA TATATGGAATATATATATATGGAATATATATATATGGAATATATATATAT ATGGAATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATGGAATATATATATGGAATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATGGAATAT ATATATATATGGAATATATATATATGGAATATATATATATATATGGAATA TATATATATGGAATATATATATATGGAATATATATATATATATGGAATAT ATATATATGGAATATATATATATATGGAATATATATATATGGAATATATA TATATATGGAATATATATATATGGAATATATATATATATGGAATATATAT ATATGGAATA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SERPINF2_chr17_1737871_1760265	1739135	A A	AGCCTGAT others(531): Show AGCCTGATGCAGGGAGTGAGGAACAGGACAGTGAGGCTGGGAAGGAGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAG GAACAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCA GGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGAGCAGGTGT GAGGGCGGGAAGCGGCCTGATTCAGGGAGTGAGGCGCAGGACAGTGAGGG TGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGA AGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGG CCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGA TGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 NA19002.hp1 HG00639.hp2 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0088 a0002c0002t0001g0005 a0002c0002t0001g0088	2	445	0.0045	538	c.-37 others(549): Show c.-3778_-3777insGCCTGATGCAGGGAGTGAGGAACAGGACAGTGAG GCTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGG GAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGAACAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGA GTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGATTCAGGGAGTGAGGC GCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGG ACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGT GAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGG TGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGA GGCG	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3735		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739135	A A	AGCCTGAT others(531): Show AGCCTGATGCAGGGAGTGAGGAACAGGACAGTGAGGCTGGGAAGGAGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAG GAACAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCA GGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGAGCAGGTGT GAGGGCGGGAAGCGGCCTGATTCAGGGAGTGAGGCGCAGGACAGTGAGGG TGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGA AGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCGG CCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGA TGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0014	1	445	0.0023	538	c.-37 others(549): Show c.-3778_-3777insGCCTGATGCAGGGAGTGAGGAACAGGACAGTGAG GCTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGG GAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGAACAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGA GTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGATTCAGGGAGTGAGGC GCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGG ACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGT GAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGG TGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGA GGCG	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3735		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739270	A A	AGCCTGAT others(531): Show AGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGAACAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAG GAGCAGGTGTGAGGGCGGGAAGCGGCCTGATTCAGGGAGTGAGGCGCAGG ACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGT GAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGG TGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGA AGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCGG CCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGA TGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	445	0.0023	538	c.-36 others(549): Show c.-3643_-3642insGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGG GAAGGAGCCTGATGCAGGGAGTGAGGAACAGGACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCT GATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGATTCAG GGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGT GAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGA GCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGG ACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGT GAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGG TGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGA GGCG	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3600		chr17	TogoVar
SIMC1_chr5_176233424_176350989	176305290	C C	CCAGCCAC others(531): Show CCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCTGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGC CAACCCCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGC AGCCACCCCATCTGGGAAGTGAGGAGCCTCTCCGCCCGG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0359 a0001c0001t0001g0359	1	360	0.0028	538	c.173 others(557): Show c.1735-8370_1735-8369insGGTCAGCCCCCCGCCTGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCC CCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCC CATCTGGGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCGTCCGGGAG GGAGGTGGGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305290	C C	CCAGCCAC others(531): Show CCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCTCCGCCCGGC CAACCCCCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGC AGCCACCCCATCTGGGAAGTGAGGAGCCTCTCCGCCCGG	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	360	0.0028	538	c.173 others(557): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCC CCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCC CATCTGGGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCGTCCGGGAG GGAGGTGGGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305290	C C	CCAGCCAC others(531): Show CCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCTCCGCCCGGC CAACCCCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGC AGCCACCCCATCTGGGAAGTGAGGAGCCTCTCCGCCCGG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	360	0.0028	538	c.173 others(557): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCC CCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCC CATCTGGGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCGTCCGGGAG GGAGGTGGGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305290	C C	CCAGCCAC others(531): Show CCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCC AACCCCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGGGGGTCAGCCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGC AGCCACCCCATCTGGGAAGTGAGGAGCCTCTCCGCCCGG	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	360	0.0028	538	c.173 others(557): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG GGGGGTCAGCCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCC CATCTGGGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCGTCCGGGAG GGAGGTGGGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305290	C C	CCAGCCAC others(531): Show CCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCC AACCCCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGGGGGGTCAGCCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGC AGCCACCCCATCTGGGAAGTGAGGAGCCTCTCCGCCCGG	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	360	0.0028	538	c.173 others(557): Show c.1735-8370_1735-8369insGTCAGCCCCCCGCCTGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG GGGGGTCAGCCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCC CATCTGGGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCGTCCGGGAG GGAGGTGGGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176305315	T T	TGGGGGGG others(531): Show TGGGGGGGTCAGCCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCCCCGTCTGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGGGTCAGCCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCAGCTGCCCCGTCTGAG AAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAG CCTCTCCGCCCGGCAGCCACCCCGTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	360	0.0028	538	c.173 others(557): Show c.1735-8370_1735-8369insGTCAGCCCCCCCGCCTGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAACCCCC CCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG GGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CAGCTGCCCCGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCC ATCTGGGAAGTGAGGAGCCTCTCCGCCCGGCAGCCACCCCGTCCGGGAGG GAGGTGGGGGGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1073257	C C	CAGCCCCC others(531): Show CAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTT ATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCC CCAGTGAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGC CCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGA GCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGC ACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCA GCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGG CATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACT TATGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCC CCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAG CCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0011 a0001c0006t0011	a0001c0006t0011g0079 a0001c0006t0011g0079	1	118	0.0085	538	c.224 others(555): Show c.2241+375_2241+376insCACTGGGGGCTGCATAAGTGTGATGCCG TGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGG GGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACT GGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGCTGCA TAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGA TGCCCGTGTGCTGGGGGCTCACTGGGGGCTCACTGGGGGCTGCATAAGTG TGATGCCGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCCGT GTGCTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGG GCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTG GGGCTCACTGGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGGCTCACT GGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTC ACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SMYD3_chr1_245744347_246512279	246325127	G G	GGGGGGCG others(531): Show GGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAA GGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAG GGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGG AAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGG GGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGA GTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGG AGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGG AAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGG GGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGA GTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGG AGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTC	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0103 a0002c0003t0001g0103	1	150	0.0067	538	c.531 others(555): Show c.531+2073_531+2074insGACTCCTTCTCCCTCCTTCCTGCCCCCC CGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCC GCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCC TCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCGACTCCT TCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCC CGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCC GCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCC TCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCT TCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCG ACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGC CCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCT TCCCGCCCCC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246325271	G G	GGGGGGCA others(531): Show GGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAGAA GGAGTCGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGAG GGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGG GAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGG GGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGA GTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGG AGAAGGAGTCGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAA GGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGG GGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAG TCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGCGGGGCGGGAAGGAGGGAG AAGGAGTCGCGGGGGCGGGAAGGAGGGAGAAGGAGTCGC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0077 a0001c0002t0002g0077	1	150	0.0067	538	c.531 others(555): Show c.531+1929_531+1930insGCGACTCCTTCTCCCTCCTTCCCGCCCC CGCGACTCCTTCTCCCTCCTTCCCGCCCCGCGACTCCTTCTCCCTCCTTC CCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCC TCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTC CTTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCC CGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCT GCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCT CCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCGACTCCTT CTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCG ACTCCTTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCTGC CCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCT TCCTGCCCCC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SPATA13_chr13_24155720_24312069	24190091	A A	AATGATAT others(531): Show AATGATATATAATATATATCATTATATAACATATAATGATATATAATATA TATCATTATATAACATATAATGATATATAATATATATCATTATATAACAT ATAATGATATATAATATATATCATTATATAACATATAATGATATATAATA TATATCATTATATAACATATAATGATATATAATATATATCATTATATAAC ATATAATGATATATAATATATATCATTATATAACATATAATGATATATAA TATATATCATTATATAACATATAATGATATATAATATATATCATTATATA ACATATAATGATATATAATATATATCATTATATAACATATAATGATATAT AATATATATCATTATATAACATATAATGATATATAATATATATCATTATA TAACATATAATGATATATAATATATATCATTATATAACATATAATGATAT ATAATATATATCATTATATAACATATAATGATATATAATATATATCATTA TATAACATATAATGATATATAATATATATCATATAACAT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0325 a0001c0005t0003g0325	1	356	0.0028	538	c.-11 others(559): Show c.-112+29167_-112+29168insTAATATATATCATTATATAACATA TAATGATATATAATATATATCATTATATAACATATAATGATATATAATAT ATATCATTATATAACATATAATGATATATAATATATATCATTATATAACA TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACATATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATA TAACATATGATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24190154	T T	TATAATGA others(531): Show TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACATATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TATAACATATGATATATAATATATATCATATAACATATG	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0254 a0001c0004t0012g0254	1	356	0.0028	538	c.-11 others(559): Show c.-112+29225_-112+29226insATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATTATATAACATATA ATGATATATAATATATATCATTATATAACATATAATGATATATAATATAT ATCATTATATAACATATAATGATATATAATATATATCATTATATAACATA TAATGATATATAATATATATCATATAACATATGATATATAATATATATCA TATAACATATGATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(531): Show TGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGG GGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCC AGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGC CTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGG GGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTG GGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGG TGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAG TTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	422	0.0024	538	c.64 others(549): Show c.6483_*6484insCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCA GGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTCCACCCCCGC TGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAA CTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGC CCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTC CACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCCACCC CCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCGCTGG GCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCC CCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642231	G G	GGGGGGGG others(531): Show GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGG TGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGA GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGG AGTTGCCTGGGGAGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGC CCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTT GCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAGC GGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGG GGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	422	0.0024	538	c.64 others(549): Show c.6482_*6483insACAGGCAACTCCACCCCCGCTGGGCCCCCCACCA CAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGC TGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGC AACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCA CCCCCGCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCC GCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCTCCCCAGG CAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCT GGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAA CCCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCC CCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4383		chr20	TogoVar
SYNGR2_chr17_78163581_78177720	78175213	A A	AGGTGGGT others(531): Show AGGTGGGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTAGCACGGGTGAAAG TTTTATTTCAGACATGGAGTAAAAAAAAAAATTGATTCGATCTAAATTTC CTAAGATGAGGCTAAATAGGAAGAAAGATACTGTTAAAACTATTCAATTA CAGAACTGATTAGTTTTACGAGTCTTTAAAGCTGCAACTTTCTTACTATG TAGCTTTATCCTGGAACCAAGAGCCATCCCTACCATGTCAAGTGTAGGCC CTTAATTAGAAATGATAAGTAACATTATTTGGGGAGTTAATCAGAAAACC AAACAAAAAGCTCCGTTTTTGTTTTGTGTTTTCTTTCTTCTTTCTTTTTT TTTTTTTTTTTAATTTATTTATTTTTTTTTTATTGATCATTCTTGGGCGT TTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAG GTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGG ACCCTGCGGCCTTGGCCTTCCGCAGTGTTTGTGTCCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG01109.hp2 HG01884.hp1 others(14): Show HG00673.hp1 HG01109.hp2 HG01884.hp1 HG01928.hp2 HG01981.hp2 HG01993.hp1 HG02129.hp2 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02809.hp2 HG02976.hp2 HG03195.hp1 NA18945.hp2 NA18965.hp1 NA18998.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0046 a0001c0001t0001g0051	17	450	0.0378	538	c.32 others(549): Show c.3277_*3278insGGTGGGTTTTTCTTTTTTTTTTTTTTTTTTTTTT TAGCACGGGTGAAAGTTTTATTTCAGACATGGAGTAAAAAAAAAAATTGA TTCGATCTAAATTTCCTAAGATGAGGCTAAATAGGAAGAAAGATACTGTT AAAACTATTCAATTACAGAACTGATTAGTTTTACGAGTCTTTAAAGCTGC AACTTTCTTACTATGTAGCTTTATCCTGGAACCAAGAGCCATCCCTACCA TGTCAAGTGTAGGCCCTTAATTAGAAATGATAAGTAACATTATTTGGGGA GTTAATCAGAAAACCAAACAAAAAGCTCCGTTTTTGTTTTGTGTTTTCTT TCTTCTTTCTTTTTTTTTTTTTTTTTAATTTATTTATTTTTTTTTTATTG ATCATTCTTGGGCGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGAC AATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGT TTTCCTAGGCAGAGGACCCTGCGGCCTTGGCCTTCCGCAGTGTTTGTGTC CCTG	SYNGR2	ENSG00000108639.8	transcript	ENST00000225777.8	protein_coding		2494		chr17	TogoVar
SYNGR2_chr17_78163581_78177720	78175213	A A	AGGTGGGT others(531): Show AGGTGGGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTAGCACGGGTGAAAG TTTTATTTCAGACATGGAGTAAAAAAAAAAGTTGATTCGATCTAAATTTC CTAAGATGAGGCTAAATAGGAAGAAAGATACTGTTAAAACTATTCAATTA CAGAACTGATTAGTTTTACGAGTCTTTAAAGCTGCAACTTTCTTACTATG TAGCTTTATCCTGGAACCAAGAGCCATCCCTACCATGTCAAGTGTAGGCC CTTAATTAGAAATGATAAGTAACATTATTTGGGGAGTTAATCAGAAAACC AAACAAAAAGCTCCGTTTTTGTTTTGTGTTTTCTTTCTTCTTTCTTTTTT TTTTTTTTTTTAATTTATTTATTTTTTTTTTATTGATCATTCTTGGGCGT TTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAG GTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGG ACCCTGCGGCCTTGGCCTTCCGCAGTGTTTGTGTCCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00741.hp2 HG01069.hp1 others(24): Show HG00609.hp1 HG00741.hp2 HG01069.hp1 HG01109.hp1 HG01496.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02056.hp2 HG02148.hp1 HG02293.hp1 HG02738.hp1 HG03491.hp1 HG03710.hp1 NA18947.hp1 NA18953.hp2 NA18960.hp1 NA18974.hp1 NA18990.hp2 NA18998.hp1 NA19009.hp2 NA19055.hp1 NA19077.hp2 NA19082.hp2 NA19085.hp1 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0001t0005 a0001c0014t0001 a0001c0001t0001 a0001c0001t0005 a0001c0014t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0039 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0005g0003 a0001c0001t0005g0005 a0001c0014t0001g0003	27	450	0.0600	538	c.32 others(549): Show c.3277_*3278insGGTGGGTTTTTCTTTTTTTTTTTTTTTTTTTTTT TAGCACGGGTGAAAGTTTTATTTCAGACATGGAGTAAAAAAAAAAGTTGA TTCGATCTAAATTTCCTAAGATGAGGCTAAATAGGAAGAAAGATACTGTT AAAACTATTCAATTACAGAACTGATTAGTTTTACGAGTCTTTAAAGCTGC AACTTTCTTACTATGTAGCTTTATCCTGGAACCAAGAGCCATCCCTACCA TGTCAAGTGTAGGCCCTTAATTAGAAATGATAAGTAACATTATTTGGGGA GTTAATCAGAAAACCAAACAAAAAGCTCCGTTTTTGTTTTGTGTTTTCTT TCTTCTTTCTTTTTTTTTTTTTTTTTAATTTATTTATTTTTTTTTTATTG ATCATTCTTGGGCGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGAC AATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGT TTTCCTAGGCAGAGGACCCTGCGGCCTTGGCCTTCCGCAGTGTTTGTGTC CCTG	SYNGR2	ENSG00000108639.8	transcript	ENST00000225777.8	protein_coding		2494		chr17	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(531): Show ACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCC CCCCACCATCTCCCATCCTATCCACCCCCCCCACCCACCATCCCCCATCC TATCCACCCACCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCC ATCCTATCCACCCCCCCCACATCCATCCTATCCACCCACCCACCCACCAT CCACCATCCTATCCACCCACCCATCATCCACTATCCATCCACCACCCCCA CACCCATCCTATCCACCCACCCATCATCCACCATCCACTCACCCTCCATC CACTATCCATCCACCCACCCGCCATCCACCCACCATCCCCCATCCACCTA CTCACCCACCCGTTCTATACATCTACCTACCCATTCTGTCTGTCCACCCA CCCATCATATCCATCCACCCACCTACCCATCCATCCTATCCATCCACCCA TCCACCCACCGTATCTATCCACCCACCCACACTGTCCATCCACCCACCCA CCCATCCACCCACCCACCTATCCTATTCATCCATCCACC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0253 a0001c0001t0002g0253	1	258	0.0039	538	c.113 others(557): Show c.113-25872_113-25871insCATCCCCCATCCTATCCACCCACCCA CCATCCCCCATCCTATCCACCCCCCCACCATCTCCCATCCTATCCACCCC CCCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCT ATCCACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACATCCATCC TATCCACCCACCCACCCACCATCCACCATCCTATCCACCCACCCATCATC CACTATCCATCCACCACCCCCACACCCATCCTATCCACCCACCCATCATC CACCATCCACTCACCCTCCATCCACTATCCATCCACCCACCCGCCATCCA CCCACCATCCCCCATCCACCTACTCACCCACCCGTTCTATACATCTACCT ACCCATTCTGTCTGTCCACCCACCCATCATATCCATCCACCCACCTACCC ATCCATCCTATCCATCCACCCATCCACCCACCGTATCTATCCACCCACCC ACACTGTCCATCCACCCACCCACCCATCCACCCACCCACCTATCCTATTC ATCCATCCACCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(531): Show ACCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTATCCACCC CCCCACCATCTCCCATCCTATCCACCCCCCCCACCCACCATCCCCCATCC TATCCACCCACCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCC ATCCTATCCACCCCCCCCACATCCATCCTATCCACCCACCCACCCACCAT CCACCATCCTATCCACCCACCCATCATCCACTATCCATCCACCACCCCCA CACCCATCCTATCCACCCACCCATCATCCACCATCCACTCACCCTCCATC CACTATCCATCCACCCACCCGCCATCCACCCACCATCCCCCATCCACCTA CTCACCCACCCGTTCTATACATCTACCTACCCATTCTGTCTGTCCACCCA CCCATCATATCCATCCACCCACCTACCCATCCATCCTATCCATCCACCCA TCCACCCACCGTATCTATCCACCCACCCACACTGTCCATCCACCCACCCA CCCATCCACCCACCCACCTATCCTATTCATCCATCCACC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0042 a0001c0001t0004g0042	1	258	0.0039	538	c.113 others(557): Show c.113-25872_113-25871insCATCCCCCATCCTATCTACCCCCCCA CCATCCCCCATCCTATCCACCCCCCCACCATCTCCCATCCTATCCACCCC CCCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCT ATCCACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACATCCATCC TATCCACCCACCCACCCACCATCCACCATCCTATCCACCCACCCATCATC CACTATCCATCCACCACCCCCACACCCATCCTATCCACCCACCCATCATC CACCATCCACTCACCCTCCATCCACTATCCATCCACCCACCCGCCATCCA CCCACCATCCCCCATCCACCTACTCACCCACCCGTTCTATACATCTACCT ACCCATTCTGTCTGTCCACCCACCCATCATATCCATCCACCCACCTACCC ATCCATCCTATCCATCCACCCATCCACCCACCGTATCTATCCACCCACCC ACACTGTCCATCCACCCACCCACCCATCCACCCACCCACCTATCCTATTC ATCCATCCACCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(531): Show ACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCTACCC CCCCACCATCTCCCATCCTATCCACCCCCCCCACCCACCATCCCCCATCC TATCCACCCACCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCC ATCCTATCCACCCCCCCCACATCCATCCTATCCACCCACCCACCCACCAT CCACCATCCTATCCACCCACCCATCATCCACTATCCATCCACCACCCCCA CACCCATCCTATCCACCCACCCATCATCCACCATCCACTCACCCTCCATC CACTATCCATCCACCCACCCGCCATCCACCCACCATCCCCCATCCACCTA CTCACCCACCCGTTCTATACATCTACCTACCCATTCTGTCTGTCCACCCA CCCATCATATCCATCCACCCACCTACCCATCCATCCTATCCATCCACCCA TCCACCCACCGTATCTATCCACCCACCCACACTGTCCATCCACCCACCCA CCCATCCACCCACCCACCTATCCTATTCATCCATCCACC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	258	0.0039	538	c.113 others(557): Show c.113-25872_113-25871insCATCCCCCATCGTATCCACCCACCCA CCATCCCCCATCCTATCTACCCCCCCACCATCTCCCATCCTATCCACCCC CCCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCT ATCCACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACATCCATCC TATCCACCCACCCACCCACCATCCACCATCCTATCCACCCACCCATCATC CACTATCCATCCACCACCCCCACACCCATCCTATCCACCCACCCATCATC CACCATCCACTCACCCTCCATCCACTATCCATCCACCCACCCGCCATCCA CCCACCATCCCCCATCCACCTACTCACCCACCCGTTCTATACATCTACCT ACCCATTCTGTCTGTCCACCCACCCATCATATCCATCCACCCACCTACCC ATCCATCCTATCCATCCACCCATCCACCCACCGTATCTATCCACCCACCC ACACTGTCCATCCACCCACCCACCCATCCACCCACCCACCTATCCTATTC ATCCATCCACCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TERT_chr5_1248167_1300068	1273451	C C	CACGACCG others(531): Show CACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCACCATCCAC AGTCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACC CCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCACCATCCA CAGTCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGAC CCTACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCAT CCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACA TCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGAC CGCCATCCACAGTCACCACATCAGACCCCACGACCACCATCCACAGTCAC ATCAGACCCCACGACCACCATCCACAGTCACCACATCAGACCCCACGACC GCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCA CCACATCAGACCCCACGACCGCCATCCACAGTCACCACA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	392	0.0026	538	c.228 others(557): Show c.2287-1172_2287-1171insTGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGTGGT CGTGGGGTCTGATGTGACTGTGGATGGTGGTCGTGGGGTCTGATGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGA TGGCGGTCGTAGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGG TCTGATGTGACTGTGGATGGTGGTCGTGGGGTCTGATGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGACTGTGGATGGTGGTCGTGGGGTCTGATGTGGTGACTGTG GATGGCGGTCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TK1_chr17_78169091_78192052	78175213	A A	AGGTGGGT others(531): Show AGGTGGGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTAGCACGGGTGAAAG TTTTATTTCAGACATGGAGTAAAAAAAAAAATTGATTCGATCTAAATTTC CTAAGATGAGGCTAAATAGGAAGAAAGATACTGTTAAAACTATTCAATTA CAGAACTGATTAGTTTTACGAGTCTTTAAAGCTGCAACTTTCTTACTATG TAGCTTTATCCTGGAACCAAGAGCCATCCCTACCATGTCAAGTGTAGGCC CTTAATTAGAAATGATAAGTAACATTATTTGGGGAGTTAATCAGAAAACC AAACAAAAAGCTCCGTTTTTGTTTTGTGTTTTCTTTCTTCTTTCTTTTTT TTTTTTTTTTTAATTTATTTATTTTTTTTTTATTGATCATTCTTGGGCGT TTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAG GTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGG ACCCTGCGGCCTTGGCCTTCCGCAGTGTTTGTGTCCCTG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01109.hp2 HG01884.hp1 others(13): Show HG00673.hp2 HG01109.hp2 HG01884.hp1 HG01928.hp1 HG01981.hp1 HG01993.hp1 HG02129.hp1 HG02145.hp1 HG02148.hp1 HG02165.hp2 HG02809.hp1 HG02976.hp2 HG03195.hp1 NA18945.hp1 NA18965.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0029 a0001c0001t0002g0064 others(3): Show a0001c0001t0002g0007 a0001c0001t0002g0029 a0001c0001t0002g0064 a0001c0001t0002g0071 a0001c0001t0002g0077 a0001c0001t0002g0103	16	446	0.0359	538	c.394 others(551): Show c.394-45_394-44insCAGGGACACAAACACTGCGGAAGGCCAAGGCC GCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATC TGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCT GCGAGAAACGCCCAAGAATGATCAATAAAAAAAAAATAAATAAATTAAAA AAAAAAAAAAAAAGAAAGAAGAAAGAAAACACAAAACAAAAACGGAGCTT TTTGTTTGGTTTTCTGATTAACTCCCCAAATAATGTTACTTATCATTTCT AATTAAGGGCCTACACTTGACATGGTAGGGATGGCTCTTGGTTCCAGGAT AAAGCTACATAGTAAGAAAGTTGCAGCTTTAAAGACTCGTAAAACTAATC AGTTCTGTAATTGAATAGTTTTAACAGTATCTTTCTTCCTATTTAGCCTC ATCTTAGGAAATTTAGATCGAATCAATTTTTTTTTTTACTCCATGTCTGA AATAAAACTTTCACCCGTGCTAAAAAAAAAAAAAAAAAAAAAAAGAAAAA CCCACC	TK1	ENSG00000167900.12	transcript	ENST00000301634.12	protein_coding	5/6			chr17	TogoVar
TK1_chr17_78169091_78192052	78175213	A A	AGGTGGGT others(531): Show AGGTGGGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTAGCACGGGTGAAAG TTTTATTTCAGACATGGAGTAAAAAAAAAAGTTGATTCGATCTAAATTTC CTAAGATGAGGCTAAATAGGAAGAAAGATACTGTTAAAACTATTCAATTA CAGAACTGATTAGTTTTACGAGTCTTTAAAGCTGCAACTTTCTTACTATG TAGCTTTATCCTGGAACCAAGAGCCATCCCTACCATGTCAAGTGTAGGCC CTTAATTAGAAATGATAAGTAACATTATTTGGGGAGTTAATCAGAAAACC AAACAAAAAGCTCCGTTTTTGTTTTGTGTTTTCTTTCTTCTTTCTTTTTT TTTTTTTTTTTAATTTATTTATTTTTTTTTTATTGATCATTCTTGGGCGT TTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAG GTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGG ACCCTGCGGCCTTGGCCTTCCGCAGTGTTTGTGTCCCTG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00741.hp1 HG01069.hp2 others(25): Show HG00609.hp1 HG00741.hp1 HG01069.hp2 HG01109.hp1 HG01496.hp2 HG01934.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02056.hp2 HG02148.hp2 HG02293.hp1 HG02738.hp2 HG03491.hp1 HG03710.hp1 NA18947.hp1 NA18953.hp2 NA18956.hp1 NA18960.hp1 NA18974.hp1 NA18989.hp1 NA18990.hp2 NA19009.hp2 NA19077.hp2 NA19082.hp1 NA19085.hp1 NA20300.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0003 a0001c0001t0002g0025 a0001c0001t0002g0030 others(6): Show a0001c0001t0002g0003 a0001c0001t0002g0025 a0001c0001t0002g0030 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0003t0002g0028	28	446	0.0628	538	c.394 others(551): Show c.394-45_394-44insCAGGGACACAAACACTGCGGAAGGCCAAGGCC GCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATC TGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCT GCGAGAAACGCCCAAGAATGATCAATAAAAAAAAAATAAATAAATTAAAA AAAAAAAAAAAAAGAAAGAAGAAAGAAAACACAAAACAAAAACGGAGCTT TTTGTTTGGTTTTCTGATTAACTCCCCAAATAATGTTACTTATCATTTCT AATTAAGGGCCTACACTTGACATGGTAGGGATGGCTCTTGGTTCCAGGAT AAAGCTACATAGTAAGAAAGTTGCAGCTTTAAAGACTCGTAAAACTAATC AGTTCTGTAATTGAATAGTTTTAACAGTATCTTTCTTCCTATTTAGCCTC ATCTTAGGAAATTTAGATCGAATCAACTTTTTTTTTTACTCCATGTCTGA AATAAAACTTTCACCCGTGCTAAAAAAAAAAAAAAAAAAAAAAAGAAAAA CCCACC	TK1	ENSG00000167900.12	transcript	ENST00000301634.12	protein_coding	5/6			chr17	TogoVar
TMEM120B_chr12_121707752_121787068	121747937	G G	GCACTGGG others(531): Show GCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0040 a0001c0001t0005g0040	1	314	0.0032	538	c.189 others(553): Show c.189-388_189-387insACTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCG GGAGGCAC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM185A_chrX_149591556_149636792	149605308	A A	ACTATGGC others(531): Show ACTATGGCCTCCCATGTCACTTTCTATGGCCTCCCATGTCACTTTCTATG GCCTCCCATGTCACTTTCTATAGCCTCCCATGTCACTTTCTATAGCCTCC CATGTCACTTTCTATGGCCTCCCATGTCACTATGGCCTCCCATGTCACTT TCTATGGCCTCCCATGTCACTTTCTATGGCCTCCCATGTCACTTTCTATG GCCTCCCATGTCACTATGGCCTCCCATGTCACTTTCTATGGCCTCCCATG TCACTTTCTATGGCCTCCCATGTCACTTTCTATAGCCTCCCATGTCACTT TCTATAGCCTCCCATGTCACTTTCTATGGCCTCCCATGTCACTATGGCCT CCCATGTCACTTTCTATGGCCTCCCATGTCACTTTCTATGGCCTCCCATG TCACTTTCTATGGCCTCCCTTGTCACTTTCTATGGCCTCCCATGTCACTT TCTATGGCCTCCCATGTCACTTTCTATAGCCTCCCATGTCACTTTCTATG GCCTCCCATGTCACTTTCTATGGCCTCCCATGTCACTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0032 a0001c0001t0025g0032	1	259	0.0039	538	c.424 others(555): Show c.424-1239_424-1238insAAAGTGACATGGGAGGCCATAGAAAGTG ACATGGGAGGCCATAGAAAGTGACATGGGAGGCTATAGAAAGTGACATGG GAGGCCATAGAAAGTGACATGGGAGGCCATAGAAAGTGACAAGGGAGGCC ATAGAAAGTGACATGGGAGGCCATAGAAAGTGACATGGGAGGCCATAGAA AGTGACATGGGAGGCCATAGTGACATGGGAGGCCATAGAAAGTGACATGG GAGGCTATAGAAAGTGACATGGGAGGCTATAGAAAGTGACATGGGAGGCC ATAGAAAGTGACATGGGAGGCCATAGAAAGTGACATGGGAGGCCATAGTG ACATGGGAGGCCATAGAAAGTGACATGGGAGGCCATAGAAAGTGACATGG GAGGCCATAGAAAGTGACATGGGAGGCCATAGTGACATGGGAGGCCATAG AAAGTGACATGGGAGGCTATAGAAAGTGACATGGGAGGCTATAGAAAGTG ACATGGGAGGCCATAGAAAGTGACATGGGAGGCCATAGAAAGTGACATGG GAGGCCATAG	TMEM185A	ENSG00000269556.9	transcript	ENST00000600449.8	protein_coding	3/6			chrX	TogoVar
TMPRSS2_chr21_41459305_41513158	41474464	T T	TGAGGGGG others(531): Show TGAGGGGGTGAAGGCGTGAGTGAGGGGGTAAGGGGATGAGTGAGGGGGTG AGGGGGTGAGGGGTGAGTGAGGGGGCGAGGGGGTGAGTGAGGGGGCGAGG GGGTGAGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGGTGAGTGAGGGGGC GAGGGGGTGAGTGAGGAGGTGAGCGGGTGAGTGAGGAGGTGAGGGGGTGA GTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGGTGAGTGAGGGGG TGAGGGGGTGAGGGGGTGAGTGAGGAGGTGAGGGGATGAGTGAGGAGGTG AGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGGGTGAGTGAGGAGGTGAG GGGATGAGTGAGGGGGTGAGGGGGCGAGGGGGTGAGTGAGGAGGTGAGCG GGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGGGGG TGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGGGTG AGTGAGGAGGTGAGGGGATGAGTGAGGGGGTGAGGGGGC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	382	0.0026	538	c.728 others(553): Show c.728-969_728-968insGCCCCCTCACCCCCTCACTCATCCCCTCAC CTCCTCACTCACCCCCTCACCCCCTCACCCCCTCACTCACCCCCTCACCT CCTCACTCACCCCCTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCC TCACTCACCCGCTCACCTCCTCACTCACCCCCTCGCCCCCTCACCCCCTC ACTCATCCCCTCACCTCCTCACTCACCCCCTCACCCCCTCACCCCCTCAC TCACCCCCTCACCTCCTCACTCATCCCCTCACCTCCTCACTCACCCCCTC ACCCCCTCACCCCCTCACTCACCCCCCTCACCTCCTCACTCACCCCCTCA CCTCCTCACTCACCCCCTCACCTCCTCACTCACCCGCTCACCTCCTCACT CACCCCCTCGCCCCCTCACTCACCCCTCACCCCCTCACCCCCTCACTCAC CCCTCACCCCCTCGCCCCCTCACTCACCCCCTCGCCCCCTCACTCACCCC TCACCCCCTCACCCCCTCACTCATCCCCTTACCCCCTCACTCACGCCTTC ACCCCCTC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TOX_chr8_58800412_59124147	59092264	T T	TATATATA others(531): Show TATATATATTATATATTATATATACATTATATATATTATATATTATATAT ACATTATATATATTATATATTATATATACATTATATATATTATATATTAT ATATACATTATATATATTATATATTATATATACATTATATATATTATATA TTATATATACATTATATATATTATATATTATATATACATTATATATATTA TATATTATATATACATTATATATATTATATATTATATATACATTATATAT ATTATATATTATATATACATTATATATATTATATATTATATATACATTAT ATATATTATATATTATATATACATTATATATATTATATATTATATATACA TTATATATATTATATATTATATATACATTATATATATTATATATTATATA TACATTATATATATTATATATTATATATACATTATATATATTATATATTA TATATACATTATATATATTATATATTATATATACATTATATATATTATAT ATTATATATACATTATATATATTATATATTATATATACA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0174 a0001c0004t0001g0174	1	224	0.0045	538	c.102 others(557): Show c.102+26621_102+26622insTGTATATATAATATATAATATATATA ATGTATATATAATATATAATATATATAATGTATATATAATATATAATATA TATAATGTATATATAATATATAATATATATAATGTATATATAATATATAA TATATATAATGTATATATAATATATAATATATATAATGTATATATAATAT ATAATATATATAATGTATATATAATATATAATATATATAATGTATATATA ATATATAATATATATAATGTATATATAATATATAATATATATAATGTATA TATAATATATAATATATATAATGTATATATAATATATAATATATATAATG TATATATAATATATAATATATATAATGTATATATAATATATAATATATAT AATGTATATATAATATATAATATATATAATGTATATATAATATATAATAT ATATAATGTATATATAATATATAATATATATAATGTATATATAATATATA ATATATATAATGTATATATAATATATAATATATATAATGTATATATAATA TATAATATATAT	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TP53AIP1_chr11_128930370_128947871	128930666	C C	CAGGGGTT others(531): Show CAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGG GTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGA GACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGC CGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCGGGGTTAGGGAGACCAAGG GTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTA GGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGG AGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTTAGGGAGGC CAGGGTAGGGAGGCTGGGGGTTAGGAAGGCCGGGGTTAGGGAGACCAAGG GTCAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTA GGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	466	0.0022	538	c.49 others(549): Show c.4924_*4925insTGGCCTCTCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCC CTGACCCTTGGTCTCCCTAACCCCGGCCTTCCTAACCCCCAGCCTCCCTA CCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCCCGGCCTCCCTAACCCC GGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGC CTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCC CTGACCCTTGGTCTCCCTAACCCCGGCCTCTCTAACCCCGGCCTCCCTAA CCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCT TGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCC TCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCC CTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAAC CCCT	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4703		chr11	TogoVar
TUBB2B_chr6_3219277_3232653	3222092	C C	CCATCACC others(531): Show CCATCACCACCACCACTACCACTACCACCAACACAATCACCACCACGATC ACCATCATCACCACCACCACCACTACCACTACCACCATCATAATTACCAC CACCATCACCACCACCACCACCACTATCACCATCATCACCACCACCACCA CCACCACTAGCACAACCACAACACTACCACATCACCACCACCACTACCAC TACTACCATCACCATCACCACCACCATCACCACCACCACCACAATACTAC CACATCACCACCACGATCACCATCATCACCACCACCACCACCACTAGCAC AACCACAACACTACCACATCACCACCACCACTACCACCACCACCACCATC ACTACTACCATCACCACCACCACCACCATCACCACCACCACGACCACCAC AACACTACCACATCACCACCACCACCATCACCATCGCCACCATCACCACC ACCATCACCACCACCACCACCACCACACTACCACCACCACCATCACCATC ATCATCACCACCACCACGACCACCACAACACTACCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	360	0.0028	538	c.26 others(549): Show c.2658_*2659insATGTGGTAGTGTTGTGGTGGTCGTGGTGGTGGTG ATGATGATGGTGATGGTGGTGGTGGTAGTGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGATGGTGGCGATGGTGATGGTGGTGGTGGTGATGTGGTA GTGTTGTGGTGGTCGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTA GTAGTGATGGTGGTGGTGGTGGTAGTGGTGGTGGTGATGTGGTAGTGTTG TGGTTGTGCTAGTGGTGGTGGTGGTGGTGATGATGGTGATCGTGGTGGTG ATGTGGTAGTATTGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGATGG TAGTAGTGGTAGTGGTGGTGGTGATGTGGTAGTGTTGTGGTTGTGCTAGT GGTGGTGGTGGTGGTGGTGATGATGGTGATAGTGGTGGTGGTGGTGGTGA TGGTGGTGGTAATTATGATGGTGGTAGTGGTAGTGGTGGTGGTGGTGATG ATGGTGATCGTGGTGGTGATTGTGTTGGTGGTAGTGGTAGTGGTGGTGGT GATG	TUBB2B	ENSG00000137285.11	transcript	ENST00000259818.8	protein_coding		2184		chr6	TogoVar
UNC5D_chr8_35230475_35801540	35509498	T T	TCTCCTCT others(531): Show TCTCCTCTCCTCTCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCTTCCCCT CTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTCTCTCCTCCCCTCCCC TCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCTCCT CCCCCCTTCCCTCCCCTTGCCTCTCCCCTCCCTTCCCCTCTCCCCTCCCC TCCCTTCCCCTCTCCCCTCCCCCCTCCCCTCCCTTCCCCTCTCCCCTCCC CTCCCCTCCATTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCC CCTCTCCCCTCCCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTC TCCTCTCCTTCCCTCCCCTCCCCTCCCATTCCTTCCCCTCCTATTCCTTC CCCTCCCTTTCCCTCCCATTCCTTCCCCTCCCTTTCTCTCCCATTCCTTC CCCTCCCTTTCCCCTACCCCTCCCCTGTCTTCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	64	0.0156	538	c.104 others(557): Show c.104-39786_104-39785insCTCTCCCCTCCCTTCCCCTCTCCCCT CCCCTCCCTTCCCCTCTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTC TCTCCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCT CCCCTCCCCTCTCCTCCCCCCTTCCCTCCCCTTGCCTCTCCCCTCCCTTC CCCTCTCCCCTCCCCTCCCTTCCCCTCTCCCCTCCCCCCTCCCCTCCCTT CCCCTCTCCCCTCCCCTCCCCTCCATTCCCCTCTCCCCTCCCCCCTCCCC TCCCCTCCCCTCTCCCCTCTCCCCTCCCCCCTCTCCCCTCCCCCCTCCCC TCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCTCCCCTCCCCTCTCCTCTCCTTCCCTCCCCTCCCCTCCCATTCCTTC CCCTCCTATTCCTTCCCCTCCCTTTCCCTCCCATTCCTTCCCCTCCCTTT CTCTCCCATTCCTTCCCCTCCCTTTCCCCTACCCCTCCCCTGTCTTCTCC TCCCCTCCTCTC	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35509498	T T	TCTCCTCT others(531): Show TCTCCTCTCCTCTCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCTTCCCCT CTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTCTCTCCTCCCCTCCCC TCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCTCCT CCCCCCTTCCCTCCCCTTGCCTCTCCCCTCCCTTCCCCTCTCCCCTCCCC TCCCTTCCCCTCTCCCCTCCCCCCTCCCCTCCCTTCCCCTCTCCCCTCCC CTCCCCTCCCTTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCC CCTCTCCCCTCCCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTC TCCTCTCCTTCCCTCCCCTCCCCTCCCATTCCTTCCCCTCCTATTCCTTC CCCTCCCTTTCCCTCCCATTCCTTCCCCTCCCTTTCTCTCCCATTCCTTC CCCTCCCTTTCCCCTACCCCTCCCCTGTCTTCTCCTCCC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02615.hp2 HG02886.hp1 others(8): Show HG01123.hp1 HG02615.hp2 HG02886.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03209.hp2 HG03486.hp1 HG03516.hp2 HG03927.hp1 HG03927.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0002t0007 a0001c0003t0005 a0001c0003t0023 a0003c0007t0002	a0001c0001t0001g0001 a0001c0001t0001g0042 a0001c0001t0001g0061 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0042 a0001c0001t0001g0061 a0001c0001t0002g0029 a0001c0001t0002g0049 a0001c0001t0016g0019 a0001c0002t0007g0003 a0001c0003t0005g0041 a0001c0003t0005g0048 a0001c0003t0023g0005 a0003c0007t0002g0007	11	64	0.1719	538	c.104 others(557): Show c.104-39786_104-39785insCTCTCCCCTCCCTTCCCCTCTCCCCT CCCCTCCCTTCCCCTCTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTC TCTCCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCTCT CCCCTCCCCTCTCCTCCCCCCTTCCCTCCCCTTGCCTCTCCCCTCCCTTC CCCTCTCCCCTCCCCTCCCTTCCCCTCTCCCCTCCCCCCTCCCCTCCCTT CCCCTCTCCCCTCCCCTCCCCTCCCTTCCCCTCTCCCCTCCCCCCTCCCC TCCCCTCCCCTCTCCCCTCTCCCCTCCCCCCTCTCCCCTCCCCCCTCCCC TCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCTCCCCTCCCCTCTCCTCTCCTTCCCTCCCCTCCCCTCCCATTCCTTC CCCTCCTATTCCTTCCCCTCCCTTTCCCTCCCATTCCTTCCCCTCCCTTT CTCTCCCATTCCTTCCCCTCCCTTTCCCCTACCCCTCCCCTGTCTTCTCC TCCCCTCCTCTC	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
WDR81_chr17_1719704_1743585	1739135	A A	AGCCTGAT others(531): Show AGCCTGATGCAGGGAGTGAGGAACAGGACAGTGAGGCTGGGAAGGAGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAG GAACAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCA GGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGAGCAGGTGT GAGGGCGGGAAGCGGCCTGATTCAGGGAGTGAGGCGCAGGACAGTGAGGG TGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGA AGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGG CCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGA TGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 NA19002.hp2 HG00639.hp2 NA19002.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0002 a0003c0004t0003g0002	2	431	0.0046	538	c.14 others(549): Show c.1450_*1451insGCCTGATGCAGGGAGTGAGGAACAGGACAGTGAG GCTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGG GAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGAACAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGA GTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGATTCAGGGAGTGAGGC GCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGG ACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGT GAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGG TGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGA GGCG	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		551		chr17	TogoVar
WDR81_chr17_1719704_1743585	1739135	A A	AGCCTGAT others(531): Show AGCCTGATGCAGGGAGTGAGGAACAGGACAGTGAGGCTGGGAAGGAGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAG GAACAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCA GGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGGAGCAGGTGT GAGGGCGGGAAGCGGCCTGATTCAGGGAGTGAGGCGCAGGACAGTGAGGG TGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGA AGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCGG CCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGA TGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0010 a0003c0021t0010	a0003c0021t0010g0077 a0003c0021t0010g0077	1	431	0.0023	538	c.14 others(549): Show c.1450_*1451insGCCTGATGCAGGGAGTGAGGAACAGGACAGTGAG GCTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGG GAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGAACAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGA GTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGATTCAGGGAGTGAGGC GCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGG ACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGT GAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGG TGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGA GGCG	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		551		chr17	TogoVar
ZNF787_chr19_56082366_56126295	56105981	T T	TTCCCCCC others(531): Show TTCCCCCCTCCGCGCCCACGGCAGTCACCGCGCATTCCGCATTCCCCCCT CCGCGCCCACGGCAGTCACCGCGCATTCCGCCCTCCGCGCCCACGGCAGT CACCGCGCATTCCCCCCTCCGCGCCCACGGCAGTCACCGCGCATTCCCCC CTCCGCGCCCACGGCAGTCACCGCGCAATCCCCCCTCCGCGCCCACGGCA GTCACCGCGCATTCCGCATTCCCCCCTCCGCGCCCACGGCAGTCACCGCG CATTCCGCCCTCCGCGCCCACGGCAGTCACCGCGCATTCCCCCCTCCGCG CCCACGGCAGTCACCGCGCATTCCCCCCTGCGCGCCCACGGCAGTCACCG CGCATTCCGCATTCCCCCCTCCGCGCCCACGGCAGTCACCGCGCATTCCG CCCTCCGCGCCCACGGCAGTCACCGCGCATTCCCCCCTCCGCGCCCACGG CAGTCACCGCGCATTCCGCATTCCCCCCTCCGCGCCCACGACAGTCACCG CGCATTCCGCCCTCCGCGCCCACGGCAGTCACCGCGCAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18522.hp2 HG03139.hp2 NA18522.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0030 a0002c0007t0030	a0002c0007t0030g0062 a0002c0007t0030g0066 a0002c0007t0030g0062 a0002c0007t0030g0066	2	410	0.0049	538	c.-10 others(555): Show c.-10-2755_-10-2754insTTGCGCGGTGACTGCCGTGGGCGCGGAG GGCGGAATGCGCGGTGACTGTCGTGGGCGCGGAGGGGGGAATGCGGAATG CGCGGTGACTGCCGTGGGCGCGGAGGGGGGAATGCGCGGTGACTGCCGTG GGCGCGGAGGGCGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGGGGAA TGCGGAATGCGCGGTGACTGCCGTGGGCGCGCAGGGGGGAATGCGCGGTG ACTGCCGTGGGCGCGGAGGGGGGAATGCGCGGTGACTGCCGTGGGCGCGG AGGGCGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGGGGAATGCGGAA TGCGCGGTGACTGCCGTGGGCGCGGAGGGGGGATTGCGCGGTGACTGCCG TGGGCGCGGAGGGGGGAATGCGCGGTGACTGCCGTGGGCGCGGAGGGGGG AATGCGCGGTGACTGCCGTGGGCGCGGAGGGCGGAATGCGCGGTGACTGC CGTGGGCGCGGAGGGGGGAATGCGGAATGCGCGGTGACTGCCGTGGGCGC GGAGGGGGGA	ZNF787	ENSG00000142409.6	transcript	ENST00000610935.2	protein_coding	1/2			chr19	TogoVar
ZNF888_chr19_52899415_52928428	52919934	T T	TCCGGGAG others(531): Show TCCGGGAGGGAGGTGGGGGTGGTCAGCCCCCCGCCCGGCCAGCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGTCCGGCCGCCCCTACTGGGAAGTGAGG ACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGGT CAGCCCCCTGCCCGGCCAGCCGCCCAGTCTGGGAGGGAGGTGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCCGGCCGCCCCTA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0251 a0002c0003t0011g0251	1	426	0.0024	538	c.-17 others(555): Show c.-177-998_-177-997insTAGGGGCGGCCGGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCACCTCCCTCCCAGACTGGGCGGCTGGCCGG GCAGGGGGCTGACCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCCGGACAGAGGCGCCCC TCACCTCCCGGACGGGGCGCTGGCCGGGCGGGGGGCTGACCACCCCCACC TCCCTCCCGG	ZNF888	ENSG00000213793.6	transcript	ENST00000638862.2	protein_coding	1/4			chr19	TogoVar
ZSCAN32_chr16_3377085_3406004	3393210	A A	ATATAAAT others(531): Show ATATAAATATATATATATTTATATATATATAAATATATATATATTTATAT ATATATAAATATATATATATTTATATATATATAAATATATATATATTTAT ATATATAAATATATATATATAAATATATATATATTTATATATATATATTT ATATATATAAATATATATATTTATATATATATTTATATATATATAAATAT ATATATATAAATATATATATATAAATATAAATAAATATATATTTATATAT ATAAATAAATATATATTTATATATATATTTATATATATATAAATATATAT ATATATTTATATATATAAATATATATATATTTATATATATATAAATATAT ATATATTTTATATATATATATAAATATATATATATATTTTATATATATAT ATAAATATATATATATTTTATATATATATATAAATATATATATATATTTT ATATATATATATAAATATATATATATATTTTATATATATATAAATATATA TATATATTTTATATATATATATAAATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18951.hp2 NA19074.hp1 HG02027.hp1 NA18951.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0009g0057 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0009g0057	3	400	0.0075	538	c.532 others(553): Show c.532+438_532+439insAATATATATATATATTTATATATATATATA AAATATATATATATATTTATATATATATAAAATATATATATATATTTATA TATATATATAAAATATATATATATATTTATATATATATATAAAATATATA TATATTTATATATATATATAAAATATATATATATATTTATATATATATAT AAAATATATATATATTTATATATATATAAATATATATATATTTATATATA TAAATATATATATATATTTATATATATATAAATATATATATAAATATATA TTTATTTATATATATAAATATATATTTATTTATATTTATATATATATATT TATATATATATATTTATATATATATAAATATATATATAAATATATATATT TATATATATAAATATATATATATAAATATATATATATTTATATATATATA TTTATATATATAAATATATATATATTTATATATATATAAATATATATATA TTTATATATATATAAATATATATATATTTATATATATATAAATATATATA TATTTATA	ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6			chr16	TogoVar

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Search Results (Total: 10000 hits)