JoGo: Joint Open Genome and Omics Platform

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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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
B3GNTL1_chr17_82937149_83056770	82971701	G G	GGGGCCAG others(841): Show GGGGCCAGAAGGACCCGGTGCCGACCACACCACACCACAGGGGCCAGAAG GACCTGGTACTGACCACACCACACCACAGGGGCCAGAAGGACCTGGTACT GACCACACCACACCACAGGGGCCAGAAGGACCTGGTACTGACCACACCAC ACCACAGGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGGGGC CACAAGGACCTGGTGCCGACCACACCACACCACAGGGGCCAGAAGGACCT GGTGCCGACCACACCACACCACAGGGGCCAGAAGGACCTGGTGCCGACCA CACCACACCACAGGGGCCAGAAGGACCTGGTGCCGACCACACCACACCAC AGGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGGGGCCAGAA GGACCTGGTGCCGACCACACCACACCACAGGGGCTAGAAGGACCTGGTGC CGACACACCACACCACAGGGGCCAGAAGGACCTGGTGCCGACCACACCAC ACCATGGGCCAGAAGGACCTGGAGCCGACACACCACACCAGGGGCCAGAA GGACCTGGTGCCCACCACACCACACCACAGGGGCCAGAAGGACCTGGTAC TGACCACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACCACACCA CACCATGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGGGGCC AGAAGGACCTGGTGCCGACCACACCACACCACAGGGGCCAGAAGGACCTG GTACTGACCACACCACACCACAGGGGCCAGAAGGACCTGGTGCCGGCCAC ACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACCACACCACACCAC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0008 a0001c0016t0001g0008	1	266	0.0038	848	c.460 others(865): Show c.460-5956_460-5955insGTGGTGTGGTGTGGTCGGCACCAGGTCC TTCTAGCCCCTGTGGTGTGGTGTGGCCGGCACCAGGTCCTTCTGGCCCCT GTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTG TGGTCGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCGGCACC AGGTCCTTCTGGCCCATGGTGTGGTGTGGTCGGCACCAGGTCCTTCTAGC CCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGT GGTGTGGTGGGCACCAGGTCCTTCTGGCCCCTGGTGTGGTGTGTCGGCTC CAGGTCCTTCTGGCCCATGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGG CCCCTGTGGTGTGGTGTGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGT GGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCGG CACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCT TCTGGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTG TGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGT GGTCGGCACCAGGTCCTTGTGGCCCCTGTGGTGTGGTGTGGTCGGCACCA GGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGG CCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTG TGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCG GCACCGGGTCCTTCTGGCCC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BOK_chr2_241553745_241579131	241570689	G G	GTGGGGGT others(841): Show GTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAAT GGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTG CGAGGGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGC GCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGG GAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGG GGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGCCTCT GAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTATGG GAGGGAGTGGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAG CTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGC CTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGT ACGGGAGGGAATGGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGG AGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGCGGATGGGT GAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAG AGGTACGGGAGGGAGTGGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGG TGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGAT GGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGT GCAGACGTACGGGAGGGAATGGCGGATGGGTGAGCGTCTGAGCGCCTGT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	434	0.0023	848	c.513 others(863): Show c.513+401_513+402insTGGGGGTGGGAGAGCTGGGGTGCGAGGGTG CAGAGGTACGGGAGGGAATGGCGGATGGGTGAGCCTCTGAGCGCCTGTGG GGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGCG GATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAG GGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCT GTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGT GGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTG CGAGGGTGCAGAGGTATGGGAGGGAGTGGCGGATGGGTGAGCCTCTGAGC GCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGG GAGTGGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGG GGTGCGAGGGTGCAGAGGTACGGGAGGGAATGGCGGATGGGTGAGCCTCT GAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGG GAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAG CTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGC CTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGT ACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGG AGAGCTGGGGTGCGAGGGTGCAGACGTACGGGAGGGAATGGCGGATGGGT GAGCGTCTGAGCGCCTGT	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4			chr2	TogoVar
BOK_chr2_241553745_241579131	241570689	G G	GTGGGGGT others(841): Show GTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGT GGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTG CGAGGGTGCAGAGGTACGGGAGGGAATGGCGGATGGGTGAGCCTCTGAGC GCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGG GAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGG GGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCT GAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGG GAGGGAGTGGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAG CTGGGGTGCGAGGGTGCAGAGGTATGGGAGGGAGTGGCGGATGGGTGAGC CTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGT ACGGGAGGGAATGGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGG AGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGCGGATGGGT GAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAG AGGTACGGGAGGGAGTGGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGG TGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGAT GGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGT GCAGACGTACGGGAGGGAATGGCGGATGGGTGAGCGTCTGAGCGCCTGT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	434	0.0023	848	c.513 others(863): Show c.513+401_513+402insTGGGGGTGGGAGAGCTGGGGTGCGAGGGTG CAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGCCTCTGAGCGCCTGTGG GGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAATGGCG GATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAG GGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCT GTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGT GGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTG CGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGCCTCTGAGC GCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTATGGGAGG GAGTGGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGG GGTGCGAGGGTGCAGAGGTACGGGAGGGAATGGCGGATGGGTGAGCCTCT GAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGG GAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAG CTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGC CTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGT ACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGG AGAGCTGGGGTGCGAGGGTGCAGACGTACGGGAGGGAATGGCGGATGGGT GAGCGTCTGAGCGCCTGT	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4			chr2	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(841): Show TGGCGGGTGAATAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTGTGT ACGGGGCGGGTGAATAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTA CGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTG TGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGG GGTGTGTACGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAG GCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGG GCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGTCGGCGT GCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCG GCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG GTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAG ACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAG ACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGA GTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGG GTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0043 a0002c0043	a0002c0043t0001 a0002c0043t0001	a0002c0043t0001g0204 a0002c0043t0001g0204	1	338	0.0030	848	c.300 others(865): Show c.300-9386_300-9385insATAGACGGTCGGCATGCATAGGGCCGGG GGCGGGGTGTGTACGGGGCGGGTGAATAGACGGTCGGCATGCATAGGGCC GGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGG GGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGTCGGCGTGCG TAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCG TGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTC GGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACG GCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG GTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTA GACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTG AGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCG GGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTA CGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGG GGTGTGTACGGGGCGGGTGA	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN11_chr6_44153820_44189401	44181863	A A	ACACACAC others(841): Show ACACACACACACTCACATACAGACACAACCACACCACACTCACACATACA CACTCACATACAGACACAACCACACCACACTCACACACACACATACACAC TCACATACAGACACAACCACACCACACTCACACACACACACATACACACT CACATACAGACACAACCACACCACACACACACATACACACTCACATACAG ACAACCACACCACACTCACACACACATACACACTCACATACAGACACAAC CACACCACACACACACATACACACTCACATACAGACACAACCACACCACA CTCACACACACACATACACACTCACATACAGACACAACCACACCACACTC ACACACACACACACTCACATACAGACACAACCACACCACACACACACACT CACATACAGACACAACCACACCACACTCACACACACACACATACACACTC ACATACAGACACAACCACACCACACTCACACACACATACACACTCACATA CAGACACAACCACACCACACTCACACACACACACACTCACATACAGACAC AACCACACCACACACACACACTCACAGACACAACCACACCACACACACAT ACACACTCACATACAGACACAACCACACCACTCACACATACACACTCACA TACAGACACAACCACACCACACTCACACACACATACACACTCACATACAG ACACAACCACACCACACTCACACACACACATACACACTCACATACAGACA CAACCACACCACACACACACATACACACTCACATACAGACACAACCACAC CACACACACACACATACACACTCACATACAGACACAACCACACCACACT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0091 a0003c0003t0001g0091	1	460	0.0022	848	c.193 others(865): Show c.1938+553_1938+554insCTCACATACAGACACAACCACACCACAC TCACACATACACACTCACATACAGACACAACCACACCACACTCACACACA CACATACACACTCACATACAGACACAACCACACCACACTCACACACACAC ACATACACACTCACATACAGACACAACCACACCACACACACACATACACA CTCACATACAGACAACCACACCACACTCACACACACATACACACTCACAT ACAGACACAACCACACCACACACACACATACACACTCACATACAGACACA ACCACACCACACTCACACACACACATACACACTCACATACAGACACAACC ACACCACACTCACACACACACACACTCACATACAGACACAACCACACCAC ACACACACACTCACATACAGACACAACCACACCACACTCACACACACACA CATACACACTCACATACAGACACAACCACACCACACTCACACACACATAC ACACTCACATACAGACACAACCACACCACACTCACACACACACACACTCA CATACAGACACAACCACACCACACACACACACTCACAGACACAACCACAC CACACACACATACACACTCACATACAGACACAACCACACCACTCACACAT ACACACTCACATACAGACACAACCACACCACACTCACACACACATACACA CTCACATACAGACACAACCACACCACACTCACACACACACATACACACTC ACATACAGACACAACCACACCACACACACACATACACACTCACATACAGA CACAACCACACCACACACACACACATACACACTCACATACAGACACAACC ACACCACACTCACACACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC57_chr17_82096470_82217842	82215658	G G	GCCCCCAC others(841): Show GCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGC AGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCC CTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCC CCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGC ACCCCTCCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCC CCCCCACACTGCAGCACCTCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTC CTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCC ACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCAC CCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTT CCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACAC TGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCACCCCT CCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCC TGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGC AGCACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCC CTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0087 a0003c0004t0003g0087	1	252	0.0040	848	c.-28 others(859): Show c.-2883_-2882insGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGG GGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGC AGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGG GAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGA GGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGT GTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAA GGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGAGGT GCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGG GGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAA GGAGGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGG TGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTG CTGCAGTGTGGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2817		chr17	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(841): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG02129.hp1 HG00140.hp2 HG02129.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0063 a0001c0001 a0004c0063	a0001c0001t0001 a0004c0063t0002 a0001c0001t0001 a0004c0063t0002	a0001c0001t0001g0191 a0004c0063t0002g0194 a0001c0001t0001g0191 a0004c0063t0002g0194	2	334	0.0060	848	c.-25 others(859): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(841): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGT ATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTAT TAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAG GTGGTAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGGTAGTATTA AGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAG AGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAG GTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGTGGTAGTATTAAGAGGT GGTAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	334	0.0030	848	c.-25 others(859): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACC TCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTC TTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTT AATACTACCACCTCTTAATACTACCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTC TTAATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTT AATACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAA TACTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATA CTACCACCTCTTAATACTACCACCTCTTAATACTACCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(841): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCC CTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCT TCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCC TTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTCC CTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCCTCC TCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTT CTCTTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0238 a0001c0002t0009g0238	1	270	0.0037	848	c.162 others(869): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCT CCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTC CCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCT CTTCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCTCCCTCTTCCTCC CCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTC CCCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCC CTTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCCCTTCCTCTTCC TCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL5A1_chr9_134636803_134849843	134685430	C C	CCATCCAT others(841): Show CCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCATCCATCCA TCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCAT TCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCCA TCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATCC ATCCATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATCCATCC ATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCACCATCCATT CACCCATCCATCCATTCATCCATCCATCCACCATCCATCCATTAATTCAT CCATCCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCAT TCATCCATCCATCTGTCCATCCATCCATCCATCCGTCCATCCACCATCCA TTCACCCATCCATCCATTCCTCCATCCATCCACCATCCATCCATTAATTC ATCCATCCATCCATCCATCCATTCATCCATCCACCATCCATCCATCCATC CACCATCCATCCATCCACCATCCATCCATTCATACATCCATCATCCTCCC ATTCATCCATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATC CATCCATCCATCCATCCACCATCCATCCACCCATCCATCCACCATCCATC CATCCAGCATCCATCCATCCATCTATTCATCCATCCATCCATCCATCCGT CCATCCATCCATCCATCCTCCATCCATCCATCCATCCATCAACCATCCAT CCATGCATCCATTCATCCATCCACCATCCATCCACCATCCATCCACCAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0259 a0001c0003t0010g0259	1	272	0.0037	848	c.110 others(865): Show c.110-5470_110-5469insCATCCATCCACCATCCATCCATCCATCC ATCCATCCATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCA TCCATCCATTCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTC ATCCATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTC CATCCATCCATCCATGCATCTGTCATCCATCCACCATCCATCCATTCATT CATCCATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCA CCATCCATTCACCCATCCATCCATTCATCCATCCATCCACCATCCATCCA TTAATTCATCCATCCATCCATCCATCCATCCACCATCCATCCATCCACCA TCCATCCATTCATCCATCCATCTGTCCATCCATCCATCCATCCGTCCATC CACCATCCATTCACCCATCCATCCATTCCTCCATCCATCCACCATCCATC CATTAATTCATCCATCCATCCATCCATCCATTCATCCATCCACCATCCAT CCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATACATCCAT CATCCTCCCATTCATCCATCCATCCACCATCCATCCATTCATTCATCCAT CCATCCATCCATCCATCCATCCATCCACCATCCATCCACCCATCCATCCA CCATCCATCCATCCAGCATCCATCCATCCATCTATTCATCCATCCATCCA TCCATCCGTCCATCCATCCATCCATCCTCCATCCATCCATCCATCCATCA ACCATCCATCCATGCATCCATTCATCCATCCACCATCCATCCACCATCCA TCCACCATCATCCATCCATT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CSMD1_chr8_2930361_4999914	4258514	G G	GGAGGGAG others(841): Show GGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGAGGGAGGG GAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGA GGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGAGG ATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGAGGAT GGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGAGGACGG AAGGAGGGAAGGAGGGAGGCGAGGCTAGAAGGAGGGAGGGATGGAGGGAG GGATGGAAGGATGGAGGGAGGAAAGAATGGAGGGAGGGAGGGAAGAATGG AGGGAGGGAGGGAGGGAAGAATGGAGGAAGGGAGGGAGGGAGGGAAGAAT GGAGGAAGGGAGGGAGGGAGGGAAGAATGGAGGGAAGAATGGAGGGAGGG AGGGAGGGAGGGAAGAATGGAGGGAGGGAGGGAAGGAAGAATGGAGGGAG GTAAGAATGGAGGGAGGGAGGGAAGAATGCAGGGAGGGAGGGAGGGAAGA ATGCAGAGAGGGAGGGAAGAATGGAAGAATGGAGGGAGGGAAGAATGGAG GGAGGGAAGAGTGGAAGAATGGAGAGAGGGAAGAGTGGAAGAATGGAGGG AGGGAAGAGTGGAAAAATGGAGGGAGCGAGTGAGGGAGGGAAGAATGGAA GAATGGAAGAATGGAGGGAGGGAAGAATGCAAGACTGGAGGGAGGGAAGA ATGCAAGACTGGAGGGAGGGAAGAATGGAAGAATGGACGGAAGGAAGAGT GGAAGAATGGAGGGAGGGAGGGAGGGAGGGAGGCAGGGAAGAGTGGAAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0005 a0005	a0005c0064 a0005c0064	a0005c0064t0051 a0005c0064t0051	a0005c0064t0051g0078 a0005c0064t0051g0078	1	126	0.0079	848	c.415 others(869): Show c.415+161438_415+161439insGTTCCACTCTTCCCTGCCTCCCTC CCTCCCTCCCTCCCTCCATTCTTCCACTCTTCCTTCCGTCCATTCTTCCA TTCTTCCCTCCCTCCAGTCTTGCATTCTTCCCTCCCTCCAGTCTTGCATT CTTCCCTCCCTCCATTCTTCCATTCTTCCATTCTTCCCTCCCTCACTCGC TCCCTCCATTTTTCCACTCTTCCCTCCCTCCATTCTTCCACTCTTCCCTC TCTCCATTCTTCCACTCTTCCCTCCCTCCATTCTTCCCTCCCTCCATTCT TCCATTCTTCCCTCCCTCTCTGCATTCTTCCCTCCCTCCCTCCCTGCATT CTTCCCTCCCTCCCTCCATTCTTACCTCCCTCCATTCTTCCTTCCCTCCC TCCCTCCATTCTTCCCTCCCTCCCTCCCTCCCTCCATTCTTCCCTCCATT CTTCCCTCCCTCCCTCCCTTCCTCCATTCTTCCCTCCCTCCCTCCCTTCC TCCATTCTTCCCTCCCTCCCTCCCTCCATTCTTCCCTCCCTCCCTCCATT CTTTCCTCCCTCCATCCTTCCATCCCTCCCTCCATCCCTCCCTCCTTCTA GCCTCGCCTCCCTCCTTCCCTCCTTCCGTCCTCCCCTCCCTCCCTCCCTC TGTCCTCCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCTG TCCTCCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCTGTC CTCCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCTGTCCT CCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCCCTCCTTC CATCCTCCCCTCCCTCCCTCCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(841): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGGAG GAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGTGGGAGGGGGAG GGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGGAGGGGGGGGAGGGGGAGGGGAGGGAGGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGA GGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGG GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGGGGGGGGGAGGGGGGGGAGGGGGAGGGGGGAGGG GAGGGGGGGAGGGGAGGGGGGGGAGGGGGAGGGGGGAGGGGAGGGGAAGG GGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAA GGGGAGGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGG AAGGGGAGGGGGAGGGGAAGGGGGAGACAGAGGGGAGGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0006 a0008c0010t0006	a0008c0010t0006g0002 a0008c0010t0006g0002	1	216	0.0046	848	c.923 others(867): Show c.923-33074_923-33073insCCTCCCCTCCCCCTCCCCTCTGTCTC CCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCCC TTCCCCTCCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCC CCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCTCCCCCCTCCCCCT CCCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCTCCCCCCCCTC CCCCCCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCCCCCCTCCCCTCCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCC CTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCCCTCCCCCTCCCCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCACTCCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCATCCCTCCATTCCTCCATTCCTCCCTCCCTCCCTCCCTTCATTCCTC CCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(841): Show CGAGACCAGCCTGGCTAACAAGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCGGCGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAAA CAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAAC AGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTAA TTTTAACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAATA TTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTTGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCGGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATAGATGTTT TACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0156 a0001c0001t0003g0156	1	419	0.0024	848	c.-51 others(859): Show c.-5108_-5107insGAGACCAGCCTGGCTAACAAGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CGGCGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAAGAAAATAATAATAATAATA ATATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAAA CTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCAC TACTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAATC TCACGCAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTG GCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGC CCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTA GCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCGGCCTCGGCCTC CCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCT TTTCTATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCACCGTG GCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCAT GAGGGCAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(841): Show CGAGACCAGCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCGGCGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAAA CAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAAC AGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTAA TTTTAACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAATA TTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTTGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATAGATGTTT TACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG02615.hp2 HG02965.hp2 HG00323.hp1 HG02615.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0035 a0001c0001t0002 a0001c0001t0006 a0001c0001t0035	a0001c0001t0002g0005 a0001c0001t0006g0163 a0001c0001t0035g0031 a0001c0001t0002g0005 a0001c0001t0006g0163 a0001c0001t0035g0031	3	419	0.0072	848	c.-51 others(859): Show c.-5108_-5107insGAGACCAGCCTGGCTAACACGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CGGCGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAAGAAAATAATAATAATAATA ATATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAAA CTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCAC TACTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAATC TCACGCAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTG GCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGC CCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTA GCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTC CCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCT TTTCTATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCACCGTG GCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCAT GAGGGCAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(841): Show CGAGACCAGCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCGGCGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAAA CAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAAC AGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTAA TTTTAACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAATA TTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTTGGCTC ACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTTTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATAGATGTTT TACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAGATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	419	0.0024	848	c.-51 others(859): Show c.-5108_-5107insGAGACCAGCCTGGCTAACACGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CGGCGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAAGAAAATAATAATAATAATA ATATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAAA CTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCAC TACTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAATC TCACGCAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTG GCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGC CCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTA GCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTC CCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCT TTTCTATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCACCGTG GCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCAT GAGGGCAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
FAM53A_chr4_1634887_1689313	1671447	C C	CCACAGCC others(841): Show CCACAGCCACGGCCCGGACTCACCTCTGTCCCAGCGTCAGAGCCACCAGC TCACAGCCACAGCCACGGCCCAGACTCACCTCTGTCCCAGCGTCAGAGCC ACCAGCTCACAGCCACGGCCCGGACTCACCTCTGTCCCAGCGTCAGAGCC ACCAGCTCACAGCCACAGCCACGGCCCGGACTCACCTCTGTCCCAGCGTC AGAGCCACCAGCTCACAGCCACGGCCCGGACTCACCTCTGTCCCACCGTC AGAGCCCCCAGCTCACAGCCACAGCCACGGCCCGGACTCACCTCTGTCCC AGCATCAGAGCCACCAGCTCACAGCCACAGCCACGGCCCGGACTCACCTC TGTCCCAGCGTCAGAGCCACCAGCTCACAGCCACGGCCCGGACTCACCTC TGTCCCAGCGTCAGAGCCCCCAGCTCACAGCCACGGCCCGGACTCACCTC TGTCCCAGCGTCAGAGCCACCAGCTCACAGCCACAGCCACGGCCCGGACT CACCTCTGTCCCAGCGTCAGAGCCACCAGCTCACAGCCACGGCCCGGACT CACCTCTGTCCCAGCGTCAGAGCCCCCAGCTCACAGCCACGGCCCGGACT CACCTCTGTCCCAGCGTCAGAGCCACCAGCTCACAGCCACAGCCACGGCC CGGACTCACCTCTGTCCCAGCGTCAGAGCCACCAGCTCACAGCCACAGCC ACAGCCCGGACTCACCTCTGTCCCAGCGTCAGAGCCACCAGCTCACAGCC ACAGCCCGGACTCACCTCTGTCCCACCGTCAGAGCCCCCAGCTCACAGCC ACAGCCACAGCCCGGACTCACCTCTGTCCCAGCGTCAGAGCCACCAGCT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0072 a0001c0001t0007g0072	1	350	0.0029	848	c.-16 others(867): Show c.-164-2543_-164-2542insAGCTGGTGGCTCTGACGCTGGGACAG AGGTGAGTCCGGGCTGTGGCTGTGGCTGTGAGCTGGGGGCTCTGACGGTG GGACAGAGGTGAGTCCGGGCTGTGGCTGTGAGCTGGTGGCTCTGACGCTG GGACAGAGGTGAGTCCGGGCTGTGGCTGTGGCTGTGAGCTGGTGGCTCTG ACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGGCTGTGAGCTGGTG GCTCTGACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGAGCTGGGG GCTCTGACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGAGCTGGTG GCTCTGACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGGCTGTGAG CTGGTGGCTCTGACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGAG CTGGGGGCTCTGACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGAG CTGGTGGCTCTGACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGGC TGTGAGCTGGTGGCTCTGATGCTGGGACAGAGGTGAGTCCGGGCCGTGGC TGTGGCTGTGAGCTGGGGGCTCTGACGGTGGGACAGAGGTGAGTCCGGGC CGTGGCTGTGAGCTGGTGGCTCTGACGCTGGGACAGAGGTGAGTCCGGGC CGTGGCTGTGGCTGTGAGCTGGTGGCTCTGACGCTGGGACAGAGGTGAGT CCGGGCCGTGGCTGTGAGCTGGTGGCTCTGACGCTGGGACAGAGGTGAGT CTGGGCCGTGGCTGTGGCTGTGAGCTGGTGGCTCTGACGCTGGGACAGAG GTGAGTCCGGGCCGTGGCTGTG	FAM53A	ENSG00000174137.14	transcript	ENST00000308132.11	protein_coding	1/4			chr4	TogoVar
FMN2_chr1_240086883_240480187	240185033	C C	CCCCTTCT others(841): Show CCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTA TACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCT CCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCT CTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTC CCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTAT ACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCC CTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCT TTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCC CTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATA CCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCT CCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTT CTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCT TCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACC TTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCC TATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCT CCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTC TCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	174	0.0058	848	c.193 others(867): Show c.1931-3171_1931-3170insTTCTCTTTCTCCCTCCTATACCTTCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTAT ACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCC CTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTC TTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCC CTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATAC CTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCT CCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTT TCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCC TTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACC TTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCC TATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTC TCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTT CTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTT CCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTA TACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTC CCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTC TTTCTCCCTCCTATACCTTCCC	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
GNAQ_chr9_77711097_78036811	77975783	G G	GCCTCAGC others(841): Show GCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCTCA GCCCCGTTATCGGCCTTTTAATGGAGAGCAACAGGAAGAACAATCCTATA AAGCTCTCACTGCAATGAGAGTCATAGGATTCAGTGTGTTCTTTTGAAGA CCCTTCTGAGAGCTGTCCTTCTGATCCTGGCATCGGGAAGAGCCATGTCA CTGTTAAACAGTTTGTTTTAAAGATACTACAAGTGGTATAACTGATAAGG CTTCTATGTTATGCCAGTTGCTAGCAAGCTCCATGCCCAGTTTGAGGTTC ACTGACATTATGTGTATCATTTCATTCTGATTCCATTTACTATCCTGCAG TTGTTTTAACTTTTTGTCTTCCACCTGCTTCTAATTTATATTAGTTTATA TTTAACAAAAGCATCTTTAAATGCTTTTAGAAAAAGGTAGAACACAAAGT AAAGTGCCCAGTAAATGTTCAGCTCATTTTCAACAATCAAGGCTGAAGAA CAACTGGGGTCAGGTGTTAAGAGTCCTAACCAGTGGTAAAAATTGGCAGC CAAAAACTATCCACTCAACAGGCTTGGTTTTTGTTTTTTGGTTTTTGGTT TTTTTTTGTTTTTGTTTTTTTTGAGACAGAGTCTCGCTCTGTTGCCCAGG CTGGAGTGCAATGGCACGATCTCAACTCAGTGCAACCTCCGCCTCCCAGG TTCAGGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCA CGCGCTGCCACGCTGGCTAATTTTTGCATTTTTAGCAGAGATGGGGTTTC ACCATATTGGTCAGGCTGGTCTCAAACTCCTGACCTCGTGATCCACCCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0004 a0001c0001t0038g0004	1	282	0.0036	848	c.137 others(867): Show c.137-53439_137-53438insTGGGTGGATCACGAGGTCAGGAGTTT GAGACCAGCCTGACCAATATGGTGAAACCCCATCTCTGCTAAAAATGCAA AAATTAGCCAGCGTGGCAGCGCGTGCCTGTAATCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATCACCTGAACCTGGGAGGCGGAGGTTGCACTGAGTT GAGATCGTGCCATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCT CAAAAAAAACAAAAACAAAAAAAAACCAAAAACCAAAAAACAAAAACCAA GCCTGTTGAGTGGATAGTTTTTGGCTGCCAATTTTTACCACTGGTTAGGA CTCTTAACACCTGACCCCAGTTGTTCTTCAGCCTTGATTGTTGAAAATGA GCTGAACATTTACTGGGCACTTTACTTTGTGTTCTACCTTTTTCTAAAAG CATTTAAAGATGCTTTTGTTAAATATAAACTAATATAAATTAGAAGCAGG TGGAAGACAAAAAGTTAAAACAACTGCAGGATAGTAAATGGAATCAGAAT GAAATGATACACATAATGTCAGTGAACCTCAAACTGGGCATGGAGCTTGC TAGCAACTGGCATAACATAGAAGCCTTATCAGTTATACCACTTGTAGTAT CTTTAAAACAAACTGTTTAACAGTGACATGGCTCTTCCCGATGCCAGGAT CAGAAGGACAGCTCTCAGAAGGGTCTTCAAAAGAACACACTGAATCCTAT GACTCTCATTGCAGTGAGAGCTTTATAGGATTGTTCTTCCTGTTGCTCTC CATTAAAAGGCCGATAACGGGGCTGAGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCTGAGG	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	1/6			chr9	TogoVar
HSD17B14_chr19_48808018_48841491	48834455	G G	GGCCTGGA others(841): Show GGCCTGGACTCCTGGGTCTGAGGAAGTAGGGCCTGGGGGCCTGGACTCCT GGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAG GAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGT CTGGACTCCTGGGTCTGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGG TCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAG GGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCT GGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTC TGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGG GCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGG ACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTG AGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGGGCCT GGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACT CCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGG GAGGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGGAAGTAGGGCCTGGG GGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCT GGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAG GAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	394	0.0025	848	c.128 others(861): Show c.128-98_128-97insTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTC CAGGCTCCCAGCCCTTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGGC CCTACTTCCTCGGACCCAGGAGTCCAGGCTCCCAGCCCTTCCTCCCTCAG ACCCAGGAGTCCAGGCCCCCAGGCCCTACTTCCTCAGACCCAGGAGTCCA GACCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCCT CCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCTTCCTCCCTCAGACC CAGGAGTCCAGGCCCCCAGGCCCTACTTCCTCGGACCCAGGAGTCCAGAC CTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCT CCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCCTCCTCCCTCAGACCCAG GAGTCCAGGCTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCC CAGCCCTTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGGCCCTACTTC CTCGGACCCAGGAGTCCAGGCTCCCAGCCCTTCCTCCCTCAGACCCAGGA GTCCAGGCCCCCAGGCCCTACTTCCTCGGACCCAGGAGTCCAGGCTCCCA GCCCTTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGGCCCTACTTCCT CAGACCCAGGAGTCCAGACCTCAGCCCCTCCTCCCTCAGACCCAGGAGTC CAGGCTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCC CTTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGGCCCTACTTCCTCAG ACCCAGGAGTCCAGGC	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
IFFO2_chr1_18899280_18961676	18925853	T T	TGGATTGG others(841): Show TGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGG TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGT TGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATT GGTTGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGG TTGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGT TGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATTGG TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGG TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGT TGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTT GGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGA	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	376	0.0027	848	c.666 others(865): Show c.666-4733_666-4732insTCCAACCAATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAACCAT CCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAT CCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACC ATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCA TCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATC CATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCAACCAATCC	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(841): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGAT GGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGG ATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTG GTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18961.hp1 NA18955.hp2 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0014 a0001c0001t0001g0015	2	376	0.0053	848	c.666 others(865): Show c.666-4737_666-4736insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATC CATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCAACCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAA CCAATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATC CATCCATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
INS_chr11_2154779_2166209	2161948	C C	CACCCCTG others(841): Show CACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTG TCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACA CCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGT CCTCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCTCACA CCCCTGTCCCCAGGACCCTGTCCCCGGACCCCTGTCCCCACACCCCTGTC CCCGGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCAGAC CCCTATCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCC CCGGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACC CCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCC CACACCCCTATCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCC TGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCC ACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCC TGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTATCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTG TCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCACA CCCCTGTCCCCGGGACCCCTGTCCTCACACCCCTGTCCCCACACCCCTGT CCCCAGGACCCCTGTCCTCACACCCCTGTCCCCAGGACCCTGTCCCCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	376	0.0027	848	c.-79 others(857): Show c.-799_-798insCCGGGGACAGGGTCCTGGGGACAGGGGTGTGAGGAC AGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGAGGACAGGGGTC CCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGT GGGGATAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAG GGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTG GGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGG GGTCCCGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGG GGATAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGG GTCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGG ACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGG TGTGGGGATAGGGGTCTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGA CAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGACAGGGTC CTGGGGACAGGGGTGTGAGGACAGGGGTCCTGGGGACAGGGGTGTGGGGA CAGGGGTGTGAGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGT CTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGT GGGGACAGGGGT	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		740		chr11	TogoVar
JAKMIP3_chr10_132060946_132189858	132173149	T T	TCTCTCTC others(841): Show TCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTC CTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTC CCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCCCTCCCCCTCTGTCTCCCC CTCCCCCCTCTCTCTCCCCCTCCCCCTCCCCCCTCTCCCCTCCCCCCTCT CCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCATCCCCTCCCCCTCTCTCC CCCTCCCCCTCCCCCCTCCCCCTCCCCCCCATCCGCCTCCCCCCTCTCCC CCTCCCCCATCCCCCTCCCCTCCCCCCTCTCCCCCTCCCCCCTCCCCCTC CCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCTCCCCATCCCCCTCCCCC CTCCCCCTCCCCCTCTCTCCCCCTCCCCTCCCCCCTCCCCCTCCCGTCCC CCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTC CCCCTCCTTCCCTCTCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCC TTCCCTCTCCCCCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTC CCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCT TCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCCCCCCCTCCTTCCC TCTGTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCTTCCC CCTGTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCCTCCTTCCC TCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCCTCCTTCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01255.hp2 HG00642.hp1 HG01255.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0038 a0002c0004t0004g0040 a0002c0004t0004g0038 a0002c0004t0004g0040	2	158	0.0127	848	c.11 others(869): Show c.1103+4125_*1103+4126insCCCCTCCCCCTCCTTCCCTCTCTC TCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCC TCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCCCT CCCCCTCTGTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCTCCCCCCT CTCCCCTCCCCCCTCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCATC CCCTCCCCCTCTCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCCATCC GCCTCCCCCCTCTCCCCCTCCCCCATCCCCCTCCCCTCCCCCCTCTCCCC CTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCTC CCCATCCCCCTCCCCCCTCCCCCTCCCCCTCTCTCCCCCTCCCCTCCCCC CTCCCCCTCCCGTCCCCCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCC CCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCTCCCCCTCCTTCCCT CTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCCCCTCCTTCCCT CTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTC TCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTC TCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCTCCTTCCCTCTCTCTC TCTCCCCCTCCTTCCCCCTGTCTCTCTCCCCCTCCTTCCCCCTGTCTCTC TCTCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTC TCTCCCCCTCCTTCCCTCTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JUND_chr19_18274694_18286622	18284529	T T	TAATAATA others(841): Show TAATAATAATAATAATAATAATAATAAAGACCTGGCCGTGCGCGATGGCT CACTCCTATAATCCCAGCACTTTGGGAGTCCAAAGCGGGTGGATCATGAG GTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTAC TAAAAATTCAAAAATTAGCTGGGCGTGGTGGCGAATGCCTGTAGTCCCTG CTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCGGGAGGCGGAGG CTACAGTGAGCCAAGATTACGCCACTGCACTGCAGCCTGGGCAAAAGAGT AAGAATCCGTCTCAATAATAATAATAATAATAATAATAATAATAATGATA GGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCCCTTTGGGAGGCTGA GGCGGGCGGATCACCTGAGGTCGAGCGTTCGAGACCAGCTTGGCCAGCAT GGTGAAACCCCGTCTCCACTACAAATACAAAAATTAGCCAGGTGTGGTGG TGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGAAGAATCGCT TGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCAGAGGTTG CGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAACCCGTCTCTACTAAAAATACAAAA TGAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATCGGTTGAACCCAGGAATTGGAGGTTGCGGTGAGCCGA GATTGCACCATTGCACTCCAGCCTGGGCAACGAGCGAAACTCTGCCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	408	0.0025	848	c.-30 others(859): Show c.-3046_-3045insGTAGGCAGAGTTTCGCTCGTTGCCCAGGCTGGAG TGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTCAAC CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCC ACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGCGC GATCTTGGCTCACCGCAACCTCTGGCACGATCTTGGCTCACTGCAACCTC TGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAGCTGG GATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTAGTGG AGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGACCTCA GGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTATTATTA TTGAGACGGATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAAT CTTGGCTCACTGTAGCCTCCGCCTCCCGGGCTCAAGCAATTCTCCTGCCT CAGCCTCCCAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTA ATTTTTGAATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGG TCTTGATCTCCTGACCTCATGATCCACCCGCTTTGGACTCCCAAAGTGCT GGGATTATAGGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTA TTATTATTATTATT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2908		chr19	TogoVar
JUND_chr19_18274694_18286622	18284532	T T	TAATAATA others(841): Show TAATAATAATAATAATAATAATAATAATAAAGACCTGGCCGTGCGCGATG GCTCACTCCTATAATCCCAGCACTTTGGGAGTCCAAAGCAGGTGGATCAT GAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTC TACTAAAAATTCAAAAATTAGCTGGGCGTGGTGGCGAATGCCTGTAGTCC CTGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCGGGAGGCGG AGGCTACAGTGAGCCAAGATTACGCCACTGCACTGCAGCCTGGGCAAAAG AGTAAGAATCCGTCTCAATAATAATAATAATAATAATAATAATAATGATA GGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCCCTTTGGGAGGCTGA GGCGGGCGGATCACCTGAGGTCGAGCGTTCGAGACCAGCTTGGCCAGCAT GGTGAAACCCCGTCTCCACTACAAATACAAAAATTAGCCAGGTGTGGTGG TGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGAAGAATCGCT TGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCAGAGGTTG CGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAACCCGTCTCTACTAAAAATACAAAA TGAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATCGGTTGAACCCAGGAATTGGAGGTTGCGGTGAGCCGA GATTGCACCATTGCACTCCAGCCTGGGCAACGAGCGAAACTCTGCCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18995.hp2 NA18999.hp1 others(2): Show NA18944.hp2 NA18995.hp2 NA18999.hp1 NA19005.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	5	408	0.0123	848	c.-30 others(859): Show c.-3049_-3048insGTAGGCAGAGTTTCGCTCGTTGCCCAGGCTGGAG TGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTCAAC CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCC ACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGCGC GATCTTGGCTCACCGCAACCTCTGGCACGATCTTGGCTCACTGCAACCTC TGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAGCTGG GATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTAGTGG AGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGACCTCA GGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTATTATTG AGACGGATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCTT GGCTCACTGTAGCCTCCGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCAG CCTCCCAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAATT TTTGAATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCT TGATCTCCTGACCTCATGATCCACCTGCTTTGGACTCCCAAAGTGCTGGG ATTATAGGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTATTA TTATTATTATTATT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2911		chr19	TogoVar
JUND_chr19_18274694_18286622	18284532	T T	TAATAATA others(841): Show TAATAATAATAATAATAATAATAATAATAAAGACCTGGCCGTGCGCGATG GCTCACTCCTATAATCCCAGCACTTTGGGAGTCCAAAGCGGGTGGATCAT GAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTC TACTAAAAATTCAAAAATTAGCTGGGCGTGGTGGCGAATGCCTGTAGTCC CTGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCGGGAGGCGG AGGCTACAGTGAGCCAAGATTACGCCACTGCACTGCAGCCTGGGCAAAAG AGTAAGAATCCGTCTCAATAATAATAATAATAATAATAATAATAATGATA GGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCCCTTTGGGAGGCTGA GGCGGGCGGATCACCTGAGGTCGAGCGTTCAAGACCAGCTTGGCCAGCAT GGTGAAACCCCGTCTCCACTACAAATACAAAAATTAGCCAGGTGTGGTGG TGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGAAGAATCGCT TGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCAGAGGTTG CGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAACCCGTCTCTACTAAAAATACAAAA TGAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATCGGTTGAACCCAGGAATTGGAGGTTGCGGTGAGCCGA GATTGCACCATTGCACTCCAGCCTGGGCAACGAGCGAAACTCTGCCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 NA18961.hp2 NA19068.hp1 others(1): Show HG00544.hp2 NA18961.hp2 NA19068.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	4	408	0.0098	848	c.-30 others(859): Show c.-3049_-3048insGTAGGCAGAGTTTCGCTCGTTGCCCAGGCTGGAG TGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTCAAC CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCC ACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGCGC GATCTTGGCTCACCGCAACCTCTGGCACGATCTTGGCTCACTGCAACCTC TGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAGCTGG GATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTAGTGG AGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTTGAACGCTCGACCTCA GGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTATTATTG AGACGGATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCTT GGCTCACTGTAGCCTCCGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCAG CCTCCCAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAATT TTTGAATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCT TGATCTCCTGACCTCATGATCCACCCGCTTTGGACTCCCAAAGTGCTGGG ATTATAGGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTATTA TTATTATTATTATT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2911		chr19	TogoVar
JUND_chr19_18274694_18286622	18284532	T T	TAATAATA others(841): Show TAATAATAATAATAATAATAATAATAATAAAGACCTGGCCGTGCGCGATG GCTCACTCCTATAATCCCAGCACTTTGGGAGTCCAAAGCGGGTGGATCAT GAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTC TACTAAAAATTCAAAAATTAGCTGGGCGTGGTGGCGAATGCCTGTAGTCC CTGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCGGGAGGCGG AGGCTACAGTGAGCCAAGATTACGCCACTGCACTGCAGCCTGGGCAAAAG AGTAAGAATCCGTCTCAATAATAATAATAATAATAATAATAATAATGATA GGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCCCTTTGGGAGGCTGA GGCGGGCGGATCACCTGAGGTCGAGCGTTCGAGACCAGCTTGGCCAGCAT GGTGAAACCCCGTCTCCACTACAAATACAAAAATTAGCCAGGTGTGGTGG TGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGAAGAATCGCT TGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCAGAGGTTG CGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAACCCGTCTCTACTAAAAATACAAAA TGAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATCGGTTGAACCCAGGAATTGGAGGTTGCGGTGAGCCGA GATTGCACCATTGCACTCCAGCCTGGGCAACGAGCGAAACTCTGCCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01109.hp1 HG01192.hp2 others(34): Show HG00738.hp2 HG01109.hp1 HG01192.hp2 HG01257.hp1 HG01358.hp1 HG01952.hp1 HG02071.hp2 HG02132.hp1 HG02132.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02602.hp2 HG02683.hp1 HG03490.hp2 HG03654.hp2 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18951.hp1 NA18959.hp1 NA18967.hp2 NA18971.hp1 NA18978.hp2 NA18984.hp2 NA18991.hp1 NA18998.hp1 NA19003.hp2 NA19057.hp1 NA19065.hp2 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0003 a0001c0001t0011 a0001c0001t0018 others(1): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0018 a0001c0006t0003	a0001c0001t0003g0000 a0001c0001t0011g0000 a0001c0001t0018g0000 others(1): Show a0001c0001t0003g0000 a0001c0001t0011g0000 a0001c0001t0018g0000 a0001c0006t0003g0000	37	408	0.0907	848	c.-30 others(859): Show c.-3049_-3048insGTAGGCAGAGTTTCGCTCGTTGCCCAGGCTGGAG TGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTCAAC CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCC ACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGCGC GATCTTGGCTCACCGCAACCTCTGGCACGATCTTGGCTCACTGCAACCTC TGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAGCTGG GATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTAGTGG AGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGACCTCA GGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTATTATTG AGACGGATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCTT GGCTCACTGTAGCCTCCGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCAG CCTCCCAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAATT TTTGAATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCT TGATCTCCTGACCTCATGATCCACCCGCTTTGGACTCCCAAAGTGCTGGG ATTATAGGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTATTA TTATTATTATTATT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2911		chr19	TogoVar
JUND_chr19_18274694_18286622	18284532	T T	TAATAATA others(841): Show TAATAATAATAATAATAATAATAATAATAAAGACCTGGCCGTGCGCGCTG GCTCACTCCTATAATCCCAGCACTTTGGGAGTCCAAAGCGGGTGGATCAT GAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTC TACTAAAAATTCAAAAATTAGCTGGGCGTGGTGGCGAATGCCTGTAGTCC CTGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCGGGAGGCGG AGGCTACAGTGAGCCAAGATTACGCCACTGCACTGCAGCCTGGGCAAAAG AGTAAGAATCCGTCTCAATAATAATAATAATAATAATAATAATAATGATA GGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCCCTTTGGGAGGCTGA GGCGGGCGGATCACCTGAGGTCGAGCGTTCGAGACCAGCTTGGCCAGCAT GGTGAAACCCCGTCTCCACTACAAATACAAAAATTAGCCAGGTGTGGTGG TGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGAAGAATCGCT TGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCAGAGGTTG CGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAACCCGTCTCTACTAAAAATACAAAA TGAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATCGGTTGAACCCAGGAATTGGAGGTTGCGGTGAGCCGA GATTGCACCATTGCACTCCAGCCTGGGCAACGAGCGAAACTCTGCCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0000 a0001c0001t0011g0000	1	408	0.0025	848	c.-30 others(859): Show c.-3049_-3048insGTAGGCAGAGTTTCGCTCGTTGCCCAGGCTGGAG TGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTCAAC CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCC ACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGCGC GATCTTGGCTCACCGCAACCTCTGGCACGATCTTGGCTCACTGCAACCTC TGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAGCTGG GATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTAGTGG AGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGACCTCA GGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTATTATTG AGACGGATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCTT GGCTCACTGTAGCCTCCGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCAG CCTCCCAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAATT TTTGAATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCT TGATCTCCTGACCTCATGATCCACCCGCTTTGGACTCCCAAAGTGCTGGG ATTATAGGAGTGAGCCAGCGCGCACGGCCAGGTCTTTATTATTATTATTA TTATTATTATTATT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2911		chr19	TogoVar
JUND_chr19_18274694_18286622	18284532	T T	TAATAATA others(841): Show TAATAATAATAATAATAATAATAATAATAATAATAAAGACCTGGCCGTGC GCGATGGCTCACTCCTATAATCCCAGCACTTTGGGAGTCCAAAGCGGGTG GATCATGAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAACCC TGTCTCTACTAAAAATTCAAAAATTAGCTGGGCGTGGTGGCGAATGCCTG TAGTCCCTGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCGGG AGGCGGAGGCTACAGTGAGCCAAGATTACGCCACTGCACTGCAGCCTGGG CAAAAGAGTAAGAATCCGTCTCAATAATAATAATAATAATAATAATGATA GGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCCCTTTGGGAGGCTGA GGCGGGCGGATCACCTGAGGTCGAGCGTTCGAGACCAGCTTGGCCAGCAT GGTGAAACCCCGTCTCCACTACAAATACAAAAATTAGCCAGGTGTGGTGG TGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGAAGAATCGCT TGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCAGAGGTTG CGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAACCCGTCTCTACTAAAAATACAAAA TGAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATCGGTTGAACCCAGGAATTGGAGGTTGCGGTGAGCCGA GATTGCACCATTGCACTCCAGCCTGGGCAACGAGCGAAACTCTGCCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	408	0.0025	848	c.-30 others(859): Show c.-3049_-3048insGTAGGCAGAGTTTCGCTCGTTGCCCAGGCTGGAG TGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTCAAC CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCC ACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGCGC GATCTTGGCTCACCGCAACCTCTGGCACGATCTTGGCTCACTGCAACCTC TGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAGCTGG GATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTAGTGG AGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGACCTCA GGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTGAGACGG ATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCTTGGCTCA CTGTAGCCTCCGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCAGCCTCCC AAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAATTTTTGAA TTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCT CCTGACCTCATGATCCACCCGCTTTGGACTCCCAAAGTGCTGGGATTATA GGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTATTATTATTA TTATTATTATTATT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2911		chr19	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(841): Show CGCCCCCACAGCCGCCCCCCCCACAGCTGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCCG CCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACACGCCCCCCACAGCCG CCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACA GCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCA CAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCACCCC CCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCC CCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCG CCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGC CGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACA GCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCA CAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCC CACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCC CCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0004 a0004c0008t0004	a0004c0008t0004g0016 a0004c0008t0004g0016	1	312	0.0032	848	c.-41 others(863): Show c.-41+629_-41+630insCCCACAGCTGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCC GCCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACACGCCCCCCACAGCC GCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCAC AGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCC ACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCACCC CCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGCCGC CCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACAGCC GCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAG CCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCAC AGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCC ACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCC CCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCC CCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCT GCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KIF25_chr6_167992671_168050091	167997208	G G	GGGGGCGG others(841): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGT CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATC TGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCA GAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGA GGTGGGGGCGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0322 a0001c0001t0002g0322	1	375	0.0027	848	c.-22 others(859): Show c.-2261_-2260insGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGATGGGGGCGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGTCGGGGGAATCTGCAGAGATAGGGTCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGG GGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG TCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATAGGGTCGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATAGGGTCGGGG GAATCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		462		chr6	TogoVar
LHFPL3_chr7_104323603_104913561	104824253	A A	ATATTATA others(841): Show ATATTATATATTATATATTATATATATAATATATATATTATATATTATAT ATATAATATATATATTATATATTATATATTATATATAATATATATATTAT ATATTATATATTATATATATAATATATATATTATATATTATATATTATAT ATATAATATATATATTATATATTATATATTATATATATAATATATATATT ATATATTATATATTATATATATTATATATATATTATATATTATATAATAT ATATATTATATATTATATATATTATATTATATATTATATATATAATATAT TATATTATATATATTATATAATATATTATATATTATATATATATTATATA ATATATTATATATAATTATATATATTTTATATATTATATATTATATATTA TATATTATATATTATATTATATATAATTATATATATTTTATATATTATAT ATTATATATTATATATTATATATTATATATATTATATATTATATATTATA TATTATATATATTATATATTATATATTATATATACAATTATATATATTAT ATATATTATATATTATATATATTATATTATATAATATATTATATATATAA TATATATTATATATTATATATTATATAATATATTATATATATAATATATA TTATATATTATATATTATATAATATATTATATATATAATATATATTATAT ATTATATATTATATAATATATTATATATATAATATATATTATATATTATA TATTATATAATATATTATATATATAATATATATTATATAATATATATTAT ATATATATTATATATATAATATATATTATATAATATATATTATATAAAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02572.hp2 HG02559.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0007 a0001c0003t0002 a0001c0001t0007 a0001c0003t0002	a0001c0001t0007g0004 a0001c0003t0002g0065 a0001c0001t0007g0004 a0001c0003t0002g0065	2	86	0.0233	848	c.683 others(867): Show c.683-81934_683-81933insTATTATATATTATATATTATATATAT AATATATATATTATATATTATATATATAATATATATATTATATATTATAT ATTATATATAATATATATATTATATATTATATATTATATATATAATATAT ATATTATATATTATATATTATATATATAATATATATATTATATATTATAT ATTATATATATAATATATATATTATATATTATATATTATATATATTATAT ATATATTATATATTATATAATATATATATTATATATTATATATATTATAT TATATATTATATATATAATATATTATATTATATATATTATATAATATATT ATATATTATATATATATTATATAATATATTATATATAATTATATATATTT TATATATTATATATTATATATTATATATTATATATTATATTATATATAAT TATATATATTTTATATATTATATATTATATATTATATATTATATATTATA TATATTATATATTATATATTATATATTATATATATTATATATTATATATT ATATATACAATTATATATATTATATATATTATATATTATATATATTATAT TATATAATATATTATATATATAATATATATTATATATTATATATTATATA ATATATTATATATATAATATATATTATATATTATATATTATATAATATAT TATATATATAATATATATTATATATTATATATTATATAATATATTATATA TATAATATATATTATATATTATATATTATATAATATATTATATATATAAT ATATATTATATAATATATATTATATATATATTATATATATAATATATATT ATATAATATATATTATATAAAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2			chr7	TogoVar
LHFPL3_chr7_104323603_104913561	104824253	A A	ATTATATA others(841): Show ATTATATATTATATATTATATATATAATATATATATTATATATTATATAT TATATATATAATATATATATTATATATTATATATATAATATATATATTAT ATATTATATATTATATATAATATATATATTATATATTATATATTATATAT ATAATATATATATTATATATTATATATTATATATATAATATATATATTAT ATATTATATATTATATATATTATATATATATTATATATTATATAATATAT ATATTATATATTATATATATTATATTATATATTATATATATAATATATTA TATTATATATATTATATAATATATTATATATTATATATATATTATATAAT ATATTATATATAATTATATATATTTTATATATTATATATTATATATTATA TATTATATATTATATATTATATTATATATAATTATATATATTTTATATAT TATATATTATATATTATATATTATATATTATATATATTATATATTATATA TTATATATTATATATATTATATATTATATATTATATATACAATTATATAT ATTATATATATTATATATTATATATATTATATTATATAATATATTATATA TATAATATATATTATATATTATATATTATATAATATATTATATATATAAT ATATATTATATATTATATATTATATAATATATTATATATATAATATATAT TATATATTATATATTATATAATATATTATATATATAATATATATTATATA TTATATATTATATATTATATATATAATATATATTATATAATATATATTAT ATATATATTATATATATAATATATATTATATAATATATATTATATAAAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	86	0.0116	848	c.683 others(867): Show c.683-81934_683-81933insTTATATATTATATATTATATATATAA TATATATATTATATATTATATATTATATATATAATATATATATTATATAT TATATATATAATATATATATTATATATTATATATTATATATAATATATAT ATTATATATTATATATTATATATATAATATATATATTATATATTATATAT TATATATATAATATATATATTATATATTATATATTATATATATTATATAT ATATTATATATTATATAATATATATATTATATATTATATATATTATATTA TATATTATATATATAATATATTATATTATATATATTATATAATATATTAT ATATTATATATATATTATATAATATATTATATATAATTATATATATTTTA TATATTATATATTATATATTATATATTATATATTATATATTATATTATAT ATAATTATATATATTTTATATATTATATATTATATATTATATATTATATA TTATATATATTATATATTATATATTATATATTATATATATTATATATTAT ATATTATATATACAATTATATATATTATATATATTATATATTATATATAT TATATTATATAATATATTATATATATAATATATATTATATATTATATATT ATATAATATATTATATATATAATATATATTATATATTATATATTATATAA TATATTATATATATAATATATATTATATATTATATATTATATAATATATT ATATATATAATATATATTATATATTATATATTATATATTATATATATAAT ATATATTATATAATATATATTATATATATATTATATATATAATATATATT ATATAATATATATTATATAAAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2			chr7	TogoVar
LORICRIN_chr1_153254687_153267124	153256755	A A	ATAAAACT others(841): Show ATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACAT ATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAG TCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTAA ATATAGTCATATATGTATATAAAACTATATATAGTTATATGTATATAAAA CTATATATAGTTATATGTATATAAAACTATAGTCATATATGTATATAAAA CTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTAT ATAAAACTATATACAGTCATATATGTATATAAAATTATATACAGTCATAT ATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATACAGTC ATATATGTATATAAAACTATATATAGTCATATATGTATATAAAACTATAT ATAGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAAAA CTATATATAGTCATATATGTATATAAAACTATATAGTTATATATGTATAT AAAACTATATAGTTATATATGTATATAAAACTATATAGTTATATATGTAT ATAAAACTATAGTTATATATGTATATAAAACTATAGTTATATATGTATAT AAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAA AACTATAGTTATATATGTAAAACTATAGTTATATATGTATGTAAAACTAT AGTTATATATGTATGTAAAACTATATACAGTTATGTATGTATGTAAAACT ATATACAGTTATGTATGTATGTAAAACTATATACAGTTATGTATGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0001 a0002c0005t0001g0001	1	422	0.0024	848	c.-30 others(859): Show c.-3002_-3001insTAAAACTATATATAGTCACATATGTATATAAAAC TATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATA TAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATA TGTATATAAAACTAAATATAGTCATATATGTATATAAAACTATATATAGT TATATGTATATAAAACTATATATAGTTATATGTATATAAAACTATAGTCA TATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATA CAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAAT TATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATA TAAAACTATACAGTCATATATGTATATAAAACTATATATAGTCATATATG TATATAAAACTATATATAGTCATATATGTATATAAAACTATATATAGTCA TATATGTATATAAAACTATATATAGTCATATATGTATATAAAACTATATA GTTATATATGTATATAAAACTATATAGTTATATATGTATATAAAACTATA TAGTTATATATGTATATAAAACTATAGTTATATATGTATATAAAACTATA GTTATATATGTATATAAAACTATAGTTATATATGTATGTAAAACTATAGT TATATATGTATGTAAAACTATAGTTATATATGTAAAACTATAGTTATATA TGTATGTAAAACTATAGTTATATATGTATGTAAAACTATATACAGTTATG TATGTATGTAAAACTATATACAGTTATGTATGTATGTAAAACTATATACA GTTATGTATGTATG	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2931		chr1	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCTCT others(841): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCTCCTCTCTCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCC TCCCCTCCTCTCTCCTCCCCTCCCCTCCCTCCTCTCTCCTCCCCTCCCCT CCCCTCCTCTCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCT CTCCTCCGCTCCGCTCCCCTCTCCTCCACTCCTCTCCCCTCCCTTCCCCT CTCCTCCCCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCCCTCCCCT CCTCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTCCCCTCCCCTCTC CTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCC CTCCCCTCTCCTCCGCTCCTCTCCCCCTCCCTTCCCCTCTCCTCCCCTCC TCTCTCCTCCCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCC CTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCTGCTCC TCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCT CCTCCGCTCCCCTCCCCTCTCCTCACTCCTCTCCCCTCTCCTCCACTCCT CTCCCCTCCCCTCCTCTCTCCTCCACTCCTCTCCCCTCCTCTCCTCTCTC CTCCCCTCCCCTCTCCTCCCCTCCCCACCCCTCCCCTCCCCTCCTTTCTC CTCCCCTCCCCACGGCTCCCCTCCCCTCCTTTCTCCTCCCTTGCGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0056 a0001c0001t0012g0056	1	318	0.0031	848	c.-49 others(859): Show c.-4998_-4997insAGGACGCAAGGGAGGAGAAAGGAGGGGAGGGGAG CCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGAG GAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGAG AGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGAGGAGTGAGGAGAGG GGAGGGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGG GGAAGGGAGGGGAGAGGAGCAGAGGAGAGGGGAGGGGAGGAGAGAGGAGG GGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGC GGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGGAGAGGAG CGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAG GGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGAGAGGGGAGGGG AGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGGGGAAGGGAGGGG AGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGTGGAGGAGAGGGG AGCGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAGG GGAGGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGAGGGGAGGGGA GGAGAGAGGAGGGGAGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGAGAG AGGAGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGA GGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGACAGA GGAGGAGAGAGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATAAAAA others(841): Show AATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATAT CATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTAT ATATCATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTT ATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATAAATAAAAATTTATATT TATATATCATATATAAAAATTTATATTTATATATCATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAA AATTTATATTTATATATCATATATAAAAATTTATATATATCATATATAAA AATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATA TAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	350	0.0029	848	c.-28 others(859): Show c.-2892_-2891insATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATAAAAATTTATATTTATATATCATATA TAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCA TATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATAT ATCATATATAAAAATTTATATATATCATATATAAAAATTTATATTTATAT ATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTT ATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAA ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(841): Show AGAAGAGAGGGGAGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAAG GAGAAGGGAGGGGTGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGGG GAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGAG GGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGGAG GGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGA AGGGGAGGGAGGAGGGGAGGAGGGGGAGGGAGGAGGGGAGGGGAGGAGGG GAGGGGAGGAGGGGAGGGGAGGAGGGGAGGAGGGGAGGGGAGGAGGGGGA GGGGAGGAGGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGGAGGGGAGGAG GGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGGAGGG GAGGGGGGAGGGGAGGGGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGG AGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGA GGAGGGGGAGGGGAGGAAAGGAAGGGAGGGAAGGGGAGGGGAGGAGTGGA GAGGAGGATGAGGGGAGGGGAGGGGAGGAGTGGAGAGGAGGGTAAGGGAA GGAAGCAGAGGAGGGAGGAGTGGAGAGGAGGGGAAGGGAGGGGAGGGGTG CGGGAGGGGAGGGGTGCGGGAGGGGAGGGTAAGGGAAGGGAGGGGAGGGT GGGGGAGGGGAGGGAAGAGGAGTGGAGAGGAGGAGAAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0001 a0011c0020t0001	a0011c0020t0001g0168 a0011c0020t0001g0168	1	208	0.0048	848	c.279 others(863): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCTTCCCCTCCTCTCCAC TCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTCCCCTC CCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCCCTTCC TTTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCC CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCC TCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCC TCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCTCCCCCTC CTCCCCTCCTCCCTCCCCTTCCTCCCCCTCCTCCCCTCCCCCTCCTCCCC TCCCCCTCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCCCTTCCCCTCCCCCT TCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCTCCCCTTCCCCTCCCC TTCCCACCCCTCCCTTCTCCTTCCCCCTCCCCTTCCCTCCCTTCCCTTCT CCCCCCTCCCCTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar
NRIP1_chr21_14956235_15070000	15031103	C C	CACATTCC others(841): Show CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGTTCAGAGGTTCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGGTTGGAGGTTCAC CACATTCCCTTTCTATGTATATACACTCTGGAAGGCGCTCGGAGGATCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCTCGGAGGATCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCTCGGAGGATCAC CACATTCCCTTTCTATGGGTGTACACTCTGGAAGGCGTTCAGAGGTTCAC CACATTCCCTTTCTATGTATATACACTCTGGAAGGCGGTTGGAGGTTCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCTCGGAGGATCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCTCGGAGGATCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCTCGGAGGATCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGGTTGGAGGATCAC TACCTTCCCCTTCTATGTGTGTACACTCTGGAAGGCGTTCGGAGGATCAC CACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCGCTCGGAGGATCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGCGCTCGGAGGGTCAC TACATTCCCTTTCTATGTGTGTACACTCTGGAAGGCACTCAGAGGATCAC CACATTCCCTTTCTATGTGTATACACTCTGGAAGGTGTTCAGAGGTTCAC CACATTCCCTTTCTATGTGTATACTCTGGAAGGCGGTTGGAGGTTCACT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0050 a0002c0003t0003g0050	1	398	0.0025	848	c.-45 others(869): Show c.-458+12391_-458+12392insAGTGAACCTCCAACCGCCTTCCAG AGTATACACATAGAAAGGGAATGTGGTGAACCTCTGAACACCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGATCCTCTGAGTGCCTTCCAGAG TGTACACACATAGAAAGGGAATGTAGTGACCCTCCGAGCGCCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGATCCTCCGAGCGCCTTCCAGAG TGTACACACATAGAAAGGGAATGTGGTGATCCTCCGAACGCCTTCCAGAG TGTACACACATAGAAGGGGAAGGTAGTGATCCTCCAACCGCCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGATCCTCCGAGCGCCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGATCCTCCGAGCGCCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGATCCTCCGAGCGCCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGAACCTCCAACCGCCTTCCAGAG TGTATATACATAGAAAGGGAATGTGGTGAACCTCTGAACGCCTTCCAGAG TGTACACCCATAGAAAGGGAATGTGGTGATCCTCCGAGCGCCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGATCCTCCGAGCGCCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGATCCTCCGAGCGCCTTCCAGAG TGTATATACATAGAAAGGGAATGTGGTGAACCTCCAACCGCCTTCCAGAG TGTATACACATAGAAAGGGAATGTGGTGAACCTCTGAACGCCTTCCAGAG TGTACACACATAGAAAGGGAATGT	NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3			chr21	TogoVar
NXN_chr17_794310_984776	841586	C C	CCACAGGC others(841): Show CCACAGGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGG TCCACCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCCCCCTGAC CACGGAGCATCTCATGCCGGCGAGCAGGTCCCCCCGACCACGGCGCATCT CACACCCACAGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAG CAGGTCCACCCTGACCACGGCGCATCTCATGCCGGCGAGCAGGTCCCCCC GACCACGGCGCATCTCACACCCACGGGCAGGTCCCCCCTGACCACGGAGC ATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCA CAGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCA CCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGG CGCATCTCACACCCACAGGCAGGTCCCCCCTGACCACGGAGCATCTCACA CGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACCCGCGAGCAG GTCCCCCCTGACCACGGAGCATCTCATGCCGGCGAGCAGGTCCCCCCGAC CACGGCGCATCTCACACCCACAGGCAGGTCCCCCCGACCACGGCGCATCT CACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCATGCCGGCGA GCAGGTCCCCCCGACCACGGCGCATCTCACACCCACGGGCAGGTCCCCCC GACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGCGC ATCTCACACCCACAGGCAGGTCCCCCCTGACCACAGCGCATCTCACACG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	242	0.0041	848	c.361 others(867): Show c.361-15509_361-15508insCGTGTGAGATGCGCTGTGGTCAGGGG GGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCG CCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCCGTGGGTGTGAGAT GCGCCGTGGTCGGGGGGACCTGCTCGCCGGCATGAGATGCGCCGTGGTCA GGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGC CTGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCGGCATGA GATGCTCCGTGGTCAGGGGGGACCTGCTCGCGGGTGTGAGATGCGCCGTG GTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGA CCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCG TGTGAGATGCTCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCG CCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGG GGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCCCG TGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCGGCATGAGAT GCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTC GGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGC TCGCCGGCATGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCGGGTGTG AGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCTCCGT GGTCAGGGGGGACCTGCCTGTG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OR2T1_chr1_248398048_248413020	248408342	G G	GAGTTTAG others(841): Show GAGTTTAGCTCGGGCTAGCGCATTTGACTGTAGATAGCGGCAGATGGTCA CGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGG TCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGA TGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGC AGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTCACTGCAGATAGC GGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGAT AGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTA GATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACT GTAGATAGCGGCAGATGGTCACAGGAGTTTAGCTCGGGCTAGCGCATTTG ACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGCGCAT TTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGCG CATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTA GAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGG CTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTC GGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAG CTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTT TAGCTCGGGCTAGAGCATTTGACTGCAGATAGCGGCAGATGGTCACGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0153 a0001c0001t0006g0153	1	266	0.0038	848	c.12 others(859): Show c.1238_*1239insAGTTTAGCTCGGGCTAGCGCATTTGACTGTAGAT AGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTA GATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACT GTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTG ACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAGCAT TTCACTGCAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTAGAG CATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGGCTA GAGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAGCTCGGG CTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACAGGAGTTTAGCTC GGGCTAGCGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTTTAG CTCGGGCTAGCGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGAGTT TAGCTCGGGCTAGCGCATTTGACTGTAGATAGCGGCAGATGGTCACGGGA GTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTCACG GGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATGGTC ACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAGATG GTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGTAGATAGCGGCAG ATGGTCACGGGAGTTTAGCTCGGGCTAGAGCATTTGACTGCAGATAGCGG CAGATGGTCACGGC	OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding		323		chr1	TogoVar
PIAS4_chr19_4002736_4044386	4011690	T T	TTTGGTGT others(841): Show TTTGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG AGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGGG TGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGG GTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGG GGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGG GTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGG GGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGG GTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAAGTGTGTGG GGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGG GGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0302 a0001c0004t0003g0302	1	334	0.0030	848	c.28- others(863): Show c.28-1233_28-1232insTTGGTGTGGAGGTGTGTTTGGTGTGGAGCT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTTTGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGTGGGGTGTGGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGT TTGGTGTGGAAGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGA	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10			chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48834455	G G	GGCCTGGA others(841): Show GGCCTGGACTCCTGGGTCTGAGGAAGTAGGGCCTGGGGGCCTGGACTCCT GGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAG GAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGT CTGGACTCCTGGGTCTGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGG TCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAG GGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCT GGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTC TGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGG GCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGG ACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTG AGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGGGCCT GGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACT CCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGG GAGGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGGAAGTAGGGCCTGGG GGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCT GGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAG GAAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	300	0.0033	848	c.28 others(859): Show c.2833_*2834insTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCA GGCTCCCAGCCCTTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGGCCC TACTTCCTCGGACCCAGGAGTCCAGGCTCCCAGCCCTTCCTCCCTCAGAC CCAGGAGTCCAGGCCCCCAGGCCCTACTTCCTCAGACCCAGGAGTCCAGA CCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCCTCC TCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCTTCCTCCCTCAGACCCA GGAGTCCAGGCCCCCAGGCCCTACTTCCTCGGACCCAGGAGTCCAGACCT CAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCC CTCAGACCCAGGAGTCCAGGCTCCCAGCCCCTCCTCCCTCAGACCCAGGA GTCCAGGCTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCA GCCCTTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGGCCCTACTTCCT CGGACCCAGGAGTCCAGGCTCCCAGCCCTTCCTCCCTCAGACCCAGGAGT CCAGGCCCCCAGGCCCTACTTCCTCGGACCCAGGAGTCCAGGCTCCCAGC CCTTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGGCCCTACTTCCTCA GACCCAGGAGTCCAGACCTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCA GGCTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCT TCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGGCCCTACTTCCTCAGAC CCAGGAGTCCAGGC	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2641		chr19	TogoVar
PLEKHG4B_chr5_87168_194966	100716	C C	CCTGTAGG others(841): Show CCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAA AAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGG AAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCC TGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAG CCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATA AAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCAT ATAAAGCCCTGGAGAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATC CATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTA ATCCATATAAAACCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGG TAAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTG AGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTT GTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACT GTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAG ACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGA GAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGG GGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGT AGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0008	a0001c0007t0008g0145 a0001c0007t0008g0145	1	210	0.0048	848	c.45+ others(863): Show c.45+8539_45+8540insAAAAAGCCTGTAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTG TGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTG TTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGA CTGTTGTGAGGTTAATCCATATAAAGCCCTGGAGAAAGCCTGTAGGGGAG AGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGG GAGAGACTGTTGTGAGGTTAATCCATATAAAACCCTGGAAAAAGCCTGTA GGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAGTCT GTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAG TCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAA AAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGG AAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCC TGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAG CCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATA AAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCAT ATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATC CATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTA ATCCATATAAAGCCCTGG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	100998	G G	GTTGTGAG others(841): Show GTTGTGAGGTTAATCCATATAAAGCCCTGGAGAAAGCCTGTAGGGGAGAG ACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGA GAGACTGTTGTGAGGTTAATCCATATAAAACCCTGGAAAAAGCCTGTAGG GGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAGTCTGT AGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTC TGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAA GCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAA AAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTG GAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCC CTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAA GCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATAT AAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCA TATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAAT CCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTA AATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAG GTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGT GAGGTAAATCCATATAAAGCCCTGGAAAAAGTCTATAGGGGAGAGACTA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0008	a0001c0007t0008g0143 a0001c0007t0008g0143	1	210	0.0048	848	c.45+ others(863): Show c.45+8731_45+8732insTAATCCATATAAAGCCCTGGAGAAAGCCTG TAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGC CTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAACCCTGGAAAA AGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGA AAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCT GGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGC CCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAA AGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATA TAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCC ATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAA TCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGT TAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTG TGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTG TTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGA CTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAG AGACTGTTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAGTCTATAGGG GAGAGACTATTGTGAGGT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PNPLA7_chr9_137454952_137555402	137502691	A A	ATGTGGGA others(841): Show ATGTGGGAGATGAGGGGGACGGGGGGGACGGGGGGGACGCGGGGGACGGG GGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGACGCGGGGGA CGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGGGG GGGACGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGAC GGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGACGCGGG GGACGCGGGGGACGGGGGGGACGGGGGACGCGGGGGACGCGGGGGACGGG GGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGACGCGGGGGA CGCGGGGGACGGGGGGGACGGGGGACGCGGGGGACGGGGGGGACGGGGGG GACGGGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGGGGGACGCGG GGGACGGGGGGGACGGGGGGGACGGGGGACGCGGGGGACGGGGGGGACGG GGGACGCGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGGGGGACGC GGGGGACGCGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGCGGGGG ACGCGGGGGACGCGGGGGACGGGGGGGGCGGGGGGGACGCGGGGGACGCG GGGGACGCGGGGGACGGGGGGGCGGGGGGGACGCGGGGGGGCGGGGGGGA CGCGGGGGACGGGGGGGGACGGGGGGGACGCGGGGGGACGGGGGGGGACG GGGGGGACGGGGGGGACGGGGGGGACGGGGGGGGACGGGGGGGACGCGGG GGGACGGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGACGGGGGGG	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0004 a0002c0003t0001g0004	1	188	0.0053	848	c.147 others(865): Show c.1474-965_1474-964insCCCCCCCGTCCCCCGCGTCCCCCCCGTC CCCCCCGTCCCCCCCCGTCCCCCCGCGTCCCCCCCGTCCCCCCCCGTCCC CCCCGTCCCCCCCGTCCCCCCCGTCCCCCCCCGTCCCCCCGCGTCCCCCC CGTCCCCCCCCGTCCCCCGCGTCCCCCCCGCCCCCCCGCGTCCCCCCCGC CCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCGCGTCCCCCCCGCCCCCCC CGTCCCCCGCGTCCCCCGCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCC CCCGCGTCCCCCGCGTCCCCCGCGTCCCCCGTCCCCCCCGTCCCCCCCGT CCCCCGCGTCCCCCGCGTCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCGT CCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCGTCCCCCCCGTCCCCCCC GTCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCC CCGTCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCGCGTCCCCCCCGTC CCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCG TCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCGCGTCCCCCCCGTCCCC CCCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCCCGT CCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCC CCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCCCGTC CCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCC CGTCCCCCTCATCTCCCACA	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
POLG_chr15_89311320_89339824	89325175	T T	TGAGTGAG others(841): Show TGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTG AGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAG TGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTG AGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAG AGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTG AGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAG TGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTG AGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAG AGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTG AGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAG TGAGAGAGTGAGTGAGTGAGTGAGTGTGAGTGAGTGAGTGAGTGAGTGAG AGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGTGAGTGAGTGAG AGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTG AGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAG AGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTG AGAGTGAGTGAGTGAGTGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAG TGAGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGAGAGTGAGTGA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	398	0.0025	848	c.194 others(865): Show c.1949+274_1949+275insTCACTCACTCTCTCACTCACTCTCTCAC TCTCTCACTCACTCACTCTCACTCACTCACTCTCTCACTCACTCACTCAC TCTCACTCACTCACTCACTCTCACTCACTCTCTCACTCACTCACTCTCTC ACTCACTCTCTCACTCACTCTCTCACTCACTCTCTCACTCACTCACTCTC TCACTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCTCTCACTC ACTCACTCTCTCACTCACTCTCTCACTCACTCACTCTCACTCACTCACTC ACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCACACTC ACTCACTCACTCACTCTCTCACTCACTCACTCACTCTCTCACTCACTCAC TCTCTCACTCACTCTCTCACTCACTCACTCACTCACTCTCTCACTCACTC ACTCTCTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCAC TCACTCTCTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTC ACTCTCTCACTCACTCACTCACTCACTCACTCACTCTCTCACTCACTCAC TCTCTCACTCACTCTCTCACTCACTCACTCACTCACTCACTCTCTCACTC ACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCACTCTC TCACTCACTCACTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTC ACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCTCTCAC TCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCTCTC ACTCACTCTCTCACTCACTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
POLG_chr15_89311320_89339824	89325251	A A	AGAGTGAG others(841): Show AGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTG AGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAG TGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTG AGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAG TGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTG AGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAG AGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTG AGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAG TGAGAGAGTGAGTGAGTGAGTGTGAGTGAGTGAGTGAGTGAGTGAGAGAG TGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGTGAGTGAGTGAG AGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAG AGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAG AGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTG AGAGTGAGTGAGTGAGTGAGAGTGAGTGAGTGAGTGAGAGTGAGTGAGTG AGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAG TGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTG AGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGTGAGTGAGAGAGTGAGT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0063 a0002c0002t0001g0063	1	398	0.0025	848	c.194 others(865): Show c.1949+198_1949+199insACTCACTCTCTCACTCACTCTCACTCAC TCACTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCTCTCACTC ACTCTCTCACTCACTCACTCACTCTCACTCACTCTCTCACTCACTCTCTC ACTCTCTCACTCACTCACTCTCACTCACTCACTCTCACTCACTCACTCAC TCTCACTCACTCACTCACTCTCACTCACTCTCTCACTCACTCACTCTCTC ACTCACTCTCTCACTCACTCTCTCACTCACTCTCTCACTCACTCACTCTC TCACTCACTCACTCACTCACTCTCTCACTCACTCACTCACTCTCTCACTC ACTCACTCTCTCACTCACTCTCTCACTCACTCACTCTCACTCACTCACTC ACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCAC ACTCACTCACTCACTCTCTCACTCACTCACTCACTCTCTCACTCACTCAC TCTCTCACTCACTCTCTCACTCACTCACTCACTCACTCTCTCACTCACTC ACTCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCTCTCACTCAC TCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCTCTCACTCACTC ACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCAC TCTCTCACTCACTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTC ACTCACTCTCTCACTCACTCACTCACTCACTCACTCTCTCACTCACTCAC TCACTCACTCACTCTCTCACTCACTCACTCACTCACTCACTCTCTCACTC ACTCACTCACTCACTCACTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
PRDM16_chr1_3064203_3443621	3260742	A A	ATGATGGT others(841): Show ATGATGGTGATGATAATGATAGTGATGGTGATGATGATGGTGGTGGTGAT GGTGATGGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGG TGATGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGGTGGTGATG ATGGTGATGGTGATGATGGTGGTGGTGATGGTGGTGGTGATGATGGTGAT GGTGATGATGATGGTGGTGGTGATGGTGGTGGTGATGATGGTGATGGTGG TGATGGTGATGGTGGTGATGATGGTGATGGTGATAATGATAGTGGTGATG ATGGTGATGGTGGTGATGATGGTGATAATGATAGTGGTGATGGTGGTGAT GATGGTGATGGTGATGATGGTGATGCTGGTGGTGATGGTGGTGATGATGG TGATGGTGATGATGATGGTGATGGTGGTGATGATGGTGATGGTGATGATG ATGGTGATGGTGGTGGTGGTGATGGTGATGATAATGATAGTGGTGATGAT GGTGATGGTGGTGGTGATGGTGATGGTGATGATGGTGATGGTGATGGTGA TGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGATGGTGATG GTGAAGGTGTTGATGATGGTGATGGTGGTGGTGATGATGATGGTGGTGAT GATGGTGATGGTGGTGATGATGATGGTGATGATGGTGATGGTGATGATGG TGATAATGATAGTGGTGATGATGGTGATGATGATAGTGATGATGATGGTG ATGATGGTGATGGCGGCGATGATGGTGATGATGATGGTGATGGTTGTGAT GATGTTGGTGATGGTGGTGATGATGATGGCATGATGGCAGTGATTCAAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0084 a0001c0002t0084	a0001c0002t0084g0138 a0001c0002t0084g0138	1	210	0.0048	848	c.438 others(867): Show c.438+16610_438+16611insGTGATGATAATGATAGTGATGGTGAT GATGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGATGGTGA TGGTGATGATGGTGGTGGTGATGATGGTGGTGATGATGGTGATGGTGATG ATGGTGATGGTGGTGATGATGGTGATGGTGATGATGGTGGTGGTGATGGT GGTGGTGATGATGGTGATGGTGATGATGATGGTGGTGGTGATGGTGGTGG TGATGATGGTGATGGTGGTGATGGTGATGGTGGTGATGATGGTGATGGTG ATAATGATAGTGGTGATGATGGTGATGGTGGTGATGATGGTGATAATGAT AGTGGTGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGCTGGTGG TGATGGTGGTGATGATGGTGATGGTGATGATGATGGTGATGGTGGTGATG ATGGTGATGGTGATGATGATGGTGATGGTGGTGGTGGTGATGGTGATGAT AATGATAGTGGTGATGATGGTGATGGTGGTGGTGATGGTGATGGTGATGA TGGTGATGGTGATGGTGATGGTGATGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGATGATGGTGATGGTGAAGGTGTTGATGATGGTGATGGTGGTGGT GATGATGATGGTGGTGATGATGGTGATGGTGGTGATGATGATGGTGATGA TGGTGATGGTGATGATGGTGATAATGATAGTGGTGATGATGGTGATGATG ATAGTGATGATGATGGTGATGATGGTGATGGCGGCGATGATGGTGATGAT GATGGTGATGGTTGTGATGATGTTGGTGATGGTGGTGATGATGATGGCAT GATGGCAGTGATTCAAGTGATG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3260742	A A	ATGATGGT others(841): Show ATGATGGTGATGATAATGATAGTGATGGTGATGATGATGGTGGTGGTGAT GGTGATGGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGG TGATGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGGTGGTGATG ATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTGGT GGTGATGATGGTGATGGTGATGATGATGGTGGTGGTGATGATGGTGGTGG TGATGATGGTGATGGTGGTGATGGTGATGGTGGTGATGATGGTGATGGTG ATAATGATAGTGGTGATGATGGTGATGGTGGTGATGATGGTGATAATGAT AGTGGTGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGCTGGTGG TGATGGTGGTGATGATGGTGATGGTGATGATGATGGTGATGGTGGTGATG ATGGTGATGGTGATGATGATGGTGATGGTGGTGGTGGTGATGGTGATGAT AATGATAGTGGTGATGATGGTGATGGTGGTGGTGATGGTGATAGTGATGA TGGTGATGGTGATGGTGGTGGTGGTGATGGTGGTGGTGATGATGGTGATG GTGAAGGTGTTGATGATGGTGATGGTGGTGGTGATGATGATGGTGGTGAT GATGGTGATGGTGGTGATGATGATGGTGATGATGGTGATGGTGATGATGG TGATAATGATAGTGGTGATGATGGTGATGATGATAGTGATGATGATGGTG ATGATGGTGATGGCGGCGATGATGGTGATGATGATGGTGATGGTTGTGAT GATGTTGGTGATGGTGGTGATGATGATGGCATGATGGCAGTGATTCAAG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0041 a0001c0013t0041	a0001c0013t0041g0025 a0001c0013t0041g0025	1	210	0.0048	848	c.438 others(867): Show c.438+16610_438+16611insGTGATGATAATGATAGTGATGGTGAT GATGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGATGGTGA TGGTGATGATGGTGGTGGTGATGATGGTGGTGATGATGGTGATGGTGATG ATGGTGATGGTGGTGATGATGGTGGTGGTGATGATGGTGATGGTGATGAT GGTGATGGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGATGGTGG TGGTGATGATGGTGGTGGTGATGATGGTGATGGTGGTGATGGTGATGGTG GTGATGATGGTGATGGTGATAATGATAGTGGTGATGATGGTGATGGTGGT GATGATGGTGATAATGATAGTGGTGATGGTGGTGATGATGGTGATGGTGA TGATGGTGATGCTGGTGGTGATGGTGGTGATGATGGTGATGGTGATGATG ATGGTGATGGTGGTGATGATGGTGATGGTGATGATGATGGTGATGGTGGT GGTGGTGATGGTGATGATAATGATAGTGGTGATGATGGTGATGGTGGTGG TGATGGTGATAGTGATGATGGTGATGGTGATGGTGGTGGTGGTGATGGTG GTGGTGATGATGGTGATGGTGAAGGTGTTGATGATGGTGATGGTGGTGGT GATGATGATGGTGGTGATGATGGTGATGGTGGTGATGATGATGGTGATGA TGGTGATGGTGATGATGGTGATAATGATAGTGGTGATGATGGTGATGATG ATAGTGATGATGATGGTGATGATGGTGATGGCGGCGATGATGGTGATGAT GATGGTGATGGTTGTGATGATGTTGGTGATGGTGGTGATGATGATGGCAT GATGGCAGTGATTCAAGTGATG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3260742	A A	ATGATGGT others(841): Show ATGATGGTGATGATAATGATAGTGATGGTGATGATGATGGTGGTGGTGAT GGTGATGGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGG TGATGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGGTGGTGATG ATGGTGGTGGTGATGATGGTGATGGTGATGATGGTGGTGGTGATGGTGGT GGTGATGATGGTGATGGTGATGATGATGGTGGTGGTGATGATGGTGGTGG TGATGATGGTGATGGTGGTGATGGTGATGGTGGTGATGATGGTGATGGTG ATAATGATAGTGGTGATGATGGTGATGGTGGTGATGATGGTGATAATGAT AGTGGTGATGGTGGTGATGATGGTGATGGTGATGATGGTGATGCTGGTGG TGATGGTGGTGATGATGGTGATGGTGATGATGATGGTGATGGTGGTGATG ATGGTGATGGTGATGATGATGGTGATGGTGGTGGTGGTGATGGTGATGAT AATGATAGTGGTGATGATGGTGATGGTGGTGGTGATGGTGATAGTGATGA TGGTGATGGTGATGGTGGTGGTGGTGATGGTGGTGGTGATGATGGTGATG GTGAAGGTGTTGATGATGGTGATGGTGGTGGTGATGATGATGGTGGTGAT GATGGTGATGGTGGTGATGATGATGGTGATGATGGTGATGGTGATGATGG TGATAATGATAGTGGTGATGATGGTGATGATGATAGTGATGATGATGGTG ATGATGGTGATGGCGGCGATGATGGTGATGATGATGGTGATGGTTGTGAT GATGTTGGTGATGGTGGTGATGATGATGGCATGATGGCAGTGATTCAAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02965.hp1 HG06807.hp1 others(2): Show HG02258.hp1 HG02965.hp1 HG06807.hp1 NA18906.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0045 a0001c0001t0083 a0001c0004t0007 others(2): Show a0001c0001t0045 a0001c0001t0083 a0001c0004t0007 a0001c0004t0010 a0001c0004t0029	a0001c0001t0045g0024 a0001c0001t0083g0027 a0001c0004t0007g0063 others(2): Show a0001c0001t0045g0024 a0001c0001t0083g0027 a0001c0004t0007g0063 a0001c0004t0010g0034 a0001c0004t0029g0044	5	210	0.0238	848	c.438 others(867): Show c.438+16610_438+16611insGTGATGATAATGATAGTGATGGTGAT GATGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGATGGTGA TGGTGATGATGGTGGTGGTGATGATGGTGGTGATGATGGTGATGGTGATG ATGGTGATGGTGGTGATGATGGTGGTGGTGATGATGGTGATGGTGATGAT GGTGGTGGTGATGGTGGTGGTGATGATGGTGATGGTGATGATGATGGTGG TGGTGATGATGGTGGTGGTGATGATGGTGATGGTGGTGATGGTGATGGTG GTGATGATGGTGATGGTGATAATGATAGTGGTGATGATGGTGATGGTGGT GATGATGGTGATAATGATAGTGGTGATGGTGGTGATGATGGTGATGGTGA TGATGGTGATGCTGGTGGTGATGGTGGTGATGATGGTGATGGTGATGATG ATGGTGATGGTGGTGATGATGGTGATGGTGATGATGATGGTGATGGTGGT GGTGGTGATGGTGATGATAATGATAGTGGTGATGATGGTGATGGTGGTGG TGATGGTGATAGTGATGATGGTGATGGTGATGGTGGTGGTGGTGATGGTG GTGGTGATGATGGTGATGGTGAAGGTGTTGATGATGGTGATGGTGGTGGT GATGATGATGGTGGTGATGATGGTGATGGTGGTGATGATGATGGTGATGA TGGTGATGGTGATGATGGTGATAATGATAGTGGTGATGATGGTGATGATG ATAGTGATGATGATGGTGATGATGGTGATGGCGGCGATGATGGTGATGAT GATGGTGATGGTTGTGATGATGTTGGTGATGGTGGTGATGATGATGGCAT GATGGCAGTGATTCAAGTGATG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar

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