Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RGPD3_chr2_106398406_106473413	106467191	A A	AGAGCGCG others(654): Show AGAGCGCGCCAGGGAGCAGCGCCCGTCGGGAGCCATGACGCCTGAGCCAT CGAGGCCGCCGCCGGGCCGGGTCGAGGCCGCCGCCTCAACAGAGCGCGCC AGGGAGCAGCGCCCGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGCC GCAGGGCCGGGTCGAGGCCGCCGCCTCAACAGAGCGCGCCAGGGAGCAGC GCCCGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGCCGCCGGGCCGG GTCGAGGCCGCCGCCTCCACAGAGCGCGCCAGGGAGCAGCGCCCGTCGGG AGCCATGACGCCTGAGCCATCGAGGCCGCCGCAGGGCCAGGTCGAGGCTG CCGCCGCCTGGCCAGGTCGAGGCCGCCGCCGCCGCCTCAACAGAGCGCGC CAGGTAACAGCGCCGGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGC CGCAGGGCCAGGTCGAGGCCGGCGCCTCAACAGAGCGCGCCAGGGAGCAG CGCCCGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGCCGCAGGGCCA GGTCGAGGCCGGCGCCTCAACAGAGCGCGCCAGGGAGCAGCGCCCGTCGG GAGCCATGACGCCTGAGCCATCGAGGCCGCCGCCGGGCCAGGTCGAGGCC GCCGCCTCAACC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG00741.hp1 others(27): Show HG00642.hp2 HG00735.hp1 HG00741.hp1 HG01109.hp2 HG01257.hp2 HG01261.hp1 HG01358.hp2 HG01515.hp1 HG02145.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02615.hp1 HG02717.hp1 HG02723.hp1 HG02965.hp1 HG02976.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA20129.hp2 NA20752.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0003 a0013 a0028 others(1): Show a0003 a0013 a0028 a0029	a0003c0003 a0003c0063 a0013c0016 others(2): Show a0003c0003 a0003c0063 a0013c0016 a0028c0064 a0029c0062	a0003c0003t0005 a0003c0003t0006 a0003c0003t0036 others(5): Show a0003c0003t0005 a0003c0003t0006 a0003c0003t0036 a0003c0003t0038 a0003c0063t0006 a0013c0016t0010 a0028c0064t0005 a0029c0062t0042	a0003c0003t0005g0188 a0003c0003t0005g0189 a0003c0003t0005g0190 others(26): Show a0003c0003t0005g0188 a0003c0003t0005g0189 a0003c0003t0005g0190 a0003c0003t0005g0191 a0003c0003t0005g0193 a0003c0003t0005g0195 a0003c0003t0005g0203 a0003c0003t0005g0204 a0003c0003t0005g0205 a0003c0003t0006g0004 a0003c0003t0006g0153 a0003c0003t0006g0154 a0003c0003t0006g0192 a0003c0003t0006g0196 a0003c0003t0006g0198 a0003c0003t0006g0199 a0003c0003t0006g0200 a0003c0003t0006g0201 a0003c0003t0006g0202 a0003c0003t0006g0210 a0003c0003t0006g0211 a0003c0003t0036g0186 a0003c0003t0038g0187 a0003c0063t0006g0197 a0013c0016t0010g0207 a0013c0016t0010g0208 a0013c0016t0010g0209 a0028c0064t0005g0194 a0029c0062t0042g0206	30	382	0.0785	661	c.72+ others(676): Show c.72+1025_72+1026insGGTTGAGGCGGCGGCCTCGACCTGGCCCGG CGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCC TGGCGCGCTCTGTTGAGGCGCCGGCCTCGACCTGGCCCTGCGGCGGCCTC GATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTC TGTTGAGGCGCCGGCCTCGACCTGGCCCTGCGGCGGCCTCGATGGCTCAG GCGTCATGGCTCCCGACCGGCGCTGTTACCTGGCGCGCTCTGTTGAGGCG GCGGCGGCGGCCTCGACCTGGCCAGGCGGCGGCAGCCTCGACCTGGCCCT GCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCC CTGGCGCGCTCTGTGGAGGCGGCGGCCTCGACCCGGCCCGGCGGCGGCCT CGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCT CTGTTGAGGCGGCGGCCTCGACCCGGCCCTGCGGCGGCCTCGATGGCTCA GGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGC GGCGGCCTCGACCCGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGG CTCCCGACGGGCGCTGCTCCCTGGCGCGCTC	RGPD3	ENSG00000153165.19	transcript	ENST00000409886.4	protein_coding	1/22			chr2	TogoVar
RGPD3_chr2_106398406_106473413	106467191	A A	AGAGCGCG others(654): Show AGAGCGCGCCAGGGAGCAGCGCCCGTCGGGAGCCATGACGCCTGAGCCAT CGAGGCCGCCGCCGGGCCGGGTCGAGGCCGCCGCCTCAACAGAGCGCGCC AGGGAGCAGCGCCCGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGCC GCAGGGCCGGGTCGAGGCCGCCGCCTCAACAGAGCGCGCCAGGGAGCAGC GCCCGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGCCGCCGGGCCGG GTCGAGGCCGCCGCCTCCACAGAGCGCGCCAGGGAGCAGCGCCCGTCGGG AGCCATGACGCCTGAGCCATCGAGGCCGCCGCAGGGCCAGGTCGAGGCTG CCGCCGCCTGGCCAGGTCGAGGCCGCCGCCGCCGCCTCAACAGAGCGCGC CAGGTAACAGCGCCGGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGC CGCAGGGCCAGGTCGAGGCCGGCGCCTCAACAGAGCGCGCCAGGGAGCAG CGCCCGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGCCGCAGGGCCA GGTCGAGGCCGGCGCCTCAACAGAGCGCGCCAGGGAGCAGCGCCCGTCGG GAGCCATGACGCCTGAGCCATCGAGGCCGCCGCCGGGCCAGGTCGAGGCT GCCGCCTCAACC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG01516.hp1 HG01517.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0184 a0003c0003t0005g0185 a0003c0003t0005g0184 a0003c0003t0005g0185	2	382	0.0052	661	c.72+ others(676): Show c.72+1025_72+1026insGGTTGAGGCGGCAGCCTCGACCTGGCCCGG CGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCC TGGCGCGCTCTGTTGAGGCGCCGGCCTCGACCTGGCCCTGCGGCGGCCTC GATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTC TGTTGAGGCGCCGGCCTCGACCTGGCCCTGCGGCGGCCTCGATGGCTCAG GCGTCATGGCTCCCGACCGGCGCTGTTACCTGGCGCGCTCTGTTGAGGCG GCGGCGGCGGCCTCGACCTGGCCAGGCGGCGGCAGCCTCGACCTGGCCCT GCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCC CTGGCGCGCTCTGTGGAGGCGGCGGCCTCGACCCGGCCCGGCGGCGGCCT CGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCT CTGTTGAGGCGGCGGCCTCGACCCGGCCCTGCGGCGGCCTCGATGGCTCA GGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGC GGCGGCCTCGACCCGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGG CTCCCGACGGGCGCTGCTCCCTGGCGCGCTC	RGPD3	ENSG00000153165.19	transcript	ENST00000409886.4	protein_coding	1/22			chr2	TogoVar
RGPD3_chr2_106398406_106473413	106467200	C C	CAGGGAGC others(654): Show CAGGGAGCAGCGCCCGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGC CGCCGGGCCGGGTCGAGGCCGCCGCCTCAACAGAGCGCGCCAGGGAGCAG CGCCCGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGCCGCAGGGCCG GGTCGAGGCCGCCGCCTCAACAGAGCGCGCCAGGGAGCAGCGCCCGTCGG GAGCCATGACGCCTGAGCCATCGAGGCCGCCGCCGGGCCGGGTCGAGGCC GCCGCCTCCACAGAGCGCGCCAGGGAGCAGCGCCCGTCGGGAGCCATGAC GCCTGAGCCATCGAGGCCGCCGCAGGGCCAGGTCGAGGCTGCCGCCGCCT GGCCAGGTCGAGGCCGCCGCCGCCGCCTCAACAGAGCGCGCCAGGTAACA GCGCCGGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGCCGCAGGGCC AGGTCGAGGCCGGCGCCTCAACAGAGCGCGCCAGGGAGCAGCGCCCGTCG GGAGCCATGACGCCTGAGCCATCGAGGCCGCCGCAGGGCCAGGTCGAGGC CGGCGCCTCAACAGAGCGCGCCAGGGAGCAGCGCCCGTCGGGAGCCATGA CGCCTGAGCCATCGAGGCCGCCGCCGGGCCAGGTCGAGGCCGCCGCCTCA ACCGAGCGCGCT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0183 a0003c0003t0006g0183	1	382	0.0026	661	c.72+ others(676): Show c.72+1016_72+1017insAGCGCGCTCGGTTGAGGCGGCGGCCTCGAC CTGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGC GCTGCTCCCTGGCGCGCTCTGTTGAGGCGCCGGCCTCGACCTGGCCCTGC GGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCT GGCGCGCTCTGTTGAGGCGCCGGCCTCGACCTGGCCCTGCGGCGGCCTCG ATGGCTCAGGCGTCATGGCTCCCGACCGGCGCTGTTACCTGGCGCGCTCT GTTGAGGCGGCGGCGGCGGCCTCGACCTGGCCAGGCGGCGGCAGCCTCGA CCTGGCCCTGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGG CGCTGCTCCCTGGCGCGCTCTGTGGAGGCGGCGGCCTCGACCCGGCCCGG CGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCC TGGCGCGCTCTGTTGAGGCGGCGGCCTCGACCCGGCCCTGCGGCGGCCTC GATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTC TGTTGAGGCGGCGGCCTCGACCCGGCCCGGCGGCGGCCTCGATGGCTCAG GCGTCATGGCTCCCGACGGGCGCTGCTCCCT	RGPD3	ENSG00000153165.19	transcript	ENST00000409886.4	protein_coding	1/22			chr2	TogoVar
RGPD3_chr2_106398406_106473413	106467288	G G	GCCAGGGA others(654): Show GCCAGGGAGCAGCGCCCGTCGGGAGCCATGACGCCTGAGCCATCGAGGCC GCCGCAGGGCCGGGTCGAGGCCGCCGCCTCAACAGAGCGCGCCAGGGAGC AGCGCCCGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGCCGCCGGGC CGGGTCGAGGCCGCCGCCTCCACAGAGCGCGCCAGGGAGCAGCGCCCGTC GGGAGCCATGACGCCTGAGCCATCGAGGCCGCCGCAGGGCCAGGTCGAGG CTGCCGCCGCCTGGCCAGGTCGAGGCCGCCGCCGCCGCCTCAACAGAGCG CGCCAGGTAACAGCGCCGGTCGGGAGCCATGACGCCTGAGCCATCGAGGC CGCCGCAGGGCCAGGTCGAGGCCGGCGCCTCAACAGAGCGCGCCAGGGAG CAGCGCCCGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGCCGCAGGG CCAGGTCGAGGCCGGCGCCTCAACAGAGCGCGCCAGGGAGCAGCGCCCGT CGGGAGCCATGACGCCTGAGCCATCGAGGCCGCCGCCGGGCCAGGTCGAG GCCGCCGCCTCAACCGAGCGCGCCAGGGAGCAGCGCCCGTCGGGAGCCAT GACGCCTGAGCCATCGAGGCCGCCGCCGGGCCGGGTCGAGGCCGCCGCCT CAACAGAGCGCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0221 a0003c0003t0005g0221	1	382	0.0026	661	c.72+ others(674): Show c.72+928_72+929insTGCGCTCTGTTGAGGCGGCGGCCTCGACCCGG CCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTG CTCCCTGGCGCGCTCGGTTGAGGCGGCGGCCTCGACCTGGCCCGGCGGCG GCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCG CGCTCTGTTGAGGCGCCGGCCTCGACCTGGCCCTGCGGCGGCCTCGATGG CTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTG AGGCGCCGGCCTCGACCTGGCCCTGCGGCGGCCTCGATGGCTCAGGCGTC ATGGCTCCCGACCGGCGCTGTTACCTGGCGCGCTCTGTTGAGGCGGCGGC GGCGGCCTCGACCTGGCCAGGCGGCGGCAGCCTCGACCTGGCCCTGCGGC GGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGC GCGCTCTGTGGAGGCGGCGGCCTCGACCCGGCCCGGCGGCGGCCTCGATG GCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTT GAGGCGGCGGCCTCGACCCGGCCCTGCGGCGGCCTCGATGGCTCAGGCGT CATGGCTCCCGACGGGCGCTGCTCCCTGG	RGPD3	ENSG00000153165.19	transcript	ENST00000409886.4	protein_coding	1/22			chr2	TogoVar
RGPD3_chr2_106398406_106473413	106467492	G G	GCCATGAC others(654): Show GCCATGACGCCTGAGCCATCAAGGCCCCCGCAGGGCCAGGTCGAGGCTGC CGCCGCCTGGCCAGGTCGAGGCCGCCGCCGCCGCCTCAACAGAGCGCGCC AGGTAACAGCGCCGGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGCC GCAGGGCCAGGTCGAGGCCGGCGCCTCAACAGAGCGCGCCAGGGAGCAGC GCCCGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGCCGCAGGGCCAG GTCGAGGCCGGCGCCTCAACAGAGCGCGCCAGGGAGCAGCGCCCGTCGGG AGCCATGACGCCTGAGCCATCGAGGCCGCCGCCGGGCCAGGTCGAGGCCG CCGCCTCAACAGAGCGCGCCAGGGAGCAGCGCCCGTCGGGAGCCATGACG CCTGAGCCATCGAGGCCGCCGCCGGGCCGGGTCGAGGCCGCCGCCTCAAC AGAGCGCGCCAGGGAGCAGCGCCCGTCGGGAGCCATGACGCCTGAGCCAT CGAGGCCGCCGCCGGGCCGGGTCGAGGCCGCCGCCTCAACAGAGCATGCC AGGGAGCAGCGCCCGTCGGGAGCCATGATGCCTGAGCCATCAAGGCAGCC GCCGGGCCAGGTCGAGGCCGCCGCCTCCACAGAGCGCGCCAGGGAGCAGC GCCCGTCGGGAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0008 a0004c0004t0008	a0004c0004t0008g0133 a0004c0004t0008g0133	1	382	0.0026	661	c.72+ others(674): Show c.72+724_72+725insTTCCCGACGGGCGCTGCTCCCTGGCGCGCTCT GTGGAGGCGGCGGCCTCGACCTGGCCCGGCGGCTGCCTTGATGGCTCAGG CATCATGGCTCCCGACGGGCGCTGCTCCCTGGCATGCTCTGTTGAGGCGG CGGCCTCGACCCGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCT CCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGAC CCGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGC GCTGCTCCCTGGCGCGCTCTGTTGAGGCGGCGGCCTCGACCTGGCCCGGC GGCGGCCTCGATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCT GGCGCGCTCTGTTGAGGCGCCGGCCTCGACCTGGCCCTGCGGCGGCCTCG ATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCT GTTGAGGCGCCGGCCTCGACCTGGCCCTGCGGCGGCCTCGATGGCTCAGG CGTCATGGCTCCCGACCGGCGCTGTTACCTGGCGCGCTCTGTTGAGGCGG CGGCGGCGGCCTCGACCTGGCCAGGCGGCGGCAGCCTCGACCTGGCCCTG CGGGGGCCTTGATGGCTCAGGCGTCATGG	RGPD3	ENSG00000153165.19	transcript	ENST00000409886.4	protein_coding	1/22			chr2	TogoVar
RPTOR_chr17_80539838_80971368	80665328	T T	TTTCTTTT others(654): Show TTTCTTTTTTCTTTTCTTTTCTTTTCTTTTCATGTCCTTTCCTTTCTTTT CTTTTCATGCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0012 a0001c0009t0012	a0001c0009t0012g0103 a0001c0009t0012g0103	1	196	0.0051	661	c.348 others(680): Show c.348+21521_348+21522insTTTTTTCTTTTCTTTTCTTTTCTTTT CATGTCCTTTCCTTTCTTTTCTTTTCATGCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SCUBE1_chr22_43192280_43348372	43280872	C C	CCCTCCTG others(654): Show CCCTCCTGTCACCTCCCTCCTCAGCCACCCTCCTGTCACCTCCCCCTCAG CCACCCTCCTGTCACCTCCCTCCTCAGCCACCCTCCTGTCACCTCCCTCC TCAGCCACCCTCCTGTCACCTCCCTCCTCAGCCACCCTCCTGTCACCTCC CCCTCAGCCACCCTCCTGTCACCTCCCCCTCAGCCACCCTCCTGTCACCT CCCTCCTCAGCCACCCTCCTGTCACCTCCTCCTCAGCCACCCTCCTGTCA CCTCCTCCTCAGCCACCCTCCTGTCACCTCCTCCTCAGCCACCCTCCTGT CACCTCCTCCTCAGCCACCCTCCTGTCACCTCCTCCTCAGCCACCCTCCT GTCACCTCCCCCTCAGCCACCCTCCTGTCACCTCCCCCTCAGCCACCCTC CTGTCACCTCCCTCCTCAGCCACCCTCCTGTCACCTCCTCCTCAGCCACC CTCCTGTCACCTCCTCCTCAGCCACCCTCCTGTCACCTCCTCCTCAGCCA CCCTCCTGTCACCTCCTCCTCAGCCACCCTCCTGTCACCTCCTCCTCAGC CACCCTCCTGTCACCTCCTCCTCAGCCACCCTCCTGTCACCTCCCTTCTC AGCCACCCTCCTGTCACCTCCTCCTCAGCCACCCTCCTGTCACCTCCCTC TTTGGCCACCCT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0011 a0001c0006t0011	a0001c0006t0011g0198 a0001c0006t0011g0198	1	280	0.0036	661	c.484 others(680): Show c.484+10173_484+10174insAGGGTGGCCAAAGAGGGAGGTGACAG GAGGGTGGCTGAGGAGGAGGTGACAGGAGGGTGGCTGAGAAGGGAGGTGA CAGGAGGGTGGCTGAGGAGGAGGTGACAGGAGGGTGGCTGAGGAGGAGGT GACAGGAGGGTGGCTGAGGAGGAGGTGACAGGAGGGTGGCTGAGGAGGAG GTGACAGGAGGGTGGCTGAGGAGGAGGTGACAGGAGGGTGGCTGAGGAGG AGGTGACAGGAGGGTGGCTGAGGAGGGAGGTGACAGGAGGGTGGCTGAGG GGGAGGTGACAGGAGGGTGGCTGAGGGGGAGGTGACAGGAGGGTGGCTGA GGAGGAGGTGACAGGAGGGTGGCTGAGGAGGAGGTGACAGGAGGGTGGCT GAGGAGGAGGTGACAGGAGGGTGGCTGAGGAGGAGGTGACAGGAGGGTGG CTGAGGAGGAGGTGACAGGAGGGTGGCTGAGGAGGGAGGTGACAGGAGGG TGGCTGAGGGGGAGGTGACAGGAGGGTGGCTGAGGGGGAGGTGACAGGAG GGTGGCTGAGGAGGGAGGTGACAGGAGGGTGGCTGAGGAGGGAGGTGACA GGAGGGTGGCTGAGGAGGGAGGTGACAGGAGGGTGGCTGAGGGGGAGGTG ACAGGAGGGTGGCTGAGGAGGGAGGTGACAGGAGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(654): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTT CCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCCT CCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCC CCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCATCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCCA CCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTC CCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTC CCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	150	0.0067	661	c.77- others(678): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCA CCCCTTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCC CCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTTCCC CCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTC CCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCC CCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCT CCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(654): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTT CCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCCT CCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCCC CCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCATCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCCA CCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTC CCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTC CCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	158	0.0063	661	c.22+ others(678): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCA CCCCTTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCC CCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTTCCC CCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTC CCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCC CCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCT CCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC19A1_chr21_45507565_45547440	45531209	G G	GGGGGAGC others(654): Show GGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGA GCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCC TGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCTGGGGA AGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATC CACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGG GCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGG GGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGCGGG GAGGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGCGGGGAGGGG GAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCT CCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCTGGG GAAGGATCCACGGGGCAGGGGGAGGGTGGCGGGGAGCCTCCGGGGGAAGG ATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCAC GGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCA GGGGGAGGTGGC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0212 a0001c0001t0027g0212	1	318	0.0031	661	c.949 others(676): Show c.949+179_949+180insGCCACCTCCCCCTGCCCCGTGGATCCTTCC CCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGA GGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCC CCGCCACCCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGCC ACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCC CCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCCTCCCCGCCCCCTGC CCCGTGGATCCTTCCCCCGGAGGCTCCCCCTCCCCGCCCCCTGCCCCGTG GATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCT TCCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCC GGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGC TCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCG CCACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGCCACCT CCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCT GCCCCGTGGATCCTTCCCCCGGAGGCTCCCC	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	3/5			chr21	TogoVar
SLC19A1_chr21_45507565_45547440	45531209	G G	GGGGGAGC others(654): Show GGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGA GCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCC TGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCTGGGGA AGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATC CACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGG GCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGG GGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGCGGG GAGGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGCGGGGAGGGG GAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCT CCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCTGGG GAAGGATCCACGGGGCAGGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGG ATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCAC GGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCA GGGGGAGGTGGC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0231 a0001c0001t0003g0231	1	318	0.0031	661	c.949 others(676): Show c.949+179_949+180insGCCACCTCCCCCTGCCCCGTGGATCCTTCC CCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGA GGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCC CCGCCACCTCCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGCC ACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCC CCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCCTCCCCGCCCCCTGC CCCGTGGATCCTTCCCCCGGAGGCTCCCCCTCCCCGCCCCCTGCCCCGTG GATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCT TCCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCC GGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGC TCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCG CCACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGCCACCT CCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCT GCCCCGTGGATCCTTCCCCCGGAGGCTCCCC	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	3/5			chr21	TogoVar
SLC19A1_chr21_45507565_45547440	45531241	A A	AGGGGGAG others(654): Show AGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGG AGGTGGCGGGGAGCCTCCTGGGGAAGGATCCACGGGGCAGGGGGAGGTGG CGGGGAGCCTCCTGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGA GCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCC GGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGA AGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATC CACGGGGCAGGGGGCGGGGAGGGGGAGCCTCCGGGGGAAGGATCCACGGG GCAGGGGGCGGGGAGGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGG GGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGT GGCGGGGAGCCTCCTGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGG GAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCT CCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGG GAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGA TCCACGGGGCAG	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	318	0.0031	661	c.949 others(676): Show c.949+147_949+148insCTGCCCCGTGGATCCTTCCCCCGGAGGCTC CCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCC ACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCC CCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCTGC CCCGTGGATCCTTCCCCAGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTG GATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCT TCCCCCGGAGGCTCCCCCTCCCCGCCCCCTGCCCCGTGGATCCTTCCCCC GGAGGCTCCCCCTCCCCGCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGC TCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCG CCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCT CCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCT GCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGCCACCTCCCCCTGCCCCG TGGATCCTTCCCCAGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATC CTTCCCCCGGAGGCTCCCCGCCACCTCCCCC	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	3/5			chr21	TogoVar
SMIM36_chr17_55444856_55516452	55500919	A A	ATATTATA others(654): Show ATATTATAATATGTAACATATTATTATATTTTGTAATATATAATATATTA TTATATATTATAATATATAATATATTATTATATTTTATAATATATAATAT ACTATTATATTTTATAATATATAATATATATCATATTTTATATTATAATA TATAACATATTTTATATATTATAATATATAACATATATTATATATTATAA TATATAACATATATTATATATTATAATATATAACATATGTTATATATTAT AATATATAATATATGTTATATTTTATAATATATAATATATTATATTTTAT AATATATAATATATTATATTTTATAATATATAATATATTATATTTTATAA TATATAATATATTATATTTTATAATATATAATATATTATATTTTATAATA TATAATATATTATATTTTATAATATATAATATATTATATTTTATAATATA TAATATATTATATTTTATAATATATTATATATTATATTTTATAATATATA ATATATTATATATTATAATATATAATATATTATATATTATAATATATAAT ATATTATATTTTATAATATATATTATATTTTATAATATATATTATATTTT ATAATATATATTATATTTTATAATATATATTATATTTTATAATATATATT ATATTTTATAAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0149 a0001c0001t0010g0149	1	340	0.0029	661	c.17 others(680): Show c.174+9959_*174+9960insATTATAAAATATAATATATATTATAA AATATAATATATATTATAAAATATAATATATATTATAAAATATAATATAT ATTATAAAATATAATATATATTATAAAATATAATATATTATATATTATAA TATATAATATATTATATATTATAATATATAATATATTATATATTATAAAA TATAATATATAATATATTATAAAATATAATATATTATATATTATAAAATA TAATATATTATATATTATAAAATATAATATATTATATATTATAAAATATA ATATATTATATATTATAAAATATAATATATTATATATTATAAAATATAAT ATATTATATATTATAAAATATAATATATTATATATTATAAAATATAATAT ATTATATATTATAAAATATAACATATATTATATATTATAATATATAACAT ATGTTATATATTATAATATATAATATATGTTATATATTATAATATATAAT ATATGTTATATATTATAATATATAAAATATGTTATATATTATAATATAAA ATATGATATATATTATATATTATAAAATATAATAGTATATTATATATTAT AAAATATAATAATATATTATATATTATAATATATAATAATATATTATATA TTACAAAATATAATAATATGTTACATATTATAATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(654): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAG GGTGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGTG AGGGCAGAGGAGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGGGA AGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGAAG GGGGATGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGGGA GGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAGGG GGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGG GAGGGGAGGGGAGGGGGAGGAGGGAGGGGGAGGGAGGGAAGGGGGGAAGG GGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGG AGGAGGGAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGG AGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGG AGGGAGGGGAGGAGGGAGGGGGAGGGGGGAAGGGGGAAGGGGGAGGAGGG AGGGGAGAGGGGAGGGGGGAGGGGGAGAGGGGAGAGGAGGGGGAGGGGGA GGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	661	c.12 others(672): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCC CTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCC CCCCTTCCCCTCCCCTCCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCC TCCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCTCCCTCC CCCTCCCTCCTCCCCCTCCCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCC TCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCTCCCCCT CCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCTC TGCCCTCCCCTCCCCTCTCCCCATCCCCCTTCCCCCTCCCCTCTCCTCTC CTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCCCTC CCTCCTCCCCCTCTCCCTCCTCTGCCCTCACCTCCCTCCTCCCCCTCTCC CCTCCCTGCCCTGCCCTCCCCTCCCACCCTCCCCCCTCCCTTCCCCTTCC TTCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SNTG2_chr2_945849_1372613	965130	A A	ACCCCAAT others(654): Show ACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCT CCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCC CCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCT CCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCC AATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCC TGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGT CCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTG GACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCC TCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCC CCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCT CCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCC AATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCC TGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGT CCTCCTCCTGGT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0012 a0012	a0012c0019 a0012c0019	a0012c0019t0001 a0012c0019t0001	a0012c0019t0001g0122 a0012c0019t0001g0122	1	190	0.0053	661	c.72+ others(678): Show c.72+14136_72+14137insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGG TCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCT CCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGAC CCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCC TCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGG TCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCT CCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACC CCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TBC1D22A_chr22_46757650_47180693	47128216	C C	CCATCCTC others(654): Show CCATCCTCCCTCCACCCCACCCATCCTCCCCTCTGCCCCACCCATCCCCC CTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCT ACCCATCCTCCTCCGCCCCACCCACCCCCCCTCCGCCCCACCCATCCCCC CTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCC ACCCATCCCTCCCTCCGCCCCACCCATCCCTCCTCCCCTCACCCATCCCT CCATCCTCCCTCCACCCCACCCATCCTCCCTCCACCCCACCCATCCTCCC CTCTGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCA CCCATCCCTCCCTCCGCCCTACCCATCCTCCTCCGCCCCACCCACCCCCC CTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCA CCCATCCCTCCCTCCGCCCCACCCATCCCTCCTCCGCCCCACCCACCACC CCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCATCCTCCCT CCACCCCACCCATTCTCCCCTCCACCCCACCCATCCCCCATCCTCCCTCC ACCCCACCCATCCTCCCCTCCACCCCACCCATCCCCCCTTCCCTCACCCA TCCCTCCCTCCG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01433.hp1 HG01884.hp1 others(4): Show HG01361.hp2 HG01433.hp1 HG01884.hp1 HG02027.hp2 HG02622.hp1 HG02735.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0002g0009 others(4): Show a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0002g0009 a0001c0001t0002g0052 a0001c0001t0003g0111 a0001c0001t0004g0067 a0001c0001t0004g0101	7	112	0.0625	661	c.142 others(682): Show c.1425+16614_1425+16615insATCCTCCCTCCACCCCACCCATCC TCCCCTCTGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGC CCCACCCATCCCTCCCTCCGCCCTACCCATCCTCCTCCGCCCCACCCACC CCCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGC CCCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCCACCCA TCCCTCCTCCCCTCACCCATCCCTCCATCCTCCCTCCACCCCACCCATCC TCCCTCCACCCCACCCATCCTCCCCTCTGCCCCACCCATCCCCCCTCCCC TCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCTACCCAT CCTCCTCCGCCCCACCCACCCCCCCTCCGCCCCACCCATCCCCCCTCCCC TCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCCACCCAT CCCTCCTCCGCCCCACCCACCACCCCTCCGCCCCACCCATCCCCCCTCCC CTCACCCATCCCTCCATCCTCCCTCCACCCCACCCATTCTCCCCTCCACC CCACCCATCCCCCATCCTCCCTCCACCCCACCCATCCTCCCCTCCACCCC ACCCATCCCCCCTTCCCTCACCCATCCCTCCCTCCGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TERT_chr5_1248167_1300068	1273438	A A	ACATCAGA others(654): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGA CCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGA CCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCACCATC CACAGTCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAG ACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCTACGACCGCC ATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACA TCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGAC CGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTC ACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGAC CCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCC ACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATC AGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCTACGACCGCC ATCCACAGTCAC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0322 a0001c0003t0001g0322	1	392	0.0026	661	c.228 others(680): Show c.2287-1159_2287-1158insGTGACTGTGGATGGCGGTCGTAGGGT CTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGA TGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTAGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGACTGTGGATGGTGGTCGTGG GGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGG TCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THNSL2_chr2_88165346_88191627	88181086	G G	GAGAGCTA others(654): Show GAGAGCTAGATCAGTCCTCTCTCTCTCTCTCTCTCTCCTCTCTCTCCTCT CTCTCCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCCT CTCTCTCCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCCTCTCTCTCTCTCTCTCCTCTCTCCTCTCTCTCTCTCCT CTCTCTCTCCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCT CCTCTCTCTCTCCTCTCCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCT CTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTC TCTCCTCTCTCTCCTCTCTCTCCCTCTCTCTCTCCTCTCTCTCTCCTCTC TCTCTCCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCCTC TCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCT CTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCC TCTCTCTCTCCTCTCTCTCCTCTCTCTCCCTCTCTCTCTCCTCTCTCTCT CCTCTCTCTCCT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	54	0.0185	661	c.803 others(678): Show c.803-1613_803-1612insAGAGCTAGATCAGTCCTCTCTCTCTCTC TCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCCTCTCTCTCTCCTCTCT CTCTCCTCTCTCCTCTCTCCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCT CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCC TCTCTCCTCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCCTCTCCTCTCTC TCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCT CTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCCTCTCT CTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCT CTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTC TCTCTCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCT CTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCC CTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCT	THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	5/8			chr2	TogoVar
THNSL2_chr2_88165346_88191627	88181115	T T	TCTCTCCT others(654): Show TCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCTCTCTCTC TCTCTCCTCTCTCCTCTCTCCTCTCTCTCCTCCTCTCTCTCCTCTCTCCT CTCTCTCATCTCTCTCCTCTCTCTCTCTCTCTCCTCTCTCTCCTCTCTCC TCTCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCTCT CTCTCTCCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTC TCTCTCTCCTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCT CCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTC TCTCCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCCTC TCCCTCTCTCTCCCTCTCTCTCTCCTCTCTCTCTCCTCTCCTCTCTCTCT CCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTTCCTCTCTCCTCTCTCTCT CCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTC CTCTCTCTCCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCTCTCTCT CTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCCTCTCTCTCTCTC TCCTCTCTCCTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0031 a0001c0001t0012g0031	1	54	0.0185	661	c.803 others(678): Show c.803-1579_803-1578insCTCTCTCTCCTCTCTCTCTCCTCTCTCC TCTCTCTCTCTCTCTCTCTCTCCTCTCTCCTCTCTCCTCTCTCTCCTCCT CTCTCTCCTCTCTCCTCTCTCTCATCTCTCTCCTCTCTCTCTCTCTCTCC TCTCTCTCCTCTCTCCTCTCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTC TCCTCTCTCTCTCTCTCTCTCTCCTCTCTCCTCTCTCTCCTCTCTCTCCT CTCTCTCCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCCTCTC TCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCT CTCTCCTCTCTCTCTCTCTCCTCTCTCCTCTCTCTCTCCTCTCTCTCCTC TCTCTCCTCTCTCCTCTCCCTCTCTCTCCCTCTCTCTCTCCTCTCTCTCT CCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTTCC TCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCT CTCTCCTCTCTCTCTCCTCTCTCTCCTCCTCTCTCTCCTCTCTCTCTCCT CTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTC CTCCTCTCTCTCTCTCTCCTCTCTCCTCCTCTC	THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCC others(654): Show CTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACC CCTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTATCCCCTC CTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCC CTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCC CTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTTCCCCTCCCCCCTCCCTTC CCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCT CTCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCT CCTCCCTTTCCT	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA19066.hp1 HG04204.hp1 NA19066.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0007 a0002c0002 a0006c0007	a0002c0002t0001 a0006c0007t0003 a0002c0002t0001 a0006c0007t0003	a0002c0002t0001g0023 a0006c0007t0003g0061 a0002c0002t0001g0023 a0006c0007t0003g0061	2	114	0.0175	661	c.-25 others(680): Show c.-25-12098_-25-12097insTCCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACCC CTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTATCCCCTCC TCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCCC TCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCC TCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCC TCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCC TCTCCCCTCCCCCCTCCCCTCCCCTCCCCTTCCCCTCCCCCCTCCCTTCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTC TCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTC CTCCCTTTCCTTCTCCCCTCCCCTCTCCCCTCCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCC others(654): Show CTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACC CCTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTATCCCCTC CTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCC CTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCC CTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTTCCCCTCCCCCCTCCCTTC CCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCCTCCCCTCCCGTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCT CTCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCT CCTCCCTTTCCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0033 a0002c0002t0001g0033	1	114	0.0088	661	c.-25 others(680): Show c.-25-12098_-25-12097insTCCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACCC CTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTATCCCCTCC TCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCCC TCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCC TCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCC TCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCC TCTCCCCTCCCCCCTCCCCTCCCCTCCCCTTCCCCTCCCCCCTCCCTTCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCCTCCCCTCCCGTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTC TCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTC CTCCCTTTCCTTCTCCCCTCCCCTCTCCCCTCCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TOP1MT_chr8_143304324_143339880	143321813	A A	ACACGCAC others(654): Show ACACGCACGCTACACACACACGCCACACACACGCCACACACACAGGCACG CCACACACACACAGGCACGCCACACGCACGCCACACACGCATGCCACACA CACGCATGCCACACACGCATGCCACACACAGCCACGCCACACACACACGC CACACACACACAGGCACGCCACACACGCACGCCACACACACGCATGCCAC ACACACGCCACACACACAGGCACGCCACACACAGGCACGCCACACACGCA CGCCACACACGCACGCCACACACGCACGCCACACACAGGCACGCCACACA CGCACGCCACACACACGCACGCCACACACACACGCACGCCACACACACGC ACGCCACAAACGCACGCCACACACGCACGCCACACACGCACGCCAGCCAC ACACGCACGCCACACACGAACGCCACACAAACGCCACACACACGAATGCC ACACGCACACCACACACGCACGCCACACACGCACGCCACACACGCACGCC ACACACAGGCATGCCACACACATGCACGCCACACACAGGCACGCCACACA CGCACGCCACACACAGGCATGCCAAACACGCACGCCACACATGCATGCCA CACACACAGGCACACCACACACAGGCACGCCACACACACAGGCACGCCAC ACACATGCACGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp1 HG02055.hp1 HG00099.hp2 HG00738.hp1 HG02055.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0015 a0001c0001 a0011c0015	a0001c0001t0001 a0011c0015t0001 a0001c0001t0001 a0011c0015t0001	a0001c0001t0001g0130 a0011c0015t0001g0133 a0011c0015t0001g0134 a0001c0001t0001g0130 a0011c0015t0001g0133 a0011c0015t0001g0134	3	430	0.0070	661	c.961 others(676): Show c.961-428_961-427insGCGTGCATGTGTGTGGCGTGCCTGTGTGTG TGGCGTGCCTGTGTGTGGTGTGCCTGTGTGTGTGGCATGCATGTGTGGCG TGCGTGTTTGGCATGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGT GTGGCGTGCATGTGTGTGGCATGCCTGTGTGTGGCGTGCGTGTGTGGCGT GCGTGTGTGGCGTGCGTGTGTGGTGTGCGTGTGGCATTCGTGTGTGTGGC GTTTGTGTGGCGTTCGTGTGTGGCGTGCGTGTGTGGCTGGCGTGCGTGTG TGGCGTGCGTGTGTGGCGTGCGTTTGTGGCGTGCGTGTGTGTGGCGTGCG TGTGTGTGTGGCGTGCGTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGT GTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCCT GTGTGTGGCGTGCCTGTGTGTGTGGCGTGTGTGTGGCATGCGTGTGTGTG GCGTGCGTGTGTGGCGTGCCTGTGTGTGTGTGGCGTGTGTGTGTGGCGTG GCTGTGTGTGGCATGCGTGTGTGGCATGCGTGTGTGTGGCATGCGTGTGT GGCGTGCGTGTGGCGTGCCTGTGTGTGTGTGGCGTGCCTGTGTGTGTGGC GTGTGTGTGGCGTGTGTGTGTAGCGTGCGTG	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13			chr8	TogoVar
TOP1MT_chr8_143304324_143339880	143321834	A A	ACACGCCA others(654): Show ACACGCCACACACACGCCACACACACAGGCACGCCACACACACACAGGCA CGCCACACGCACGCCACACACGCATGCCACACACACGCACGCCACACACG CATGCCACACACAGCCACGCCACACACACACGCCACACACACACAGGCAC GCCACACACGCACGCCACACACACGCATGCCACACACACGCCACACACAC AGGCACGCCACACACAGGCACGCCACACACGCACGCCACACACGCACGCC ACACACGCACGCCACACACGCACGCCACACACAGGCACGCCACACACGCA CGCCACACACACGCACGCCACACACACACGCACGCCACACACACACGCAC GCCACAAACGCACGCCACACACGCACGCCACACACGCACGCCAGCCACAC ACGCACGCCACACACGAACGCCACACAAACGCCACACACACGAATGCCAC ACGCACACCACACACGCACGCCACACACGCACGCCACACACGCACGCCAC ACACAGGCATGCCACACACATGCACGCCACACACAGGCACGCCACACACG CACGCCACACACAGGCATGCCAAACACGCACGCCACACATGCATGCCACA CACACAGGCACACCACACACAGGCACGCCACACACATGCACGCCACACAC GCACGCCACACG	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0348 a0001c0001t0001g0348	1	430	0.0023	661	c.961 others(676): Show c.961-449_961-448insCGTGTGGCGTGCGTGTGTGGCGTGCATGTG TGTGGCGTGCCTGTGTGTGGTGTGCCTGTGTGTGTGGCATGCATGTGTGG CGTGCGTGTTTGGCATGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGT GTGTGGCGTGCATGTGTGTGGCATGCCTGTGTGTGGCGTGCGTGTGTGGC GTGCGTGTGTGGCGTGCGTGTGTGGTGTGCGTGTGGCATTCGTGTGTGTG GCGTTTGTGTGGCGTTCGTGTGTGGCGTGCGTGTGTGGCTGGCGTGCGTG TGTGGCGTGCGTGTGTGGCGTGCGTTTGTGGCGTGCGTGTGTGTGTGGCG TGCGTGTGTGTGTGGCGTGCGTGTGTGTGGCGTGCGTGTGTGGCGTGCCT GTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGT GCGTGTGTGGCGTGCCTGTGTGTGGCGTGCCTGTGTGTGTGGCGTGTGTG TGGCATGCGTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGTGTGG CGTGTGTGTGTGGCGTGGCTGTGTGTGGCATGCGTGTGTGGCGTGCGTGT GTGTGGCATGCGTGTGTGGCGTGCGTGTGGCGTGCCTGTGTGTGTGTGGC GTGCCTGTGTGTGTGGCGTGTGTGTGGCGTG	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13			chr8	TogoVar
TOP1MT_chr8_143304324_143339880	143321834	A A	ACACGCCA others(654): Show ACACGCCACACACACGCCACACACACAGGCACGCCACACACACACAGGCA CGCCACACGCACGCCACACACGCATGCCACACACACGCACGCCACACACG CATGCCACACACAGCCACGCCACACACACACGCCACACACACACAGGCAC GCCACACACGCACGCCACACACACGCATGCCACACACACGCCACACACAC AGGCACGCCACACACAGGCACGCCACACACGCACGCCACACACGCACGCC ACACACGCACGCCACACACGCACGCCACACACGCACGCCACACACACGCA CGCCACACACACGCACGCCACACACACACGCACGCCACAAACGCACGCCA CACACGCACGCCACACACGCACGCCAGCCACACACGCACGCCACACACGA ACGCCACACAAACGCCACACACACGAATGCCACACGCACACCACACACGC ACGCCACACACGCACGCCACACACGCACGCCACACACAGGCATGCCACAC ACATGCACGCCACACACAGGCACGCCACACACGCACGCCACACACAGGCA TGCCAAACACGCACGCCACACATGCATGCCACACACACAGGCACACCACA CACAGGCACGCCACACACACAGGCACGCCACACACATGCACGCCACACAC GCACGCCACACG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0362 a0001c0001t0001g0362	1	430	0.0023	661	c.961 others(676): Show c.961-449_961-448insCGTGTGGCGTGCGTGTGTGGCGTGCATGTG TGTGGCGTGCCTGTGTGTGTGGCGTGCCTGTGTGTGGTGTGCCTGTGTGT GTGGCATGCATGTGTGGCGTGCGTGTTTGGCATGCCTGTGTGTGGCGTGC GTGTGTGGCGTGCCTGTGTGTGGCGTGCATGTGTGTGGCATGCCTGTGTG TGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGTGTGCGTG TGGCATTCGTGTGTGTGGCGTTTGTGTGGCGTTCGTGTGTGGCGTGCGTG TGTGGCTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCGTTTGTGGCG TGCGTGTGTGTGTGGCGTGCGTGTGTGTGGCGTGCGTGTGTGTGGCGTGC GTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGT GCGTGTGTGGCGTGCCTGTGTGTGGCGTGCCTGTGTGTGTGGCGTGTGTG TGGCATGCGTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGTGTGG CGTGTGTGTGTGGCGTGGCTGTGTGTGGCATGCGTGTGTGGCGTGCGTGT GTGTGGCATGCGTGTGTGGCGTGCGTGTGGCGTGCCTGTGTGTGTGTGGC GTGCCTGTGTGTGTGGCGTGTGTGTGGCGTG	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13			chr8	TogoVar
TTLL8_chr22_50013575_50063298	50028634	C C	CCTCGTAA others(654): Show CCTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACACACACTCGT AAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACC CCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCAC ACCATCCTGAAGACCCCCACACACACTCGTAAAGACCCCCATCACACCGT CCTGAAGACCCCACACACACTCGTAAAGACCCCCGTCATACCATCCTGAA GACCCCACACACCCTCGTAAAGACCCCCATCATACCATCCTAAAGACCCC CACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCACACATA CCCTCGTAAAGACCCCATCACACCATCCTAAAGACCCCCACACACACTCG TAAAGACCCCATCACACCATCCTGAAGACCCCCACACACACTCGTAAAGA CCCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCCCA TCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCCCGTCATAC CATCCTAAAGACCCCCACACACACTCGTAAAGACCCCATCACACCGTCCT GAAGACCCCCACATACCCTCGTAAAGACCCCCATCACACCATCCTGAAGA CCCCCACACACA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA19000.hp1 NA18945.hp2 NA19000.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0090 a0003c0003t0001g0092 a0003c0003t0001g0090 a0003c0003t0001g0092	2	224	0.0089	661	c.225 others(680): Show c.2251+1795_2251+1796insTGTGTGTGGGGGTCTTCAGGATGGTG TGATGGGGGTCTTTACGAGGGTATGTGGGGGTCTTCAGGACGGTGTGATG GGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGATGGTATGACGGGGGTC TTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACG AGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAGTGTG TGTGGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGG GGTCTTTAGGATGGTGTGATGGGGTCTTTACGAGGGTATGTGTGGGTCTT CAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGAT GGTATGATGGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTATG ACGGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGG GTCTTTACGAGTGTGTGTGGGGGTCTTCAGGATGGTGTGATGGGGTCTTT ACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTG TGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGG GGTCTTCAGGACGGTGTGATGGGGGTCTTTACGAG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
ULK1_chr12_131889622_131928150	131917102	G G	GTTGGGGG others(654): Show GTTGGGGGGAGCTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGATGG GGGTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGA TGGGGCTCGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCG GAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGT GGGACGGGGGTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGC TGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGAT GGGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCG GAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTG GGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCT GTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATG GGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGG AGGCTGTGGGATGGGGCTCGAGGCTGTGGGACGGGGGTCGGGTTCGGCTC GGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGG GTCGGGTTCGGC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0216 a0002c0004t0004g0216	1	344	0.0029	661	c.218 others(676): Show c.2182+41_2182+42insTGGGGGGAGCTCGGAGGCTGTGGGATGGGG CTCGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTTC GGCTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGATGGGGGTCGGAG GCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGG ATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGGGGT CGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGG GCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGGAG GCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGG ATGGGGCTCGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGG CTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGG CTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGAC GGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTC GGAGGCTGTGGGATGGGGGTCGGGTTCGGCT	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917219	C C	CGGAGGCT others(654): Show CGGAGGCTGTGGGATGGGGGTTGGAGGCTGTGGGATGGGGGTCGGGTGGG GCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGAT GGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTC GGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAG GCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCG GGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTG TGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGC TCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGC TGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGA GGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTC GGGTGGGGCTCA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0175 a0002c0004t0003g0175	1	344	0.0029	661	c.218 others(678): Show c.2182+158_2182+159insGAGGCTGTGGGATGGGGGTTGGAGGCTG TGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTG GGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGG ACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGC TCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGG GGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGG AGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGT CGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGC TGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCT GTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGACG GGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCG GAGGCTGTGGGATGGGGGTCGGGTGGGGCTCAG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
VAMP2_chr17_8154149_8167948	8166152	G G	GGCGCAGT others(654): Show GGCGCAGTGGTTCAGGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCGG GTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAA CCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCA CCTATAGTCCCAGCTACTCGGGAGGCTGAGGCTGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCAGTGAGCAGAGATCGCACCACTGCACTCCAGCC TGGGCTACAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAGAAAAAAG AAAGAAAGGAGCTGGGTCGTTCCCACACTGACTCATGAACTTGCTTCATC CACATGAATCAAACCTGACTGAACTTATAATTAATTTCAGAGGCCTGTGT GTCCCTCAGTGCAGCTTGTGAAGTAAAGGCCTTCTAATGAGTAATAGAAA GGTCAGCCCTCCACCATTGCAATCAGCTGTGACGTCTGGTGAACCCTCCA GGCCACAAGGTTCTCAGAGCTGCCTGTCCAGCTCTGGGCTCCTGGAAGGA GGGGACACTCCAGGGACCCACTGTGTGCCAGACAGTTGGCATGGATTGCC ACATGTGCTCAATTTGTTTTTATTTTTACTTATTTTTGAGACGAAGTCTC ACTCTTTCGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02965.hp2 HG03579.hp2 others(1): Show HG02717.hp1 HG02965.hp2 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0026 a0001c0001t0015 a0001c0001t0026	a0001c0001t0015g0036 a0001c0001t0026g0029 a0001c0001t0015g0036 a0001c0001t0026g0029	4	414	0.0097	661	c.-32 others(672): Show c.-3274_-3273insTGGCGAAAGAGTGAGACTTCGTCTCAAAAATAAG TAAAAATAAAAACAAATTGAGCACATGTGGCAATCCATGCCAACTGTCTG GCACACAGTGGGTCCCTGGAGTGTCCCCTCCTTCCAGGAGCCCAGAGCTG GACAGGCAGCTCTGAGAACCTTGTGGCCTGGAGGGTTCACCAGACGTCAC AGCTGATTGCAATGGTGGAGGGCTGACCTTTCTATTACTCATTAGAAGGC CTTTACTTCACAAGCTGCACTGAGGGACACACAGGCCTCTGAAATTAATT ATAAGTTCAGTCAGGTTTGATTCATGTGGATGAAGCAAGTTCATGAGTCA GTGTGGGAACGACCCAGCTCCTTTCTTTCTTTTTTCTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCTCTGTAGCCCAGGCTGGAGTGCAGTGGTGCGAT CTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCAGCCT CAGCCTCCCGAGTAGCTGGGACTATAGGTGCCCGCCACCACGCCCAGCTA ATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATG GTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCCGCCTCCCAAAGTGC TGGGATTACAGGCCTGAACCACTGCGC	VAMP2	ENSG00000220205.10	transcript	ENST00000316509.11	protein_coding		3205		chr17	TogoVar
VAMP2_chr17_8154149_8167948	8166152	G G	GGCGCAGT others(654): Show GGCGCAGTGGTTCAGGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCGG GTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAA CCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCA CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCTGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCAGTGAGCAGAGATCGCACCACTGCACTCCAGCC TGGGCTACAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAG AAAGAAAGGAGCTGGGTCGTTCCCACACTGACTCATGAACTTGCTTCATC CACATGAATCAAACCTGACTGAACTTATAATTAATTTCAGAGGCCTGTGT GTCCCTCAGTGCAGCTTGTGAAGTAAAGGCCTTCTAATGAGTAATAGAAA GGTCAGCCCTCCACCATTGCAATCAGCTGTGACGTCTGGTGAACCCTCCA GGCCACAAGGTTCTCAGAGCTGCCTGTCCAGCTCTGGGCTCCTGGAAGGA GGGGACACTCCAGGGACCCACTGTGTGCCAGACAGTTGGCATGGATTGCC ACATGTGCTCAATTTGTTTTTATTTTTACTTATTTTTGAGACGAAGTCTC ACTCTTTCGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 NA18941.hp1 NA18959.hp1 others(3): Show HG02004.hp2 NA18941.hp1 NA18959.hp1 NA18986.hp1 NA19009.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 others(1): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0034	a0001c0001t0004g0004 a0001c0001t0008g0011 a0001c0001t0010g0010 others(1): Show a0001c0001t0004g0004 a0001c0001t0008g0011 a0001c0001t0010g0010 a0001c0001t0034g0041	6	414	0.0145	661	c.-32 others(672): Show c.-3274_-3273insTGGCGAAAGAGTGAGACTTCGTCTCAAAAATAAG TAAAAATAAAAACAAATTGAGCACATGTGGCAATCCATGCCAACTGTCTG GCACACAGTGGGTCCCTGGAGTGTCCCCTCCTTCCAGGAGCCCAGAGCTG GACAGGCAGCTCTGAGAACCTTGTGGCCTGGAGGGTTCACCAGACGTCAC AGCTGATTGCAATGGTGGAGGGCTGACCTTTCTATTACTCATTAGAAGGC CTTTACTTCACAAGCTGCACTGAGGGACACACAGGCCTCTGAAATTAATT ATAAGTTCAGTCAGGTTTGATTCATGTGGATGAAGCAAGTTCATGAGTCA GTGTGGGAACGACCCAGCTCCTTTCTTTCTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCTCTGTAGCCCAGGCTGGAGTGCAGTGGTGCGAT CTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCAGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCAGCTA ATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCAGGATG GTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCCGCCTCCCAAAGTGC TGGGATTACAGGCCTGAACCACTGCGC	VAMP2	ENSG00000220205.10	transcript	ENST00000316509.11	protein_coding		3205		chr17	TogoVar
YBEY_chr21_46281342_46302751	46292824	G G	GTGCCCGG others(654): Show GTGCCCGGAAGTGAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCC ACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGAAGTGAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCTGGAGTCAGCCACGCAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGTCAGCCACGCAAGTTA AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGT GAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCTTGGT TAGCCTGACCCA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0379 a0001c0001t0001g0379	1	404	0.0025	661	c.339 others(678): Show c.339+1369_339+1370insAAGTGAGTGGAGTCAGCCACGCAAGTTA GACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCTGGAGTCAGCCACGCAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGAAGTGAGTGGAGTCAGCCACGCAAGTTAAACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCTGGAG TCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGTC AGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGAAGTGAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTA AATTCCTCCTTGGTTAGCCTGACCCATGCCCGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293000	A A	ACAAGTTA others(654): Show ACAAGTTAGACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATGCC CGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCT CCTTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAA GTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATGCCCGGG ACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCG CGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTT AGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCCGGAC TCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCGTGCCCGGGACTGAGTGGGGACAGCCACACAAGTTAA ACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTG AGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCTTGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACT CTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTG GAGTCAGCCACG	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0169 a0001c0001t0003g0169	1	404	0.0025	661	c.339 others(678): Show c.339+1545_339+1546insGACTCTAGATTAAATTCCTCCTTGGTTA GCCTGACCCATGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTC TAGATTAAATTCCTCCTTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG GGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCT GACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGT CAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCCGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTGAGTGGGGACA GCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CGTGCCCGGGACTGAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAA ATTCCTCCTTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCC ACACAAGTTAGACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATG CCCGGGACTCAGTGGAGTCAGCCACGCAAGTTA	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293584	T T	TCAGCCAC others(654): Show TCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTC AGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAG CCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTCCT CCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACA AGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCG GGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCC CGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAG TTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGG ACTCAGTGGGGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	404	0.0025	661	c.339 others(678): Show c.339+2137_339+2138insAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGG AGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAG ATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGC CACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAAT TCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCA CGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTG CCCGGGACTCAGTGGGGACAGCCACGCAAGTTA	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294250	T T	TCAGCCAC others(654): Show TCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCATGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGAC AGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAG CCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTCCT CCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACA AGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCG GGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCC CGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAG TTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGG ACTCAGTGGGGA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	404	0.0025	661	c.340 others(678): Show c.340-1859_340-1858insATGCCCGGGACTCAGTGGGGACAGCCAC ACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGC CCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGC AAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAA GTTAAACTCTAGATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTC AGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGT TAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGAC TCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAG TGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTA GCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTC TAGATTAAATTCCTCCCGCGGTTAGCCTGACCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZFPM1_chr16_88448280_88542031	88501081	G G	GGGCCCTC others(654): Show GGGCCCTCCCGCCAGTGCTGGTGATGATGGAGATAGCAGACATGGGTGCG GGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCGGTCATGGGTGCG TGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTGC GTGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGTG CATGGGCTCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATGGGT GCGGGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCGGTCATGGG TGCGTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGTGGGCCTGG GTGCGGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACATG GGTGCGGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACAT GGGTGCGTGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACA TGGGTGCGGGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGAC ATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTGATGATGGAGATAGCAGA CATGGGTGCGTGGGCCCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAG ACATGGGTGCGT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0010 a0001c0029t0010	a0001c0029t0010g0139 a0001c0029t0010g0139	1	318	0.0031	661	c.268 others(680): Show c.268+11930_268+11931insCCCTCCCGCCAGTGCTGGTGATGATG GAGATAGCAGACATGGGTGCGGGGCCATCCCGCAGGTGCTGGTGATGATG GAGATAGCGGTCATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTGATGAT GGAGATAGCAGACATGGGTGCGTGGGCCCTCCCGCAGGTGCTGGTGATGA TGGAGATAGCAGACATGGGTGCATGGGCTCTCCCGCAGGTGCTGGTGATG ATGGAGATAGCAGACATGGGTGCGGGGGCCATCCCGCAGGTGCTGGTGAT GATGGAGATAGCGGTCATGGGTGCGTGGGCCATCCCGCAGGTGCTGGTGA TGATGGAGATAGTGGGCCTGGGTGCGGGGGCCCTCCCGCAGGTGCTGGTG ATGATGGAGATAGCAGACATGGGTGCGGGGGCCCTCCCGCAGGTGCTGGT GATGATGGAGATAGCAGACATGGGTGCGTGGGCCCTCCCGCAGGTGCTGG TGATGATGGAGATAGCAGACATGGGTGCGGGGGCCCTCCCGCAGGTGCTG GTGATGATGGAGATAGCAGACATGGGTGCGTGGGCCATCCCGCAGGTGCT GGTGATGATGGAGATAGCAGACATGGGTGCGTGGGCCCTCCCGCAGGTGC TGGTGATGATGGAGATAGCAGACATGGGTGCGTGG	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(654): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGGAGGGAGGGAAGGGAAGGGAGGGGAGGGAAGGGGAGGGAGGG GAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAG GGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGG AGGGAAGGCAGGGAGGGGAGGGGAGGGAGGGAGGGGAGGGAGGGAGGGAA GTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGCGAGGGAGGGAAGGCAGG GAGGGGAGGGGAGGGAGGGAGGGGAGGGAGGGGAGGGAGGGAAGGGGAGG GAGGGGAGGGAAGGGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGG GAGGGAGGGAAGGCAGGGAGGGGAGGGAGGGAGGGAAGGGAGGGGAGGGA GGGAGGGAAGTGAAGGAAAGGGAAAGAGGGAGGGAGGGAAGGGAAGGGAA GGGAAGGGAGGGGAGGGTGGGGAGGGTGGGATGAAGGAAATGGAAAGAAA GGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG06807.hp2 HG02717.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0002 a0001c0002t0001 a0001c0004t0002	a0001c0002t0001g0192 a0001c0004t0002g0073 a0001c0002t0001g0192 a0001c0004t0002g0073	2	290	0.0069	661	c.205 others(680): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTC CCTCCCCTCCCTCCCCTCCCTCCCTCCCCTCCCCTCCCTGCCTTCCCTCC CTCGCTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCT CCCCTCCCTCCCTCCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTC ACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCC CTTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTCCCTCCCCTT CCCTCCCCTCCCTTCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCCCTC CCCTCCCTTCCCTGCCTACCTCCCTCCCCTCCCTTCCCTTCCCTCACTCC CTCCCTCCTCTCCCTTCCCTTTCCTCCCTCCCTCCTTCCTCTCACTTCCC TTTTCTCCCTCCCTCCCTCCCCTCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(654): Show CCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTC CCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTT CCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCT CCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCC CCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCC TCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACCCTCCTCC CTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCCCTCC CCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCCCCTCCCC TCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCCCTTCCCCTCCCCTC CCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCCCCTC CCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCTCCTCCCCTCCTC CCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCTACTC CCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTCTCC CCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01261.hp2 HG01346.hp1 others(4): Show HG00738.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG03491.hp1 HG03492.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0230 a0001c0001t0001g0253 others(4): Show a0001c0001t0001g0210 a0001c0001t0001g0230 a0001c0001t0001g0253 a0001c0001t0001g0278 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284	7	322	0.0217	661	c.4-1 others(674): Show c.4-1376_4-1375insCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTC CTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCC TCCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTT CCTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCC CCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCCT CCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCC TACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCT CCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCT CTCCCCTCCCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCCCTT CCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCC CCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCTC CTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCT CCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCC CTCCCCTCTCCCCTTCCCCCTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(654): Show GTATATATACATGTATATATATACAAGTATATATATACTTGTATATATAT ATACAAGTATATATATACTTGTATACATATATACTATATATATACATATA TACACATATATACGTATATATATGTATATATACATATATACGTGTATATA CGTATATACATGTATATACGTATATATACACATATATACATGTATATATA CGTATATATACACATATATACGTGTATATATACGTATATATACACATATA TACGTGTATATATACATGTATATATACACATATATACATGTATATATATA CGTATATATACATGTATATATACGTACGTATATATACATGTATATATACG TACGTATATATATACGTATATATACATGTATATATACGTACGTATATATA TACGTATATATACACATATATACATATATACGTATATATATATACGTATA TATACATATATACGTATATATATACGTATATATACATATATACGTATATA TATACGTATATATACATATATACGTATATATATATACGTATATATACATA TATACATGTATATATATATACGTATATATACATATATACATGTATATATA TACGTATATACACATATATATACATGTATATATATGTGTATATATACATG TATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	383	0.0026	661	c.-42 others(672): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA TACTTGTATATATATATACAAGTATATATATACTTGTATACATATATACT ATATATATACATATATACACATATATACGTATATATATGTATATATACAT ATATACGTGTATATACGTATATACATGTATATACGTATATATACACATAT ATACATGTATATATACGTATATATACACATATATACGTGTATATATACGT ATATATACACATATATACGTGTATATATACATGTATATATACACATATAT ACATGTATATATATACGTATATATACATGTATATATACGTACGTATATAT ACATGTATATATACGTACGTATATATATACGTATATATACATGTATATAT ACGTACGTATATATATACGTATATATACACATATATACATATATACGTAT ATATATATACGTATATATACATATATACGTATATATATACGTATATATAC ATATATACGTATATATATACGTATATATACATATATACGTATATATATAT ACGTATATATACATATATACATGTATATATATATACGTATATATACATAT ATACATGTATATATATACGTATATACACATATATATACATGTATATATAT GTGTATATATACATGTATATATACACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ACSF3_chr16_89088852_89161233	89137483	A A	AGATTGAG others(655): Show AGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCACG GGGAAAGATTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGC TCACGGGGAAAGATTGAGGGGAAGAGCCCTAGGTCTCGGGAGGACCACCA GGAGCTTGTGGGGAACGAGTGAGGGGAAGAGCCCCGGGTCCCGGGGAGGA CCACCAGGAGCTCAAGGGGAAGGACTGAGGGGAAGAGCCCCGGGTCCCGG GGAGGACCACCAGGAGCTCAAGGGGAAGGATTGAGGGGAAGAGCCCCAGG TCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCC CCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAA GAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAG GGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTTGTGGGGAAGGA CTGAGGGGAAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTCATGGGG AAGGATTGAGGGGAAGAGCCCCGGGTCTCGGGAGGACCACCAGGAGCTCA CGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGA GCTCACGGGGAAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0035 a0005c0017t0035	a0005c0017t0035g0359 a0005c0017t0035g0359	1	368	0.0027	662	c.136 others(681): Show c.1366+4322_1366+4323insACGGGGAAAGATTGAGGGGAAGAGCC CTAGGTCTCGGGAGGACCACCAGGAGCTTGTGGGGAACGAGTGAGGGGAA GAGCCCCGGGTCCCGGGGAGGACCACCAGGAGCTCAAGGGGAAGGACTGA GGGGAAGAGCCCCGGGTCCCGGGGAGGACCACCAGGAGCTCAAGGGGAAG GATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCTCACGG GGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAGGAGCT CACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACCACCAG GAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAGGACC ACCAGGAGCTTGTGGGGAAGGACTGAGGGGAAGAGCCCCAGGTCTCGGGA GGACCACCAGGAGCTCATGGGGAAGGATTGAGGGGAAGAGCCCCGGGTCT CGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCA GGTCCCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAG CCCCAGGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAAGATTGAGGGG AAGAGCCCCAGGTCTCGGGAGGACCACCAGGAGCTC	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(655): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATAT CATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTAT ATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATAT TTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTT ATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	418	0.0048	662	c.-10 others(673): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATT TTTATATATGATATATATAAATTTTTATATATGATATATAAATATAAATT TTTATATATGATATATAAATATAAATTTTTATATATGATATATAAATATA AATTTTTATATATGATATATAAATATAAATTTTTATATATGATATATAAA TATAAATTTTTATATATGATATATAAATATAAATTTTTATATGATATATA AATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATA TATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATTTAT GATATATAAATATAAATTTTTATTTATGATATATAAATATAAATTTTTAT ATATTTATGATATATAAATATAAATTTTTATATATTTATATTTATGATAT ATAAATATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(655): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGATG GGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAA AGGAGGGATGGGAGGGTGGGAGAGAAGGAAAGGAGGGATGGGAGGGAGGG AGGGAAGGAAAGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAG GGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGA GGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGG ATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGATG GGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAA AGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGG AGGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGATGGGAGGGAGGGAG GGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGAGATGGG AGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGGAGGGATG GGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAGGAAAGGA GGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0008 a0001c0039t0008	a0001c0039t0008g0192 a0001c0039t0008g0192	1	228	0.0044	662	c.259 others(683): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCTTTCCTTCTCTCCCACCCTCCCATCCCTCCTT TCCTTCCCACCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCATCTCTCC TTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTC CCATCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCCTCCCTCCCTCCC ATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTC CCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCT CCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCC TCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCTTTCCTTCCCTCCCTCCCTCCC ATCCCTCCTTTCCTTCTCTCCCACCCTCCCATCCCTCCTTTCCTTCCCTC CCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCTTTCCT TCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADARB2_chr10_1172313_1742525	1464441	T T	TGAGCCGG others(655): Show TGAGCCGGAGAAGAGGGTGGACACACACTCCCCCACACACGCGCTGGGGA CAGTCACAGCGGGCAGTGCGCCAGAGAAGAGGGTGGACACACACTCCCCC ACACACGCGCGGGGGGCAGTCACAGTGGGCAGTGCACTGGAGAAGAGGGT GGACACACACTCCCCCACACACGCGCTGGGGGCAGTCACAGCGGGCAGCA CGCTGGAGAAGAGGGTGGACACACACTCCCCCACACACATGCGCTGGGGG CAGTCACAGTGGGCAGCGTGCTGGAGAAGAGGGTGGACACACACTCCCCC GCACACGCGCTGGGGGCAGTCACAGCGGGCAGTGCGCCGGAGAAGAGGGT GGACACACACTCCCCCACACACGCGCGGGGGGCAGTCACAGTGGGCAGCG TGCTGGAGAAGAGGGTGGACACACACTCCCCCGCACACGCGCTGGGGGCA GTCACAGCAGGCAGTGCGCCGGAGAAGAGGGTGGACACACACTCCCCCAC ACACGCGCTGGGGGCAGTCACAGCGGGCAGCGTGCTGGAGAAGAGGGTGG ACACACACTACCCCACACACGCGCTGGGGGCAGTCACAGCAGGCAGCGCG CCGGAGAAGAGGGTGGACACACACTCCCCCACACACGCGCTGGGGGCAGT CACAGCAGGCAGC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0060 a0001c0003t0060	a0001c0003t0060g0104 a0001c0003t0060g0104	1	106	0.0094	662	c.101 others(681): Show c.101-85282_101-85281insGCTGCCTGCTGTGACTGCCCCCAGCG CGTGTGTGGGGGAGTGTGTGTCCACCCTCTTCTCCGGCGCGCTGCCTGCT GTGACTGCCCCCAGCGCGTGTGTGGGGTAGTGTGTGTCCACCCTCTTCTC CAGCACGCTGCCCGCTGTGACTGCCCCCAGCGCGTGTGTGGGGGAGTGTG TGTCCACCCTCTTCTCCGGCGCACTGCCTGCTGTGACTGCCCCCAGCGCG TGTGCGGGGGAGTGTGTGTCCACCCTCTTCTCCAGCACGCTGCCCACTGT GACTGCCCCCCGCGCGTGTGTGGGGGAGTGTGTGTCCACCCTCTTCTCCG GCGCACTGCCCGCTGTGACTGCCCCCAGCGCGTGTGCGGGGGAGTGTGTG TCCACCCTCTTCTCCAGCACGCTGCCCACTGTGACTGCCCCCAGCGCATG TGTGTGGGGGAGTGTGTGTCCACCCTCTTCTCCAGCGTGCTGCCCGCTGT GACTGCCCCCAGCGCGTGTGTGGGGGAGTGTGTGTCCACCCTCTTCTCCA GTGCACTGCCCACTGTGACTGCCCCCCGCGCGTGTGTGGGGGAGTGTGTG TCCACCCTCTTCTCTGGCGCACTGCCCGCTGTGACTGTCCCCAGCGCGTG TGTGGGGGAGTGTGTGTCCACCCTCTTCTCCGGCTC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(655): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAGGGTGAGGGGAGGG GGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGAAGGGGGAGGGGAG GGGAGTCGACGAGTGGGAGGGGAGGGGAAGGTGAGGGGAGGGGGAGGTGA GGGGAGGGGGGGTGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGG GAGGATGGGAGGGGAGGGGGAGGGGAGGGGAAGGTGAGAGAAGGGGGAGG GGAAGGCGAGGGGAAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGAGGG GGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAGGTGAGGGGAGGGGAGGGG GAGGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGGGAGGATGGGA GGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAGGGGAAGGTG AGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAGGGGGAGGGGA AGGCGAGGGGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAGGGGAGGGGAG GGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	350	0.0029	662	c.248 others(677): Show c.2483+67_2483+68insCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCGCCTCCCCCTCCCCCTCCCCTCGCCTTCCCCTCCCCCTCCCCT CGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCACCTTCCCCTCCCCTC CCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCC CCTCCCCTCCCACCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCA CCTCCCCCTCCCCTCGCCTCCCCCTCCCCCTCCCCCTCCCCTCGCCTTCC CCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCAC CTTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCC CACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTCACCTCCCCCTCCCCT CACCTTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCTCCCCCTTCCC CTCCCCTCCCACCCATCCACTCCCCTCTCCTCCCCCTCCCCTCACCCTCC CCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCTCCCACCCGTCC ACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTCCCCTCCCACCCTTC CACTCCCCTCACCTCCTCCTCCCCCTCCCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ASAP2_chr2_9201812_9410678	9400203	C C	CCTCGCCC others(655): Show CCTCGCCCATCTGCCCCCTTCCCACTCCTGCCCCCCCCAGTCCCTCCTGC CCCCTCCCCTCCTGCCTCCTGCCCCCTCCCCCTCCCTGCCCCCTCCCCCT CCTGCCCCCTCCCCTCCTGGCCCCTCCCCTCCTGCCCCTTCCCCTCCTGC CCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCT CCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCT CCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCC CCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCC CCTCCTGCCCCCTTCCCCTCCTGCCCCTCACTGCCCCCCCTCCCCATCCT GCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCACTCCTGCCCTCCTGC CCCCTCCCCTCCTGCCCTCTCTCCCCTCCTGCCCTCCTGCCCCCCTCCCC TCCTGCCCTCCTGCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCCCCTC CTGTACCCCTCCCCCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTGCCCCC CCTCCCCTCCTGCCCCCTCCCTTCCTACCCCCTCCCCTCCTGCCCCCTCC CCTCCTCCCCTCA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0191 a0001c0004t0005g0191	1	210	0.0048	662	c.273 others(679): Show c.2734+131_2734+132insCTCGCCCATCTGCCCCCTTCCCACTCCT GCCCCCCCCAGTCCCTCCTGCCCCCTCCCCTCCTGCCTCCTGCCCCCTCC CCCTCCCTGCCCCCTCCCCCTCCTGCCCCCTCCCCTCCTGGCCCCTCCCC TCCTGCCCCTTCCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTTCCCCTCC TGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCC CTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCT CCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTG CCCTCCTGCCCCCTCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCCTC ACTGCCCCCCCTCCCCATCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCC CTCCCACTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCTCTCCCCTCC TGCCCTCCTGCCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTG TACCCCTCCCCCCTCCCCCTCCTGTACCCCTCCCCCCCCTCCTGCCCCCT CCCCTCCTGCCCCCTGCCCCCCCTCCCCTCCTGCCCCCTCCCTTCCTACC CCCTCCCCTCCTGCCCCCTCCCCTCCTCCCCTCA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	25/27			chr2	TogoVar
ATP11A_chr13_112685038_112892168	112804252	C C	CCCCTCCT others(655): Show CCCCTCCTTTTCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTC CTTCCCCTCCTTTTCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCC CTCCTTCCCCTCCTTTTCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCT GCCCTCGTTCCCCTCCTTTTCCTCCTTCACCTCCCTCCCCCCATCCCCTC TCTGCCCTCGTTCCCCTCCTTTTCCTCCTTCACCTCCCTCCCCCCATCCC CTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCACCTCCCTCCCCCCAT CCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCACCTCCCTCCCCC CATCCCCTCTCTGCCCTCGTTCCCCTCCTTTTCCTCCTTCACCTCCCTCC CCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCACCTCCC TCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCCCTC CTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCGTTCCCCTCCTTCCC TCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTT TCCTCCTTCCCTCCTTCACCTCCCTCCCCCCCATCCCCTCTCTGCCCTCC TTCCCCTCCTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0192 a0002c0003t0002g0192	1	254	0.0039	662	c.163 others(677): Show c.163-703_163-702insCTCCTTTTCCTCCTTCACCTCCCTCCCCCC ATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCACCTCCCTCCC CCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTCACCTCCCT CCCCCCATCCCCTCTCTGCCCTCGTTCCCCTCCTTTTCCTCCTTCACCTC CCTCCCCCCATCCCCTCTCTGCCCTCGTTCCCCTCCTTTTCCTCCTTCAC CTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTT CACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTC CTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCGTTCCCCTCCTTTTC CTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTT TTCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTC CTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGCCC TCGTTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCCTCTCTGC CCTCCTTCCCCTCCTTTTCCTCCTTCCCTCCTTCACCTCCCTCCCCCCCA TCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(655): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGAGGGGTGGGGTGGGGTGG GGGAAGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTG TGTGGGGCTGGGGAGGGGTGGGTAGGGTGGGGGAAGGGTGCGGGTGGGGT TGGGGAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGGCTGGGGAG GGGTGGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGGGGCTACTC CCTGGGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGGGGT GGAGGAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGTGGAAGAAG GGTGTGGGTGGGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGGGGTGGAGT GGGGGCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGGGGGAAGGGT GCAGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGGGGTGTGGGT GGGGTGGGGTGGGAGGGGTGGGGAGGGGTGGGAGGGGGTGGGGTGGGGGA GGGGTGGGGTGGG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	284	0.0035	662	c.712 others(679): Show c.712-2416_712-2415insCCCACCCCACCCCTCCCCCACCCCACCC CCTCCCACCCCTCCCCACCCCTCCCACCCCACCCCACCCACACCCCTCCC CCACCCCACCCACACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCC CACCCCTCCCCCACCCCACCCAGGGAGTAGCCCCCACTCCACCCCACCCC CTCCCACCCCACCCCACCCCTCCCCCACCCACACCCTTCTTCCACCCCAC CCCTCCCTCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACCC TTCCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCACTC CACCCCACCCCTCCCCCTCCCACCCCACCCCACCCCTCCCCAGCCCCACC CATACCCTTCCCCCACTCCACCCCACCCCTCCCCAACCCCACCCGCACCC TTCCCCCACCCTACCCACCCCTCCCCAGCCCCACACACACCCTTCCCCCA CCCCAACCCTCCCCAGCCCCACCCACACCCTTCCCCCACCCCACCCCACC CCTCCCCCACCCCACCCCAACCCTCCCCCACCCCACCCCAACCCTCCCCA GCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCCACCCAGGGA GTAGCCCCCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CCDC77_chr12_396644_447642	420939	C C	CACACATA others(655): Show CACACATAGCAGCACCCTCCATGTTCCATTACAGTGCTCTTCTGTGTGTG CTGGGAGTGAGGGTAAAATACACATAGCAGCACACTCCATGCTCCATTAC AGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATA GCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGG GAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGCTCCATTACAGT GCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACACACATAGC AGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGA GTGAGAGGGTAAATACACACATAGCAGCACCCTCCATGTTCCATTACAGT GCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACACACATAGC AGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGA GTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGCTCCATTACAGTG CACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAG CACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGT GAGAGGGTAAAAT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	432	0.0023	662	c.413 others(679): Show c.413+2325_413+2326insTTCCATTACAGTGCTCTTCTGTGTGTGC TGGGAGTGAGGGTAAAATACACATAGCAGCACACTCCATGCTCCATTACA GTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAG CAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGG AGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGCTCCATTACAGTG CGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACACACATAGCA GCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAG TGAGAGGGTAAATACACACATAGCAGCACCCTCCATGTTCCATTACAGTG CACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACACACATAGCA GCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAG TGAGAGGGTAAAATACACATAGCAGCACCCTCCATGCTCCATTACAGTGC ACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGC ACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTG AGAGGGTAAAATACACATAGCAGCACCCTCCATG	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	421235	C C	CACATAGC others(655): Show CACATAGCAGCACCCTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGTG TGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGTTCCAT TACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACA TAGCAGCACACTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGTGCT GGGAGTGAGAGGGTAAAATACACACATAGCAGCACCCTCCATGCTCCATT ACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACA TAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCT GGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGCTCCATTACA GTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACACACATA GCAGCACCCTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGG GAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGTTCCATTACAGT GCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAG CACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGT GAGAGGGTAAAAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp2 HG01943.hp1 others(6): Show HG00408.hp2 HG00639.hp2 HG01943.hp1 NA18950.hp2 NA18971.hp1 NA18985.hp2 NA19007.hp2 NA19012.hp2 NA19079.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0002 a0001c0001t0001 a0003c0003t0002	a0001c0001t0001g0132 a0001c0001t0001g0251 a0001c0001t0001g0252 others(6): Show a0001c0001t0001g0132 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0313 a0003c0003t0002g0230 a0003c0003t0002g0231 a0003c0003t0002g0232 a0003c0003t0002g0233 a0003c0003t0002g0385	9	432	0.0208	662	c.413 others(679): Show c.413+2602_413+2603insTAGCAGCACCCTCCATGTTCCATTACAG TGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCA GCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAG TGAGAGGGTAAACACACATAGCAGCACACTCCATGTTCCATTACAGTGCG CTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACACATAGCAG CACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGT GAGAGGGTAAAATACACATAGCAGCACCCTCCATGTTCCATTACAGTGCA CTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCAC CCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAG AGGGTAAATACACACATAGCAGCACCCTCCATGTTCCATTACAGTGCTCT TCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCC TCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAG GGTAAACACACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTG TGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	421827	C C	CACATAGC others(655): Show CACATAGCAGCACCCTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGTG TGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGTTCCAT TACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACA TAGCAGCACACTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGTGCT GGGAGTGAGAGGGTAAAATACACACATAGCAGCACCCTCCATGCTCCATT ACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACA TAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCT GGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGCTCCATTACA GTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACACACATA GCAGCACCCTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGG GAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGTTCCATTACAGT GCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAG CACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGT GAGAGGGTAAAAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	432	0.0023	662	c.413 others(679): Show c.413+3194_413+3195insTAGCAGCACCCTCCATGTTCCATTACAG TGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCA GCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAG TGAGAGGGTAAACACACATAGCAGCACACTCCATGTTCCATTACAGTGCG CTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACACATAGCAG CACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGT GAGAGGGTAAAATACACATAGCAGCACCCTCCATGTTCCATTACAGTGCA CTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCAC CCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAG AGGGTAAATACACACATAGCAGCACCCTCCATGTTCCATTACAGTGCTCT TCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCC TCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAG GGTAAACACACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTG TGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CECR2_chr22_17364460_17563151	17524554	G G	GGCTAATT others(655): Show GGCTAATTTTTTGTATTGTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTTTTCTG TTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTTTCTTA GATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATAACAGA TCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATAAGTGT ATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGATTTGGC TTTTTGAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTGGCTAA GAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAAAGTTA CTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGTCGCCCAGGCTG GAGTGCAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCCCGGGTTC TCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCC ACTACCACGCCCA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0203 a0001c0001t0003g0203	1	324	0.0031	662	c.110 others(679): Show c.1108+299_1108+300insGTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTT TTCTGTTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTT TCTTAGATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATA ACAGATCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATA AGTGTATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGAT TTGGCTTTTTGAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTG GCTAAGAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAA AGTTACTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGTCGCCCA GGCTGGAGTGCAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCCCG GGTTCTCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CACCCACTACCACGCCCAGCTAATTTTTTGTATT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17524554	G G	GGCTAATT others(655): Show GGCTAATTTTTTGTATTGTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTTTTCTG TTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTTTCTTA GATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATAACAGA TCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATAAGTGT ATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGATTTGGC TTTTTTAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTGGCTAA GAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAAAGTTA CTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGTCGCCCAGGCTG GAGTGCAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCCCGGGTTC TCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCC ACTACCACGCCCA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0159 a0001c0001t0019g0159	1	324	0.0031	662	c.110 others(679): Show c.1108+299_1108+300insGTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTT TTCTGTTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTT TCTTAGATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATA ACAGATCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATA AGTGTATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGAT TTGGCTTTTTTAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTG GCTAAGAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAA AGTTACTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGTCGCCCA GGCTGGAGTGCAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCCCG GGTTCTCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CACCCACTACCACGCCCAGCTAATTTTTTGTATT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr22	TogoVar

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Search Results (Total: 10000 hits)