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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Select column to sort.

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
VCX3B_chrX_8459830_8471510	8467180	T T	TGTGGGGA others(780): Show TGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGAGGTGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGG GAGGGAGGGAGGGAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGG GAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG TGTGGGGAGGGAGGGAGGGAGGGAGAGGTGGTGTGTGGGGAGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG TGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0057 a0057	a0057c0064 a0057c0064	a0057c0064t0006 a0057c0064t0006	a0057c0064t0006g0061 a0057c0064t0006g0061	1	271	0.0037	787	c.79 others(796): Show c.797_*798insGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGGAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAG GTGTGTGGGGAGGGAGGGAGGGAGGGAGAGGTGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAG GGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGAGGTGGTGTGTG GGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGT G	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		671		chrX	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(780): Show CCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCC TCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCCCTTCCTCA TCCCCTTCCCCCCTCCCCTTCTTCCTCTCCTCCTCCCTCCCCCCCTCCCC TTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTTCCTCCCCTTCCCCCT CCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCTCCTCCCTCCCCCTCC CCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCCTCCTCCCC TTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCTTCCCCTTCCTCCT CTCCTCCTCCCTCCCCTCCCCCCTCCCTCCCCTCCCCCTTCCCTCCTCCC TCCCCTCCCCCTTCCCTCCTTCCTCCCCTCCCCCTCCCCTACCCTCCTCC CTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCCCTCC CCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCT CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCC TCTCCTCCCCTCCCCCCATCCCCCTCCTCCCCCTCTCCCCTCCCCTCCCC TTCCCTTCCCCTCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCC CTCCCCATCTTCCCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCC TCCCCTCACCTGTCCCTCCCCTCTCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	322	0.0031	787	c.4-1 others(800): Show c.4-1376_4-1375insCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCC CTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTC CCCCTTCCTCATCCCCTTCCCCCCTCCCCTTCTTCCTCTCCTCCTCCCTC CCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTTCCTC CCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCTCCTC CCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCT TCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCTTC CCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCCTCCCTCCCCTCCCCCT TCCCTCCTCCCTCCCCTCCCCCTTCCCTCCTTCCTCCCCTCCCCCTCCCC TACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCT CCTCCCCCTCCCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCC TCCCCTCCCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCC TCCTCTTCCCCTCTCCTCCCCTCCCCCCATCCCCCTCCTCCCCCTCTCCC CTCCCCTCCCCTTCCCTTCCCCTCTCCTCCCCTCCTCCCTCCCCTCCCCA TCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCTACTCCCGTCACCTGTCC CTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTCTCCCCTTCCCCCTCAC CTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
AHRR_chr5_316714_443285	318246	C C	CACCTCCC others(781): Show CACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACC CTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCC CTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGC CCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCACCCTCCATCT GCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCAT CTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCC TGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCC ACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCC CCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCACCT CCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTT TACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCC TTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCC GCACCCTGCACCTCCCACCCTTACCCTGCACCTCTCCCCATCTTTTACCT CCCCCCACCCTCCATCTCCCCCAACCCTGCACCTCCCCCATCCTTCACCT CCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCT GCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0008 a0005c0005t0008	a0005c0005t0008g0108 a0005c0005t0008g0108	1	268	0.0037	788	c.-35 others(799): Show c.-3584_-3583insACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTC ATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCC CCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCC CCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCC CCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCT CCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGC ACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCAT CCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCA ATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCC CCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCA CCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTG CACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACC CTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCT CCCCATCTTTTACCTCCCCCCACCCTCCATCTCCCCCAACCCTGCACCTC CCCCATCCTTCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCA CCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATC CTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3467		chr5	TogoVar
CAMTA1_chr1_6780454_7774706	6940912	A A	AGGGGGTC others(781): Show AGGGGGTCCTCACAGGGAGGGGGGTCCTCAGAGGGAGAGGGATCCTCCCG GGGAAGGGGGATCCTCAGGGGGAAGGGCATCCTCAGGGGGAAGGGGGATC CTCATGGGGAGGGGGATCCTCAGGGGGAGGGGAGATCCTCATGAGGAGGG GGGATCCTCACGGGGAGGGGGGGATCCTCCTCACAGGGAGGTGGATCCTC ACGGGGAAGGGATCCTCAGGGGGAGGGGGATCCTCACAGGGAGGGGATCC TCGGGAAGGTGGATCCTCACGGGGAGGAGGATCCTCACGGGGAGGGGGAT CCTCAGGGGGAGGGGGATCCTCACGGGGAGGGGATCCTCAGGGGGAGGTG GATCCTCACGGGGAGGGGATCCTCATGGGGAGGGGGGATCCTCAGAGGGA GGGGGGATCCTTGGGGGGAGGGGGATCCTCACAGGGTGGGGGGATCCTCA CAGGGAGGGGGATCCTCACGGGGAGGGGGGATCCTTGGGGGGAGGGGGAT CCTCACAGGGTGGGGGGATCCTCACAGGGAGGGGGATCCTCACAGGGAGG GGGGATCCTTGGGGGGAGGGGGATCCTCACAGGGTGGGGGGATCCTCACA GGGAGGGGGATCCTCACGGGGAGGGGGGATCCTTGGGGGGAGGGGGATCC TCACAGGGTGGGGGGATCCTCACAGGGAGGGGGATCCTCACAGGGAGGGG GGATCCTTGGGGGGAGGGGGATCCTCACAGGGTGGGGGGATCCTCACAGG GAGGGGGATCCTCACAGGGAGGGGGATCCTCACAGGGAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0024 a0001c0016t0024	a0001c0016t0024g0053 a0001c0016t0024g0053	1	58	0.0172	788	c.234 others(809): Show c.234+115706_234+115707insGTCCTCACAGGGAGGGGGGTCCTC AGAGGGAGAGGGATCCTCCCGGGGAAGGGGGATCCTCAGGGGGAAGGGCA TCCTCAGGGGGAAGGGGGATCCTCATGGGGAGGGGGATCCTCAGGGGGAG GGGAGATCCTCATGAGGAGGGGGGATCCTCACGGGGAGGGGGGGATCCTC CTCACAGGGAGGTGGATCCTCACGGGGAAGGGATCCTCAGGGGGAGGGGG ATCCTCACAGGGAGGGGATCCTCGGGAAGGTGGATCCTCACGGGGAGGAG GATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGA GGGGATCCTCAGGGGGAGGTGGATCCTCACGGGGAGGGGATCCTCATGGG GAGGGGGGATCCTCAGAGGGAGGGGGGATCCTTGGGGGGAGGGGGATCCT CACAGGGTGGGGGGATCCTCACAGGGAGGGGGATCCTCACGGGGAGGGGG GATCCTTGGGGGGAGGGGGATCCTCACAGGGTGGGGGGATCCTCACAGGG AGGGGGATCCTCACAGGGAGGGGGGATCCTTGGGGGGAGGGGGATCCTCA CAGGGTGGGGGGATCCTCACAGGGAGGGGGATCCTCACGGGGAGGGGGGA TCCTTGGGGGGAGGGGGATCCTCACAGGGTGGGGGGATCCTCACAGGGAG GGGGATCCTCACAGGGAGGGGGGATCCTTGGGGGGAGGGGGATCCTCACA GGGTGGGGGGATCCTCACAGGGAGGGGGATCCTCACAGGGAGGGGGATCC TCACAGGGAGGGGG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLTCL1_chr22_19174473_19296719	19202402	C C	CCGCCATC others(781): Show CCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGC ACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCCCACCAC CCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCA TCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACCTCC CCCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCGCACCACCCCTCC TTCCGCCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGCCATCCACG GCACCTCCCGCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCGCACC ACCCCTCCTTCCGCCATCCACGGTACCTCCCGCACCACCCCTCCTTCCGC CATCACGGCACCTCCCCCAAAACCCCTCCTTCCGTCATCCACGGCACCTC CCGCACCACCCCTGCTTCACCATCCACGGCACCTCCCGCACCACCCCTCC TTCCGTCATCCACGGCACCTCCCGCACCACCCCTCCTTCGCCATCCACGG CACCTCCCGCACCACCCCTCCTTCCGTCATCCACGGCACCTCCCGCACCA CCCCTCCTTCCGTCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGTC ATCCACGGCACCTCCCGCACCACCCCTCCTTCCGTCATCCACGGCACCTC CCGCACCACCCCTCCTTCCGTCATCCACGGCACCTCCCGCACCACCCCTC CTTCCGTCATCCACGGCACCTCCCGCACCACCCCTCCTT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0165 a0001c0003t0001g0165	1	346	0.0029	788	c.360 others(805): Show c.3601-910_3601-909insAAGGAGGGGTGGTGCGGGAGGTGCCGTG GATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGAG GGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTGGTGCGGGAG GTGCCGTGGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGAC GGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTGG TGCGGGAGGTGCCGTGGATGGCGAAGGAGGGGTGGTGCGGGAGGTGCCGT GGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGTGAAGCAG GGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTTTTGGGGGAG GTGCCGTGATGGCGGAAGGAGGGGTGGTGCGGGAGGTACCGTGGATGGCG GAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGT GCGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGCGGGAGGTGCCGT GGATGGCGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGCGGAAGGA GGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGA GGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGG CGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTG GTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCC GTGGATGGCG	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	22/32			chr22	TogoVar
CLTCL1_chr22_19174473_19296719	19202402	C C	CCGCCATC others(781): Show CCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGC ACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCCCACCAC CCCTCCTTCCGCCATCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCA TCCACGGCACCTCCCCCACCACCCCTCCTTCCGCCATCCACGGCACCTCC CCCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCGCACCACCCCTCC TTCCGCCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGCCATCCACG GCACCTCCCGCACCACCCCTCCTTCCGCCATCCACGGCACCTCCCGCACC ACCCCTCCTTTGCCATCCACGGTACCTCCCGCACCACCCCTCCTTCCGCC ATCACGGCACCTCCCCCAAAACCCCTCCTTCCGTCATCCACGGCACCTCC CGCACCACCCCTGCTTCACCATCCACGGCACCTCCCGCACCACCCCTCCT TCCGTCATCCACGGCACCTCCCGCACCACCCCTCCTTCGCCATCCACGGC ACCTCCCGCACCACCCCTCCTTCCGTCATCCACGGCACCTCCCGCACCAC CCCTCCTTCCGTCATCCACGGCACCTCCCGCACCACCCCTCCTTCCGTCA TCCACGGCACCTCCCGCACCACCCCCTCCTTCCGTCATCCACGGCACCTC CCGCACCACCCCTCCTTCCGTCATCCACGGCACCTCCCGCACCACCCCTC CTTCCGTCATCCACGGCACCTCCCGCACCACCCCTCCTT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0173 a0001c0003t0001g0173	1	346	0.0029	788	c.360 others(805): Show c.3601-910_3601-909insAAGGAGGGGTGGTGCGGGAGGTGCCGTG GATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGAG GGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGAGGGGGTGGTGCGGGA GGTGCCGTGGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGA CGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTG GTGCGGGAGGTGCCGTGGATGGCGAAGGAGGGGTGGTGCGGGAGGTGCCG TGGATGACGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGTGAAGCA GGGGTGGTGCGGGAGGTGCCGTGGATGACGGAAGGAGGGGTTTTGGGGGA GGTGCCGTGATGGCGGAAGGAGGGGTGGTGCGGGAGGTACCGTGGATGGC AAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGT GCGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGCGGGAGGTGCCGT GGATGGCGGAAGGAGGGGTGGTGCGGGAGGTGCCGTGGATGGCGGAAGGA GGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGA GGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGG CGGAAGGAGGGGTGGTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTG GTGGGGGAGGTGCCGTGGATGGCGGAAGGAGGGGTGGTGGGGGAGGTGCC GTGGATGGCG	CLTCL1	ENSG00000070371.16	transcript	ENST00000427926.6	protein_coding	22/32			chr22	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(781): Show CAGTTTATAGATGATATGGGGGTAGGGAGGGGGGTGCAGTTGATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGG CGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGC AGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAAT ATGGGGGCGGGGCGGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGC GGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTA TAGATAATATGGGGGCGGGGCGGGGGTGTAGCTTATAGATAATATGGGGG CAGGGCCAGAGTATAGTTTATAGATAATATGGAGGCGGGGCGGGGGTACA GTTTATAGATAATATGGAGGCGGGGCGGGGGTGTAGTTTATAGGTAATAT GGAGGTGGGGTAGGGGAGTGCAGTGTATAGATAATATGGGGGGCGGGGCA GGGGGTGTACTTTATAGATAATATGGGGGGCGGGGTAGGGGGTGTAGTTT ATAGATAATATGGGGGCGGGGCAGGGGGTGCAATTTATAGATAATATGAG GGTGGGGCAGGGGTGCAGTTTGTAGATAATATGGGGGGCAGGGCAGGGGG TGCAGTTTATAGATAATATGGGGGTGGGGTAGGGGGTGT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	272	0.0037	788	c.109 others(807): Show c.109+14824_109+14825insGATATGGGGGTAGGGAGGGGGGTGCA GTTGATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGCGGGGCGGGGGGTGCAGTTTATAGATAATAT GGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGG GGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGTAGCTTATAG ATAATATGGGGGCAGGGCCAGAGTATAGTTTATAGATAATATGGAGGCGG GGCGGGGGTACAGTTTATAGATAATATGGAGGCGGGGCGGGGGTGTAGTT TATAGGTAATATGGAGGTGGGGTAGGGGAGTGCAGTGTATAGATAATATG GGGGGCGGGGCAGGGGGTGTACTTTATAGATAATATGGGGGGCGGGGTAG GGGGTGTAGTTTATAGATAATATGGGGGCGGGGCAGGGGGTGCAATTTAT AGATAATATGAGGGTGGGGCAGGGGTGCAGTTTGTAGATAATATGGGGGG CAGGGCAGGGGGTGCAGTTTATAGATAATATGGGGGTGGGGTAGGGGGTG TAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134729517	T T	TGTGTGTG others(781): Show TGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGCGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTG TGCATGAGCCTGCGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCA CGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATG CGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTG TGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAG CGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTG TGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTG AGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACG GGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0001 a0001c0003t0002g0001	2	272	0.0074	788	c.925 others(803): Show c.925-674_925-673insCGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTGTGAGCGTGTGTGAG CGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTGAGCGTG TGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTG AGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACG GGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCC TGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COMMD9_chr11_36267292_36294424	36287088	T T	TACAATGT others(781): Show TACAATGTATATCATGTAGTATGTATACTACAATGTATATCATGTAGTAT GTATACTACATACTATGTATATCATGTAGTATGTATACTACATACTATGT ATATCATGTAGTATGTATACTACTATGTATATCATGTAGTATGTATACCA CATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATG TAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATA CTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGT ATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTAT GTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGT ATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTAT ATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATAC CACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCA TGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACA TACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTA GTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACT ATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTAT GTATACCACATACTATGTATATCATGTAGTATGTATACC	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	448	0.0022	788	c.51+ others(803): Show c.51+2273_51+2274insGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATA CATACTACATGATATACATAGTATGTGGTATACATACTACATGATATACA TAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATA CTACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGT ATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTAC ATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGT GGTATACATACTACATGATATACATAGTATGTGGTATACATACTACATGA TATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTA TACATACTACATGATATACATAGTATGTGGTATACATACTACATGATATA CATAGTATGTGGTATACATACTACATGATATACATAGTAGTATACATACT ACATGATATACATAGTATGTAGTATACATACTACATGATATACATAGTAT GTAGTATACATACTACATGATATACATTGTAGTATACATACTACATGATA TACATTGT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
CRTC3_chr15_90524923_90650345	90647359	A A	ACACCCCT others(781): Show ACACCCCTCCTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCCTCCTC CTCCTCCACACCCCTCCTCCTCACCCCTCCTCCTCCTCCACACCCCTCCT CCTCCACACCCCTCCTCCTCCTCCACACCCCTCCTCCTCCACACCCCTCC TCCTCCTCCACACCCCTCCTCCTCCTCCACACCCCTCCTCCTCCTCCACA CCCCTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCCTCCTCCTCCAC ACCCCTCCTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCCTCCTCCT CCTCCACACCCCTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCCTCC TCCTCCACACCCCTCCTCCTCCTCCACACCCCTCCTCCTCCTCCACACCC CTCCTCCTCCACACCCCTCTTCCTCCTCCATACCCCTCCTCCTCAACCCT CCTCCTTCACACCCCTCACCCCTTTTCCACATCCCTCCTCCTTGCCCCTC CTCCTCACCCTTTGTCCTCCTCCACACCCCTTCTCCTCCTCCATACCCCT CCTTCTCAACCCTCCTCCTCCACACCCCTCCTCCTCACCCCTTCTCCTCC TCCACACCTGTCCTCCTCCACACTCATCCTCCTCACCGTTCCTCCACCAC ATCCCTCCTCCTCCACACCCCTCCTCACCCCTTGTCCTCCTCCAAACGCT TCTTCCTCCTGTTTCTTCCTCCACACCCCTCCTGCTCCACATCCCTCCCC CTCCATCCCCTCCACACCCCTCCCCCTCCTCACCCCGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	276	0.0036	788	c.52 others(799): Show c.5219_*5220insCACCCCTCCTCCTCCTCCACACCCCTCCTCCTCC TCCACACCCCTCCTCCTCCTCCACACCCCTCCTCCTCACCCCTCCTCCTC CTCCACACCCCTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCCTCCT CCTCCACACCCCTCCTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCC TCCTCCTCCTCCACACCCCTCCTCCTCCACACCCCTCCTCCTCCTCCACA CCCCTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCCTCCTCCTCCTC CACACCCCTCCTCCTCCTCCACACCCCTCCTCCTCCACACCCCTCCTCCT CCTCCACACCCCTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCCTCC TCCTCCTCCACACCCCTCCTCCTCCACACCCCTCTTCCTCCTCCATACCC CTCCTCCTCAACCCTCCTCCTTCACACCCCTCACCCCTTTTCCACATCCC TCCTCCTTGCCCCTCCTCCTCACCCTTTGTCCTCCTCCACACCCCTTCTC CTCCTCCATACCCCTCCTTCTCAACCCTCCTCCTCCACACCCCTCCTCCT CACCCCTTCTCCTCCTCCACACCTGTCCTCCTCCACACTCATCCTCCTCA CCGTTCCTCCACCACATCCCTCCTCCTCCACACCCCTCCTCACCCCTTGT CCTCCTCCAAACGCTTCTTCCTCCTGTTTCTTCCTCCACACCCCTCCTGC TCCACATCCCTCCCCCTCCATCCCCTCCACACCCCTCCCCCTCCTCACCC CGTC	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2015		chr15	TogoVar
CSMD1_chr8_2930361_4999914	4258514	G G	GGAGGGAG others(781): Show GGAGGGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGAGGG AGGGGAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAG GGGAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGG GAGGATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGA GGACGGAAGGAGGGAAGGAGGGAGGCGAGGCTAGAAGGAGGGAGGGATGG AGGGAGGGATGGAAGGATGGAGGGAGGAAAGAATGGAGGGAGGGAGGGAA GAATGGAGGGAGGGAGGGAGGGAAGAATGGAGGAAGGGAGGGAGGGAGGG AAGAATGGAGGAAGGGAGGGATGGAGGGAAGAATGGAGGGAGGGAGGGAG GGAAGAATGGAGGGAGGGAGGGAAGGAAGAATGGAGGGAGGTAAGAATGG AGGGAGGGAGGGAAGAATGCAGGGAGGGAGGGAGGGAAGAATGCAGAGAG GGAGGGAAGAATGGAAGAATGGAGGGAGGGAAGAATGGAGGGAGGGAAGA GTGGAAGAATGGAGAGAGGGAAGAGTGGAAGAATGGAGGGAGGGAAGAGT GGAAAAATGGAGGGAGCGAGTGAGGGAGGGAAGAATGGAAGAATGGAAGA ATGGAGGGAGGGAAGAATGCAAGACTGGAGGGAGGGAAGAATGCAAGACT GGAGGGAGGGAAGAATGGAAGAATGGACGGAAGGAAGAGTGGAAGAATGG AGGGAGGGAGGGAGGGAGGGAGGCAGGGAAGAGTGGAAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0057 a0003c0057	a0003c0057t0080 a0003c0057t0080	a0003c0057t0080g0075 a0003c0057t0080g0075	1	126	0.0079	788	c.415 others(809): Show c.415+161438_415+161439insGTTCCACTCTTCCCTGCCTCCCTC CCTCCCTCCCTCCCTCCATTCTTCCACTCTTCCTTCCGTCCATTCTTCCA TTCTTCCCTCCCTCCAGTCTTGCATTCTTCCCTCCCTCCAGTCTTGCATT CTTCCCTCCCTCCATTCTTCCATTCTTCCATTCTTCCCTCCCTCACTCGC TCCCTCCATTTTTCCACTCTTCCCTCCCTCCATTCTTCCACTCTTCCCTC TCTCCATTCTTCCACTCTTCCCTCCCTCCATTCTTCCCTCCCTCCATTCT TCCATTCTTCCCTCCCTCTCTGCATTCTTCCCTCCCTCCCTCCCTGCATT CTTCCCTCCCTCCCTCCATTCTTACCTCCCTCCATTCTTCCTTCCCTCCC TCCCTCCATTCTTCCCTCCCTCCCTCCCTCCATTCTTCCCTCCATCCCTC CCTTCCTCCATTCTTCCCTCCCTCCCTCCCTTCCTCCATTCTTCCCTCCC TCCCTCCCTCCATTCTTCCCTCCCTCCCTCCATTCTTTCCTCCCTCCATC CTTCCATCCCTCCCTCCATCCCTCCCTCCTTCTAGCCTCGCCTCCCTCCT TCCCTCCTTCCGTCCTCCCCTCCCTCCCTCCCTCTGTCCTCCCCTCCCTC CCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCTGTCCTCCCCTCCCTCCC TCCTTCCATCCTCCCCTCCCTCCCTCCCTCTGTCCTCCCCTCCCTCCCTC CTTCCATCCTCCCCTCCCTCCCTCCCTCCCTCCTTCCATCCTCCCCTCCC TCCCTCCCTCCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4258514	G G	GGAGGGAG others(781): Show GGAGGGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGGAGG ACAGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGAGGAGGAC AGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGGAGGACAG AGGGAGGGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGGA GGACAGAGGGAGGGAGGGAGGGGAGGACGGAAGGAGGGAAGGAGGGAGGC GAGGCTAGAAGGAGGGAGGGATGGAGGGAGGGATGGAAGGATGGAGGGAG GAAAGAATGGAGGGAGGGAGGGAAGAATGGAGGGAGGGAGGGAGGGAAGA ATGGAGGAAGGGAGGGAGGGAGGGAAGAATGGAGGGAGGGAGGGAGGGAG GGAAGAATGGAGGGAGGGAGGGAAGGAAGAATGGAGGGAGGTAAGAATGG AGGGAGGGAGGGAAGAATGCAGGGAGGGAGGGAGGGAAGAATGCAGAGAG GGAGGGAAGAATGGAAGAATGGAGGGAGGGAAGAATGGAGGGAGGGAAGA GTGGAAGAATGGAGAGAGGGAAGAGTGGAAGAATGGAGGGAGGGAAGAGT GGAAAAATGGAGGGAGCGAGTGAGGGAGGGAAGAATGGAAGAATGGAAGA ATGGAGGGAGGGAAGAATGCAAGACTGGAGGGAGGGAAGAATGCAAGACT GGAGGGAGGGAAGAATGGAAGAATGGACGGAAGGAAGAGTGGAAGAATGG AGGGAGGGAGGGAGGGAGGGAGGCAGGGAAGAGTGGAAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03540.hp1 HG02572.hp2 HG03540.hp1	a0002 a0007 a0002 a0007	a0002c0015 a0007c0029 a0002c0015 a0007c0029	a0002c0015t0021 a0007c0029t0011 a0002c0015t0021 a0007c0029t0011	a0002c0015t0021g0008 a0007c0029t0011g0054 a0002c0015t0021g0008 a0007c0029t0011g0054	2	126	0.0159	788	c.415 others(809): Show c.415+161438_415+161439insGTTCCACTCTTCCCTGCCTCCCTC CCTCCCTCCCTCCCTCCATTCTTCCACTCTTCCTTCCGTCCATTCTTCCA TTCTTCCCTCCCTCCAGTCTTGCATTCTTCCCTCCCTCCAGTCTTGCATT CTTCCCTCCCTCCATTCTTCCATTCTTCCATTCTTCCCTCCCTCACTCGC TCCCTCCATTTTTCCACTCTTCCCTCCCTCCATTCTTCCACTCTTCCCTC TCTCCATTCTTCCACTCTTCCCTCCCTCCATTCTTCCCTCCCTCCATTCT TCCATTCTTCCCTCCCTCTCTGCATTCTTCCCTCCCTCCCTCCCTGCATT CTTCCCTCCCTCCCTCCATTCTTACCTCCCTCCATTCTTCCTTCCCTCCC TCCCTCCATTCTTCCCTCCCTCCCTCCCTCCCTCCATTCTTCCCTCCCTC CCTCCCTTCCTCCATTCTTCCCTCCCTCCCTCCCTCCATTCTTCCCTCCC TCCCTCCATTCTTTCCTCCCTCCATCCTTCCATCCCTCCCTCCATCCCTC CCTCCTTCTAGCCTCGCCTCCCTCCTTCCCTCCTTCCGTCCTCCCCTCCC TCCCTCCCTCTGTCCTCCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTC CCTCCCTCCCTCCCTCTGTCCTCCCCTCCCTCCCTCCTTCCATCCTCCCC TCCCTCCCTCCCTCTGTCCTCCTCTCCCTCCCTCCTTCCATCCTCCCCTC CCTCCCTCCCTCTGTCCTCCCCTCCCTCCCTCCTTCCATCCTCCCCTCCC TCCCTCCCTCCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4258514	G G	GGAGGGAT others(781): Show GGAGGGATGGAAGGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGG AGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGAGGGAGGGGAGGATGGAA GGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGAGGATGGAAGG AGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGAGGATGGAAGGAG GGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGAGGACGGAAGGAGGG AAGGAGGGAGGCGAGGCTAGAAGGAGGGAGGGATGGAGGGAGGGATGGAA GGATGGAGGGAGGAAAGAATGGAGGGAGGGACGGAAGAATGGAGGGAGGG AGGGAGGGAGGGAAGAATGGAGGGAGGGAGGGAAGGAAGAATGGAGGGAG GGAGGGAAGGAAGAATGGAGGGAGGTAAGAATGGAGGGAGGGAGGGAAGA ATGCAGGGAGGGAGGGAGGGAAGAATGCAGAGAGGGAGGGAGGGAAGAAT GCAGAGAGGGAGGGAAGAATGGAAGAATGGAGGGAGGGAAGAATGGAGGG AGGGAAGAGTGGAAGAATGGAGAGAGGGAAGAGTGGAAGAATGGAGGGAG GGAAGAGTGGAAAAATGGAGGGAGCGAGTGAGGGAGGAAAGAATGGAAGA ATGGAGGGAGGGAAGAATGCAAGACTGGAGGGAGGGAAGAATGCAAGACT GGAGGGAGGGAAGAATGGAAGAATGGACGGAAGGAAGAGTGGAAGAATGG AGGGAGGGAGGGAGGGAGGCAGGCAGGGAAGAGTGGAAC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0105 a0001c0105	a0001c0105t0001 a0001c0105t0001	a0001c0105t0001g0029 a0001c0105t0001g0029	1	126	0.0079	788	c.415 others(809): Show c.415+161438_415+161439insGTTCCACTCTTCCCTGCCTGCCTC CCTCCCTCCCTCCCTCCATTCTTCCACTCTTCCTTCCGTCCATTCTTCCA TTCTTCCCTCCCTCCAGTCTTGCATTCTTCCCTCCCTCCAGTCTTGCATT CTTCCCTCCCTCCATTCTTCCATTCTTTCCTCCCTCACTCGCTCCCTCCA TTTTTCCACTCTTCCCTCCCTCCATTCTTCCACTCTTCCCTCTCTCCATT CTTCCACTCTTCCCTCCCTCCATTCTTCCCTCCCTCCATTCTTCCATTCT TCCCTCCCTCTCTGCATTCTTCCCTCCCTCCCTCTCTGCATTCTTCCCTC CCTCCCTCCCTGCATTCTTCCCTCCCTCCCTCCATTCTTACCTCCCTCCA TTCTTCCTTCCCTCCCTCCCTCCATTCTTCCTTCCCTCCCTCCCTCCATT CTTCCCTCCCTCCCTCCCTCCCTCCATTCTTCCGTCCCTCCCTCCATTCT TTCCTCCCTCCATCCTTCCATCCCTCCCTCCATCCCTCCCTCCTTCTAGC CTCGCCTCCCTCCTTCCCTCCTTCCGTCCTCCCCTCCCTCCCTCCCTCTG TCCTCCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCTGTC CTCCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCTGTCCT CCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCCTCCCTCCTTC CATCCTCCCCTCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCC TCCTTCCATCCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
FAM81A_chr15_59433186_59528555	59433245	C C	CAGGCGTT others(781): Show CAGGCGTTCAGGACCAGCCTGACCAACATGGTGAAACCCTGACTCTACTA AAAATTACAAAAATTAGCCAGGTGTGGTGGCACGCGCCTATAATCCCAGC TACTCGGGAGGCTGAGGAAGGAGAATTTCTTGAACCCGGGAGGTGGAGAT TACAGTGAGCCAAGATTGCACCATTGCACTCCAGCCTGAGCAACAAGAGC AAAACTCCATCTCAAAAAAAAAAAAAAGAAAAAGAAATTGATGCAAAACA TCCATGATTAATAAAAAATGAAAATTTTCAATAAGGACAGGGTCAGTATT CCTAATTTTCTTTGCCTGGCTTCAATATGTCTTGCTATGGCACTGTATAC CACAACCTCATGTGATGGGTATTGTCATTTCTTTTTTGTTGTTGAACAGA AGTTCAAGTTGTCTTTTAATTCAACCTATGAGAACAACTGTCTGATAATG TATTACTTGACAAAGAAGCCAAAACAAGAGTGTCAGCTTATGTGAGGTTT CATTGTCTAAACTGTGGTGTCATGACTGGCTAATGTAAGGTAGGCCATGA ATGTTTGCTGAACTAGATTGAACCGAGCCAAAGTGGTATCAAACTTCAGA ACAGCCTGAAGACTATATATGTGTGTATTTTATATATATATATATATATA TATATATATATATATATATATATGTCTATTTCCTGAGAATTGTTGGAAAG AAGAATTGTTTCAAAATCAATGTGAAATAGAATTTTCCATTACTTTTCTT GCCTCTGAACTGGGTTTTGGACAAATCAGTTTTATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0051 a0001c0003t0002g0051	1	374	0.0027	788	c.-51 others(799): Show c.-5115_-5114insAGGCGTTCAGGACCAGCCTGACCAACATGGTGAA ACCCTGACTCTACTAAAAATTACAAAAATTAGCCAGGTGTGGTGGCACGC GCCTATAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATTTCTTGAAC CCGGGAGGTGGAGATTACAGTGAGCCAAGATTGCACCATTGCACTCCAGC CTGAGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAGAAAAAGA AATTGATGCAAAACATCCATGATTAATAAAAAATGAAAATTTTCAATAAG GACAGGGTCAGTATTCCTAATTTTCTTTGCCTGGCTTCAATATGTCTTGC TATGGCACTGTATACCACAACCTCATGTGATGGGTATTGTCATTTCTTTT TTGTTGTTGAACAGAAGTTCAAGTTGTCTTTTAATTCAACCTATGAGAAC AACTGTCTGATAATGTATTACTTGACAAAGAAGCCAAAACAAGAGTGTCA GCTTATGTGAGGTTTCATTGTCTAAACTGTGGTGTCATGACTGGCTAATG TAAGGTAGGCCATGAATGTTTGCTGAACTAGATTGAACCGAGCCAAAGTG GTATCAAACTTCAGAACAGCCTGAAGACTATATATGTGTGTATTTTATAT ATATATATATATATATATATATATATATATATATATATGTCTATTTCCTG AGAATTGTTGGAAAGAAGAATTGTTTCAAAATCAATGTGAAATAGAATTT TCCATTACTTTTCTTGCCTCTGAACTGGGTTTTGGACAAATCAGTTTTAT TATA	FAM81A	ENSG00000157470.12	transcript	ENST00000288228.10	protein_coding		4940		chr15	TogoVar
FBXO47_chr17_38931432_38972403	38946707	T T	TATATAAA others(781): Show TATATAAATATATAAATAAAAATATATAAAAATATATACATATATAAATA TAAATATATAAATATATAAATATATAAATATATAAATATAAATATATAAA AATATATAAATATATAAAAATATATAAATATATAAAAATATATAAATATA TAAATATATATAAATATATATAAATATATAAATATATAAATATATATAAA TATATAAAAATATAAAAATATATAAATATATAAATATATAAAAATATATA AATACATAAATATATAAATATATAAATATATAAATATATAAATATATAAA TATATAAATATATAAATATATATAAGTACATATAAATATATATACATAAA TATATAAATATATAAATATATAAATATATAAATACATAATATATATAAAT ATAAAATATATATAATATATAAAATATATTAAAAATATAAAAATATATAT AAAAAAATATATAAATATATAAAAATATATAAAAAATATATACACATATA AATATATATAAAAATATATAAATATATATAAAAATATATAAATATATATT ATATATAAATATATAATATATAAATATATACAATATATAAATATATATAA ATATATACAATATATAAATATATATAAATATATACAATATATAAATATAT ATAAATATATACAATATATAAATATATATAAATATATATAATATATAAAT ATATATAAATATATACAATATATAAATATATATAAATATATATAATATAT AAATATATATAAATATATAAATATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	344	0.0029	788	c.617 others(805): Show c.617-1572_617-1571insTATATATATTTATATATATTTATATATT TATATATATTTATATATTATATATATTTATATATATTTATATATTGTATA TATTTATATATATTTATATATTATATATATTTATATATATTTATATATTG TATATATTTATATATATTTATATATTGTATATATTTATATATATTTATAT ATTGTATATATTTATATATATTTATATATTGTATATATTTATATATTATA TATTTATATATAATATATATTTATATATTTTTATATATATTTATATATTT TTATATATATTTATATGTGTATATATTTTTTATATATTTTTATATATTTA TATATTTTTTTATATATATTTTTATATTTTTAATATATTTTATATATTAT ATATATTTTATATTTATATATATTATGTATTTATATATTTATATATTTAT ATATTTATATATTTATGTATATATATTTATATGTACTTATATATATTTAT ATATTTATATATTTATATATTTATATATTTATATATTTATATATTTATAT ATTTATGTATTTATATATTTTTATATATTTATATATTTATATATTTTTAT ATTTTTATATATTTATATATATTTATATATTTATATATTTATATATATTT ATATATATTTATATATTTATATATTTTTATATATTTATATATTTTTATAT ATTTATATATTTTTATATATTTATATTTATATATTTATATATTTATATAT TTATATATTTATATTTATATATGTATATATTTTTATATATTTTTATTTAT ATATTTATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FER_chr5_108742897_109201841	108930372	T T	TTCCCTCC others(781): Show TTCCCTCCCCTCTCCTCTCCCCTCCTTCCCCTCCCCTCTCCTCTCCCCTC CCCTCCCCCCCCTTCCTCTGCCCTCCCTTCCCCTCCCCCCTCCTCCTCTC CTCTCCCCTCTTTTCCTCCCCTCCCCTTCTCCTCCCATCCCTTCCCTTAT CCTCCCCTTCTCCTCCCCTCACCTTCTCCTCTCCTCCCCTCCCCTTCTCC TCTCCTCTCCTCCCCTCCCCTTCTCCTCTCCTCCTCTCACCTCCCTTCTC CTCCCCTCCCCTTCTCCTGTCCTCCCCTCCCCTTCTCCTCTCCTCCCCTT CTCTTCCCTTCCCCTCCCCTCCCCTTTTCCTCCCCTCCCTGCCCCTCCCC TCTCCTCCCGTCTCCTCCCTTCCCCTCTCTTCCCCTCCTCTTCTCCCCTC CCCTCCCCCTCTCCTCCCTTCCTCGCCCCTCCCCTTTTTCTCTCTTCCCC TCCCTTTCCCACCCCTTCTCCTCCCCTCTTCCCTCTTTTCCCTCCCCTCC TTTTTTCCTCCCCTTCTTCTCCCCTCCCCTTCTCCTCTCCTCCCCTCCCC TCCCCTTTTCCACCCCTTTTCCTCTTCTTTTCTTCCTCTCCCCTCTCCTC CCCTCCCCTCTGCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCCCCTCCCC TTTTTCTCCCCTCCCCTCCCTGCCTCTTCTCCTTTCCTCCCTTCCCCTCC CCTCCCCTCTCCTTTCCCTCCCCTCCCCTCCCTTTCCTGCCCCTTCTCCT CACCTCTCTTCCCCTCCCCTCTCTTCCCCTCTCCTTTCC	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	138	0.0073	788	c.123 others(809): Show c.1237-15754_1237-15753insTCCCCTCTCCTCTCCCCTCCTTCC CCTCCCCTCTCCTCTCCCCTCCCCTCCCCCCCCTTCCTCTGCCCTCCCTT CCCCTCCCCCCTCCTCCTCTCCTCTCCCCTCTTTTCCTCCCCTCCCCTTC TCCTCCCATCCCTTCCCTTATCCTCCCCTTCTCCTCCCCTCACCTTCTCC TCTCCTCCCCTCCCCTTCTCCTCTCCTCTCCTCCCCTCCCCTTCTCCTCT CCTCCTCTCACCTCCCTTCTCCTCCCCTCCCCTTCTCCTGTCCTCCCCTC CCCTTCTCCTCTCCTCCCCTTCTCTTCCCTTCCCCTCCCCTCCCCTTTTC CTCCCCTCCCTGCCCCTCCCCTCTCCTCCCGTCTCCTCCCTTCCCCTCTC TTCCCCTCCTCTTCTCCCCTCCCCTCCCCCTCTCCTCCCTTCCTCGCCCC TCCCCTTTTTCTCTCTTCCCCTCCCTTTCCCACCCCTTCTCCTCCCCTCT TCCCTCTTTTCCCTCCCCTCCTTTTTTCCTCCCCTTCTTCTCCCCTCCCC TTCTCCTCTCCTCCCCTCCCCTCCCCTTTTCCACCCCTTTTCCTCTTCTT TTCTTCCTCTCCCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCCCCTCCCC TCTGCCTCTCCTCCCCTCCCCTTTTTCTCCCCTCCCCTCCCTGCCTCTTC TCCTTTCCTCCCTTCCCCTCCCCTCCCCTCTCCTTTCCCTCCCCTCCCCT CCCTTTCCTGCCCCTTCTCCTCACCTCTCTTCCCCTCCCCTCTCTTCCCC TCTCCTTTCCTCCC	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
FER_chr5_108742897_109201841	108930372	T T	TTCCCTCC others(781): Show TTCCCTCCCCTCTCCTCTCCCCTCCTTCCCCTCCCCTCTCCTCTCCCCTC CCCTCCCCCCCTTCCTCTGCCCTCCCTTCCCCTCCCCCCTCCTCCTCTCC TCTCCCCTCTTTTCCTCCCCTCCCCTTCTCCTCCCATCCCTTCCCTTATC CTCCCCTTCTCCTCCCCTCACCTTCTCCTCTCCTCCCCTCCCCTTCTCCT CTCCTCTCCTCCCCTCCCCTTCTCCTCTCCTCCTCTCACCTCCCTTCTCC TCCCCTCCCCTTCTCCTCTCCTCCCCTCCCCTTCTCCTCTCCTCCCCTTC TCTTCCCTTCCCCTCCCCTCCCCTTTTCCTCCCCTCCCTGCCCCTCCCCT CTCCTCCCGTCTCCTCCCTTCCCCTCTCTTCCCCTCCTCTTCTCCCCTCC CCTCCCCCTCTCCTCCCTTCCTCGCCCCTCCCCTTTTTCTCTCTTCCCCT CCCTTTCCCACCCCTTCTCCTCCCCTCTTCCCCTCTTTTCCCTCCCCTCC TTTTTTCCTCCCCTTCTTCTCCCCTCCCCTTCTCCTCTCCTCCCCTCCCC TCCCCTTTTCCACCCCTTTTCCTCTTCTTTTCTTCCTCTCCCCTCTCCTC CCCTCCCCTCTGCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCCCCTCCCC TTTTTCTCCCCTCCCCTCCCTGCCTCTTCTCCTTTCCTCCCTTCCCCTCC CCTCCCCTCTCCTTTCCCTCCCCTCCCCTCCCTTTCCTGCCCCTTCTCCT CACCTCTCTTCCCCTCCCCTCTCTTCCCCTCTCCTTTCC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0020 a0004c0012t0020	a0004c0012t0020g0032 a0004c0012t0020g0032	1	138	0.0073	788	c.123 others(809): Show c.1237-15754_1237-15753insTCCCCTCTCCTCTCCCCTCCTTCC CCTCCCCTCTCCTCTCCCCTCCCCTCCCCCCCTTCCTCTGCCCTCCCTTC CCCTCCCCCCTCCTCCTCTCCTCTCCCCTCTTTTCCTCCCCTCCCCTTCT CCTCCCATCCCTTCCCTTATCCTCCCCTTCTCCTCCCCTCACCTTCTCCT CTCCTCCCCTCCCCTTCTCCTCTCCTCTCCTCCCCTCCCCTTCTCCTCTC CTCCTCTCACCTCCCTTCTCCTCCCCTCCCCTTCTCCTCTCCTCCCCTCC CCTTCTCCTCTCCTCCCCTTCTCTTCCCTTCCCCTCCCCTCCCCTTTTCC TCCCCTCCCTGCCCCTCCCCTCTCCTCCCGTCTCCTCCCTTCCCCTCTCT TCCCCTCCTCTTCTCCCCTCCCCTCCCCCTCTCCTCCCTTCCTCGCCCCT CCCCTTTTTCTCTCTTCCCCTCCCTTTCCCACCCCTTCTCCTCCCCTCTT CCCCTCTTTTCCCTCCCCTCCTTTTTTCCTCCCCTTCTTCTCCCCTCCCC TTCTCCTCTCCTCCCCTCCCCTCCCCTTTTCCACCCCTTTTCCTCTTCTT TTCTTCCTCTCCCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCCCCTCCCC TCTGCCTCTCCTCCCCTCCCCTTTTTCTCCCCTCCCCTCCCTGCCTCTTC TCCTTTCCTCCCTTCCCCTCCCCTCCCCTCTCCTTTCCCTCCCCTCCCCT CCCTTTCCTGCCCCTTCTCCTCACCTCTCTTCCCCTCCCCTCTCTTCCCC TCTCCTTTCCTCCC	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
FER_chr5_108742897_109201841	108930372	T T	TTCCCTCC others(781): Show TTCCCTCCCCTCTCCTCTCCCCTCCTTCCCCTCCCCTCTCCTCTCCCCTC CCCTCCCCCCCTTCCTCTGCCCTCCCTTCCCCTCCCCCCTCCTCCTCTCC TCTCCCCTCTTTTCCTCCCCTCCCCTTCTCCTCCCATCCCTTCCCTTATC CTCCCCTTCTCCTCCCCTCACCTTCTCCTCTCCTCCCCTCCCCTTCTCCT CTCCTCTCCTCCCCTCCCCTTCTCCTCTCCTCCTCTCACCTCCCTTCTCC TCCCCTCCCCTTCTCCTGTCCTCCCCTCCCCTTCTCCTCTCCTCCCCTTC TCTTCCCTTCCCCTCCCCTCCCCTTTTCCTCCCCTCCCTGCCCCTCCCCT CTCCTCCCGTCTCCTCCCTTCCCCTCTCTTCCCCTCCTCTTCTCCCCTCC CCTCCCCCTCTCCTCCCTTCCTCGCCCCTCCCCTTTTTCTCTCTTCCCCT CCCTTTCCCACCCCTTCTCCTCCCCTCTTCCCCTCTTTTCCCTCCCCTCC TTTTTTCCTCCCCTTCTTCTCCCCTCCCCTTCTCCTCTCCTCCCCTCCCC TCCCCTTTTCCACCCCTTTTCCTCTTCTTTTCTTCCTCTCCCCTCTCCTC CCCTCCCCTCTGCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCCCCTCCCC TTTTTCTCCCCTCCCCTCCCTGCCTCTTCTCCTTTCCTCCCTTCCCCTCC CCTCCCCTCTCCTTTCCCTCCCCTCCCCTCCCTTTCCTGCCCCTTCTCCT CACCTCTCTTCCCCTCCCCTCTCTTCCCCTCTCCTTTCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp1 HG01071.hp1 others(57): Show HG00140.hp1 HG00735.hp1 HG01071.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01169.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp2 HG02055.hp2 HG02083.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02615.hp1 HG02647.hp2 HG02683.hp1 HG02735.hp2 HG02886.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03516.hp1 HG03540.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18941.hp1 NA18952.hp2 NA18961.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18972.hp2 NA18979.hp1 NA18990.hp2 NA18991.hp2 NA19001.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19043.hp1 NA19080.hp1 NA19082.hp2 NA20300.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0006 others(6): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0010 a0001c0011 a0001c0013 a0001c0014 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0018 a0001c0001t0021 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0033 a0001c0001t0036 a0001c0002t0001 a0001c0002t0022 a0001c0002t0025 a0001c0002t0029 a0001c0002t0034 a0001c0002t0041 a0001c0002t0048 a0001c0006t0002 a0001c0006t0010 a0001c0006t0047 a0001c0008t0002 a0001c0010t0038 a0001c0011t0035 a0001c0013t0014 a0001c0014t0001 a0003c0009t0002 a0003c0009t0008	a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0033 others(57): Show a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0033 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0098 a0001c0001t0001g0106 a0001c0001t0001g0135 a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0048 a0001c0001t0002g0054 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0093 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0115 a0001c0001t0004g0071 a0001c0001t0008g0047 a0001c0001t0009g0082 a0001c0001t0018g0034 a0001c0001t0021g0041 a0001c0001t0024g0043 a0001c0001t0026g0042 a0001c0001t0027g0100 a0001c0001t0033g0020 a0001c0001t0036g0025 a0001c0002t0001g0001 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0130 a0001c0002t0022g0110 a0001c0002t0025g0111 a0001c0002t0029g0137 a0001c0002t0034g0124 a0001c0002t0041g0126 a0001c0002t0048g0118 a0001c0006t0002g0007 a0001c0006t0010g0008 a0001c0006t0047g0004 a0001c0008t0002g0050 a0001c0010t0038g0133 a0001c0011t0035g0006 a0001c0013t0014g0095 a0001c0013t0014g0096 a0001c0014t0001g0026 a0003c0009t0002g0058 a0003c0009t0008g0056	60	138	0.4348	788	c.123 others(809): Show c.1237-15754_1237-15753insTCCCCTCTCCTCTCCCCTCCTTCC CCTCCCCTCTCCTCTCCCCTCCCCTCCCCCCCTTCCTCTGCCCTCCCTTC CCCTCCCCCCTCCTCCTCTCCTCTCCCCTCTTTTCCTCCCCTCCCCTTCT CCTCCCATCCCTTCCCTTATCCTCCCCTTCTCCTCCCCTCACCTTCTCCT CTCCTCCCCTCCCCTTCTCCTCTCCTCTCCTCCCCTCCCCTTCTCCTCTC CTCCTCTCACCTCCCTTCTCCTCCCCTCCCCTTCTCCTGTCCTCCCCTCC CCTTCTCCTCTCCTCCCCTTCTCTTCCCTTCCCCTCCCCTCCCCTTTTCC TCCCCTCCCTGCCCCTCCCCTCTCCTCCCGTCTCCTCCCTTCCCCTCTCT TCCCCTCCTCTTCTCCCCTCCCCTCCCCCTCTCCTCCCTTCCTCGCCCCT CCCCTTTTTCTCTCTTCCCCTCCCTTTCCCACCCCTTCTCCTCCCCTCTT CCCCTCTTTTCCCTCCCCTCCTTTTTTCCTCCCCTTCTTCTCCCCTCCCC TTCTCCTCTCCTCCCCTCCCCTCCCCTTTTCCACCCCTTTTCCTCTTCTT TTCTTCCTCTCCCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCCCCTCCCC TCTGCCTCTCCTCCCCTCCCCTTTTTCTCCCCTCCCCTCCCTGCCTCTTC TCCTTTCCTCCCTTCCCCTCCCCTCCCCTCTCCTTTCCCTCCCCTCCCCT CCCTTTCCTGCCCCTTCTCCTCACCTCTCTTCCCCTCCCCTCTCTTCCCC TCTCCTTTCCTCCC	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
GRAMD1B_chr11_123425269_123632767	123584374	T T	TGGGAGGG others(781): Show TGGGAGGGGGAATGGAGGTTGGGGGGAAAGGGTGTGGGGTGCGATTGGGG GAGGGGGAATGGAGGTTGGGGGGAAAGGGTGTGGGGTGCGATTGGGGGAG GGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGG AATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATG GAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGG TTGGGGGAAGGGGTGTGGGATGCGATTGGGGGAGGGGGAATGGAGGTTGG GGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGA AGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGG GGTGTGGGATGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGT GTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTG GGGTGCGGTTGGGGGAGAGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGG TGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCG ATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGATGCGATT GGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGG GAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGG GGGAATGGAGGTTGGGGAAGGGGTGTGGGGTGCGGTTGG	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	282	0.0036	788	c.684 others(801): Show c.684+66_684+67insGAAAGGGTGTGGGGTGCGATTGGGGGAGGGGG AATGGAGGTTGGGGGGAAAGGGTGTGGGGTGCGATTGGGGGAGGGGGAAT GGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAG GTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTG GGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGG AAGGGGTGTGGGATGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGG GGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTG TGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGG GATGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGGT GCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGGTGCG GTTGGGGGAGAGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGGTGCGATT GGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGG GAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGATGCGATTGGGGGAG GGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGG AATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATG GAGGTTGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGT TGGGGG	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GTPBP6_chrX_299759_323796	316000	G G	GACACACA others(781): Show GACACACACACACACACACACACACACACACACTAAATACATCCCGACAG GGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACA TCCCAGCAGGGACACAAACACATACACACGCAGACACACACACACACACA AACACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGAGAC ACACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACA AACACATACGCAGACACACACACACACACACACAGTAAATACATCCCGAC AGGGACAGACACACACACACAGACACACACACAGAGACACACACAAACAC AGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACA CACACACACACACACACACTAAATACATCCCGACAGGGACAGACACAGAC ACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCATGGACA CAAACACATACACACGCAGACACACACACACACACACAAACAGTAAATAC ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACAC AGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACA CACACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGAC ACACACACACAGACACACACACAGAGACACACACAAACACAGTAAACACA TCCCGGCAGGGACACAAACATACACACGCAGACACACAC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0109 a0002c0002t0001g0109	1	155	0.0065	788	c.488 others(803): Show c.488-702_488-701insGTGTGTGTCTGCGTGTGTATGTTTGTGTCC CTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTG TGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGAT GTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCC TGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGT ATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTC TGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGT GTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGAT GTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTG TCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTCTGC GTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTC TCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTA CTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCC CTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTG TGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
GTPBP6_chrX_299759_323796	316000	G G	GACACACA others(781): Show GACACACACACACACACACACACACACACACACTAAATACATCCCGACAG GGACAGACACAGACACACACACAGAGACACACACAAACACAGTAAACACA TCCCAGCAGGGACACAAACACATACACACGCAGACACACACACACACACA AACACACAGTAAATACATCCCGACAGGGACAGACACACACACACAGAGAC ACACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACA AACACATACGCAGACACACACACACACACACACAGTAAATACATCCCGAC AGGGACAGACACACACACACAGACACACACACAGAGACACACACAAACAC AGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACA CACACACACACACACACACTAAATACATCCCGACAGGGACAGACACAGAC ACACACACAGAGACACACACAAACACAGTAAACACATCCCAGCATGGACA CAAACACATACACACGCAGACACACACACACACACACAAACAGTAAATAC ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAAACAC AGTAAACACATCCCGGCAGGGACACAAACACATACACACGCAGACACACA CACACACACACACACACACACAGTAAATACATCCCGACAGGGACAGACAC ACACACACAGACACACACACACAGAGACACACACAAACACAGTAAACACA TCCCGGCAGGGACACAAACATACACACGCAGACACACAC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0132 a0002c0002t0001g0132	1	155	0.0065	788	c.488 others(803): Show c.488-702_488-701insGTGTGTGTCTGCGTGTGTATGTTTGTGTCC CTGCCGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTGTC TGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGT GTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGAT GTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCC TGTCGGGATGTATTTACTGTTTGTGTGTGTGTGTGTGTGTCTGCGTGTGT ATGTGTTTGTGTCCATGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTC TGTGTGTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGT GTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCGGGAT GTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTGTGTGTG TCTGTCCCTGTCGGGATGTATTTACTGTGTGTGTGTGTGTGTGTGTCTGC GTATGTGTTTGTGTCCCTGCCAGCATGTGTTTACTGTGTTTGTGTGTGTC TCTGTGTGTGTCTCTGTGTGTGTGTGTCTGTCCCTGTCGGGATGTATTTA CTGTGTGTTTGTGTGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCC CTGCTGGGATGTGTTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTG TGTCTGTCCCTGTCGGGATGTATTTAGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
IFFO2_chr1_18899280_18961676	18925848	A A	ATTGGTTG others(781): Show ATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGT TGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGTTGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGG ATGGTTGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGAGGGA TGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGA TGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATG GTTGGATGGATGGATGGATGGATGGATGGATGGATTGGT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0112 a0001c0001t0004g0112	1	376	0.0027	788	c.666 others(805): Show c.666-4728_666-4727insACCAATCCATCCATCCATCCATCCATCC ATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCAT CCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCA TCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CAACCAATCCATCCCTCCATCCATCCATCCATCCATCCAACCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATC CATCCAACCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCC ATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAA CCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCAACCAA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
LAMA2_chr6_128878138_129521566	129385145	G G	GGAAAAAG others(781): Show GGAAAAAGGAAGGAAGGAAGGAGGGTAAGGGAGGGAGGGGGAAGGAAGGG AGGAAAGGAGGAAGAGAAGGATGAAGGGAGGAAGGAAGGAAGGGGAAGGA AGGAGGAAGGGAGGGAGGGAAGGAGGGAAGAAGGGAGGAAGGGAAGGAGG GAAGGTGGAAGGAAGGAAGGAAAAGAAGGAAGGAAGGAGGGAGGGAAGCA GGAAGGAAGGAGGGAGAGGAAGGAACAGAAAGGAAAAAAAGGAGGGGAGG GAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAGGGAGGGAGGGAG GGAGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGA AGAAAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAAGGAAGG AAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAG GGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGGA GGGAGGAAGGAAGGAACGAAGGAAGAAAGAAAGGAGGGAGGGAGGGAGGA AGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGGAGGGAGG AAGGAAGGAACGAAGGAAGAAAGAAAGGAGGGAGGGAGGGAGGAAGGAAG GAACAAAGGAAGGAAGAAAGGAAGGAAGGAGGGAGGGAGGGAGGAAGGAG GAAAAGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGAAAGGGCAGAAGG AAGGAAGGGGGAAGGGAGGGAAGAAAGGAAGGGAAAGGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	88	0.0114	788	c.507 others(807): Show c.5071+1913_5071+1914insAAAAAGGAAGGAAGGAAGGAGGGTAA GGGAGGGAGGGGGAAGGAAGGGAGGAAAGGAGGAAGAGAAGGATGAAGGG AGGAAGGAAGGAAGGGGAAGGAAGGAGGAAGGGAGGGAGGGAAGGAGGGA AGAAGGGAGGAAGGGAAGGAGGGAAGGTGGAAGGAAGGAAGGAAAAGAAG GAAGGAAGGAGGGAGGGAAGCAGGAAGGAAGGAGGGAGAGGAAGGAACAG AAAGGAAAAAAAGGAGGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGA AAGAAAGGAGGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAG GAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGGAGGGA GGAAGGAAGGAACGAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGG AGGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAG AAAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAAGGAAGAAA GAAAGGAGGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAA AGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAAGGAAGAAAGAAAGG AGGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGGAAGGAAG GAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGGAGGGAGGAA GGAAGGAAGAAAGGGCAGAAGGAAGGAAGGGGGAAGGGAGGGAAGAAAGG AAGGGAAAGGAG	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	35/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LHFPL3_chr7_104323603_104913561	104824178	A A	ATATATAA others(781): Show ATATATAATATATATATTATATATTATATATATAATATATATATTATATA TTATAATATATAATATATAATATATATTATATATATTATATTATATATTA TATATATAATATATTATATATTATATATATATTATATAATATATTATATA TTATATATATATTATATTATATATTATATATAATTATATATATTTTATAT ATTATATATTATATATTATATATTATATATTATATATATTATATATTATA TATTATATATTATATATTATATATATTATATATTATATATTATATTTTAT ATATATTATATATTATATATACAATTATATATATTATATATATTATATAT TATATATATTATATATTATATAATATATTATATATAATATATATTATATA TTATATATTATATAATATATATATAATATATATTATATATTATATAATAT ATTATATATAATATATATTATATATTATATATTATATAATATATAATATA TAATATATATTATATATATATTATATAATATATTATATATATAATATATT ATATAATATATTATATATATAATATATATTATATATAATATATATAATTG TATATATAATATATAATATATAATATATAATATATATAATATATAATATA TAATATATATAATATATAATATATAATATATAATATATATAATATATAAT ATATAATATATAATATATAATATATAATATATAATATATAAAATATATAT ATAAAATATATTATGTATTATATATTATATAATATATTG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	86	0.0116	788	c.683 others(807): Show c.683-81995_683-81994insATTATATATTATATATATAATATATA TATTATATATTATAATATATAATATATAATATATATTATATATATTATAT TATATATTATATATATAATATATTATATATTATATATATATTATATAATA TATTATATATTATATATATATTATATTATATATTATATATAATTATATAT ATTTTATATATTATATATTATATATTATATATTATATATTATATATATTA TATATTATATATTATATATTATATATTATATATATTATATATTATATATT ATATTTTATATATATTATATATTATATATACAATTATATATATTATATAT ATTATATATTATATATATTATATATTATATAATATATTATATATAATATA TATTATATATTATATATTATATAATATATATATAATATATATTATATATT ATATAATATATTATATATAATATATATTATATATTATATATTATATAATA TATAATATATAATATATATTATATATATATTATATAATATATTATATATA TAATATATTATATAATATATTATATATATAATATATATTATATATAATAT ATATAATTGTATATATAATATATAATATATAATATATAATATATATAATA TATAATATATAATATATATAATATATAATATATAATATATAATATATATA ATATATAATATATAATATATAATATATAATATATAATATATAATATATAA AATATATATATAAAATATATTATGTATTATATATTATATAATATATTGTA TATAATATATAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LRRIQ1_chr12_85031351_85250105	85112497	T T	TAAGAGTT others(781): Show TAAGAGTTTTGCTTCTAAATCAAAACCACTATGAGATATCATCTCACACC AGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAG GATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTA GTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACT AGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATG AGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCG GCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAAT GATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATG CAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAA TTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACA CCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGAC ACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGG GGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGT GGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCA CAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAA AAGAAGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG03098.hp1 HG03516.hp2 HG01256.hp2 HG03098.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0155 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0155	3	228	0.0132	788	c.337 others(807): Show c.3377+5897_3377+5898insAAATCAAAACCACTATGAGATATCAT CTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTG CTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACT GTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGAT CTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATA CCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGT TTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGT CCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGA ATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACAT GGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAA ACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATC ACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTC GGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGAC ACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACT AACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAA AAAAAAAAAAGAAGTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG AGTTTTGCTTCT	LRRIQ1	ENSG00000133640.20	transcript	ENST00000393217.7	protein_coding	15/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCTCT others(781): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTTTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCTCTCCTCCGCTCCGCTCCCCTCTCCTCCACTCCTCT CCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCCCTCCCTTCCCCTCTCCTC CCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGC TCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCC TCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCC TCTCCTCCCCTCCTCTCTCCTCCCCTCCGCTCCCCTCCCCTCTCCTCCGC TCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCC TCTCCTCTGCTCCTCTCCTCTCCCTTCTCCTCCCCTCCTCTCTCCTCCCC TCCCCTCTCCTCCGCTCCCCTCCCCTCTCCTCCACTCCTCTCCCCTCCCC TCCTCTCTCCTCCACTCCTCTCCCCTCCTCTCCTCTCTCCTCCCCTCCCC TCTCCTCCCCTCCCCACCCCTCCCCTCCCCTCCTTTCTCCTCCCCTCCCC ACGGCTCCCCTCCCCTCCTTTCTCCTCCCTTGCCGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	318	0.0031	788	c.-49 others(799): Show c.-4998_-4997insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGGGGAGCGGAGGAGA GGGGAGGGGAGGAGAGAGGAGGGGAGGAGAAGGGAGAGGAGAGGAGCAGA GGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGA GAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGGGAGGAGAGAGGAGGGGA GGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGGAGA GAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGA GGGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGG GAGGGGAGGAGAGGGGAAGGGAGGGAGAGGAGGGGAGGAGAGGGGAAGGG AGGGGAGAGGAGTGGAGGAGAGGGGAGCGGAGCGGAGGAGAGAGGGGAGG GGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGG GGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAAAGAGGAGGGGAGG GGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGG GGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGACAGAGGAGGAGAGA GGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
MMD2_chr7_4900998_4964187	4960054	G G	GTGGGAAG others(781): Show GTGGGAAGTGGGGGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGAGGGAG TGGGAAGTGGGGGTGTTGGGGGGGGAGTGAGGGGGTTAGTGGGAAGAGAG GGACTTGGAGGTTGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTGGGG GACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGGGGGGAGTGAGG GGGTTAGTGGGAAGAGAGGGACTTGGAGGTTGGGGGAGTGGGAAGTGGGG GTGTTGGAGGGAGTGGGGGACCTGGGGGTGGGGGGAGTGGGAAGTGGGGG TGTTGGGGGGGAGTGAGGGGGTTAGTGGGAAGAGAGGGACTTGGAGGTTG GGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGG GGGAGTGGGAAGTGGGGGTGTTGGGGGGGAGTGAGGGGGTTAGTGGGAAG AGAGGGACTTGGAGGTTGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGT GGGGGACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTG GGGGACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTGG GGGACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTGGG GGACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTGGGG GACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGGGGGGGAGTGAG GGGGGTTAGTGGGAAGAGAGGGACTTGGAGGTTGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0123 a0001c0001t0017g0123	1	382	0.0026	788	c.-10 others(799): Show c.-1038_-1037insTCCCCCAACCTCCAAGTCCCTCTCTTCCCACTAA CCCCCCTCACTCCCCCCCCAACACCCCCACTTCCCACTCCCCCCACCCCC AGGTCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCCACCCCCA GGTCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCCACCCCCAG GTCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCCACCCCCAGG TCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCCACCCCCAGGT CCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCAACCTCCAAGTC CCTCTCTTCCCACTAACCCCCTCACTCCCCCCCAACACCCCCACTTCCCA CTCCCCCCACCCCCAGGTCCCCCACTCCCTCCAACACCCCCACTTCCCAC TCCCCCAACCTCCAAGTCCCTCTCTTCCCACTAACCCCCTCACTCCCCCC CAACACCCCCACTTCCCACTCCCCCCACCCCCAGGTCCCCCACTCCCTCC AACACCCCCACTTCCCACTCCCCCAACCTCCAAGTCCCTCTCTTCCCACT AACCCCCTCACTCCCCCCCAACACCCCCACTTCCCACTCCCCCCACCCCC AGGTCCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCAACCTCCA AGTCCCTCTCTTCCCACTAACCCCCTCACTCCCCCCCCAACACCCCCACT TCCCACTCCCTCCACCCCCAGGTCCCCCACTCCCTCCAACACCCCCACTT CCCA	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding		868		chr7	TogoVar
MYRIP_chr3_39804609_40265321	40084296	T T	TATAATAC others(781): Show TATAATACACATCTATGTATTATATATCGATATATAATACACATCTATGT ATTATATATCTATAATACACATCTATGTATTATATATCGATAGATAATAC ACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATATA TCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACACAT CTATGTATTATATATCGATAGATAATACACATCTATGTATTATATATCGA TAGATAATACACATCTATGTATTATATATCGATAGATAATACACATCTAT GTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGA TAATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTAT TATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAAT ACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATA TATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACAC ATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATATATC GATAATACACATCTATGTATTATATATCGATAATACACATCTATGTATTA TATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATAC ACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATATA TCGATAGATAATACACATCTATGTATTATATATCGATAG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0036 a0001c0014t0001g0036	1	170	0.0059	788	c.332 others(807): Show c.332+40056_332+40057insTATAATACACATCTATGTATTATATA TCTATAATACACATCTATGTATTATATATCGATAGATAATACACATCTAT GTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGA TAATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTAT TATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAAT ACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATA TATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACAC ATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATATATC GATAGATAATACACATCTATGTATTATATATCGATAGATAATACACATCT ATGTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATA GATAATACACATCTATGTATTATATATCGATAGATAATACACATCTATGT ATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAATAC ACATCTATGTATTATATATCGATAATACACATCTATGTATTATATATCGA TAGATAATACACATCTATGTATTATATATCGATAGATAATACACATCTAT GTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGA TAATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTAT TATATATCGATA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCTCCTCT others(781): Show TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCACCC TCCCCCCCTCCCCTTCCCCTTCCTCCTCTCCTCTCCTCTCCTCTCCTCTC CTCTCCTCTCCTCTCCCACCCTCCCCCCCTCCCCTTCCCCTTCCCCTCCC CTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCC CCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCC TTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0013 a0001c0001t0037g0013	1	326	0.0031	788	c.433 others(805): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAGAGGG AAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGG GGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGAGGGGGGGAGGGTGGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGGAAGGGGAAGG GGAGGGGGGGAGGGTGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(781): Show TCCTCTCCTCTCCTCTCCTCCCTCTCCTCCTTCCTCTCCTCTCCTCTCCT CTCTCTTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCTCT CCTCTCCTCTCCTCTCCTCCCTCTCCTTCTCCTCTCCTCTCCTCTCCCTC TCCTCTCCTCCTCCCTCTCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCT CTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCT CTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTGTCCCCTCCCCTCCCACCCTCCCCCC CTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCCTCCCCCTTC CCCTTCCCCCTCCCCTCCCCTCCCCTTCCCCTTCCCCTCCCCTCCCCCTT CCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCCTTCCC CTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0019 a0001c0001t0028g0019	1	326	0.0031	788	c.433 others(805): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGAGGGGAGGGG AGGGGGAAGGGGAAGGGGGAGGGGGAGGGGAAGGGGAAGGGGGAGGGGAG GGGAAGGGGAGGGGGGGAGGGTGGGAGGGGAGGGGACAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGAGAGGGA GGAGGAGAGGAGAGGGAGAGGAGAGGAGAGGAGAAGGAGAGGGAGGAGAG GAGAGGAGAGGAGAGGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAAGAGAGAGGAGAGGAGAGGAGAGGAAGGAGGAGAGGGAGGAGAGG AGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
OPRPN_chr4_70392940_70415195	70413191	A A	ATGTATAT others(781): Show ATGTATATATATGTGTGTATATATACATATATGTATATGTATATGTGTAT ATATGCATATATGTATATGTATATGTGTATATATGCATATATGTATATGC ATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATAT ACATATATATGTATATGCATATGTGTGTATATATACATATATATGTATAT GCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATAT ATACATATATATGTATATGCATATGTGTGTATATATACATATATATGTAT ATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTAT ATATACATATATATGTATATGCATATGTGTGTAAATATACATATATATGT ATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGT ATATATACATATATATGTATATGCATATGTGTGTATATATACATATATAT GTATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGT GTATATATACACATATACATATATATGCATATGTGTGTATATATACATAT ACATATATATGCATATATATGTATATATATACATATATATGCATATATGT GTATACATATACATATATATGCATATATGTGTATATATACACATATATAT GTGTGTGTATATATATGTGTGTGTATATATACACATATATATGTGTGTGT ATATATATGTGTGTGTATATATACACATATATATGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01081.hp1 HG02258.hp2 others(9): Show HG01070.hp2 HG01081.hp1 HG02258.hp2 HG02630.hp2 HG02818.hp1 HG02895.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03486.hp2 HG03579.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0035 a0001c0001t0001g0007 a0001c0001t0001g0035	12	456	0.0263	788	c.31 others(799): Show c.3116_*3117insTGTATATATATGTGTGTATATATACATATATGTA TATGTATATGTGTATATATGCATATATGTATATGTATATGTGTATATATG CATATATGTATATGCATATGTGTGTATATATACATATATATGTATATGCA TATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATA CATATATATGTATATGCATATGTGTGTATATATACATATATATGTATATG CATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATA TACATATATATGTATATGCATATGTGTGTATATATACATATATATGTATA TGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTAAA TATACATATATATGTATATGCATATGTGTGTATATATACATATATATGTA TATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTA TATATACATATATATGTATATGCATATGTGTGTATATATACATATATATG TATATGCATATGTGTGTATATATACACATATACATATATATGCATATGTG TGTATATATACATATACATATATATGCATATATATGTATATATATACATA TATATGCATATATGTGTATACATATACATATATATGCATATATGTGTATA TATACACATATATATGTGTGTGTATATATATGTGTGTGTATATATACACA TATATATGTGTGTGTATATATATGTGTGTGTATATATACACATATATATG TGTG	OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding		2997		chr4	TogoVar
OPRPN_chr4_70392940_70415195	70413191	A A	ATGTATAT others(781): Show ATGTATATATATGTGTGTATATATACATATATGTATATGTATATGTGTAT ATATGCATATATGTATATGTATATGTGTATATATGCATATATGTATATGC ATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATAT ACATATATATGTATATGCATATGTGTGTATATATACATATATATGTATAT GCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATAT ATACATATATATGTATATGCATATGTGTGTATATATACATATATATGTAT ATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTAT ATATACATATATATGTATATGCATATGTGTGTAAATATACATATATATGT ATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGT ATATATACATATATATGTATATGCATATGTGTGTATATATACATATATAT GTATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGT GTATATATACACATATACATATATATGCATATGTGTGTATATATACATAT ACATATATATGCATATATGTGTATATATATACATATATATGCATATATGT GTATACATATACATATATATGCATATATGTGTATATATACACATATATAT GTGTGTGTATATATATGTGTGTGTATATATACACATATATATGTGTGTGT ATATATATGTGTGTGTATATATACACATATATATGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	456	0.0022	788	c.31 others(799): Show c.3116_*3117insTGTATATATATGTGTGTATATATACATATATGTA TATGTATATGTGTATATATGCATATATGTATATGTATATGTGTATATATG CATATATGTATATGCATATGTGTGTATATATACATATATATGTATATGCA TATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATA CATATATATGTATATGCATATGTGTGTATATATACATATATATGTATATG CATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATA TACATATATATGTATATGCATATGTGTGTATATATACATATATATGTATA TGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTAAA TATACATATATATGTATATGCATATGTGTGTATATATACATATATATGTA TATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTA TATATACATATATATGTATATGCATATGTGTGTATATATACATATATATG TATATGCATATGTGTGTATATATACACATATACATATATATGCATATGTG TGTATATATACATATACATATATATGCATATATGTGTATATATATACATA TATATGCATATATGTGTATACATATACATATATATGCATATATGTGTATA TATACACATATATATGTGTGTGTATATATATGTGTGTGTATATATACACA TATATATGTGTGTGTATATATATGTGTGTGTATATATACACATATATATG TGTG	OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding		2997		chr4	TogoVar
PAK2_chr3_196734857_196837647	196811357	C C	CCCTTCCT others(781): Show CCCTTCCTTCCCTCCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTCCC TTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCT CCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTC CCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCTTCC TTCCTTTCCTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTTCCTT TCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCT TCCCTCCCTTCCTTCCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTC CCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCC TTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCT CCCTTCCTTCCCTCCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTC CTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCCTTCCCTCCC TCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTTCCCTTCCCTCCCT TCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTC CCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCC CTCCCTTCCCTTCCCTTCCTTCCCTTCCTTCCTTCCCTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0118 a0001c0001t0004g0118	1	178	0.0056	788	c.773 others(803): Show c.773+710_773+711insTTCCCTCCCTTCCTTCCTTCCCTCCCTTCC TTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTT CCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTC CTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCC TTCCCTTCCTTCCTTCCTTTCCTTCCTTCCTTCCTTCCCTTCCCTCCCTT CCTTCCCTTCCTTTCCTTCCTTCCTTCCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCT TCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCCTTCCCTC CCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCC TTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTT CCTTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTTCCTTCCTTCCTTCC CTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCT TCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCTT CCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTCCCTTC CCTCCCTTCCTTCCCTTCCTTTCCTTCCTTTCCTTCCTTCCTTCCCTTCC CTCCCTTCCTTCCCTCCCTTCCCTTCCCTTCCTTCCCTTCCTTCCTTCCC TTCCTTCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDCD6_chr5_266646_319974	318246	C C	CACCTCCC others(781): Show CACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACC CTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCC CTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGC CCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCACCCTCCATCT GCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCAT CTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCC TGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCC ACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCC CCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCACCT CCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTT TACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCC TTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCC GCACCCTGCACCTCCCACCCTTACCCTGCACCTCTCCCCATCTTTTACCT CCCCCCACCCTCCATCTCCCCCAACCCTGCACCTCCCCCATCCTTCACCT CCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCT GCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0034 a0001c0002t0001g0034	1	360	0.0028	788	c.37 others(799): Show c.3731_*3732insACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTC ATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCC CCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCC CCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCC CCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCT CCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGC ACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCAT CCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCA ATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCC CCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCA CCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTG CACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACC CTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCT CCCCATCTTTTACCTCCCCCCACCCTCCATCTCCCCCAACCCTGCACCTC CCCCATCCTTCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCA CCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATC CTTT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3273		chr5	TogoVar
PLCL2_chr3_16879955_17095604	16980138	G G	GGGGGGGC others(781): Show GGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGT GGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCG GGGGGGCTGACCCCACCACTTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGTGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGGCGCCCCTCA CTTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCT CCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGACTGACCCCCCCACCTC CATCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGAGCGGCTGGCCGGGCAGAGCGGCTCCTCACTTCCCAGTA GGGGTGGCCGGCCAGAGGCGCCCCTCACTTCCCGGACGGGGCAGCTGGCC GGGCAGGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACTTCCCTCCCAGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCT GGCCGGGCGGGAGGCTGACCCCCCCCACCTCCCTCCTGGACGGGGCGACT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCACACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCTCCCGGACGGGGCAGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0173 a0001c0004t0002g0173	1	250	0.0040	788	c.328 others(807): Show c.328-29521_328-29520insCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTG GCCGGGCGGGGGGGCTGACCCCACCACTTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGTGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGGC GCCCCTCACTTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGACTGACCCC CCCACCTCCATCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGAGCGGCTGGCCGGGCAGAGCGGCTCCTCACT TCCCAGTAGGGGTGGCCGGCCAGAGGCGCCCCTCACTTCCCGGACGGGGC AGCTGGCCGGGCAGGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACTTCCCTCCCAGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACG GGGCGGCTGGCCGGGCGGGAGGCTGACCCCCCCCACCTCCCTCCTGGACG GGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCACACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGG GGGCTGACCCCC	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCL2_chr3_16879955_17095604	16980138	G G	GGGGGGGC others(781): Show GGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGT GGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCG GGGGGGGCTGACCCCACCACTTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGTGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGGCGCCCCTC ACTTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCT CCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGACTGACCCCCCCACCTC CATCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGAGCGGCTGGCCGGGCAGAGCGGCTCCTCACTTCCCAGTA GGGGTGGCCGGCCAGAGGCGCCCCTCACTTCCCGGACGGGGCAGCTGGCC GGGCAGGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACTTCCCTCCCAGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCT GGCCGGGCGGGAGGCTGACCCCCCCCACCTCCCTCCTGGACGGGGCGACT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCACACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCTCCCGGACGGGGCAGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0176 a0001c0004t0001g0176	1	250	0.0040	788	c.328 others(807): Show c.328-29521_328-29520insCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTG GCCGGGCGGGGGGGGCTGACCCCACCACTTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGTGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGG CGCCCCTCACTTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGACTGACCCC CCCACCTCCATCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGAGCGGCTGGCCGGGCAGAGCGGCTCCTCACT TCCCAGTAGGGGTGGCCGGCCAGAGGCGCCCCTCACTTCCCGGACGGGGC AGCTGGCCGGGCAGGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACTTCCCTCCCAGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACG GGGCGGCTGGCCGGGCGGGAGGCTGACCCCCCCCACCTCCCTCCTGGACG GGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCACACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGG GGGCTGACCCCC	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLEKHG4B_chr5_87168_194966	165509	G G	GGCTCACA others(781): Show GGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACG GGGCGGGGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCT CTGATGTGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACT AATGCTCTGACGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCT CACACAGTAATGCTGTGACGGGGCGGAGCTCACACTAATGCTGTGACGGG GCGGGGCTTACACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCT CTGACGGGGCAGGGCTCACAGTAATGCTCTGACAGGGCGGAGCTCACACT AATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCT CACACTAATGCTGTGACGGGGCGGAGCTCACACAGTAATGCTGTGACGGG GCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTACTCCTCT GACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAA TGCTCTGACGGGGCGGGGCTCACTAATGCTCTGACGGGGCGGGGCTCACA CTAACGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAG CTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGG GCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCT GATGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0076 a0001c0015t0076	a0001c0015t0076g0154 a0001c0015t0076g0154	1	210	0.0048	788	c.347 others(807): Show c.3476+1996_3476+1997insGTAATCCTCTGACGGGGCGGGGCTCA CACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGATGTGGCGG AGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACG GGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACAGTAATG CTGTGACGGGGCGGAGCTCACACTAATGCTGTGACGGGGCGGGGCTTACA CACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCAG GGCTCACAGTAATGCTCTGACAGGGCGGAGCTCACACTAATGCTCTGACG GGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCT GTGACGGGGCGGAGCTCACACAGTAATGCTGTGACGGGGCGGAGCTCACA CTAATGCTCTGACGGGGCGGGGCTCACAGTACTCCTCTGACGGGGCGGAG CTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGG GCGGGGCTCACTAATGCTCTGACGGGGCGGGGCTCACACTAACGCTCTGA CGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAGCTCACACTAATG CTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAGCTCACA CTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGATGGGGCGGGG CTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGG GCGGGGCTCACA	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(781): Show GTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGT GGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATG GGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTGATGATGATGGT GGTGGTGGTGATAATGGTGATGGTGGTGATGGTGGTGGTAATGGTGATGG TGATGATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGG TAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGGTG GTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGT GATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGG TGGTGGTAATGATGATGGTGATGGTGATGATGGTGATGGTGATGATGATG GTGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGT GGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGG TAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTG ATGGTGATGATGATGGTGATGGTGATGGTGGTGGTGGTGATAATGGTGAT GGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGA TGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp2 HG01346.hp2 HG01258.hp2 HG01346.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0027 a0003c0008t0001g0114 a0003c0008t0001g0027 a0003c0008t0001g0114	2	374	0.0054	788	c.-46 others(799): Show c.-4663_-4662insTGATGATGGTGATGGTGATGATGGTGGTGGTGGT GATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTG ATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGAT GGTGATGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGATGGTGG TGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGTGATAA TGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATG GTGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGT GGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGG TAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTG ATGGTGATGATGATGGTGATGGTGATGGTGGTGGTGGTGATAATGGTGAT GGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGA TGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTG ATGGTGATGATGGTGATGGTGATGATGATGGTGATGGTGATGGTGGTGGT GGTGATAATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGA TGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTG GTAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
RASA3_chr13_113972783_114137623	114010763	G G	GGAGGGGA others(781): Show GGAGGGGAAGGCGTGGGGAGGAGGGGAAGGCATGGGGAGGAGGGGGGCCA CATGGGGAGGAGCGGGCCGCGAGGGGAGGAGGGGGGCCGCGTGGGGAGGA GGGGGCTGTGAGGAGAGGAGGGGGGCCCCGTGGGGAGGAGGGGAAGGCTT GGGGAGGAGGGGGGCCGCGAGGGGAGGAGGGAGCCGCGTGGGGAGGAGGG GGCCACATGGGGAGGAGGCGCCGCGTGGGGAGGAGGGGGCCGTGAGGAGA GGAGGGGGGCCCCGTGGGGAGGAGGGGAAGGCGTGGGGAGGAGGGGGGCG CGTGGGGAGGAGGGGGGGCCGCGTGGGGAGGAGGCGCCGTGTGGGGGAGG AGGGGGCCGCGAGGGGGAGGAGGGGGGCCGCGTGGGGAGGAGAGGGCCGC GTGGGGAGGAGGGGGCCCGCGTGGGGAGGAGAGGGCCGCGTGGGGAGGAG GGGGCCGCGTGGGGAGGAGGCGCCGTGTGGGGAGGAGGGGGCCGCGTGGG GAGGAGGGGGCCGCGTGGGGAGGAGGGGGGCCGCGTGGGGAGGAGGCGCC GTGTGGGGAGGAGGGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGG AGGGGCCGCGCGTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGGGGGCCGC GTGGGGAGGAGGGGGCCGCGAGGGGGAGGAGGGGGCCGCGTGGGGAGGAG GGGGGCCGCGTGGGGAGGAGGGGGGCCGCGAGGGGAGGAGGGGGGCCGCG TGGGGAGGAGGGGTGGCCGCGTGGGGAGGAGGGGGCCGC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0015 a0001c0005t0001g0015	1	67	0.0149	788	c.159 others(805): Show c.1590+407_1590+408insGCGGCCCCCTCCTCCCCACGCGGCCACC CCTCCTCCCCACGCGGCCCCCCTCCTCCCCTCGCGGCCCCCCTCCTCCCC ACGCGGCCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCCTCGCGGCCCC CTCCTCCCCACGCGGCCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCAC GCGCGGCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCACGCGGCCCCCCT CCTCCCCACACGGCGCCTCCTCCCCACGCGGCCCCCCTCCTCCCCACGCG GCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCACACGGCGCCTCCTCCC CACGCGGCCCCCTCCTCCCCACGCGGCCCTCTCCTCCCCACGCGGGCCCC CTCCTCCCCACGCGGCCCTCTCCTCCCCACGCGGCCCCCCTCCTCCCCCT CGCGGCCCCCTCCTCCCCCACACGGCGCCTCCTCCCCACGCGGCCCCCCC TCCTCCCCACGCGCCCCCCTCCTCCCCACGCCTTCCCCTCCTCCCCACGG GGCCCCCCTCCTCTCCTCACGGCCCCCTCCTCCCCACGCGGCGCCTCCTC CCCATGTGGCCCCCTCCTCCCCACGCGGCTCCCTCCTCCCCTCGCGGCCC CCCTCCTCCCCAAGCCTTCCCCTCCTCCCCACGGGGCCCCCCTCCTCTCC TCACAGCCCCCTCCTCCCCACGCGGCCCCCCTCCTCCCCTCGCGGCCCGC TCCTCCCCATGTGGCCCCCCTCCTCCCCATGCCTTCCCCTCCTCCCCACG CCTTCCCCTC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	16/23			chr13	TogoVar
SHROOM2_chrX_9781429_9954443	9792159	T T	TAGAATAG others(781): Show TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0063 a0002c0002t0002g0063	1	256	0.0039	788	c.165 others(805): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPAAR_chr9_35904490_35916686	35914283	A A	AGTGTGTG others(781): Show AGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAG TGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTAAGCTGTATGTGT GTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTAT GTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTAT GTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTT GTATGTGTGTAGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGT ATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGTGTAAG CTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTG TGTGTAAGTTGTATGTGTGTAGTGAGTGTGTTTTTGTATGCTGTGGTGTG TGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGG TGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCT GTGGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCT GTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTA TGCTGTGGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTA TGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0003 a0001c0001t0015g0003	1	420	0.0024	788	c.35 others(799): Show c.3592_*3593insGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAA GTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTGTGGTGTGTGT GTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGT GTGTGTAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGT GTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTG GTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTTTTTGTATGCTGTGGT GTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTTTGCTG TGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTAT GCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGAGTGTGTGTGTTTTT GTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTTTTT GTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGT TTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGT GTGTTTTTGTATGCTGTGGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGT GTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGT GTGTGTGTTTTTGTATGCTGTGGTGTGTAAGTTGTATGTGTGTAGTGAGT GTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGT GAGT	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2598		chr9	TogoVar
SPIRE2_chr16_89823475_89876319	89852416	C C	CCCAGATC others(781): Show CCCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCC TGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCCTGGCCCATCTT CCATCCTCCCTCCACCCCCCGGATCCCCTGGCCCATCTTCCGTCCTCTCC CCACCCCCTGGATCCCATGGCCCATCTTCCATCCTCCCCCAACCCCCCAG ATCCCCTGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGC CCGTCATCCGTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCCA TCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCT CACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGC CCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCG TCCTCCCTCTCACCCTCAAGATCCCATGGCCCATCTTCCATCCTCCCCCC ACCCCCCAGATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCCCCAGAT CCCCTGGCCCATCTTCCATCCTCCCCCCACCCACCAGATCCCATGGCCCA TCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCT CCCCCCACCCCCCAGATCCCCTGGCCCATCTTCCATCCTCCCCCAACCCG CCAGATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0197 a0004c0004t0001g0197	1	356	0.0028	788	c.645 others(805): Show c.645+1785_645+1786insCCCCCACCCCCCAGATCCCCTGGCCCAT CTTCCATCCTCCCCCCACCCCCCAGATCCCCTGGCCCATCTTCCATCCTC CCTCCACCCCCCGGATCCCCTGGCCCATCTTCCGTCCTCTCCCCACCCCC TGGATCCCATGGCCCATCTTCCATCCTCCCCCAACCCCCCAGATCCCCTG GCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCATC CGTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCCATCCTCCCT CTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCC GCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATG GCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTC CGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCT CTCACCCTCAAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCA GATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCCTGGC CCATCTTCCATCCTCCCCCCACCCACCAGATCCCATGGCCCATCTTCCAT CCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCCCCCCAC CCCCCAGATCCCCTGGCCCATCTTCCATCCTCCCCCAACCCGCCAGATCC CCTGGCCCATCTTCCATCCTCCCCCCACCCACCAGATCCCATGGCCCATC TTCCATCCTC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SYNE3_chr14_95402266_95521650	95419899	G G	GGTGGTGG others(781): Show GGTGGTGGTCGTGATGGTGAGGGTGATGGTGTTAAGGATGATGGTGATGG TGGTGGTGATGGTGATAGTGATGATGATGGTGGAGGTAGAGATGGTGGTG GTGATGGCGAGGGTAATTGTGGTAAGGATGATGGTGATGGTGATGTGGTG GTGATGGTGGTGGTGATGGTGATAGTAACGACGATGGTGGAGGTAGAGAT GGTGGTGGTGGTGATGGCGAGGGTAATTGTGGTAAGGATGATTGTGATGG TGATGGTGGTGGTGATGGTGAGGGTGATGGTGGTAAGGACGATGGTGATG GTGGTGATGGTGATAGTGATGATGATGGTGGAGGTAGAGATGGTGGTGGT GATGGCGAGGGTAATTGTGGTAAGGATGATGGTGATGGTGATGGTGGTGG TGATGGTGATAGTAACGATGATGGTGGAGGTAGAGATGGTGGTGGTGGTG ATGGCGAGGGTAATGGTGGTAAGGATGATTGCGATGGTGATGGTGGTGGT GATGGTGAGGGTGATGGTGGTAAGGATGATGGTGATGGTGGTGATGGTGA TAGTGATGATGATGGAGGTAGAGATGGTGGTGGTGATGGTGAGGGTGATA GTGGTAAGGATGATGGTGATGGTGATGGTGGTGGTGATGGTGATAGTGAT GGTGATGGAGGTAGAGATAGTGGTGGTGGTGATGGTGAGGGTAATGGTGG TAAGGATGACGGTGGTGGTGATGGTGGTGGTGGTGATGGTGAGGGCAATG GTGTTAAGGATGATGGTGATGGTGGTGGTGATGGTGGTA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02895.hp1 HG02896.hp2 HG01891.hp2 HG02895.hp1 HG02896.hp2	a0001 a0001	a0001c0011 a0001c0062 a0001c0011 a0001c0062	a0001c0011t0057 a0001c0062t0211 a0001c0011t0057 a0001c0062t0211	a0001c0011t0057g0073 a0001c0011t0057g0074 a0001c0062t0211g0192 a0001c0011t0057g0073 a0001c0011t0057g0074 a0001c0062t0211g0192	3	384	0.0078	788	c.272 others(807): Show c.2728-1874_2728-1873insTACCACCATCACCACCACCATCACCA TCATCCTTAACACCATTGCCCTCACCATCACCACCACCACCATCACCACC ACCGTCATCCTTACCACCATTACCCTCACCATCACCACCACCACTATCTC TACCTCCATCACCATCACTATCACCATCACCACCACCATCACCATCACCA TCATCCTTACCACTATCACCCTCACCATCACCACCACCATCTCTACCTCC ATCATCATCACTATCACCATCACCACCATCACCATCATCCTTACCACCAT CACCCTCACCATCACCACCACCATCACCATCGCAATCATCCTTACCACCA TTACCCTCGCCATCACCACCACCACCATCTCTACCTCCACCATCATCGTT ACTATCACCATCACCACCACCATCACCATCACCATCATCCTTACCACAAT TACCCTCGCCATCACCACCACCATCTCTACCTCCACCATCATCATCACTA TCACCATCACCACCATCACCATCGTCCTTACCACCATCACCCTCACCATC ACCACCACCATCACCATCACAATCATCCTTACCACAATTACCCTCGCCAT CACCACCACCACCATCTCTACCTCCACCATCGTCGTTACTATCACCATCA CCACCACCATCACCACCACATCACCATCACCATCATCCTTACCACAATTA CCCTCGCCATCACCACCACCATCTCTACCTCCACCATCATCATCACTATC ACCATCACCACCACCATCACCATCATCCTTAACACCATCACCCTCACCAT CACGACCACCAC	SYNE3	ENSG00000176438.13	transcript	ENST00000682763.1	protein_coding	17/17			chr14	TogoVar
TCF3_chr19_1604292_1657615	1628288	C C	CAGGGGAT others(781): Show CAGGGGATGAGGCGGGAAGGGGACAGCAGAACTCACGGGGGTGAGGCGGG AAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAG CTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGTGAGG CGGGAAAGGGACAGCAGAACTCACGGGGTGAGGTGGGAAGGGGACACCAG AGCTCACAGGGGGTGATGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTG AGGCGGGAAAGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAG CAGAGCTCACAGGGGGTGATGCGGGAAGGGGACAGCAGAGCTCACAGGGG GTGAGGCGGAAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGA CAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGG TGAGGCGGGAAGGGGACAGTAGAGCTCACAGGGGGTGAGGCGGGAAGGGG ACAGTAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACAGG GGGTGAGGCGGGAAGGGGACAGTAGAGCTCACGGGGGTGAGGCGGGAAGG GGACAGTAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCA CGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGA AGGGGACAGTAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGTAGAGCT CACAGGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0122 a0002c0001t0001g0122	1	352	0.0028	788	c.299 others(803): Show c.299-863_299-862insCGTGAGCTCTACTGTCCCCTTCCCGCCTCA CCCCCTGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTA CTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGC CTCACCCCGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCCTGTGAGCT CTACTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTACTGTCCCCTTCCC GCCTCACCCCCTGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCGTGAG CTCTACTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTACTGTCCCCTT CCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGA GCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTT CCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCATCACCCCCTG TGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCT TTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCATCACCCC CTGTGAGCTCTGGTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGTC CCTTTCCCGCCTCACCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACC CCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGC TGTCCCCTTCCCGCCTCACCCCCGTGAGTTCTGCTGTCCCCTTCCCGCCT CATCCCCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
THBS3_chr1_155190588_155212897	155191105	C C	CGCGGTGG others(781): Show CGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGT GGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAG GTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTTGTGT CCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGC CGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTG GAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGG GGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACA CCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGC CGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTG CTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGG GGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGG TGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCT GCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGAC ACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGG GCCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCC TGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	298	0.0034	788	c.47 others(799): Show c.4735_*4736insCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGGA CACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACC TCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCC ACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCACCGCG CCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGG CTCCACCGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGC CGGCCCCGGGCTCCACCGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCG GAGAGCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCA CCTCGGCCCCGGACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCC CACGGTGTCACCTCGGCCCCGGACACCAGGCCGGCCCCGGGCTCCACCGC CCCCCCCAGCCCACGGTGTCACCTCGGCCCCGGACACCAGGCCGGCCCCG GGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGGACACCA GGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGC CCCGGACACAAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGT GTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCACCGCGCCCGC AGCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCA CCGC	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4482		chr1	TogoVar
TMTC1_chr12_29495840_29788942	29734673	C C	CTAGCGAT others(781): Show CTAGCGATTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTATTATTATTATTATTATTATTATTTTTTTTTATTATACTCTAAGTTT TAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGC CATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATC TCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAG TGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCAC CTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTA CTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAA CTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACA TTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTC TTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTT ATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGG CTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACT GACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAG TGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTT TAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCA	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0246 a0002c0004t0007g0246	1	276	0.0036	788	c.938 others(807): Show c.938+16992_938+16993insTGAGATATCATCTCACACCAGTTAGA ATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCGG AGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAAC CATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATA CCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAA ATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTAT TCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGAC TGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCAT AAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAA CCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATA TTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAA GGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGG GATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCA GCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTG CACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAATAATAATAATAA TAATAATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA GAAAAATCGCTA	TMTC1	ENSG00000133687.16	transcript	ENST00000539277.6	protein_coding	5/17			chr12	TogoVar
TNFSF13B_chr13_108264718_108313478	108278578	C C	CTCCTCCT others(781): Show CTCCTCCTCCTCTTCCTCCTCCTCTGCTCCTGTCCTCCTCTTCTTCCTCC TCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTGCTCT GCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCTCCTTTCCTCC TCCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCCTCCTCCTTC TCCTCTCCCTCCTCCTCCCCTCCTCTCCCCTCCTCCTCCTCTTCCTCCTC CTCCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCTCT TCCTCCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCTCCTCCGC TTCTCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCCTCCT CCCCCTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCCC CTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCCTTC CTCCTCCTCCACTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCCTCCTC CTCCTCCCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCC TCCCCTTCCTCCTCCTCCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTC CTCCTCCTCCCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCC TCTCCTCCTCCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTT CTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0056 a0001c0001t0006g0056	1	384	0.0026	788	c.424 others(805): Show c.424+8165_424+8166insTTCCTCCTCCTCTGCTCCTGTCCTCCTC TTCTTCCTCCTCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCT CCTCTGCTCTGCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCT CCTTTCCTCCTCCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCC CTCCTCCTTCTCCTCTCCCTCCTCCTCCCCTCCTCTCCCCTCCTCCTCCT CTTCCTCCTCCTCCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCT CCCCTTCTCTTCCTCCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCT CCTCCTCCGCTTCTCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCT TCCTCCTCCTCCCCCTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCC TCCTCCTCCCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCT CCTCCCCTTCCTCCTCCTCCACTTCTCTTCCTCCTCCTCCTCCCCTCCTC TCCCCTCCTCCTCCTCCCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCC TTCCTCCTCCTCCCCTTCCTCCTCCTCCACTTCTCTTTCTCCTCCTCCCC TCCTCTCCTCCTCCTCCTCCCCTCTCCTCCTCCTCCCCTCCTCTCCTCCT CCTCTCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCCCTTCTCTTCCTCC TCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCTTT CCTCCTCCTC	TNFSF13B	ENSG00000102524.12	transcript	ENST00000375887.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
USP2_chr11_119350215_119386690	119351510	C C	CCTCCTCT others(781): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTTTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCCCTCTCTCCTCCGCTCCGCTCCCCTCTCCTCCACTCCTCT CCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCCCTCCCTTCCCCTCCCCTC CCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGC TCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCC TCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCC TCTCCTCCCCTCCTCTCTCCTCCCCTCCGCTCCCCTCCCCTCTCCTCCGC TCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCC TCTCCTCTGCTCCTCTCCTCTCCCTTCTCCTCCCCTCCTCTCTCCTCCCC TCCCCTCTCCTCCGCTCCCCTCCCCTCTCCTCCACTCCTCTCCCCTCCCC TCCTCTCTCCTCCACTCCTCTCCCCTCCTCTCCTCTCTCCTCCCCTCCCC TCTCCTCCCCTCCCCACCCCTCCCCTCCCCTCCTTTCTCCTCCCCTCCCC ACGGCTCCCCTCCCCTCCTTTCTCCTCCCTTGCCGTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0029 a0001c0004t0029	a0001c0004t0029g0118 a0001c0004t0029g0118	1	202	0.0050	788	c.53 others(799): Show c.5324_*5325insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGGGGAGCGGAGGAGA GGGGAGGGGAGGAGAGAGGAGGGGAGGAGAAGGGAGAGGAGAGGAGCAGA GGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGA GAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGGGAGGAGAGAGGAGGGGA GGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGGAGA GAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGA GGGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGG GAGGGGAGGGGAGGGGAAGGGAGGGAGAGGAGGGGAGGAGAGGGGAAGGG AGGGGAGAGGAGTGGAGGAGAGGGGAGCGGAGCGGAGGAGAGAGGGGAGG GGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGG GGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAAAGAGGAGGGGAGG GGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGG GGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGACAGAGGAGGAGAGA GGAG	USP2	ENSG00000036672.16	transcript	ENST00000260187.7	protein_coding		3704		chr11	TogoVar
VSIG4_chrX_66016738_66045080	66037121	A A	AATATATA others(781): Show AATATATAATATATATAATATATATAATATAATATAATGCAATATATAAT AATTATATAATATAATATATAATATATAATATATATTATATATTATATAT AATATATATTATATATTATATATAATAATATAATATATAATATACATTAT ATAATAATATAATATATAATATACATTATATAATAATATAATGTATATTA TATAATAATAATGTAATATATAACATATATTATATAATAATAATATAATA TATATTATATAATTAATATAATATATAATATATTTTATATAATAATAATA TAATATATATTATATAATTAATATAATATATAATATATATTATATAATAA TAATATAATATATATAATAATTATATAATATAGTATATAATATATATTAT ATAATAATAATATAATATATATAATAATTATATAATATTAGAATATATAT TATACAATAATAATATAATATATTATACAATAATAATATAATATATATAT AATTATATAATATAATATATATAATAATAATATAATATAATATATAATAT ATATTATATAGTAATAATATAATATAATATATAATATATATTATATAGTA ATAATATAATATAATATATAATATATATTATATGATAATATAATATAATA TATATTATATATTATATTATAATATAATATAATATATATTATATATTATA TAATAATATAATATAATATATAATATATATTATATAATAATATAATATAT AATATATATTATATAATAATATAATATAATATATAATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	218	0.0046	788	c.55+ others(803): Show c.55+2822_55+2823insATATTATATATTATATTATATTATTATATA ATATATATTATATATTATATTATTATATAATATATATTATATATTATATT ATATTATTATATAATATATAATATATATTATATTATATTATAATATAATA TATAATATATATTATATTATATTATCATATAATATATATTATATATTATA TTATATTATTACTATATAATATATATTATATATTATATTATATTATTACT ATATAATATATATTATATATTATATTATATTATTATTATATATATTATAT TATATAATTATATATATATTATATTATTATTGTATAATATATTATATTAT TATTGTATAATATATATTCTAATATTATATAATTATTATATATATTATAT TATTATTATATAATATATATTATATACTATATTATATAATTATTATATAT ATTATATTATTATTATATAATATATATTATATATTATATTAATTATATAA TATATATTATATTATTATTATATAAAATATATTATATATTATATTAATTA TATAATATATATTATATTATTATTATATAATATATGTTATATATTACATT ATTATTATATAATATACATTATATTATTATATAATGTATATTATATATTA TATTATTATATAATGTATATTATATATTATATTATTATATATAATATATA ATATATATTATATATAATATATAATATATATTATATATTATATATTATAT TATATAATTATTATATATTGCATTATATTATATTATATATATTATATATA TTATATAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
XYLT1_chr16_17096769_17475960	17420600	A A	AGATTCGC others(781): Show AGATTCGCCCAACCCTAGTACACAGCATAATACAGTGGTCTTTCAATTTA GCAGTAAGCACGCAGTATAGGGAAAAGTTAATCCACGGACCTCTTTTTCC TTCTGTAAATTGAAAGAGAGGGAGCCTGCTTCCTTTGATTTGAGTATGGA ATGACCTTGGCTAGTTCGTGAAGCCATCCATGGTGGTGAATGCCTGTAGT CCCAGCTAGTCGGGAGTCTGAGGTGGAAGGCTCGCTTGAGACCTGGAGGT TGAGGCTGCAGAGAGCCAGGATGGTACCACTGCGCTCCAGCCTGGGCGAC AGAGCAAGATCCTGTCTCAAAAACAAAAACAAAAAAAGATAGACTGCTCT TATGTCATTACACTCATTGACATAGCTCAGGGGTCTCTATGCCCTCTATG CAGTTATAGCATGAGCTATAGACAATAGGTAAATGAATGGGCATAGCTGT GTTCCAATAAAGCTTTATTTACAAAAACAGGCAGTGGGCCAGATTCGCCC ATCCCTGGTACACAGCATAATACAGTGGCCTTTCAATTTAGCAGTAGCCA CGCAGTTTGTAAACTCAATGAAACAGGCAATGCCTTTGACTGAAATGACT CTTGGTACTTTAATTTTGCATTTTAGACAACATCTTTCACTGCATTTTCA CATGCTGAAATGGGTTCAGATTTCTAAAATATAAGAAAAAGTTACAGTAA AACAAAACAAAACAAAAAACACTTAATATAGGGAAAAGCTAATCCATGGA CCTCTTTTTCCTTCTGTAAATTGAAAGAGAGGGAGCCTG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG04228.hp2 HG03654.hp2 HG04228.hp2	a0001 a0002 a0001 a0002	a0001c0014 a0002c0005 a0001c0014 a0002c0005	a0001c0014t0091 a0002c0005t0033 a0001c0014t0091 a0002c0005t0033	a0001c0014t0091g0143 a0002c0005t0033g0021 a0001c0014t0091g0143 a0002c0005t0033g0021	2	156	0.0128	788	c.363 others(807): Show c.363+49833_363+49834insCAGGCTCCCTCTCTTTCAATTTACAG AAGGAAAAAGAGGTCCATGGATTAGCTTTTCCCTATATTAAGTGTTTTTT GTTTTGTTTTGTTTTACTGTAACTTTTTCTTATATTTTAGAAATCTGAAC CCATTTCAGCATGTGAAAATGCAGTGAAAGATGTTGTCTAAAATGCAAAA TTAAAGTACCAAGAGTCATTTCAGTCAAAGGCATTGCCTGTTTCATTGAG TTTACAAACTGCGTGGCTACTGCTAAATTGAAAGGCCACTGTATTATGCT GTGTACCAGGGATGGGCGAATCTGGCCCACTGCCTGTTTTTGTAAATAAA GCTTTATTGGAACACAGCTATGCCCATTCATTTACCTATTGTCTATAGCT CATGCTATAACTGCATAGAGGGCATAGAGACCCCTGAGCTATGTCAATGA GTGTAATGACATAAGAGCAGTCTATCTTTTTTTGTTTTTGTTTTTGAGAC AGGATCTTGCTCTGTCGCCCAGGCTGGAGCGCAGTGGTACCATCCTGGCT CTCTGCAGCCTCAACCTCCAGGTCTCAAGCGAGCCTTCCACCTCAGACTC CCGACTAGCTGGGACTACAGGCATTCACCACCATGGATGGCTTCACGAAC TAGCCAAGGTCATTCCATACTCAAATCAAAGGAAGCAGGCTCCCTCTCTT TCAATTTACAGAAGGAAAAAGAGGTCCGTGGATTAACTTTTCCCTATACT GCGTGCTTACTGCTAAATTGAAAGACCACTGTATTATGCTGTGTACTAGG GTTGGGCGAATC	XYLT1	ENSG00000103489.12	transcript	ENST00000261381.7	protein_coding	1/11			chr16	TogoVar

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Search Results (Total: 8931 hits)