Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RECQL4_chr8_144506288_144522833	144513834	A A	GAGGGGTC others(533): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	412	0.0024	540	c.205 others(552): Show c.2058+94delTinsACTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCACAGGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTC		RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20						chr8	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(533): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	276	0.0036	540	c.132 others(557): Show c.132+2923_132+2924insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTT		RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24						chr4	TogoVar
RGPD3_chr2_106398406_106473413	106467181	C C	CCACAGGG others(533): Show CCACAGGGCCAGGTCGAGGCCGGCGCCTCAACAGAGCGCGCCAGGGAGCA GCGCCCGTCGGGAGCCATGACGCCTGAGCCATCGAGGCCGCCGCCGGGCC GGGTCGAGGCCGCCGCCTCAACAGAGCGCGCCAGGAAGCAGCGCCCGTCG GGAGCCATGACGCCTGAGCCATCGAGGCCGCCGCCGGGCCGGGTCGAGGC CGCCGCCTCAACAGAGCGCGCCAGGGAGCAGCGCCCGTCGGGAGCCATGA CGCCTGAGCCATCGAGGCCGCCGCCTCAACAGAGCATGCCAGGGAGCAGC GCCCGTCGGGAGCCATGATGCCTGAGCCATCAAGGCAGCCGCCGGGCCAG GTCGAGGCCGCCGCCTCCACAGAGCGCGCCAGGGAGCAGCGCCCGTCGGG AGCCATGACGCCTGAGCCATCGAGGCAGCCGCCGGGCCAGGTCGAGGCCG CCGCCTCAACAGAGGGCGCCAGGGAGCAGCGCCCGTCGGGAGCCATGACG CCTGAGCCATGGAGGCCGCCGCAGGGCCAGGTCGAGGCCGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02895.hp1 others(3): Show HG01884.hp1 HG01891.hp1 HG02895.hp1 HG02897.hp2 HG03195.hp1 NA20300.hp1	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0016 a0010c0012t0044 a0010c0012t0050 a0010c0012t0016 a0010c0012t0044 a0010c0012t0050	a0010c0012t0016g0254 a0010c0012t0016g0255 a0010c0012t0016g0257 others(3): Show a0010c0012t0016g0254 a0010c0012t0016g0255 a0010c0012t0016g0257 a0010c0012t0016g0258 a0010c0012t0044g0256 a0010c0012t0050g0259	6	382	0.0157	540	c.72+ others(555): Show c.72+1035_72+1036insCCGGCCTCGACCTGGCCCTGCGGCGGCCTC CATGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCCCTC TGTTGAGGCGGCGGCCTCGACCTGGCCCGGCGGCTGCCTCGATGGCTCAG GCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTGTGGAGGCG GCGGCCTCGACCTGGCCCGGCGGCTGCCTTGATGGCTCAGGCATCATGGC TCCCGACGGGCGCTGCTCCCTGGCATGCTCTGTTGAGGCGGCGGCCTCGA TGGCTCAGGCGTCATGGCTCCCGACGGGCGCTGCTCCCTGGCGCGCTCTG TTGAGGCGGCGGCCTCGACCCGGCCCGGCGGCGGCCTCGATGGCTCAGGC GTCATGGCTCCCGACGGGCGCTGCTTCCTGGCGCGCTCTGTTGAGGCGGC GGCCTCGACCCGGCCCGGCGGCGGCCTCGATGGCTCAGGCGTCATGGCTC CCGACGGGCGCTGCTCCCTGGCGCGCTCTGTTGAGGCGCCGGCCTCGACC TGGCCCTGTG		RGPD3	ENSG00000153165.19	transcript	ENST00000409886.4	protein_coding	1/22						chr2	TogoVar
RIMBP2_chr12_130391133_130721299	130646293	G G	GCCTCATC others(533): Show GCCTCATCACCTCCCTCACCACCTGCCTCGCCACCTCCCTCACCACCTCC CTCTCCACCTCCCTCACTACCTCCCTCACCACCTCCCTCACCACCTCCCT CACCACCTCCCTCACCACCTCCCTCTCCACCTCCCTCTCCACCTCCCTCA CCACCTCCCTCACCACCTCCCTCACCACCTCCCTCTCCACCTCCCTCACC ACCTCCCTCACCACCTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCAC CTCCCTCACCACCTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCACCT CCCTCGCCACCTCCCTCGCCACCTCCCTCTCCACCTCCCTCTCCACCTCC CTCTCCACCTCCCTCTCCACCTCCCTCACCACCTCCCTCACCACCTCCCT CTCCACCTCCCTCACCACTTCCCTCTCCACCTCCCTCTCCACCTCCCTCT CCACCTCCCTCTCCACCTCCCTCTCCACCTCCCTCGCCACCTCCCTCACC ACCTCCCTCACCACCTCCCTCTCCACCTCCCTCACCACTTC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0081 a0001c0006t0001g0081	1	180	0.0056	540	c.-35 others(561): Show c.-351-17838_-351-17837insGAAGTGGTGAGGGAGGTGGAGAGG GAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGCGAGGGAGGTGGAGAGGGA GGTGGAGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAAG TGGTGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTG GAGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAGGTGGC GAGGGAGGTGGCGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGA GGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAGG GAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGTGAGGGA GGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAGGGAGG TGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTA GTGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGGCGAGGCAGGTGGT GAGGGAGGTGATGAGG		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22						chr12	TogoVar
RNF223_chr1_1065967_1079306	1076597	C C	CGGGGACT others(533): Show CGGGGACTCCGTGCCGGGAGGCTGAGTCTACGGGGACTCCGTGCGGGGTG GCTGAGTCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCC GTGCGGGGTGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTA TGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCATGGGGGGAG GCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCC GTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTA TGGGGACTCCGTCGGGGGAGGCTGAGGCTATGGGGACTCCGTCGGGGGAG GCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCC GTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTA TGGGGACTCCGTGCGGGGTGGCTGAGGCTATGGGGACTCCGTGCCGGGAG GCTGAGGCTATGGGGACTCCGTGCGGGGAGGCTGAGGCTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0016 a0001c0001t0008g0016	1	324	0.0031	540	c.-25 others(551): Show c.-2592_-2591insATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAG CCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCACCCCGCACGGA GTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAGCCTCAGCCTC CCGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAG CCTCAGCCTCCCCCGACGGAGTCCCCATAGCCTCAGCCTCCCCCGACGGA GTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTC CCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAG CCTCAGCCTCCCCCCATGGAGTCCCCATAGACTCAGCCTCCCGGCACGGA GTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCAC CCCGCACGGAGTCCCCATAGCCTCAGCCTCCCCGCACGGAGTCCCCATAG ACTCAGCCACCCCGCACGGAGTCCCCGTAGACTCAGCCTCCCGGCACGGA GTCCCC		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2292		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076597	C C	CGGGGACT others(533): Show CGGGGACTCCGTGCGGGGTGGCTGAGTCTATGGGGACTCCGTGCGGGGAG GCTGAGGCTATGGGGACTCCGTGCGGGGTGGCTGAGTCTATGGGGACTCC GTGCCGGGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTA TGGGGACTCCATGGGGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAG GCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCC GTGGGGGGAGGCTGAGGCTATGGGGACTCCGTCGGGGGAGGCTGAGGCTA TGGGGACTCCGTCGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAG GCTGAGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCC GTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGTGGCTGAGGCTA TGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGAG GCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	540	c.-25 others(551): Show c.-2592_-2591insATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAG CCTCAGCCTCCCCGCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGA GTCCCCATAGCCTCAGCCACCCCGCACGGAGTCCCCATAGCCTCAGCCTC CCCGCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAG CCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCGACGGA GTCCCCATAGCCTCAGCCTCCCCCGACGGAGTCCCCATAGCCTCAGCCTC CCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAG CCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCCCCATGGA GTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCCCATAGACTCAGCCTC CCGGCACGGAGTCCCCATAGACTCAGCCACCCCGCACGGAGTCCCCATAG CCTCAGCCTCCCCGCACGGAGTCCCCATAGACTCAGCCACCCCGCACGGA GTCCCC		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2292		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076611	G G	GGGGAGGC others(533): Show GGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGG GACTCCGTGGGGGGAGGCTGAGGATACGGGGACTCCGTGGGGGGAGGCTG AGGATACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGG GACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTCGGGGGAGGCTG AGGCTACGGGGACTCCGTGCCGGGAGGCTGAGTCTACGGGGACTCCGTGC GGGGAGGCTGAGTCTACGGGGACTCCGTGAGGGGTGGCTGAGTCTATGGG GACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGTGGCTG AGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGC CGGGAGGCTGAGTCTACGGGGACTCCGTGCCGGGAGGCTGAGTCTACGGG GACTCCGTGCCGGGAGGCTGAGGCTACGGGGACTCCGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	1	324	0.0031	540	c.-26 others(551): Show c.-2606_-2605insGGCACGGAGTCCCCGTAGCCTCAGCCTCCCGGCA CGGAGTCCCCGTAGACTCAGCCTCCCGGCACGGAGTCCCCGTAGACTCAG CCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCC ATAGCCTCAGCCACCCCGCACGGAGTCCCCATAGCCTCAGCCTCCCCGCA CGGAGTCCCCATAGACTCAGCCACCCCTCACGGAGTCCCCGTAGACTCAG CCTCCCCGCACGGAGTCCCCGTAGACTCAGCCTCCCGGCACGGAGTCCCC GTAGCCTCAGCCTCCCCCGACGGAGTCCCCGTAGCCTCAGCCTCCCCCCA CGGAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGTCCCCGTAGCCTCAG CCTCCCCCCACGGAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGTCCCC GTATCCTCAGCCTCCCCCCACGGAGTCCCCGTATCCTCAGCCTCCCCCCA CGGAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGTCCCCGTAGCCTCAG CCTCCC		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2306		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076611	G G	GGGGAGGC others(533): Show GGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGG GACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTG AGGATACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGG GACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTCGGGGGAGGCTG AGGCTACGGGGACTCCGTGCCGGGAGGCTGAGTCTACGGGGACTCCGTGC GGGGAGGCTGAGTCTACGGGGACTCCGTGAGGGGTGGCTGAGTCTATGGG GACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGTGGCTG AGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGC CGGGAGGCTGAGTCTACGGGGACTCCGTGCCGGGAGGCTGAGTCTACGGG GACTCCGTGCCGGGAGGCTGAGGCTACGGGGACTCCGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG03540.hp1 HG02896.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	2	324	0.0062	540	c.-26 others(551): Show c.-2606_-2605insGGCACGGAGTCCCCGTAGCCTCAGCCTCCCGGCA CGGAGTCCCCGTAGACTCAGCCTCCCGGCACGGAGTCCCCGTAGACTCAG CCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCC ATAGCCTCAGCCACCCCGCACGGAGTCCCCATAGCCTCAGCCTCCCCGCA CGGAGTCCCCATAGACTCAGCCACCCCTCACGGAGTCCCCGTAGACTCAG CCTCCCCGCACGGAGTCCCCGTAGACTCAGCCTCCCGGCACGGAGTCCCC GTAGCCTCAGCCTCCCCCGACGGAGTCCCCGTAGCCTCAGCCTCCCCCCA CGGAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGTCCCCGTAGCCTCAG CCTCCCCCCACGGAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGTCCCC GTATCCTCAGCCTCCCCCCACGGAGTCCCCGTAGCCTCAGCCTCCCCCCA CGGAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGTCCCCGTAGCCTCAG CCTCCC		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2306		chr1	TogoVar
RNF223_chr1_1065967_1079306	1076611	G G	GGGGAGGC others(533): Show GGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGG GACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTG AGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGG GGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGG GACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCCGTCGGGGGAGGCTG AGGCTACGGGGACTCCGTGCCGGGAGGCTGAGTCTACGGGGACTCCGTGC GGGGAGGCTGAGTCTACGGGGACTCCGTGAGGGGTGGCTGAGTCTATGGG GACTCCGTGCGGGGAGGCTGAGGCTATGGGGACTCCGTGCGGGGTGGCTG AGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGC CGGGAGGCTGAGTCTACGGGGACTCCGTGCCGGGAGGCTGAGTCTACGGG GACTCCGTGCCGGGAGGCTGAGGCTACGGGGACTCCGTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	1	324	0.0031	540	c.-26 others(551): Show c.-2606_-2605insGGCACGGAGTCCCCGTAGCCTCAGCCTCCCGGCA CGGAGTCCCCGTAGACTCAGCCTCCCGGCACGGAGTCCCCGTAGACTCAG CCTCCCGGCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCC ATAGCCTCAGCCACCCCGCACGGAGTCCCCATAGCCTCAGCCTCCCCGCA CGGAGTCCCCATAGACTCAGCCACCCCTCACGGAGTCCCCGTAGACTCAG CCTCCCCGCACGGAGTCCCCGTAGACTCAGCCTCCCGGCACGGAGTCCCC GTAGCCTCAGCCTCCCCCGACGGAGTCCCCGTAGCCTCAGCCTCCCCCCA CGGAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGTCCCCGTAGCCTCAG CCTCCCCCCACGGAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGTCCCC GTAGCCTCAGCCTCCCCCCACGGAGTCCCCGTAGCCTCAGCCTCCCCCCA CGGAGTCCCCGTAGCCTCAGCCTCCCCCCACGGAGTCCCCGTAGCCTCAG CCTCCC		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2306		chr1	TogoVar
RPTOR_chr17_80539838_80971368	80743965	C C	CCCTGGTT others(533): Show CCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTAC TAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGG CTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTA GCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCT ACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCT GGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACGAGCACTG TCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0005 a0001c0017t0005	a0001c0017t0005g0031 a0001c0017t0005g0031	1	196	0.0051	540	c.655 others(559): Show c.655-10040_655-10039insTTACTAGCACAGCCCTGGCTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTAC TAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGG TTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCC CTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCAC TGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGA GCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCT GGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAG CCCTGGCTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGC ACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTAC TAGCACTGTCCTGG		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744601	T T	TTACGAGC others(533): Show TTACGAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCAGAGCC CTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGTAC AGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTA GCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTT ACGAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCT GGTTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAG CCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTAC TAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGG CTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCC CTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0013 a0001c0006t0013	a0001c0006t0013g0068 a0001c0006t0013g0068	1	196	0.0051	540	c.655 others(557): Show c.655-9406_655-9405insGAGCACAGCCCTGGCTACTAGCACTGTC CTGGCTACTAGCAGAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCAC AGCCCTGGCTACTAGTACAGCCCTGGCTACTAGCACTGTCCTGGCTACTA GCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCT ACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACGAGCACTGTCCT GGCTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTACTAGCACAG CCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGG CTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGCTAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744677	T T	TAGCACTG others(533): Show TAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACGAGCACTGTCCTGG CTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCC CTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTA GCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCT ACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAG CCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTAC TAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGG CTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0131 a0001c0002t0008g0131	1	196	0.0051	540	c.655 others(557): Show c.655-9328_655-9327insTGTCCTGGTTACGAGCACAGCCCTGGTT ACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAG CCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTAC GAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG CTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTA GCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGCT ACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCT GGTTACGAGCAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744785	T T	TAGCACTG others(533): Show TAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGG TTACGAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTC CTGGTTATGAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTA GCACAGCCCTGGCTACTAGCACTGTCCTGGTTATGAGCACAGCCCTGGCT ACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACGAGCACTGTCCT GGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAG CCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTATGAGC ACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGG CTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01978.hp2 HG00639.hp1 HG01978.hp2	a0001 a0001	a0001c0023 a0001c0024 a0001c0023 a0001c0024	a0001c0023t0002 a0001c0024t0002 a0001c0023t0002 a0001c0024t0002	a0001c0023t0002g0049 a0001c0024t0002g0048 a0001c0023t0002g0049 a0001c0024t0002g0048	2	196	0.0102	540	c.655 others(557): Show c.655-9220_655-9219insTGTCCTGGTTACTAGCACAGCCCTGGCT ACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACGAGCACTGTCCT GGCTACTAGCACTGTCCTGGTTATGAGCACAGCCCTGGTTACTAGCACAG CCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGC ACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTAT GAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGG TTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCC CTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGTTATGAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTA GCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTCCT GGTTACGAGCAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RRBP1_chr20_17608679_17687242	17659212	G G	GGCCTTCT others(533): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGCCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCCTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGTCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02896.hp2 HG02896.hp2	a0084 a0084	a0084c0116 a0084c0116	a0084c0116t0016 a0084c0116t0016	a0084c0116t0016g0256 a0084c0116t0016g0256	1	350	0.0029	540	c.129 others(549): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGACAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAGGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGC	p.Ala others(553): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnAspL ysLysAlaGluGlyAlaGlnAsnGlnGlyArgLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyThrProAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAla	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1608/5049	1295/4233	432/1410			chr20	TogoVar
RRBP1_chr20_17608679_17687242	17659212	G G	GGCCTTCT others(533): Show GGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCG GGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGTCCCCTCGGCCTTCTTG CCCTGGTTCGGGGTCCCCTCGGCCTTCTTGCCCTGGTTCGGGGCCCCCTC GGCCTTCTTGCCCTGGTTCGGGGCCCCCTCGGCCTTCTTGCCCTGGTTCG GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTG CCCTGGTTCTGGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTC GGCCTTCCTGCCCTGGTTCTGGGCCCCCTCGGCCTTCTTGTCCTGGTTCT GGGCCCCCTCGGCCTTCTTGCCCTGGTTCTGGGCCCCCTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01167.hp1 HG02572.hp1 HG03041.hp1 others(1): Show HG01167.hp1 HG02572.hp1 HG03041.hp1 HG03225.hp2	a0018 a0018	a0018c0015 a0018c0015	a0018c0015t0002 a0018c0015t0002	a0018c0015t0002g0141 a0018c0015t0002g0148 a0018c0015t0002g0160 others(1): Show a0018c0015t0002g0141 a0018c0015t0002g0148 a0018c0015t0002g0160 a0018c0015t0002g0282	4	350	0.0114	540	c.129 others(549): Show c.1295_1296insAGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCAGAACCAGGACAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAGGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGG GGCCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCCGAACCAGGGCAAGA AGGCCGAGGGGGCCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GACCCCGAACCAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGA AGGCCGAGGGGGCCCAGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAAC CAGGGCAAGAAGGCCGAGGGGACCCCGAACCAGGGCAAGAAGGCCGAGGG GACCCCGAACCAGGGCAAGAAGGCCGAGGGGGCCCAGAACCAGGGCAAGA AGGC	p.Ala others(553): Show p.Ala432_Glu433insGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaGlnAsnGlnAspLysLysAlaGluGlyAlaGlnAsnGlnGlyA rgLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGl uGlyAlaProAsnGlnGlyLysLysAlaGluGlyAlaProAsnGlnGlyL ysLysAlaGluGlyAlaProAsnGlnGlyLysLysAlaGluGlyThrPro AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyThrProAsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyL ysLysAlaGluGlyAlaGlnAsnGlnGlyLysLysAlaGluGlyAlaGln AsnGlnGlyLysLysAlaGluGlyThrProAsnGlnGlyLysLysAlaGl uGlyThrProAsnGlnGlyLysLysAlaGluGlyAlaGlnAsnGlnGlyL ysLysAla	RRBP1	ENSG00000125844.17	transcript	ENST00000377813.6	protein_coding	3/25	1608/5049	1295/4233	432/1410			chr20	TogoVar
SCAMP4_chr19_1900399_1931013	1923912	A A	ACCGTGCC others(533): Show ACCGTGCCCGGCCTATTTTTTATATTGTAGTAGAGACAGGGTTTCACCAT GTTGTTTGGACTGGTCTCGAACTCCAGAGCTCAGACAGTCTGTCCGCCTC GGCCTCCCGAAGTGCTGGGATGACAGGCGTGAGTCCCCGTGCCCGGCCTA TTTTTTATATTGTAGTAGAGACAGGGTTTCACCATGTTGTTTGGACTGGT CTCGAACTCCAGAGCTCAGACAGTCTGTCCGCCTCGGCCTCCCGAAGTGC TGGGATGACAGGCGTGAGTCCCCGTGCCCGGCCTATTTTTTATATTGTAG TAGAGACAGGGTTTCACCATGTTGTTTGGACTGGTCTCGAACTCCAGAGC TCAGACAGTCTGTCCGCCTCGGCCTCCCGAAGTGCTGGGATGACAGGCGT GAGTCCCCGTGCCCGGCCTATTTTTTATATTGTAGTAGAGACAGGGTTTC ACCATGTTGTTTGGACTGGTCTCGAACTCCAGAGCTCAGACAGTCTGTCC GCCTCGGCCTCCCGAAGTGCTGGGATGACAGGCGTGAGTCC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0334 a0001c0001t0001g0334	1	442	0.0023	540	c.514 others(555): Show c.514-103_514-102insCGCCTCGGCCTCCCGAAGTGCTGGGATGAC AGGCGTGAGTCCCCGTGCCCGGCCTATTTTTTATATTGTAGTAGAGACAG GGTTTCACCATGTTGTTTGGACTGGTCTCGAACTCCAGAGCTCAGACAGT CTGTCCGCCTCGGCCTCCCGAAGTGCTGGGATGACAGGCGTGAGTCCCCG TGCCCGGCCTATTTTTTATATTGTAGTAGAGACAGGGTTTCACCATGTTG TTTGGACTGGTCTCGAACTCCAGAGCTCAGACAGTCTGTCCGCCTCGGCC TCCCGAAGTGCTGGGATGACAGGCGTGAGTCCCCGTGCCCGGCCTATTTT TTATATTGTAGTAGAGACAGGGTTTCACCATGTTGTTTGGACTGGTCTCG AACTCCAGAGCTCAGACAGTCTGTCCGCCTCGGCCTCCCGAAGTGCTGGG ATGACAGGCGTGAGTCCCCGTGCCCGGCCTATTTTTTATATTGTAGTAGA GACAGGGTTTCACCATGTTGTTTGGACTGGTCTCGAACTCCAGAGCTCAG ACAGTCTGTC		SCAMP4	ENSG00000227500.11	transcript	ENST00000316097.13	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
SCAMP4_chr19_1900399_1931013	1923997	C C	CAGTCTGT others(533): Show CAGTCTGTCTGCCTCGGCCTCCCGAAGTGCTGGGATGACAGGCGTGAGTC CCCGCGCCCGGCCTATTTTTTATATTGTAGTAGAGACAGGGTTTCACCAT GTTGTTTGGACTGGTCTCGAACTCCAGAGCTCAGAGAGTCTGTCTGCCTC GGCCTCCCGAAGTGCTGGGATGACAGGCGTGAGTCCCCGTGCCCGGCCTA TTTTTTATATTGTAGTAGAGACAGGGTTTCACCATGTTGTTTGGACTGGT CTCGAACTCCAGAGCTCAGACAGTCTGTCTGCCTCGGCCTCCCGAAGTGC TGGGATGACAGGCGTGAGTCCCCGCGCCCGGCCTATTTTTTATATTGTAG TAGAGACAGGGTTTCACCATGTTGTTTGGACTGGTCTCGAACTCCAGAGC TCAGAGAGTCTGTCTGCCTCGGCCTCCCGAAGTGCTGGGATGACAGGCGT GAGTCCCCGCGCCCGGCCTATTTTTTATATTGTAGTAGAGACAGGGTTTC ACCATGTTGTTTGGACTGGTCTCGAACTCCAGAGCTCAGAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	442	0.0023	540	c.514 others(553): Show c.514-58_514-57insCGCCCGGCCTATTTTTTATATTGTAGTAGAGA CAGGGTTTCACCATGTTGTTTGGACTGGTCTCGAACTCCAGAGCTCAGAG AGTCTGTCTGCCTCGGCCTCCCGAAGTGCTGGGATGACAGGCGTGAGTCC CCGTGCCCGGCCTATTTTTTATATTGTAGTAGAGACAGGGTTTCACCATG TTGTTTGGACTGGTCTCGAACTCCAGAGCTCAGACAGTCTGTCTGCCTCG GCCTCCCGAAGTGCTGGGATGACAGGCGTGAGTCCCCGCGCCCGGCCTAT TTTTTATATTGTAGTAGAGACAGGGTTTCACCATGTTGTTTGGACTGGTC TCGAACTCCAGAGCTCAGAGAGTCTGTCTGCCTCGGCCTCCCGAAGTGCT GGGATGACAGGCGTGAGTCCCCGCGCCCGGCCTATTTTTTATATTGTAGT AGAGACAGGGTTTCACCATGTTGTTTGGACTGGTCTCGAACTCCAGAGCT CAGAGAGTCTGTCTGCCTCGGCCTCCCGAAGTGCTGGGATGACAGGCGTG AGTCCCCG		SCAMP4	ENSG00000227500.11	transcript	ENST00000316097.13	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
SCAMP4_chr19_1900399_1931013	1924006	T T	TGCCTCGG others(533): Show TGCCTCGGCCTCCCGAAGTGCTGGGATGACAGGCGTGAGTCCCCGCGCCC GGCCTATTTTTTATATTGTAGTAGAGACAGGGTTTCACCATGTTGTTTGG ACTGGTCTCGAACTCCAGAGCTCAGAGAGTCTGTCTGCCTCGGCCTCCCG AAGTGCTGGGATGACAGGCGTGAGTCCCCGTGCCCGGCCTATTTTTTATA TTGTAGTAGAGACAGGGTTTCACCATGTTGTTTGGACTGGTCTCGAACTC CAGAGCTCAGACAGTCTGTCTGCCTCGGCCTCCCGAAGTGCTGGGATGAC AGGCGTGAGTCCCCGCGCCCGGCCTATTTTTTATATTGTAGTAGAGACAG GGTTTCACCATGTTGTTTGGACTGGTCTCGAACTCCAGAGCTCAGAGAGT CTGTCTGCCTCGGCCTCCCGAAGTGCTGGGATGACAGGCGTGAGTCCCCG CGCCCGGCCTATTTTTTATATTGTAGTAGAGACAGGGTTTCACCATGTTG TTTGGACTGGTCTCGAACTCCAGAGCTCAGAGAGTCTGTCC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	442	0.0023	540	c.514 others(553): Show c.514-58_514-57insCGCCCGGCCTATTTTTTATATTGTAGTAGAGA CAGGGTTTCACCATGTTGTTTGGACTGGTCTCGAACTCCAGAGCTCAGAG AGTCTGTCTGCCTCGGCCTCCCGAAGTGCTGGGATGACAGGCGTGAGTCC CCGTGCCCGGCCTATTTTTTATATTGTAGTAGAGACAGGGTTTCACCATG TTGTTTGGACTGGTCTCGAACTCCAGAGCTCAGACAGTCTGTCTGCCTCG GCCTCCCGAAGTGCTGGGATGACAGGCGTGAGTCCCCGCGCCCGGCCTAT TTTTTATATTGTAGTAGAGACAGGGTTTCACCATGTTGTTTGGACTGGTC TCGAACTCCAGAGCTCAGAGAGTCTGTCTGCCTCGGCCTCCCGAAGTGCT GGGATGACAGGCGTGAGTCCCCGCGCCCGGCCTATTTTTTATATTGTAGT AGAGACAGGGTTTCACCATGTTGTTTGGACTGGTCTCGAACTCCAGAGCT CAGAGAGTCTGTCCGCCTCGGCCTCCCGAAGTGCTGGGATGACAGGCGTG AGTCCCCG		SCAMP4	ENSG00000227500.11	transcript	ENST00000316097.13	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
SCAMP4_chr19_1900399_1931013	1924047	C C	CCCGCGCC others(533): Show CCCGCGCCCGGCCTATTTTTTATATTGTAGTAGAGACAGGGTTTCACCAT GTTGTTTGGACTGGTCTCGAACTCCAGAGCTCAGAGAGTCTGTCTGCCTC GGCCTCCCGAAGTGCTGGGATGACAGGCGTGAGTCCCCGTGCCCGGCCTA TTTTTTATATTGTAGTAGAGACAGGGTTTCACCATGTTGTTTGGACTGGT CTCGAACTCCAGAGCTCAGACAGTCTGTCTGCCTCGGCCTCCCGAAGTGC TGGGATGACAGGCGTGAGTCCCCGCGCCCGGCCTATTTTTTATATTGTAG TAGAGACAGGGTTTCACCATGTTGTTTGGACTGGTCTCGAACTCCAGAGC TCAGAGAGTCTGTCTGCCTCGGCCTCCCGAAGTGCTGGGATGACAGGCGT GAGTCCCCGCGCCCGGCCTATTTTTTATATTGTAGTAGAGACAGGGTTTC ACCATGTTGTTTGGACTGGTCTCGAACTCCAGAGCTCAGAGAGTCTGTCC GCCTCGGCCTCCCGAAGTGCTGGGATGACAGGCGTGAGCCA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	442	0.0023	540	c.514 others(553): Show c.514-58_514-57insCGCCCGGCCTATTTTTTATATTGTAGTAGAGA CAGGGTTTCACCATGTTGTTTGGACTGGTCTCGAACTCCAGAGCTCAGAG AGTCTGTCTGCCTCGGCCTCCCGAAGTGCTGGGATGACAGGCGTGAGTCC CCGTGCCCGGCCTATTTTTTATATTGTAGTAGAGACAGGGTTTCACCATG TTGTTTGGACTGGTCTCGAACTCCAGAGCTCAGACAGTCTGTCTGCCTCG GCCTCCCGAAGTGCTGGGATGACAGGCGTGAGTCCCCGCGCCCGGCCTAT TTTTTATATTGTAGTAGAGACAGGGTTTCACCATGTTGTTTGGACTGGTC TCGAACTCCAGAGCTCAGAGAGTCTGTCTGCCTCGGCCTCCCGAAGTGCT GGGATGACAGGCGTGAGTCCCCGCGCCCGGCCTATTTTTTATATTGTAGT AGAGACAGGGTTTCACCATGTTGTTTGGACTGGTCTCGAACTCCAGAGCT CAGAGAGTCTGTCCGCCTCGGCCTCCCGAAGTGCTGGGATGACAGGCGTG AGCCACCG		SCAMP4	ENSG00000227500.11	transcript	ENST00000316097.13	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
SDCCAG8_chr1_243251041_243505091	243338980	A A	AGACCTCA others(533): Show AGACCTCAGAAAGTGGGGTGGGCGGCAGGAGGGAGCAGACAGCTAGTGGG CAGAGGACCTCAGAAAGTGGGGTGGGCGGCAGGAGGGAGCAGACAGCTAG TGGGCAGAGGACCTCAGAAAGTGGGGTGGGCGGCAGGAGGGAGCAGACAG CTAGTGGGCAGAGGACCTCAGAAAGTGGGGTGGGCGGCAGGAGGGAGCAG ACAGCTAGTGGGCAGAGGACCTCAGAAAGTGGGGTGGGCGGCAGGAGGGA GCAGACAGCTAGTGGGCAGAGGACCTCAGAAAGTGGGGTGGGCGGCAGGA GGGAGCAGACAGCTAGTGGGCAGAGGACCTCAGAAAGTGGGGTGGGCGGC AGGAGGGAGCAGACAGCTAGTGGGCAGAGGACCTCAGAAAGTGGGGTGGG CGGCAGGAGGGAGCAGACAGCTAGTGGGCAGAGGACCTCAGAAAGTGGGG TGGGCGGCAGGAGGGAGCAGACAGCTAGTGGGCAGAGGACCTCAGAAAGT GGGGTGGGCGGCAGGAGGGAGCAGACAGCTAGTGGGCAGAG	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0182 a0002c0003t0001g0182	1	189	0.0053	540	c.122 others(559): Show c.1222-1895_1222-1894insCCTCAGAAAGTGGGGTGGGCGGCAGG AGGGAGCAGACAGCTAGTGGGCAGAGGACCTCAGAAAGTGGGGTGGGCGG CAGGAGGGAGCAGACAGCTAGTGGGCAGAGGACCTCAGAAAGTGGGGTGG GCGGCAGGAGGGAGCAGACAGCTAGTGGGCAGAGGACCTCAGAAAGTGGG GTGGGCGGCAGGAGGGAGCAGACAGCTAGTGGGCAGAGGACCTCAGAAAG TGGGGTGGGCGGCAGGAGGGAGCAGACAGCTAGTGGGCAGAGGACCTCAG AAAGTGGGGTGGGCGGCAGGAGGGAGCAGACAGCTAGTGGGCAGAGGACC TCAGAAAGTGGGGTGGGCGGCAGGAGGGAGCAGACAGCTAGTGGGCAGAG GACCTCAGAAAGTGGGGTGGGCGGCAGGAGGGAGCAGACAGCTAGTGGGC AGAGGACCTCAGAAAGTGGGGTGGGCGGCAGGAGGGAGCAGACAGCTAGT GGGCAGAGGACCTCAGAAAGTGGGGTGGGCGGCAGGAGGGAGCAGACAGC TAGTGGGCAGAGGA		SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	10/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431777	A A	ATAGGGTG others(533): Show ATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGTTAGG GTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGA CAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGTTAGGG TGGTTAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGAT AGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATA GGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAG GGTGGACAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGG ACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0186 a0001c0004t0003g0186	1	376	0.0027	540	c.101 others(559): Show c.1014-1182_1014-1181insTTAGGGTGGATAGGGTGGTTAGGGTG GTTAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAG GGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGG ACAGGGTGGTTAGGGTGGTTAGGGTGGACAGGGTGGACAGGGTGGATAGG GTGGTTAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGG TGGACAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGAC AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGATA GGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAG GGTGGTTAGGGTGG		SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431993	A A	ATAGGGTG others(533): Show ATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGG TGGTTAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATA GGATGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTG GATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGG GTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGATGGT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0347 a0002c0002t0001g0347	1	376	0.0027	540	c.101 others(557): Show c.1014-947_1014-946insTAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGAGAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGTTA GGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGAGAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGATGG TTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGG GTGGATAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGA TGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAT AGGGTGGATAGGGTGGAGAGGGTGGATAGGATGGTTAGGGTGGATAGGGT GGATAGGGTGGA		SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432129	T T	TAGGGTGG others(533): Show TAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGG TGGAGAGGGTGCAGAGGGTGCAGAGGGTGGAGAGGGTGGAGAGGGTGGAG AGGGTGGAGAGGGTGGAGAGGGTGGTTAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGATGGTTA GGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTG GACAGGGTGGACAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGAGAG GGTGGAGAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGACAGGGTGG ATAGGGTGGATAGGGTGCAGAGGGTGCAGAGGGTGCAGAGGGTGGAGAGG GTGGAGAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA GAGGGTGGAGAGGGTGGACAGGGTGGTTAGGGTGGACAGGGTGGATAGGG TGGATAGGGTGCAGAGGGTGCAGAGGGTGCAGAGGGTGGAG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	2	376	0.0053	540	c.101 others(557): Show c.1014-830_1014-829insTAGGGTGGACAGGGTGGACAGGGTGGAC AGGGTGGATAGGGTGGAGAGGGTGCAGAGGGTGCAGAGGGTGGAGAGGGT GGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGTTAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTG GATAGGATGGTTAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAGAG GGTGGAGAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGACAGGGTGG ATAGGGTGGAGAGGGTGGAGAGGGTGGACAGGGTGGACAGGGTGGTTAGG GTGGACAGGGTGGATAGGGTGGATAGGGTGCAGAGGGTGCAGAGGGTGCA GAGGGTGGAGAGGGTGGAGAGGGTGGTTAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGAGAGGGTGGAGAGGGTGGACAGGGTGGTTAGGGTGGAC AGGGTGGATAGGGTGGATAGGGTGCAGAGGGTGCAGAGGGTGCAGAGGGT GGAGAGGGTGGA		SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432165	T T	TAGGGTGG others(533): Show TAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGG TGGAGAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAG AGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGT GGATAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGA GGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTG GAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGAGAG GGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGG AGAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGG GTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGA GAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGAC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0280 a0002c0002t0001g0280	1	376	0.0027	540	c.101 others(557): Show c.1014-785_1014-784insGAGGGTGGAGAGGGTGGATAGGGTGGAT AGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGT GGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATA GGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTG GAGAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGAGAG GGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGG AGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGG GTGGAGAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGA GAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGAGAGGG TGGAGAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGACAGGGT GGATAGGGTGGA		SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432187	G G	GTGGATAG others(533): Show GTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGAG AGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGTTAGGGTG GATAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGACAG GGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGG ACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGG GTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGATAGGATGGTCAGGGTGGACAGGGTGGATAGGA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0263 a0001c0003t0004g0263	1	376	0.0027	540	c.101 others(557): Show c.1014-777_1014-776insATAGGGTGGACAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGAT AGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTG GATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGTTAG GGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGG ACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTCAGGGTGGACAGGG TGGATAGGATGG		SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SERPINF2_chr17_1737871_1760265	1739538	A A	AGCCTGAT others(533): Show AGCCTGATTCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGC AGGGAGTGAGGAGCCGTACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGCGCGGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAG GCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCA GGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACA GTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGG GAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGC GGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGAGCAGGACAGTCAGGGTGGGAGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0035 a0002c0002t0001g0035	1	445	0.0023	540	c.-33 others(551): Show c.-3375_-3374insGCCTGATTCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGG GAGGCGGCCTGATGCAGGGAGTGAGGAGCCGTACAGTGAGGGTGGGAAGG AGCCTGATGCAGGGAGTGAGGCGCGGGACAGTGAGGGTGGGAAGGAGCCT GATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGC AGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGA GTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAG GAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCC GGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACA GTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAG GGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTCAGGGTGG GAGGCG		SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding					3332		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739862	C C	CAGGGAGT others(533): Show CAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGG AGTGAGGCACAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGA GGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGC CGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGAC AGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCCGGACAGTGA GGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTG GGAAGGAGCCTGATGCAGGGAGTGAGGCGCCGGACAGTGAGGGTGGGAAG GAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCC TGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATG CAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGG AGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00639.hp2 others(50): Show HG00438.hp2 HG00597.hp1 HG00639.hp2 HG00738.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01496.hp1 HG01515.hp1 HG01934.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp2 HG02818.hp2 HG02965.hp1 HG03017.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03710.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp2 NA18940.hp1 NA18951.hp1 NA18956.hp1 NA18970.hp1 NA18971.hp2 NA18981.hp1 NA18990.hp1 NA18995.hp1 NA18998.hp1 NA19009.hp1 NA19030.hp2 NA19064.hp2 NA19066.hp1 NA19079.hp1 NA19081.hp2 NA20300.hp2 NA20905.hp1	a0002 a0004 a0010 a0002 a0004 a0010	a0002c0002 a0004c0004 a0010c0013 a0002c0002 a0004c0004 a0010c0013	a0002c0002t0001 a0002c0002t0004 a0004c0004t0002 others(3): Show a0002c0002t0001 a0002c0002t0004 a0004c0004t0002 a0004c0004t0003 a0004c0004t0004 a0010c0013t0001	a0002c0002t0001g0004 a0002c0002t0001g0009 a0002c0002t0001g0014 others(31): Show a0002c0002t0001g0004 a0002c0002t0001g0009 a0002c0002t0001g0014 a0002c0002t0001g0020 a0002c0002t0001g0025 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0036 a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0061 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0073 a0002c0002t0001g0076 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0090 a0002c0002t0001g0092 a0002c0002t0001g0095 a0002c0002t0004g0009 a0002c0002t0004g0020 a0002c0002t0004g0062 a0004c0004t0002g0084 a0004c0004t0003g0004 a0004c0004t0003g0037 a0004c0004t0003g0080 a0004c0004t0004g0069 a0010c0013t0001g0009	53	445	0.1191	540	c.-30 others(551): Show c.-3051_-3050insAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAG GAGCCTGATGCAGGGAGTGAGGCACAGGACAGTGAGGGTGGGAAGTGGCC TGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATG CAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGG AGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGA GGCGCCGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGC CGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCCGGAC AGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGA GGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTG GGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGG CGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCC TGATGT		SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding					3008		chr17	TogoVar
SERPINF2_chr17_1737871_1760265	1739862	C C	CAGGGAGT others(533): Show CAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGG AGTGAGGCGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGA GGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGC CGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGAC AGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCCGGACAGTGA GGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTG GGAAGGAGCCTGATGCAGGGAGTGAGGCGCCGGACAGTGAGGGTGGGAAG GAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCC TGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATG CAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGG AGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0038 a0002c0002t0001g0038	1	445	0.0023	540	c.-30 others(551): Show c.-3051_-3050insAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAG GAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGTGGCC TGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATG CAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGG AGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGA GGCGCCGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGC CGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCCGGAC AGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGA GGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTG GGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGG CGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCC TGATGT		SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding					3008		chr17	TogoVar
SHROOM2_chrX_9781429_9954443	9791969	G G	GAGAATAG others(533): Show GAGAATAGAATAGGATAGGATAGGATAGGATAGGATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0008 a0008	a0008c0021 a0008c0021	a0008c0021t0001 a0008c0021t0001	a0008c0021t0001g0074 a0008c0021t0001g0074	1	256	0.0039	540	c.165 others(557): Show c.165+5271_165+5272insGATAGGATAGGATAGGATAGGATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAG		SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chrX	TogoVar
SIGIRR_chr11_400716_419999	401194	A A	ACCGCCCC others(533): Show ACCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGC CCCGCTCACCCCCGGCCCCGCTCACCCCCCGGCCCCGCTCACACCCGCCC CGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCCGCT CACCCCCGGCCCCGCTCACACCGCCCCGCTCACCCCCGGCCCCGCTCACA CCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCC GGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGAC CCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGC TCACACCCGCCCCGCTCACCCCCCGGCCCGCTCACACCCGCCCCGCTCAC CCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCC GGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGGCC CCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0146 a0005c0013t0001g0146	1	242	0.0041	540	c.47 others(551): Show c.4701_*4702insGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGT GAGCGGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAG CGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGG GGCCGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGGTGAGCGGGGCG GGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGG TGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAG CGGGGCCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCG GGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGTGTGAGCGGGGCC GGGGGTGAGCGGGGGCGGGTGTGAGCGGGCCGGGGGTGAGCGGGGCGGGT GTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGGTGAGCGGGGCCGGGGGT GAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCG GGGCGG		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					4521		chr11	TogoVar
SKI_chr1_2223319_2315213	2281712	A A	AGATCTTC others(533): Show AGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGA AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG CGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGC GGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATC TTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAG AGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAT GCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGAGAGAGAGATGCCCGA GAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACA GGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTG GCGGAGATCTTCATAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGA TCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGCGGCGGC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0130 a0001c0001t0003g0130	1	330	0.0030	540	c.970 others(559): Show c.970-21258_970-21257insTAGAGAGGTGGCGGAGATCTTCAGAG AGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGAC GCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAG AAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAG GCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGG CGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGAT CTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGCGGCGGAGATCTTCAGA GAGAGAGATGCCCGAGAAGACAGGCGGCGGCGGAGATCTTCAGAGAGAGG ATGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGAGGACGCCTG AGAAGACAGGCGGTGGCGGAGATCTTCATAGAGAGGACGCCCGAGAAGAC AGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGC GGCGGCGATCTTCA		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SLAIN1_chr13_77692687_77769229	77703948	T T	TAAAATAT others(533): Show TAAAATATATATACATATGTTTTATAAGTGTATATATACACATATAAAAT ATATATACATATGTTTTATAAGTGTATATATACACATAAAATATATATAC ATATGTTTTATATGTGTATATATACACATAAAATATATATACATATGTTT TATATGTGTATATATACACATATAAAATATATATACATATGTTTTATATG TGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTATA TATACACATATAAAATATATATACATATGTTTTATATGTGTATATATACA CATATAAAATATATATACATATGTTTTATATGTATATATACATATAAAAT ATATATACATATGTTTTATATGTATATATACATATAAAATATATATACAT ATGTTTTATATGTATATATATACATATAAAATATATATACATATAAAATA TATACATATAAAATATATATACATATGTTTTATATGTATATATACATATA AAACATATATACATATGTTTTATATGTATATATATACATAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	300	0.0033	540	c.626 others(557): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATAAAATATATATACATAT GTTTTATATGTGTATATATACACATAAAATATATATACATATGTTTTATA TGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTA TATATACACATATAAAATATATATACATATGTTTTATATGTGTATATATA CACATATAAAATATATATACATATGTTTTATATGTGTATATATACACATA TAAAATATATATACATATGTTTTATATGTATATATACATATAAAATATAT ATACATATGTTTTATATGTATATATACATATAAAATATATATACATATGT TTTATATGTATATATATACATATAAAATATATATACATATAAAATATATA CATATAAAATATATATACATATGTTTTATATGTATATATACATATAAAAC ATATATACATATGTTTTATATGTATATATATACATAGAAAATATATATAC ATATGTTTTATA		SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC24A3_chr20_19207642_19727926	19663437	C C	CTCCTCCA others(533): Show CTCCTCCACTTCCTCCTCCACCTCCTCCTCTACCTCCTCCACCTCCTCCT CCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCC TCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTC CTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCT CCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACC TCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTC CTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCT CCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCC TCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTC CTCCACCTCCTCCTCCTCCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCT CCACCTCCTCCTCCACCTCCACCTCCACCTCCTCCTCCACT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	160	0.0063	540	c.688 others(557): Show c.688-2426_688-2425insCCTCCACTTCCTCCTCCACCTCCTCCTC TACCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCT CCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCC TCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTC CTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCT CCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCC TCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCAC CTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCT CCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCC TCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCTCCTC CTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCACCTCCACCT CCTCCTCCACTT		SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16					INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC35F1_chr6_117902264_118322671	117924143	A A	ATATATAC others(533): Show ATATATACACACATAGGTACACATGCATATGTATATACACACATAGGTAC ACATGCATATGTATATACACACATAGGTACACATGCATATGTATATACAC ACATAGGTACACATGCATATGTATATACACACATAGGTACACATGCATAT GTATATACACACATAGGTACACATGCATATGTATATACACACATAGGTAC ACATGCATATGTATATACACACATAGGTACACATGCATATGTATATACAC ACATAGGTACACATGCATATGTATATACACACATAGGTACACATGCATAT GTATATACACACATAGGTACACATGCATATGTATATACACACATAGGTAC ACATGCATATGTATATACACACATAGGTACACATGCATATGTATATACAC ACATAGGTACACATGCATATGTATATACACACATAGGTACACATGCATAT GTATATACACACATAGGTACACATGCATATGTATATACACACATAGGTAC ACATGCATATGTATATACACACATAGGTACACATGCATATG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0082 a0001c0001t0004g0082	1	182	0.0055	540	c.173 others(559): Show c.173+16520_173+16521insCACACATAGGTACACATGCATATGTA TATACACACATAGGTACACATGCATATGTATATACACACATAGGTACACA TGCATATGTATATACACACATAGGTACACATGCATATGTATATACACACA TAGGTACACATGCATATGTATATACACACATAGGTACACATGCATATGTA TATACACACATAGGTACACATGCATATGTATATACACACATAGGTACACA TGCATATGTATATACACACATAGGTACACATGCATATGTATATACACACA TAGGTACACATGCATATGTATATACACACATAGGTACACATGCATATGTA TATACACACATAGGTACACATGCATATGTATATACACACATAGGTACACA TGCATATGTATATACACACATAGGTACACATGCATATGTATATACACACA TAGGTACACATGCATATGTATATACACACATAGGTACACATGCATATGTA TATACACACATAGGTACACATGCATATGTATATACACACATAGGTACACA TGCATATGTATATA		SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMYD3_chr1_245744347_246512279	246325041	C C	CGGGGGGC others(533): Show CGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAG AAGGAGTCGCGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAG GAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGC GGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCG GGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAG GAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGGAAGGAGG GAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCGGG AAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGG GGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGG AGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGCGGGAAGGAG GGAGAAGGAGTCGGGGGGCGGGAAGGAGGGAGAAGGAGTCG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	150	0.0067	540	c.531 others(557): Show c.531+2159_531+2160insCGACTCCTTCTCCCTCCTTCCCGCCCCC CGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCCCTCCTTCC CGCCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCC CTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTC CTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCC CCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCC CGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCT CCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGACTCCTT CTCCCTCCTTCCCGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCGA CTCCTTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCCGCC CCCGCGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCCTCC TTCCTGCCCCCC		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SNX9_chr6_157818246_157950077	157827335	T T	TATATAAT others(533): Show TATATAATATATAAACATATAGTTTATATAATATATAAACATATAGTTTA TATAATATATAAACATATATTATAGTTTATATAATATATAAACATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAA TATATACACATATATTATAGTTTATATAATATATACACATATATTATAGT TTATATAATATATAAAATATATTATAGTTTATATAATATATACATATATA TTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATA AACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATA GTTCATATAATATATAAACATATATTATAGTTCATATAATATATAAACAT ATATTATAGTTCATATAATATATAAACATATATTATAGTTC	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	302	0.0033	540	c.12+ others(555): Show c.12+3909_12+3910insGTTTATATAATATATAAACATATAGTTTAT ATAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACAC ATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATAAAATATATTATAGTTTATATAATATATACATATATAT TATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTCATATAATATATAAACATATATTATAGTTCATATAATATATAAACATA TATTATAGTTCATATAATATATAAACATATATTATAGTTCATATAATATA TAAACATATA		SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr6	TogoVar
SPATA6_chr1_48290373_48477204	48384325	G G	GGAGGGAG others(533): Show GGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	322	0.0031	540	c.909 others(555): Show c.909+983_909+984insTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTC		SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12						chr1	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(533): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAAGGGG AGGGGGAGGTGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGG GGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGA GGGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGG GGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGG GGAGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGAAGGGGGAGGG GGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGAACGGGGG AGGGGAGATGGGGAGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAACGGG GGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0001 a0009c0015t0001	a0009c0015t0001g0071 a0009c0015t0001g0071	1	251	0.0040	540	c.34 others(549): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCTCCCCATCT CCCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCC CTCCCCCCTCCCCCTTCCCCTCCCCCCTCCCCCTTCCCCCTCCCCCCTCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCCT CCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCC CCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCC CTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCACCTC CCCCTCCCCTTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCACCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCTTC CCCT		SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding					130		chr21	TogoVar
SUFU_chr10_102498972_102638535	102637473	T T	TATTATAT others(533): Show TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT TATATAACTATATATTATATATATTATATATTATATAACTATATATTATA TATAATATATATATTATATATTATATAACTATATATTATATATAATATAT ATATTATATAACTATATATTATATATAATATATATATTATATATTATATA ACTATATATTATATATAATATATATATTATATATTATATAACTATATATT ATATATAATATATATTATATATTATATAACTATATATTATATATAATATA TATATTATATATTATATAACTATATATTATATATAATATATATATTATAT ATTATATAACTATATATTATATATAATATATATATTATATATTATATAAC TATATATTATATATAATATATATATTATATATTATATAACTATATATTAT ATATAATATATATATTATATATAATATAACTATATATTATATATAATATA TAATTATATATTATATAACTATATATTATATATAATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0245 a0001c0001t0001g0211 a0001c0001t0001g0245	2	268	0.0075	540	c.73 others(551): Show c.7318_*7319insATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATTATATAACTATATATTATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATTATATAACTATATA TTATATATAATATATATATTATATAACTATATATTATATATAATATATAT ATTATATATTATATAACTATATATTATATATAATATATATATTATATATT ATATAACTATATATTATATATAATATATATTATATATTATATAACTATAT ATTATATATAATATATATATTATATATTATATAACTATATATTATATATA ATATATATATTATATATTATATAACTATATATTATATATAATATATATAT TATATATTATATAACTATATATTATATATAATATATATATTATATATTAT ATAACTATATATTATATATAATATATATATTATATATAATATAACTATAT ATTATATATAATATATAATTATATATTATATAACTATATATTATATATAA TATATA		SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding					3939		chr10	TogoVar
SYNGR2_chr17_78163581_78177720	78175213	A A	AGGTGGGT others(533): Show AGGTGGGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTAGCACGGGTGAA AGTTTTATTTCAGACATGGAGTAAAAAAAAAAGTTGATTCGATCTAAATT TCCTAAGATGAGGCTAAATAGGAAGAAAGATACTGTTAAAACTATTCAAT TACAGAACTGATTAGTTTTACGAGTCTTTAAAGCTGCAACTTTCTTACTA TGTAGCTTTATCCTGGAACCAAGAGCCATCCCTACCATGTCAAGTGTAGG CCCTTAATTAGAAATGATAAGTAACATTATTTGGGGAGTTAATCAGAAAA CCAAACAAAAAGCTCCGTTTTTGTTTTGTGTTTTCTTTCTTCTTTCTTTT TTTTTTTTTTTTTAATTTATTTATTTTTTTTTTATTGATCATTCTTGGGC GTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGA AGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGA GGACCCTGCGGCCTTGGCCTTCCGCAGTGTTTGTGTCCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	450	0.0022	540	c.32 others(551): Show c.3277_*3278insGGTGGGTTTTTCTTTTTTTTTTTTTTTTTTTTTT TTTAGCACGGGTGAAAGTTTTATTTCAGACATGGAGTAAAAAAAAAAGTT GATTCGATCTAAATTTCCTAAGATGAGGCTAAATAGGAAGAAAGATACTG TTAAAACTATTCAATTACAGAACTGATTAGTTTTACGAGTCTTTAAAGCT GCAACTTTCTTACTATGTAGCTTTATCCTGGAACCAAGAGCCATCCCTAC CATGTCAAGTGTAGGCCCTTAATTAGAAATGATAAGTAACATTATTTGGG GAGTTAATCAGAAAACCAAACAAAAAGCTCCGTTTTTGTTTTGTGTTTTC TTTCTTCTTTCTTTTTTTTTTTTTTTTTAATTTATTTATTTTTTTTTTAT TGATCATTCTTGGGCGTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGG ACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTG GTTTTCCTAGGCAGAGGACCCTGCGGCCTTGGCCTTCCGCAGTGTTTGTG TCCCTG		SYNGR2	ENSG00000108639.8	transcript	ENST00000225777.8	protein_coding					2494		chr17	TogoVar
TENM4_chr11_78647829_79446030	79139529	C C	CTAGAAAT others(533): Show CTAGAAATATATAAAATATATATTATATTTCTAGAAATATATAAAATATA TATTATATTTCTAGAAATATATAAAATATATATTATATTTCTAGAAATAT ATAAAATATATATTATATTTCTAGAAATATATAAAATATATATTATATTT CTAGAAATATATAAAATATATATTATATTTCTAGAAATATATAAAATATA TATTATATTTCTAGAAATATATAAAATATATATTATATTTCTAGAAATAT ATAAAATATATATTATATTTCTAGAAATATATAAAATATATATTATATTT CTAGAAATATATAAAATATATATTATATTTCTAGAAATATATAAAATATA TATTATATTTCTAGAAATATATAAAATATATATTATATTTCTAGAAATAT ATAAAATATATATTATATTTCTAGAAATATATAAAATATATATTATATTT ATAGAAATATATAAAATATATATTATATTTATAGAAATATATAAAATATA TATTATATTTATAGAAATATATAAAATATATATTATATTTA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0044 a0001c0008t0005g0044	1	94	0.0106	540	c.-66 others(557): Show c.-66+9180_-66+9181insTAAATATAATATATATTTTATATATTTC TATAAATATAATATATATTTTATATATTTCTATAAATATAATATATATTT TATATATTTCTATAAATATAATATATATTTTATATATTTCTAGAAATATA ATATATATTTTATATATTTCTAGAAATATAATATATATTTTATATATTTC TAGAAATATAATATATATTTTATATATTTCTAGAAATATAATATATATTT TATATATTTCTAGAAATATAATATATATTTTATATATTTCTAGAAATATA ATATATATTTTATATATTTCTAGAAATATAATATATATTTTATATATTTC TAGAAATATAATATATATTTTATATATTTCTAGAAATATAATATATATTT TATATATTTCTAGAAATATAATATATATTTTATATATTTCTAGAAATATA ATATATATTTTATATATTTCTAGAAATATAATATATATTTTATATATTTC TAGAAATATAATATATATTTTATATATTTCTAGAAATATAATATATATTT TATATATTTCTA		TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33						chr11	TogoVar
TK1_chr17_78169091_78192052	78175213	A A	AGGTGGGT others(533): Show AGGTGGGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTAGCACGGGTGAA AGTTTTATTTCAGACATGGAGTAAAAAAAAAAGTTGATTCGATCTAAATT TCCTAAGATGAGGCTAAATAGGAAGAAAGATACTGTTAAAACTATTCAAT TACAGAACTGATTAGTTTTACGAGTCTTTAAAGCTGCAACTTTCTTACTA TGTAGCTTTATCCTGGAACCAAGAGCCATCCCTACCATGTCAAGTGTAGG CCCTTAATTAGAAATGATAAGTAACATTATTTGGGGAGTTAATCAGAAAA CCAAACAAAAAGCTCCGTTTTTGTTTTGTGTTTTCTTTCTTCTTTCTTTT TTTTTTTTTTTTTAATTTATTTATTTTTTTTTTATTGATCATTCTTGGGC GTTTCTCGCAGAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGA AGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGA GGACCCTGCGGCCTTGGCCTTCCGCAGTGTTTGTGTCCCTG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	446	0.0022	540	c.394 others(553): Show c.394-45_394-44insCAGGGACACAAACACTGCGGAAGGCCAAGGCC GCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATC TGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCCCTCT GCGAGAAACGCCCAAGAATGATCAATAAAAAAAAAATAAATAAATTAAAA AAAAAAAAAAAAAGAAAGAAGAAAGAAAACACAAAACAAAAACGGAGCTT TTTGTTTGGTTTTCTGATTAACTCCCCAAATAATGTTACTTATCATTTCT AATTAAGGGCCTACACTTGACATGGTAGGGATGGCTCTTGGTTCCAGGAT AAAGCTACATAGTAAGAAAGTTGCAGCTTTAAAGACTCGTAAAACTAATC AGTTCTGTAATTGAATAGTTTTAACAGTATCTTTCTTCCTATTTAGCCTC ATCTTAGGAAATTTAGATCGAATCAACTTTTTTTTTTACTCCATGTCTGA AATAAAACTTTCACCCGTGCTAAAAAAAAAAAAAAAAAAAAAAAAAGAAA AACCCACC		TK1	ENSG00000167900.12	transcript	ENST00000301634.12	protein_coding	5/6						chr17	TogoVar
TMPRSS2_chr21_41459305_41513158	41474314	A A	AGTGAGGA others(533): Show AGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGG TGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTG AGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGG TGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTG AGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAGG TGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTG GGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGG TGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTG AGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAG TGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTG AGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGG	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0006 a0001c0011t0006	a0001c0011t0006g0029 a0001c0011t0006g0029	1	382	0.0026	540	c.728 others(555): Show c.728-819_728-818insCCACCCCCTCACTCACTCCCTCACCCCCTC ACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCAC CCACCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCACTCACCCCCTC ACCTCCTCACTCACCCCCTCACCTCCTCACCCACCCCCTCACTCACTCCC TCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTC ACCTCCTCACCCACCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCAC TCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACCCACCCCCTC ACTCACTCCCTCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCAC TCACCCCCTCACCTCCTCACCCACCCCCTCACTCACTCCCTCACCCCCTC ACCCCCTCACTCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCAC TCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTC ACCTCCTCAC		TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13						chr21	TogoVar
TNS1_chr2_217794791_218007995	217809316	C C	CATGGATG others(533): Show CATGGATGGATGGATGGATGCATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGCATGGATGGATGGATGGATGGATGCATGGATGGATGGATG GATGGATGGATGGATAGGTGCATGGATGGATGCATGGATGGATGGATGGA TGGATGGATGGATGCATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATAGGTGCATGGATGGATGCATGGATGGATGCATGGATGGA TGGATGGATGGATGGATGGATGGATGCATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGCATGGATGGATGGATAGGTGCATGGATGGA TGGATGGATGGATGGATGGATGGATAGGTGCATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGCATGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATGCATGGATGGATGGATGGATGGATGGATGGATG GATGGATGCATGGATGGATGGATGGATGGATGCATGGATGG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0131 a0002c0003t0002g0131	1	244	0.0041	540	c.527 others(557): Show c.5273+506_5273+507insCCATCCATGCATCCATCCATCCATCCAT CCATGCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATGCACCTATCCATCCATCC ATCCATCCATCCATCCATCCATGCACCTATCCATCCATCCATGCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATCC ATCCATCCATCCATCCATCCATGCATCCATCCATGCATCCATCCATGCAC CTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGC ATCCATCCATCCATCCATCCATCCATCCATGCATCCATCCATGCACCTAT CCATCCATCCATCCATCCATCCATCCATGCATCCATCCATCCATCCATCC ATGCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCAT CCATCCATCCAT		TNS1	ENSG00000079308.21	transcript	ENST00000682258.1	protein_coding	30/32						chr2	TogoVar
TOP1MT_chr8_143304324_143339880	143321874	C C	CAGGCACG others(533): Show CAGGCACGCCACACGCACGCCACACACGCATGCCACACACACGCACGCCA CACACGCATGCCACACACAGCCACGCCACACACACACGCCACACACACAC AGGCACGCCACACACGCACGCCACACACACGCATGCCACACACACGCCAC ACACACAGGCACGCCACACACAGGCACGCCACACACGCACGCCACACACG CACGCCACACACGCACGCCACACACGCACGCCACACACAGGCACGCCACA CACGCACGCCACACACACACGCACGCCACACACACGCACGCCACAAACGC ACGCCACACACGCACGCCACACACGCACGCCAGCCACACACGCACGCCAC ACACGAACGCCACACAAACGCCACACACACGAATGCCACACGCACACCAC ACACGCACGCCACACACGCACGCCACACACGCACGCCACACACAGGCATG CCACACACATGCACGCCACACACAGGCACGCCACACACGCACGCCACACA CAGGCATGCCAAACACGCACGCCACACATGCATGCCACACA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	430	0.0023	540	c.961 others(555): Show c.961-489_961-488insTGTGTGGCATGCATGTGTGGCGTGCGTGTT TGGCATGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGGCGTG CATGTGTGTGGCATGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGT GGCGTGCGTGTGTGGTGTGCGTGTGGCATTCGTGTGTGTGGCGTTTGTGT GGCGTTCGTGTGTGGCGTGCGTGTGTGGCTGGCGTGCGTGTGTGGCGTGC GTGTGTGGCGTGCGTTTGTGGCGTGCGTGTGTGTGGCGTGCGTGTGTGTG TGGCGTGCGTGTGTGGCGTGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCG TGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGGCG TGCCTGTGTGTGTGGCGTGTGTGTGGCATGCGTGTGTGTGGCGTGCGTGT GTGGCGTGCCTGTGTGTGTGTGGCGTGTGTGTGTGGCGTGGCTGTGTGTG GCATGCGTGTGTGGCGTGCGTGTGTGTGGCATGCGTGTGTGGCGTGCGTG TGGCGTGCCT		TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13						chr8	TogoVar
TOP1MT_chr8_143304324_143339880	143321874	C C	CAGGCACG others(533): Show CAGGCACGCCACACGCACGCCACACACGCATGCCACACACACGCACGCCA CACACGCATGCCACACACAGCCACGCCACACACACACGCCACACACACAC AGGCACGCCACACACGCACGCCACACACACGCATGCCACACACACGCCAC ACACACAGGCACGCCACACACAGGCACGCCACACACGCACGCCACACACG CACGCCACACACGCACGCCACACACGCACGCCACACACAGGCACGCCACA CACGCACGCCACACACACGCACGCCACACACACACGCACGCCACACACAC GCACGCCACAAACGCACGCCACACACGCACGCCAGCCACACACGCACGCC ACACACGAACGCCACAAACGCCACACACACGAATGCCACACGCACACCAC ACACGCACGCCACACACGCACGCCACACACGCACGCCACACACAGGCATG CCACACACATGCACGCCACACACAGGCACGCCACACACGCACGCCACACA CAGGCATGCCAAACACGCACGCCACACATGCATGCCACACA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02129.hp2 HG02071.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	2	430	0.0047	540	c.961 others(555): Show c.961-489_961-488insTGTGTGGCATGCATGTGTGGCGTGCGTGTT TGGCATGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGGCGTG CATGTGTGTGGCATGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGT GGCGTGCGTGTGTGGTGTGCGTGTGGCATTCGTGTGTGTGGCGTTTGTGG CGTTCGTGTGTGGCGTGCGTGTGTGGCTGGCGTGCGTGTGTGGCGTGCGT TTGTGGCGTGCGTGTGTGTGGCGTGCGTGTGTGTGTGGCGTGCGTGTGTG TGGCGTGCGTGTGTGGCGTGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCG TGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGGCG TGCCTGTGTGTGTGGCGTGTGTGTGGCATGCGTGTGTGTGGCGTGCGTGT GTGGCGTGCCTGTGTGTGTGTGGCGTGTGTGTGTGGCGTGGCTGTGTGTG GCATGCGTGTGTGGCGTGCGTGTGTGTGGCATGCGTGTGTGGCGTGCGTG TGGCGTGCCT		TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13						chr8	TogoVar
TP53AIP1_chr11_128930370_128947871	128930685	G G	GGTTAGGG others(533): Show GGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTCA GGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGG AGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACC AAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGG GTTAGGGAGGCCGGGGTTAGAGAGGCCGGGGTTAGGGAGACCAAGGGTCA GGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGA GGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGC CGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTTAGGGAGGCCAGG GTAGGGAGGCTGGGGGTTAGGAAGGCCGGGGTTAGGGAGACCAAGGGTCA GGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGA GGCCGGGGTTAGAGAGGCCAGGGGTTAGGGAGGCCAGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0017	1	466	0.0022	540	c.49 others(551): Show c.4905_*4906insACCCCTGGCCTCCCTAACCCCTGGCCTCTCTAAC CCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCTG GCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTTCCTAACCCCCAGCC TCCCTACCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCCCGGCCTCCCT AACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAAC CCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTG GCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCTCTAACCCCGGCCT CCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCT GACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACC CCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTG GTCTCCCTGACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTC CCTAAC		TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding					4684		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930685	G G	GGTTAGGG others(533): Show GGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTA GGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGG AGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACC AAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGG GTTAGGGAGGCCGGGGTTAGAGAGGCCGGGGTTAGGGAGACCAAGGGTCA GGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGA GGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGC CGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTTAGGGAGGCCAGG GTAGGGAGGCTGGGGGTTAGGAAGGCCGGGGTTAGGGAGACCAAGGGTCA GGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGA GGCCGGGGTTAGAGAGGCCAGGGGTTAGGGAGGCCAGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG01081.hp1 HG01106.hp1 others(4): Show HG00597.hp2 HG01081.hp1 HG01106.hp1 HG01943.hp1 HG02293.hp1 HG03669.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0001 a0001c0001t0004 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0011 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0093 a0001c0001t0004g0035 a0001c0001t0011g0041	7	466	0.0150	540	c.49 others(551): Show c.4905_*4906insACCCCTGGCCTCCCTAACCCCTGGCCTCTCTAAC CCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTG GCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTTCCTAACCCCCAGCC TCCCTACCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCCCGGCCTCCCT AACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAAC CCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTG GCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCTCTAACCCCGGCCT CCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCT GACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACC CCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTG GTCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTC CCTAAC		TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding					4684		chr11	TogoVar
TPSD1_chr16_1251069_1264008	1258679	C C	CTGAGCCC others(533): Show CTGAGCCCCCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCCCCTGC TCCATCCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTCTTGAGC CCCTCATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCCCCATCC TGGGCCCCCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCCTCC CCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAGT CCCTCCTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCCTCCTCCACCC TCAGCCCCCTCCCCTTTCTTGAGCCCCTCCTCCACCCTCAGCCCCCTCCC CTTTCTTGAGCCCCTCCCCCACCCTGAGCCCCCTCCCCTTTCTTGAGTCC CTCCTCCACCCTCAGCCCCCTCCCCTTTCTTGAGCCCCTCCTCCACCCTC AGCCCCCTCCCCTTTCTTGAGCCCCTCCCCCACCCTGAGCCCCCTCCCCT TTCTTGAGCCCCTCCTCCACCCTCAGCCCCCTCCCCTTTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02922.hp1 NA19240.hp1 HG02922.hp1 NA19240.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0027 a0002c0012t0027	a0002c0012t0027g0002 a0002c0012t0027g0002	2	270	0.0074	540	c.31 others(549): Show c.311_*312insCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCC CCTGCTCCATCCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTCT TGAGCCCCTCATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCCC CATCCTGGGCCCCCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCC CCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCT TGAGTCCCTCCTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCCTCCTC CACCCTCAGCCCCCTCCCCTTTCTTGAGCCCCTCCTCCACCCTCAGCCCC CTCCCCTTTCTTGAGCCCCTCCCCCACCCTGAGCCCCCTCCCCTTTCTTG AGTCCCTCCTCCACCCTCAGCCCCCTCCCCTTTCTTGAGCCCCTCCTCCA CCCTCAGCCCCCTCCCCTTTCTTGAGCCCCTCCCCCACCCTGAGCCCCCT CCCCTTTCTTGAGCCCCTCCTCCACCCTCAGCCCCCTCCCCTTTCTTGAG CCCC		TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding	5/5				312	INFO_REALIGN_3_PRIME	chr16	TogoVar
TTLL10_chr1_1168880_1202936	1184655	G G	GGCCTTCT others(533): Show GGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGACAGG CCCTCCAGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGCCCCCAGTT CATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTG AGGACAGGCCCTCCAGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGC CCCCAGTTCATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGA CCCCCGTGAGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCA CCGTGTGCCCCCAGTTCATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCT CTTGGGGACCCCCGTGAGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTC TCCAGGCACCGTGTGCCCCCAGTTCATGCAGAAGCCTTCTAGGTTAGGGG GATGTTCTCTTGGGGACCCCCGTGAGGACAGGCCCTCCGGACAGTCTGGG AGCCAGTCTCCAGGCACCGTGTGCCCCCAGTTCATGCAGAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0057 a0004c0004t0004g0057	1	382	0.0026	540	c.126 others(557): Show c.1261-259_1261-258insAGACAGTCTGGGAGCCAGTCTCCAGGCA CCGTGTGCCCCCAGTTCATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCT CTTGGGGACCCCCGTGAGGACAGGCCCTCCAGACAGTCTGGGAGCCAGTC TCCAGGCACCGTGTGCCCCCAGTTCATGCAGAAGCCTTCTAGGTTAGGGG GATGTTCTCTTGGGGACCCCCGTGAGGACAGGCCCTCCGGACAGTCTGGG AGCCAGTCTCCAGGCACCGTGTGCCCCCAGTTCATGCAGAAGCCTTCTAG GTTAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGACAGGCCCTCCGGAC AGTCTGGGAGCCAGTCTCCAGGCACCGTGTGCCCCCAGTTCATGCAGAAG CCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGACAGGCC CTCCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGCCCCCAGTTCA TGCAGAAGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTGAG GACAGGCCCTCC		TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr1	TogoVar

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Search Results (Total: 10000 hits)