Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GMDS_chr6_1618806_2250605	1927217	A A	AGAGGGTA others(561): Show AGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGATGT ATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGC GTGTTGATGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTC AGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGATGT ATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCGAAGGGTAGC GTGTTGGTGTATTTTATTCAGAGGGTAGCATGTTGGTGTATTTTTATTCA GAGGGTAGCATGTTGATGTATTTTTATTCAGAGGGTAGCATGTTGGTGTA TTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGGG TGTTGCTGTATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCA GAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGCTGTA TTTTTATTCGGAGGGTAGCATGTTGCTGTATTTTGATTCAGAGGGTAGCG TGTTGGTGTATTTTATTCG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02559.hp2 HG02615.hp2 others(11): Show HG02451.hp2 HG02559.hp2 HG02615.hp2 HG02717.hp2 HG02818.hp1 HG02922.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0070 others(11): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0070 a0001c0001t0001g0091 a0001c0001t0001g0149 a0001c0001t0002g0004 a0001c0001t0002g0043 a0001c0001t0002g0072 a0001c0001t0002g0121 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0117 a0001c0002t0002g0059 a0002c0003t0001g0001	14	166	0.0843	568	c.771 others(585): Show c.771+2885_771+2886insCGAATAAAATACACCAACACGCTACCCT CTGAATCAAAATACAGCAACATGCTACCCTCCGAATAAAAATACAGCAAC ACGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAA ATACACCAACACGCTACCCTCTGAATAAAAATACAGCAACACCCTACCCT CTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACACCAAC ATGCTACCCTCTGAATAAAAATACATCAACATGCTACCCTCTGAATAAAA ATACACCAACATGCTACCCTCTGAATAAAATACACCAACACGCTACCCTT CGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACATCAACA CGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAA TACACCAACACGCTACCCTCTGAATAAAAATACATCAACACGCTACCCTC TGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACATCAACA CGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTC	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1927226	C C	CGTGTTGG others(561): Show CGTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGATGTATTTTTATT CAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGATG TATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAG CGTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGATGTATTTTTATT CAGAGGGTAGCGTGTTGGTGTATTTTTATTCGAAGGGTAGCGTGTTGGTG TATTTTATTCAGAGGGTAGCATGTTGGTGTATTTTTATTCAGAGGGTAGC ATGTTGATGTATTTTTATTCAGAGGGTAGCATGTTGGTGTATTTTTATTC AGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGGGTGTTGCTGT ATTTTTATTCAGAGGGTAGCGTGTTGGTGTATTTTTATTCAGAGGGTAGC GTGTTGGTGTATTTTTATTCAGAGGGTAGCGTGTTGCTGTATTTTTATTC GGAGGGTAGCATGTTGCTGTATTTTGATTCAGAGGGTAGCGTGTTGGTGT ATTTTATTCGGAGGGTAGA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0103 a0001c0002t0001g0103	1	166	0.0060	568	c.771 others(585): Show c.771+2876_771+2877insTCTACCCTCCGAATAAAATACACCAACA CGCTACCCTCTGAATCAAAATACAGCAACATGCTACCCTCCGAATAAAAA TACAGCAACACGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTC TGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACAGCAACA CCCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAA TACACCAACATGCTACCCTCTGAATAAAAATACATCAACATGCTACCCTC TGAATAAAAATACACCAACATGCTACCCTCTGAATAAAATACACCAACAC GCTACCCTTCGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAAT ACATCAACACGCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCT GAATAAAAATACACCAACACGCTACCCTCTGAATAAAAATACATCAACAC GCTACCCTCTGAATAAAAATACACCAACACGCTACCCTCTGAATAAAAAT ACATCAACACGCTACCCTCTGAATAAAAATACACCAACAC	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GPATCH2_chr1_217421992_217636090	217524869	G G	GGGAGAGG others(561): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	188	0.0053	568	c.109 others(587): Show c.1099-9981_1099-9980insTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC	GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9			chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33322434	A A	ATATGGAA others(561): Show ATATGGAATATATATATGGAATATATACATGGAATATATGTATATGGAAT ATATACATGGAATATATGTATATGGAATATATACATGGAATATATGTATA TGGAATATATACATGGAATATATGTATATGGAATATATACATGGAATATA TATATGGAATATATACATGGAATATATATATGGAATATATACATGGAATA TATATATATGGAATATATACATGGAATATATATATATGGAATATATACAT GGAATATATATATATGGAATATATACATGGAATATATATATATGGAATAT ATACATGGAATATATATATATGGAATATATATATGGAATATATACATGGA ATATATACATGGAATATATACATGGAACATATATATATGGAACATATACG GAATATATATATGGAATATATATACGGAATATATATATATATGGAATATA TATACGGAATATATATATGGAATATATATACGGAATATATATATATGGAA TATATATACGGAATATATATATGGAATATATATACGGAATATATATATGG AATATATATACGGAATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0182	1	323	0.0031	568	c.-26 others(579): Show c.-2622_-2621insTATGGAATATATATATGGAATATATACATGGAAT ATATGTATATGGAATATATACATGGAATATATGTATATGGAATATATACA TGGAATATATGTATATGGAATATATACATGGAATATATGTATATGGAATA TATACATGGAATATATATATGGAATATATACATGGAATATATATATGGAA TATATACATGGAATATATATATATGGAATATATACATGGAATATATATAT ATGGAATATATACATGGAATATATATATATGGAATATATACATGGAATAT ATATATATGGAATATATACATGGAATATATATATATGGAATATATATATG GAATATATACATGGAATATATACATGGAATATATACATGGAACATATATA TATGGAACATATACGGAATATATATATGGAATATATATACGGAATATATA TATATATGGAATATATATACGGAATATATATATGGAATATATATACGGAA TATATATATATGGAATATATATACGGAATATATATATGGAATATATATAC GGAATATATATATGGAATATATATACGGAATATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2535		chr21	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(561): Show TAAGAAAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0147 a0002c0003t0001g0147	1	308	0.0033	568	c.127 others(587): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(561): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCAAACCACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCC ACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTC CCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCAC CTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCC CTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTCC TCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCC CCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCT CCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTC CTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGTCTT CCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCCCC CACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	252	0.0040	568	c.10- others(585): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CAAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCC ACCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCC TCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCT CCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCC TGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCT CCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCC CCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTC CCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCC CTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCC CCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(561): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCC ACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTC CCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCA CCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCC CCTCCTCTCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCTCCTCC TCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCTC CCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCCCTCCCCCT CCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTC CTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGTCTT CCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCCCC CACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0077 a0001c0001t0009g0077	1	252	0.0040	568	c.10- others(585): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCC ACCTCCTCCTCCTCCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTC CTCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCC TCCTCCTCTCCCCCCCTCCTCTCCCCCCTCCTCCCCCCTCCTCCTCCTCC TGCTCTCCTCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCT CCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTC CCCCCCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTC CCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCC CTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCC CCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(561): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCC ACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTC CCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCAC CTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCC CTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTCC TCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCTC CCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCC TCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCT CCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGTCT TCCTCCCCCACCTCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCCCC CACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0180	1	252	0.0040	568	c.10- others(585): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCC ACCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCC TCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCT CCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCC TGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCT CCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTC CCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCT CCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCC CCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCTCCTCCCACTCCTCCTCC CCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(561): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCC ACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTC CCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCAC CTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCC CTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTCC TCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCC CCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCT CCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTC CTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGTCTT CCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCCCC CACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp1 HG00673.hp1 others(31): Show HG00099.hp1 HG00558.hp1 HG00673.hp1 HG01069.hp2 HG01346.hp2 HG01361.hp1 HG01516.hp1 HG01934.hp1 HG01943.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02074.hp1 HG02083.hp2 HG02132.hp2 HG02273.hp1 HG02602.hp1 HG03491.hp1 HG03669.hp1 HG03688.hp1 HG04115.hp2 HG04199.hp1 HG06807.hp2 NA18945.hp1 NA18950.hp2 NA18955.hp1 NA18968.hp1 NA18970.hp1 NA18979.hp2 NA18983.hp2 NA19001.hp2 NA19004.hp1 NA19056.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0010 a0001c0001t0002 a0001c0001t0007 a0001c0001t0010	a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0017 others(30): Show a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0028 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0056 a0001c0001t0002g0063 a0001c0001t0002g0080 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0118 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0148 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0207 a0001c0001t0002g0222 a0001c0001t0007g0001 a0001c0001t0010g0026	34	252	0.1349	568	c.10- others(585): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCC ACCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCC TCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCT CCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCC TGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCT CCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCC CCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTC CCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCC CTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCC CCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(561): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCC ACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTC CCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCAC CTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCC CTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTCC TCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCC CCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCT CCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCGCTC CTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGTCTT CCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCCCC CACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01934.hp2 HG01978.hp2 others(2): Show HG00738.hp1 HG01934.hp2 HG01978.hp2 HG02273.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0089 a0001c0001t0002g0110 others(2): Show a0001c0001t0002g0011 a0001c0001t0002g0089 a0001c0001t0002g0110 a0001c0001t0002g0114 a0001c0001t0002g0116	5	252	0.0198	568	c.10- others(585): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCC ACCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCC TCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCT CCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCC TGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCT CCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCC CCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTC CCCCCTCCCCGCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCC CTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCC CCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(561): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCC ACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTC CCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCAC CTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCC CTCCTCTCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTCCT CCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCC CCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCCTCCCCCCTCCTCCCCCT CCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTC CTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGTCTT CCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCCCC CACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0177	1	252	0.0040	568	c.10- others(585): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCC ACCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCC TCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCT CCTCCTCTCCCCCCCTCCTCTCCCCCCTCCTCCCCCCTCCTCCTCCTCCT GCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTC CCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCCTCC CCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTC CCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCC CTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCC CCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(561): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCC ACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTC CCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCAC CTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCC TCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTCCT CCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCTCC CCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCT CCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTC CTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGTCTT CCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCCCC CACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	252	0.0040	568	c.10- others(585): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCC ACCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCC TCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCT CCTCCTCTCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCT GCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTC CCCCCTCCTCCTCCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTC CCCCCTCCTCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTC CCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCC CTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCC CCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAZN_chr1_14593685_15123043	14652486	T T	TCTGCCTA others(561): Show TCTGCCTATCCATCCACCCACCCACCCGCCCATCCACCTATCCACCTATC TACCTATCCGCCTATCCATCCACCCACCCACCCATCCATCTGCCTATACA TCCACCCACCCACCCACCCACCTGTCCATCCACCCACCCACCCACCCATC CACCTCTCCATCCACCCACCCACCCACCCATCCACCTGTCCATCCATCCA CCCACCCACCCATCCACCTATCCACCCACCCACCCATCCATCTGCCTATA CATCCACCCACCCACCCACCCACCTGTCCATCCACCCACCCACCCACCCA TCCACCTCTCCATCCACCCACCCACCCACCCATCCACCTGTCCATCCACC CACCCACCCACCCATCCACCTGTCCATCCATCCACCCACCCACCCATCCA CCTATCCACCCACCCACCCACCCATCCACCTCTCCATCCACCCACCCACC CACCCATCCACCTGTCCATCCACCCACCCACCCACCCATCCACCTGTCCA TCCATCCACCCACCCAACCATCCACCTATCCATCCACTCACCCACCCATC CACCTGTCCATCCACCCAC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0002 a0001c0003t0002g0002	1	146	0.0069	568	c.226 others(587): Show c.226+53264_226+53265insTGCCTATCCATCCACCCACCCACCCG CCCATCCACCTATCCACCTATCTACCTATCCGCCTATCCATCCACCCACC CACCCATCCATCTGCCTATACATCCACCCACCCACCCACCCACCTGTCCA TCCACCCACCCACCCACCCATCCACCTCTCCATCCACCCACCCACCCACC CATCCACCTGTCCATCCATCCACCCACCCACCCATCCACCTATCCACCCA CCCACCCATCCATCTGCCTATACATCCACCCACCCACCCACCCACCTGTC CATCCACCCACCCACCCACCCATCCACCTCTCCATCCACCCACCCACCCA CCCATCCACCTGTCCATCCACCCACCCACCCACCCATCCACCTGTCCATC CATCCACCCACCCACCCATCCACCTATCCACCCACCCACCCACCCATCCA CCTCTCCATCCACCCACCCACCCACCCATCCACCTGTCCATCCACCCACC CACCCACCCATCCACCTGTCCATCCATCCACCCACCCAACCATCCACCTA TCCATCCACTCACCCACCCATCCACCTGTCCATCCACCCACC	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIAA0930_chr22_45187244_45245894	45228775	C C	CCCCCAAC others(561): Show CCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCCAACC ACCACTCACCCGAAAGATCCCTCTCCACCCCCGCCATCACCACTCACCCG AAAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTC CACCCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCCA ACCACCACTCACCCGAAAGATCCCTCTCCACCCCCGCCATCACCACTCAC CCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGATCCCT CTCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAA CCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCAAACACTC ACCTGAGAGATCCCTCTCCACCCCCGCCACCACCACTCACCCGAAAGATC CCTCTCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCCACCCCC CAACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCA CCCGAAAGATCCCTCTCCA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0013 a0001c0001t0072g0013	1	398	0.0025	568	c.64+ others(585): Show c.64+11864_64+11865insTGGAGAGGGATCTTTCGGGTGAGTGGTG GTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGA GAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCG GGTGAGTGGTGGTGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTG GTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGT GGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTT TCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGT GATGGCGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTG GAGAGGGATCTCTCAGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGAT CTTTCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGT GGTGATGGCGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGG GTGGAGAGGGATCTCTCAGGTGAGTGTTTGGTGGTTGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(561): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCCTC TCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	370	0.0027	568	c.-27 others(579): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGGAGAGTGAGG GAGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LGR6_chr1_202188799_202324761	202205137	C C	CACACACT others(561): Show CACACACTCCTCCAAACACACACACACCTAACACACACCTCCTCCAAACA CACACACACCTCCAAACACACACACACCTAACACACACCTCCTTCAAACA CACACACCTAACACACCCGTCCTTCAAACACACACACACCACACACACAC ATCTAACACACACCTCCTTCAGACACACACCTCCAAACACACACACACCT TACACACACCTTCAAACACACACACACACCTAACACACACCTCCTTCAAA CACACACACCTCCAAACACACACATCTAACACACACCTCCTTCAAACACA CACACACCTCCACACACACACACACACACACCTAACACACACCTCCTTCA AACACACACACCTCCAAACACACACACACCTAACACACAGCTTCTTCAAA CACACACACACCTCCAAACACACACACACCTAACACACACCTCCTTCAAA CACACAAACCTCCAGCACACACACCTAACACACACCTCCTTCAAACACAC ACCTCCACACACACACACACCTAACACACACCTCCTTCAAACACACACAC CTCCAAACACACACACCTA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01099.hp2 HG01243.hp1 others(11): Show HG00673.hp1 HG01099.hp2 HG01243.hp1 HG01257.hp2 HG01993.hp1 HG02074.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02273.hp2 HG03239.hp2 HG03654.hp1 HG03831.hp1 NA19088.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0004 a0004c0003 a0001c0001 a0003c0004 a0004c0003	a0001c0001t0001 a0003c0004t0001 a0004c0003t0002 a0001c0001t0001 a0003c0004t0001 a0004c0003t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(11): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0003c0004t0001g0221 a0003c0004t0001g0222 a0004c0003t0002g0102	14	262	0.0534	568	c.212 others(587): Show c.212+10942_212+10943insTCCTCCAAACACACACACACCTAACA CACACCTCCTCCAAACACACACACACCTCCAAACACACACACACCTAACA CACACCTCCTTCAAACACACACACCTAACACACCCGTCCTTCAAACACAC ACACACCACACACACACATCTAACACACACCTCCTTCAGACACACACCTC CAAACACACACACACCTTACACACACCTTCAAACACACACACACACCTAA CACACACCTCCTTCAAACACACACACCTCCAAACACACACATCTAACACA CACCTCCTTCAAACACACACACACCTCCACACACACACACACACACACCT AACACACACCTCCTTCAAACACACACACCTCCAAACACACACACACCTAA CACACAGCTTCTTCAAACACACACACACCTCCAAACACACACACACCTAA CACACACCTCCTTCAAACACACAAACCTCCAGCACACACACCTAACACAC ACCTCCTTCAAACACACACCTCCACACACACACACACCTAACACACACCT CCTTCAAACACACACACCTCCAAACACACACACCTAACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
LHPP_chr10_124456823_124619141	124471472	T T	TATTTTAT others(561): Show TATTTTATATATATTTATATATATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATATATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATATT TATATATATTTATGTATATTTATATATATTTATATATTTATGTATATATT TATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATT TATATATATATTTATATGTATTTATATATATTTATATATTTATATGTATT TATACATATATATTTATATGTATTTATATATATTTATATATATTTTTTAT GTATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATGTATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATATTTATATATATTTATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	260	0.0039	568	c.125 others(585): Show c.125+9485_125+9486insATTTTATATATATTTATATATATATAAA TTTTTTTATATTTATATATTTTTTATATATTTATATATATTACATATATT TTTATATTTTATATATATTTATATATTTTATATATTTATATATTTTTTAT ATATTTATATATTTATATATATATTTATATATATTTATGTATATTTATAT ATATATTTATATATATTTATGTATATTTATATATATATTTATATATATTT ATGTATATTTATATATATATTTATATATATTTATGTATATTTATATATAT TTATATATTTATGTATATATTTATATATATTTATATATTTATGTATAAAT TTATATATATTTATATGTATTTATATATATATTTATATGTATTTATATAT ATTTATATATTTATATGTATTTATACATATATATTTATATGTATTTATAT ATATTTATATATATTTTTTATGTATTTATATATATTTATATATATATTTA TATATATTTATATATATATTTATGTATATTTATATATATATTTATATATA TTTATATATATATTTATATATATATTTATATATATTTATA	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6			chr10	TogoVar
LHPP_chr10_124456823_124619141	124471472	T T	TATTTTAT others(561): Show TATTTTATATATATTTATATATATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATATATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATTTA TATATTTATGTATATATTTATATATATTTATATATTTATGTATAAATTTA TATATATTTATATGTATTTATATATATATTTATATGTATTTATATATTTA TATATTTATATGTATTTATACATATATATTTATATGTATTTATATATATT TATATATATTTTTTATGTATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	260	0.0039	568	c.125 others(585): Show c.125+9485_125+9486insATTTTATATATATTTATATATATATAAA TTTTTTTATATTTATATATTTTTTATATATTTATATATATTACATATATT TTTATATTTTATATATATTTATATATTTTATATATTTATATATTTTTTAT ATATTTATATATTTATATATATATTTATATATATTTATGTATATTTATAT ATATATTTATATATATTTATGTATATTTATATATATATTTATATATATTT ATGTATATTTATATATATTTATATATTTATGTATATATTTATATATATTT ATATATTTATGTATAAATTTATATATATTTATATGTATTTATATATATAT TTATATGTATTTATATATTTATATATTTATATGTATTTATACATATATAT TTATATGTATTTATATATATTTATATATATTTTTTATGTATTTATATATA TTTATATATATATTTATATATATTTATATATATATTTATATATATTTATA TATATATTTATATATATTTATATATATATTTATATATATATTTATATATA TATTTATATATATTTATATATATATTTATATATATTTATA	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6			chr10	TogoVar
LRRC27_chr10_132327193_132386508	132364368	T T	TACACCCA others(561): Show TACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACCCACA CTTACACCCACACTTACATCTACCTCCACACCCACACTCACACCCACCCA CACTTACACCCACCCTTACATCTACCACACCCACACTTACACCCACCCTT ACATCTACCACACCCACACTTACACCCACCCACACTTACACCCACACTTA CATCTACCTCCACACCCACACTTACACCCACCCTTACATCTACCTCCACA CCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTTACACC CACCCACACTTACACCCACACTTACATCTACCTCCACACCCACACTCACA CCCACCCACACTTACACCCACCCTTACATCTACCACACCCACACTTACAC CCACCCTTACATCTACCACACCCACACTTACACCCACCCACACTTACACC CACACTTACATCTACCTCCACACCCACACTTACACCCACCCTTACATCTA CCTCCACACCCACACTTACACCCACCCACACTTACACCCACACTTACATC TACCTCCACACCCACACTC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0121 a0001c0001t0045g0121	1	290	0.0035	568	c.129 others(587): Show c.1290-1046_1290-1045insTTACATCTACCTCCACACCCACACTT ACACCCACCCACACTTACACCCACACTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACCCTTACATCTACCACACCCACACT TACACCCACCCTTACATCTACCACACCCACACTTACACCCACCCACACTT ACACCCACACTTACATCTACCTCCACACCCACACTTACACCCACCCTTAC ATCTACCTCCACACCCACACTTACACCCACCCTTACATCTACCTCCACAC CCACACTTACACCCACCCACACTTACACCCACACTTACATCTACCTCCAC ACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCACA CCCACACTTACACCCACCCTTACATCTACCACACCCACACTTACACCCAC CCACACTTACACCCACACTTACATCTACCTCCACACCCACACTTACACCC ACCCTTACATCTACCTCCACACCCACACTTACACCCACCCACACTTACAC CCACACTTACATCTACCTCCACACCCACACTCACACCCACCC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LUC7L_chr16_183990_234449	186323	G G	GGAGGAAC others(561): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGA GGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACG GGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGGGGGAACAGCGA CACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGA GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAG CGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGGG AACAGCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0340 a0001c0001t0002g0340	1	350	0.0029	568	c.28 others(579): Show c.2874_*2875insTCCCTCCCGTGTCGCTGTTCCCCCCCCGTGTCGC TGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGT GTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCTC CGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTC CCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGT CGCTGTTCCTCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCCCCCG TGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCC CCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGT CGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCC GTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2666		chr16	TogoVar
MEX3D_chr19_1549672_1573325	1550069	C C	AACCCTCC others(561): Show AACCCTCCCATCCATCCACCCATCCATCCACCTGTCCACCCATCCACCCA TTCATCCACCCACCCACCCATCCATCCATCCATCCACCCATCCATTCACT CACCTGCCCATCCACCCATCCATGCACTCACCTGCCTATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCAATCATCCACCCACCCATC CATCCATCCATCCAACCATCCACCCACTCATCTATCCATCCATCCATCCA TCCATCCATCCATTTACCCACCCTCTCATCCATCCACCCACCCATCCACT TGTCCACCCATCCACCTGTTCACCCATCCACCCATCCATCCATCCATCCA ACCATCCACCCATCTATCCATCCATCCATCCAACCACTCATCCGTCCATC CATCCATCCATCCATCCATTTACCCACTCTCCCATCCACCCACCCATCGA CTTGTCCACCCATACACCTGTTCACCCATCCACCCATCCATCCATCCATC CATCCAACCATCCACCCATCCATCCATCCACCCATCCATCCATCCATCCA TCCATCCATCTATCCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0172	1	372	0.0027	568	c.54 others(579): Show c.5494_*5495insGGTGGATAGATGGATGGATGGATGGATGGATGGA TGGGTGGATGGATGGATGGGTGGATGGTTGGATGGATGGATGGATGGATG GGTGGATGGGTGAACAGGTGTATGGGTGGACAAGTCGATGGGTGGGTGGA TGGGAGAGTGGGTAAATGGATGGATGGATGGATGGATGGACGGATGAGTG GTTGGATGGATGGATGGATAGATGGGTGGATGGTTGGATGGATGGATGGA TGGGTGGATGGGTGAACAGGTGGATGGGTGGACAAGTGGATGGGTGGGTG GATGGATGAGAGGGTGGGTAAATGGATGGATGGATGGATGGATGGATGGA TAGATGAGTGGGTGGATGGTTGGATGGATGGATGGATGGGTGGGTGGATG ATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGG CAGGTGAGTGCATGGATGGGTGGATGGGCAGGTGAGTGAATGGATGGGTG GATGGATGGATGGATGGGTGGGTGGGTGGATGAATGGGTGGATGGGTGGA CAGGTGGATGGATGGGTGGATGGATGGGAGGGTT	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4603		chr19	TogoVar
MSR1_chr8_16102881_16197651	16189400	A A	ATATTTTA others(561): Show ATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAA ATCTTATTTTATATATATTTATATATATTTTTATATATATAAAATCTTAT TTTATATATTATATATATATAAAATCTTATTTTATATATTATATATATAT AAAATCTTATTTTATATATTATATATATATAAAATCTTATTTTATATATT ATATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTT ATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTTAT ATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTT TATATATATTTTATATATATAAAATCTTATTTTATATATATTTTATATAT ATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATA TATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAA AATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATA TTTTATATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0078 a0001c0001t0019g0078	1	330	0.0030	568	c.-5+ others(583): Show c.-5+3197_-5+3198insAGATTTTATATATATAAAATATATATAAAA TAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATA AAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAG ATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAAAT ATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTT TATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATATAT ATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATA TATATAAAATATATATAAAATAAGATTTTATATATATATAATATATAAAA TAAGATTTTATATATATATAATATATAAAATAAGATTTTATATATATATA ATATATAAAATAAGATTTTATATATATATAATATATAAAATAAGATTTTA TATATATAAAAATATATATAAATATATATAAAATAAGATTTTATATATAT AAAATATATATAAAATAAGATTTTATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ATATATAT others(561): Show ATATATATATGTTCATATATATTCATATATATGTTCATATATATATTCAT ATATATGTTCATATATATTCATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATGTTCATATATATATTCATATATATGTTCATATATATATTCATATAT ATGTTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATGTTCATATATATATATTCATATATATATGTTCATATATATGT TCATATATATATGTTCATATATATGTTCATATATATATGTTCATATATAT GTTCATATATATATGTTCATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	364	0.0028	568	c.394 others(583): Show c.394-608_394-607insTATATATATGTTCATATATATTCATATATA TGTTCATATATATATTCATATATATGTTCATATATATTCATATATATGTT CATATATATATTCATATATATATGTTCATATATATATTCATATATATATG TTCATATATATATTCATATATATGTTCATATATATATTCATATATATGTT CATATATATATTCATATATATGTTCATATATATATGTTCATATATATATT CATATATATATGTTCATATATATATTCATATATATATGTTCATATATATA TTCATATATATATGTTCATATATATATTCATATATATATGTTCATATATA TATTCATATATATATGTTCATATATATGTTCATATATATATATTCATATA TATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATA TATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCA TATATATATTCATATATATATGTTCATATATATATTCATATATATATGTT CATATATATATTCATATATATATGTTCATATATATATT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17			chr4	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(561): Show AATATATATATTTAAATATAAGTATATGTAAATATATATATTTCAATATA AGTATATGTAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATGTATA TAAATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAA TATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAA TATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATA AGTATGTATATAAATATATATATTTCAATATAAGTATATATAAAAATATA TATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTA TGTATAAAAATATATATATTTCAATATAAGTATGTATAAATATATATATT TCAATATAAGTATGTATAAATATATATATTTCAATATAAGTATATATAAA AATATATATATTTCAATATAAGTATATATAAAAATATATATATTTAAATA TAAGTATATATATAAAAAT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18960.hp1 NA18975.hp1 others(2): Show NA18939.hp2 NA18960.hp1 NA18975.hp1 NA18978.hp1 NA19064.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0006 a0001c0002 a0004c0006	a0001c0002t0001 a0001c0002t0002 a0004c0006t0004 a0001c0002t0001 a0001c0002t0002 a0004c0006t0004	a0001c0002t0001g0099 a0001c0002t0002g0101 a0004c0006t0004g0062 others(2): Show a0001c0002t0001g0099 a0001c0002t0002g0101 a0004c0006t0004g0062 a0004c0006t0004g0100 a0004c0006t0004g0123	5	326	0.0153	568	c.358 others(585): Show c.358+3191_358+3192insATTTAAATATAAGTATATGTAAATATAT ATATTTCAATATAAGTATATGTAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAAT ATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAA GTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATAT ATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGTAT ATATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATAT TTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTAT AAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATAT AAGTATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATAT ATATATTTAAATATAAGTATATATATAAAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690701	T T	TATATATA others(561): Show TATATATATTTATATATAAGTATATATATAAATATATATATTTATATATA AGTATATATATAAATATATATATTTATATATAAGTATATATATATATATT TATATATAAGTATATATAAATATATATATTTATATATAAGTATATATATA TATTTATATATAAGTATATATATATTTATATATAAGTATATATATATATT TATATATAAGTATATATATAAATATATATATTTATATATAAGTATATATA TAAATATATATATTTATATATAAGTATATATATATTTATATATAAGTATA TATAAATATATATATTTATATATAAGTGTATATATATAAATATATATATT TATATAGAAGTATATATAAATATATATATTTATATATAAGTATATATAAA TATATATATTTAAATATAAGTATATATAAATATATATATTTAAATATAAG TATATATATAAATATATATTTAAATATAAGTATATATATAAATATATATT TAAATATAAGTATATATATAAATATAAGTATATATATAAATATATATTTA AATATAAGTATATATATAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0014 a0014	a0014c0015 a0014c0015	a0014c0015t0003 a0014c0015t0003	a0014c0015t0003g0065 a0014c0015t0003g0065	1	326	0.0031	568	c.358 others(585): Show c.358+3444_358+3445insTATATAAGTATATATATAAATATATATA TTTATATATAAGTATATATATAAATATATATATTTATATATAAGTATATA TATATATATTTATATATAAGTATATATAAATATATATATTTATATATAAG TATATATATATATTTATATATAAGTATATATATATTTATATATAAGTATA TATATATATTTATATATAAGTATATATATAAATATATATATTTATATATA AGTATATATATAAATATATATATTTATATATAAGTATATATATATTTATA TATAAGTATATATAAATATATATATTTATATATAAGTGTATATATATAAA TATATATATTTATATAGAAGTATATATAAATATATATATTTATATATAAG TATATATAAATATATATATTTAAATATAAGTATATATAAATATATATATT TAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATATATA AATATATATTTAAATATAAGTATATATATAAATATAAGTATATATATAAA TATATATTTAAATATAAGTATATATATAAATATATATTTA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYRIP_chr3_39804609_40265321	40084638	T T	TCTATCGA others(561): Show TCTATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATAC ACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCTA TCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATACACAT CTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCTATCGA TAGATAATACACATCTATGTATTATATATCGATAATACACATCTATGTAT TATATATCGATAATACACATCTATGTATTATATATCGATAGATAATACAC ATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATATATC GATAGATAATACACATCTATGTATTATATATCGATAGATAATACACATCT ATGTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATA GATAATACACATCTATGTATTATATATCGATAGATAATACACATCTATGT ATTATATATCGATATATAATACACATCTATGTATTATATATCGATAGATA ATACACATCTATGTATTAC	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	170	0.0059	568	c.332 others(587): Show c.332+40367_332+40368insCTATCGATAGATAATACACATCTATG TATTATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAGAT AATACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATT ATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATA CACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATAT ATCGATAATACACATCTATGTATTATATATCGATAATACACATCTATGTA TTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAA TACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTAT ATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACA CATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATATAT CGATAGATAATACACATCTATGTATTATATATCGATATATAATACACATC TATGTATTATATATCGATAGATAATACACATCTATGTATTAC	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16			chr3	TogoVar
MYT1_chr20_64159452_64247253	64174273	T T	TTCTCCTC others(561): Show TTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCCTCCC TGGCTTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCTC CCTGGCTTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCC CTCCCTGGCTTCTCCTGTAGCATCTTTCCTGTAGTTGTGTCCATTCCCCT CCCTGGCTTCTCCTCCTGCAGCATCTTTCCTGTAGTTGTGTCCATTTCCC CTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTCCCC CTCCCTGACTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCC CTCCCTGGCGTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTC CCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTC CCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTC CATTCCCCTCCCTGGCTTC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0042 a0004c0009t0001g0042	1	223	0.0045	568	c.-99 others(585): Show c.-99+9540_-99+9541insCCTGCAGCATCTTTCCCTGTAGTTGTGT CCATTTCCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTCCCTGTAGTT GTGTCCATTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTCCCTGTAG TTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTGTAGT TGTGTCCATTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTCCTGTAG TTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAG TTGTGTCCATTCCCCCTCCCTGACTTCTCCTGCAGCATCTTTCCCTGTAG TTGTGTCCATTTCCCCTCCCTGGCGTCTCCTCCTGCAGCATCTTTCCCTG TAGTTGTGTCCATTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCTGT AGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTCCC TGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTT CCCTGTAGTTGTGTCCATTCCCCTCCCTGGCTTCTCTCCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(561): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATAC CGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCG TATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTA TATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATA TATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATA TACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATA CACAGTATGTATACCGTATATATACACAGTATGTATACTGTGTATGCAGT ATGTATACAGTATACATACTGCATGCAGTATGTATACTGTATACATACTG CATGCAGTATGTATACTGTATATATACACTATACAGTATGTATACTGTAT ATATACACTATACAGTATGTATACTGTATATATACACACAGTATGTATAC TGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	362	0.0028	568	c.-75 others(587): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTATAGTGTATATATACAGT ATACATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGTATG TATACAGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCAT ACACAGTATACATACTGTGTATATATACGGTATACATACTGTGTATATAT ACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATAC GGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGG TATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTA TACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATA CATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACA TACATACAGTATACATACATACAGTATACATACATACAGTATACATGCTG TACACAGTATACATGCTGTACACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NLGN1_chr3_173392744_174299372	174199422	C C	CCAAGGTG others(561): Show CCAAGGTGATCTTTTCTTTTTTTTTTTTTTTTTTTTTTCATTTATTTTTA TTTTATTTTATTTTATTTTTTTTATTATACTCTAAGTTTTAGGGTACATG TGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATTACTGGGT ATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACG TATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCA AATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACC ATGGAATACTATGCATCCATAAAAAATGATGAGTTCATATCCTTTGTAGG GACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAAC AAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATG AGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTG GGGTTGGGGGAGGGGGGGAGGGATAGTATTGGGAGATATACCTAATGCTA GATGACACATTAGTGGGTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0035 a0001c0005t0035	a0001c0005t0035g0016 a0001c0005t0035g0016	1	44	0.0227	568	c.707 others(587): Show c.707-75877_707-75876insTTTTTTTTTTTTTTTTTTTTTCATTT ATTTTTATTTTATTTTATTTTATTTTTTTTATTATACTCTAAGTTTTAGG GTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATT ACTGGGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACAT GCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAAC CAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACAT ATACACCATGGAATACTATGCATCCATAAAAAATGATGAGTTCATATCCT TTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCG CAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTG AACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGAC TGTGGTGGGGTTGGGGGAGGGGGGGAGGGATAGTATTGGGAGATATACCT AATGCTAGATGACACATTAGTGGGTGCAAGGTGATCTTTTCT	NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
NT5DC3_chr12_103767310_103846234	103768604	G G	GGGGAGGG others(561): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGAGAGGGACA GGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGA GAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCAGGAGGGG AGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGG AGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAG GGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGA GAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGG GGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAG AGGGAGAGAGAGGGAGAGGGAGAGAGAGGGAGAGGGAGTGAGAGAGAGAG GGAGAGAGAGGGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG02055.hp1 HG02145.hp1 others(14): Show HG00140.hp2 HG02055.hp1 HG02145.hp1 HG02451.hp1 HG02559.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02735.hp1 HG02965.hp2 HG03195.hp2 HG03453.hp2 HG03491.hp1 NA18906.hp1 NA19043.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0035 a0001c0001t0038 others(3): Show a0001c0001t0003 a0001c0001t0035 a0001c0001t0038 a0001c0001t0078 a0001c0001t0086 a0001c0001t0089	a0001c0001t0003g0035 a0001c0001t0003g0188 a0001c0001t0003g0221 others(14): Show a0001c0001t0003g0035 a0001c0001t0003g0188 a0001c0001t0003g0221 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0261 a0001c0001t0003g0263 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0035g0227 a0001c0001t0038g0220 a0001c0001t0078g0222 a0001c0001t0086g0235 a0001c0001t0089g0228	17	386	0.0440	568	c.92 others(579): Show c.9224_*9225insTCTCTCTCCCTCTCTCTCCCTCTCTCTCTCACTC CCTCTCCCTCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCTC CCTCTCCTTCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCT CCCCCATCCCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCC TCCCTCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCTCCCTCTCCCTC CCTCTCCCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCTCCCTCTC CCTCCCTCTCCCTGTCCCTCTCCCTCCCCCTCCCTCCCCTCCTGCCCCCT CCCTCTCTCTCCCCCCTCTCCCCCTCCCCTCCCTCTCCCCCCTCCCCTCC CTCTCCCTCTCTCCCTCCCTCTCTCTCCCTCTCCCTGTCCCTCTCCCTCT CCCTCTCCCTCCCTCTCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCC CCCCTCCCCCTCCCTCTCTGTCCCCCCTCTCCCCCTACCCCTCCCTCTCC CTCCCTCCCTGTCCCCCCTCTCCCCCTCCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3705		chr12	TogoVar
NT5DC3_chr12_103767310_103846234	103768604	G G	GGGGAGGG others(561): Show GGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTA GGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACA GGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGAGAGGGACA GGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGA GAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAGGGG AGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGGG AGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAG GGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGA GAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGG GGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAG AGGGAGAGAGAGGGAGAGGGAGAGAGAGGGAGAGGGAGTGAGAGAGAGAG GGAGAGAGAGGGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0335 a0001c0001t0037g0335	1	386	0.0026	568	c.92 others(579): Show c.9224_*9225insTCTCTCTCCCTCTCTCTCCCTCTCTCTCTCACTC CCTCTCCCTCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCTC CCTCTCCTTCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCT CCCCCATCCCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCC TCCCTCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCTCCCTCTCCCTC CCTCTCCCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCTCCCTCTC CCTCCCTCTCCCTGTCCCTCTCCCTCCCCCTCCCTCCCCTCCCGCCCCCT CCCTCTCTCTCCCCCCTCTCCCCCTCCCCTCCCTCTCCCCCCTCCCCTCC CTCTCCCTCTCTCCCTCCCTCTCTCTCCCTCTCCCTGTCCCTCTCCCTCT CCCTCTCCCTCCCTCTCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCC CCCCTCCCCCTCCCTCTCTGTCCCCCCTCTCCCCCTACCCCTCCCTCTCC CTCCCTCCCTGTCCCCCCTCTCCCCCTCCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3705		chr12	TogoVar
NUP205_chr7_135552917_135653753	135570756	T T	TTATATAT others(561): Show TTATATATTATATTAATATAATTAATTATATTTATATATTATATTAATAT ATATTAATTATATTTATATATTATATTAATATATATTAATTATATTTATA TATTATATTAATATATATTAATTATATTAATATATATTATATTAATATAT ATTAATTATATTTATATATTATATTAATATATATTAATTATATTTATATA TTATATTAATATATATTAATTATATTAATATATATTAATTATATTAATAT ATATTAATATATATTAATTATATTAATATATATTAATATAATTAATATAT ATTAATATATATTATATTAATATATATTATATTAATATATATTAATATAT ATTATATTAATATATATTATATTAATATATATTAATATATATTATATTAA TATATATTAATATATATTATATTAATATATATTATATTAATATATATTAA TATATATTATATTAATATATATTATATTAATATATATTATATTAATATAT ATTATATTAATATATATTAATATATATTATATTAATATATATTATATTAA TATATATTAATTATATTAA	intron_variant intron_variant	MODIFIER	HG02148.hp2 NA20752.hp2 HG02148.hp2 NA20752.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0084 a0002c0006t0001g0252 a0002c0006t0001g0084 a0002c0006t0001g0252	2	352	0.0057	568	c.29- others(581): Show c.29-330_29-329insATTAATTATATTTATATATTATATTAATATAT ATTAATTATATTTATATATTATATTAATATATATTAATTATATTTATATA TTATATTAATATATATTAATTATATTAATATATATTATATTAATATATAT TAATTATATTTATATATTATATTAATATATATTAATTATATTTATATATT ATATTAATATATATTAATTATATTAATATATATTAATTATATTAATATAT ATTAATATATATTAATTATATTAATATATATTAATATAATTAATATATAT TAATATATATTATATTAATATATATTATATTAATATATATTAATATATAT TATATTAATATATATTATATTAATATATATTAATATATATTATATTAATA TATATTAATATATATTATATTAATATATATTATATTAATATATATTAATA TATATTATATTAATATATATTATATTAATATATATTATATTAATATATAT TATATTAATATATATTAATATATATTATATTAATATATATTATATTAATA TATATTAATTATATTAATATATATTATATTAATATA	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42		INFO_REALIGN_3_PRIME	chr7	TogoVar
PCED1A_chr20_2830314_2845655	2842868	A A	AGATAGAT others(561): Show AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	436	0.0023	568	c.-26 others(579): Show c.-2680_-2679insGATAGATACATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATA GATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTA TCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATC TATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATC GATAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGA TAGATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATA GATACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2214		chr20	TogoVar
PIAS4_chr19_4002736_4044386	4012007	T T	TGTGTTTG others(561): Show TGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGTTTGGTGTGGAAGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGA GGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGG AGGTGTGTGGGGTGTGGAG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0295 a0001c0005t0001g0295	1	334	0.0030	568	c.28- others(581): Show c.28-912_28-911insTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTTTGGTGTGGAAGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PNPLA7_chr9_137454952_137555402	137503786	G G	GAAAAAAG others(561): Show GAAAAAAGAAGAGAGAAGAAGAAAGAAATAGAAGAAGGGAGAAGGAAGAA GGAAGAAGAAAGAAGAAGAAGGAAGAAGAAGGAAGAAGAAGCAGAAAGAA GAAGAAGAAGGAAGAAGGAGGAAGAAGGAAGAAGAAGGAAGAAGGAAGAA GAAGAAGGAAGAAGGAAAAAGAAGGAAGAAAAAGAAGGAAGAAAGAAGAA GGAAGAAGAAGAAAGAAGAAGAAGAAGGAAGAAGGAAGAAGAAAGAAGAA GGAAGAAGAAGGAAGAAGGAAGCAGAAGGAAGAAGGAAGAAAGAAGAAGG AAGAAGGAAGAAGAAGGAAGAAGGAACAAGAAGGAAGAAAAAGAAGGAAG AAGGAAGAAGAAGGAAGAAGGAAGAAGAAAGAAGAAGGAAGAAGAAGAAA AAAAGAAGAAAGAAAGAAGAAGAAGAAAGAAGAAAGAAGAAGAAAAAAGG AAGAGGAAGAAAAGAAGAAGGAAGAAGAAAGAAGGAAGAAGAAGAAGGAA GAAGGAAGAAGAAGAAGGAAGAAGGAAGAAGAAGAAGGAAGAAGAAGAAG GAAGAAGGAAGAAGAAGGA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0033 a0006c0009t0001g0033	1	188	0.0053	568	c.147 others(587): Show c.1473+1827_1473+1828insTCCTTCTTCTTCCTTCTTCCTTCTTC TTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCTTCCTTCTTCCTTC TTCTTCTTCCTTCTTTCTTCTTCCTTCTTCTTTTCTTCCTCTTCCTTTTT TCTTCTTCTTTCTTCTTTCTTCTTCTTCTTTCTTTCTTCTTTTTTTCTTC TTCTTCCTTCTTCTTTCTTCTTCCTTCTTCCTTCTTCTTCCTTCTTCCTT CTTTTTCTTCCTTCTTGTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTCTT CTTTCTTCCTTCTTCCTTCTGCTTCCTTCTTCCTTCTTCTTCCTTCTTCT TTCTTCTTCCTTCTTCCTTCTTCTTCTTCTTTCTTCTTCTTCCTTCTTCT TTCTTCCTTCTTTTTCTTCCTTCTTTTTCCTTCTTCCTTCTTCTTCTTCC TTCTTCCTTCTTCTTCCTTCTTCCTCCTTCTTCCTTCTTCTTCTTCTTTC TGCTTCTTCTTCCTTCTTCTTCCTTCTTCTTCTTTCTTCTTCCTTCTTCC TTCTCCCTTCTTCTATTTCTTTCTTCTTCTCTCTTCTTTTTT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137503786	G G	GACAAAAG others(561): Show GACAAAAGAAGAGAGAAGAAGAAAGAAATAGAAAGAAGAAGGGAGAAGGA AGAAGGAAGAAGAAAGAAGAAGAAGGAAGAAGAAGGAAGAAGAAGCAGAA AGAAGAAGAAGAAGGAAGAAGGAGGAAGAAGGAAGAAGAAGGAAGAAGAA GAAGGAAGAAGGAAAAAGAAGGAAGAAAAAGAAGGAAGAAAGAAGAAGAA GGAAGAAGAAAGAAGAAGAAGAAGGAAGAAGAAAGAAGGAAGAAGAAGAA GGAAGAAGGAAGGAGAAGGAAGAAGGAAGAAAGAAGAAGAAGGAAGAAGG AAGAAGAAGGAAGAAGGAACAAGAAGGAAGAAAAAGAAGGAAGAAGGAAG AAGAAGGAAGAAGGAAGAAGAAAGAAGAAGGAAGAAGAAGAAAGAAAGAA GAAAGAAGAAGAAAGAAGAAAGGAAGAAGAAAAAAGGAAGAGGAAGAAAA GAAGAAGGAAGAAGAAAGAAGGAAGAAGAAGAAGGAAGAAGGAAGAAGAA GAAGGAAGAAGAAGAAGGAAGAAGGAAGAAGAAGAAGGAAGAAGAAGAAG GAAGAAGGAAGAAGAAGGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0145 a0001c0002t0001g0145	1	188	0.0053	568	c.147 others(587): Show c.1473+1827_1473+1828insTCCTTCTTCTTCCTTCTTCCTTCTTC TTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCTTCCTTCTTCTTCT TCCTTCTTCCTTCTTCTTCTTCCTTCTTTCTTCTTCCTTCTTCTTTTCTT CCTCTTCCTTTTTTCTTCTTCCTTTCTTCTTTCTTCTTCTTTCTTCTTTC TTTCTTCTTCTTCCTTCTTCTTTCTTCTTCCTTCTTCCTTCTTCTTCCTT CTTCCTTCTTTTTCTTCCTTCTTGTTCCTTCTTCCTTCTTCTTCCTTCTT CCTTCTTCTTCTTTCTTCCTTCTTCCTTCTCCTTCCTTCTTCCTTCTTCT TCTTCCTTCTTTCTTCTTCCTTCTTCTTCTTCTTTCTTCTTCCTTCTTCT TCTTTCTTCCTTCTTTTTCTTCCTTCTTTTTCCTTCTTCCTTCTTCTTCT TCCTTCTTCTTCCTTCTTCCTCCTTCTTCCTTCTTCTTCTTCTTTCTGCT TCTTCTTCCTTCTTCTTCCTTCTTCTTCTTTCTTCTTCCTTCTTCCTTCT CCCTTCTTCTTTCTATTTCTTTCTTCTTCTCTCTTCTTTTGT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PPP1R16B_chr20_38800697_38928024	38895766	A A	ACTTCCTT others(561): Show ACTTCCTTCTTTCTCTCCTCCCTTCCTCCCTTCCTTCTTTCTCTCCTCCC TCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCC TCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTCCCTCCTTCCTTCTTTCT CTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCT TTCTCTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCC TTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCC TTCCTTCTTTCTCTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTTC CTCCTTCCTTCTTTCTCTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCC CTTCCTCCTTCCTTCTTTCTCTCCTCCCTCCCTCCTTCCTTCTTTCTCTC CTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTC TCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTC TTTCTCTCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0139 a0002c0011t0002g0139	1	244	0.0041	568	c.467 others(581): Show c.467+78_467+79insTCCTCCCTTCCTTCTTTCTCTCCTCCCTCCCT CCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCT TCCTCCTTCCTTCTTTCTCTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCT CCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTC TCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTT TCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCT TCTTTCTCTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCT TCCTTCTTTCTCTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTTCC TCCTTCCTTCTTTCTCTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCC TTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCC TCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCT CTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCT	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB11FIP3_chr16_420649_528011	492397	C C	CGGGAGAC others(561): Show CGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCC AGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAG ACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGG CCCTCCCCGGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGA GGCCGCCCAGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCC GGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGTC CAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGGGGAG ACCCGAGGCCGTCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGG CCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCT CCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0212 a0001c0001t0003g0212	1	295	0.0034	568	c.126 others(587): Show c.1265+3413_1265+3414insTCCAGAGCCCTCCCGGGAGACCCGAG GCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCG CCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGA GACCCGAGGCCGCCCAGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGC CCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGA GGCCGTCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCC CGGGGAGACCCGAGGCCGTCCAGGGCCCTCCCCGGGGAGACCCGAGGCCG CCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCGCCCA GGGCCCTCCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGA CCCGAGGCCGCCCAGGGCCCTCCCCGGGGAGACCCGAGGCCG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(561): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGATCAGCCCCC CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGC ACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCC GCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCG CCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGG GAGGGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	204	0.0049	568	c.880 others(585): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG ACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA TCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(561): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGATCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCA CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCG CACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGATCAGCCCCCCG CCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGG GAGGGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGTCACCCCCCC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	204	0.0049	568	c.880 others(585): Show c.880-4601_880-4600insGGGGGGGTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT GATCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCT GACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ATCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(561): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGATCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC ACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCC GCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCG CCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGG GAGGGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0003 a0001c0004t0001g0003	1	204	0.0049	568	c.880 others(585): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG ACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ATCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RNF213_chr17_80255852_80403794	80274587	T T	TGGGGGGT others(561): Show TGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGA GTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGG GGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAG TGGGGTGAATGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGA TGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGCGGGGTGAGTGTGGGGGG TGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGATGGGG TGAGTGTGGGGGGTGAGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTG GGGTGAGTGTGGGGGGTGAGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGT GGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAG TGGGGTGTCTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGA GTGTGTGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGG GGGGTGAGTGGGGTGAGTG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp2 HG02615.hp1 HG02615.hp2	a0036 a0037 a0036 a0037	a0036c0144 a0037c0145 a0036c0144 a0037c0145	a0036c0144t0003 a0037c0145t0035 a0036c0144t0003 a0037c0145t0035	a0036c0144t0003g0173 a0037c0145t0035g0174 a0036c0144t0003g0173 a0037c0145t0035g0174	2	292	0.0069	568	c.261 others(585): Show c.261+1222_261+1223insAGTGTGGGGAGTGAGTGGGGTGAGTGTG GGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGTGAATGTGGGGTG AGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGATGGGGGTGAGTGGGGTGA GTGTGGGGGGTGAGCGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGG GGAGTGAGTGGGGTGAGTGTGGGGTGATGGGGTGAGTGTGGGGGGTGAGG GGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTG AGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGA GTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTG AGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGTGGGGTGAGTGGG GTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGT GGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80274587	T T	TGGGGGGT others(561): Show TGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGG GTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGG GGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAG TGTGGGGGGTGAGTGGGGTGAGTGGGGTGAATGTGGGGTGAGTGGGGTGA GTGTGGGGGGTGAGTGGGGTGATGGGGGTGAGTGGGGTGAGTGTGGGGGG TGAGCGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGAGTGAGTGGG GTGAGTGTGGGGTGATGGGGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGG GTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGT GTGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAG TGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGA GTGTGTGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGG GGGGTGAGTGGGGTGAGTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00438.hp2 others(77): Show HG00280.hp2 HG00408.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01257.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01891.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02074.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02735.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG03130.hp1 HG03209.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03834.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18942.hp1 NA18944.hp2 NA18946.hp2 NA18950.hp1 NA18954.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18970.hp1 NA18973.hp2 NA18975.hp2 NA18983.hp1 NA18998.hp2 NA19005.hp1 NA19005.hp2 NA19060.hp2 NA19082.hp2 NA19086.hp1 NA19087.hp1 NA20129.hp2 NA21309.hp2	a0001 a0002 a0003 others(28): Show a0001 a0002 a0003 a0004 a0009 a0010 a0012 a0022 a0023 a0024 a0025 a0026 a0046 a0048 a0049 a0050 a0051 a0052 a0053 a0054 a0058 a0059 a0064 a0065 a0066 a0067 a0071 a0073 a0076 a0080 a0082	a0001c0001 a0001c0003 a0001c0004 others(38): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0094 a0001c0132 a0002c0002 a0002c0010 a0002c0035 a0003c0005 a0003c0074 a0004c0047 a0009c0016 a0009c0089 a0010c0017 a0010c0138 a0012c0123 a0022c0090 a0023c0088 a0024c0026 a0025c0038 a0026c0080 a0046c0129 a0048c0091 a0049c0093 a0050c0092 a0051c0135 a0052c0134 a0053c0136 a0054c0137 a0058c0130 a0059c0064 a0064c0059 a0065c0062 a0066c0057 a0067c0056 a0071c0131 a0073c0069 a0076c0133 a0080c0073 a0082c0085	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(54): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0034 a0001c0004t0023 a0001c0006t0009 a0001c0006t0010 a0001c0094t0001 a0001c0132t0026 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0009 a0002c0002t0010 a0002c0002t0021 a0002c0002t0047 a0002c0010t0004 a0002c0010t0005 a0002c0035t0003 a0002c0035t0004 a0003c0005t0011 a0003c0005t0023 a0003c0074t0011 a0004c0047t0065 a0009c0016t0003 a0009c0016t0009 a0009c0016t0059 a0009c0089t0005 a0010c0017t0006 a0010c0017t0012 a0010c0138t0012 a0012c0123t0015 a0022c0090t0008 a0023c0088t0013 a0024c0026t0007 a0025c0038t0006 a0026c0080t0077 a0046c0129t0030 a0048c0091t0018 a0049c0093t0001 a0050c0092t0037 a0051c0135t0078 a0052c0134t0008 a0053c0136t0025 a0054c0137t0016 a0058c0130t0031 a0059c0064t0033 a0064c0059t0060 a0065c0062t0070 a0066c0057t0004 a0067c0056t0003 a0071c0131t0006 a0073c0069t0019 a0076c0133t0081 a0080c0073t0069 a0082c0085t0006	a0001c0001t0001g0003 a0001c0001t0001g0118 a0001c0001t0001g0128 others(77): Show a0001c0001t0001g0003 a0001c0001t0001g0118 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0141 a0001c0001t0001g0160 a0001c0001t0002g0131 a0001c0001t0002g0139 a0001c0001t0002g0153 a0001c0001t0002g0157 a0001c0001t0002g0227 a0001c0003t0001g0036 a0001c0003t0001g0095 a0001c0003t0001g0108 a0001c0003t0001g0130 a0001c0003t0001g0142 a0001c0003t0002g0107 a0001c0003t0002g0109 a0001c0003t0034g0004 a0001c0004t0023g0106 a0001c0006t0009g0132 a0001c0006t0009g0181 a0001c0006t0010g0144 a0001c0094t0001g0162 a0001c0132t0026g0006 a0002c0002t0003g0143 a0002c0002t0003g0184 a0002c0002t0004g0117 a0002c0002t0004g0129 a0002c0002t0004g0155 a0002c0002t0004g0183 a0002c0002t0005g0096 a0002c0002t0005g0182 a0002c0002t0009g0105 a0002c0002t0010g0113 a0002c0002t0010g0154 a0002c0002t0021g0114 a0002c0002t0047g0149 a0002c0010t0004g0187 a0002c0010t0005g0186 a0002c0035t0003g0093 a0002c0035t0004g0094 a0003c0005t0011g0135 a0003c0005t0023g0134 a0003c0074t0011g0163 a0004c0047t0065g0150 a0009c0016t0003g0138 a0009c0016t0009g0103 a0009c0016t0059g0098 a0009c0089t0005g0104 a0010c0017t0006g0089 a0010c0017t0006g0090 a0010c0017t0012g0097 a0010c0138t0012g0005 a0012c0123t0015g0185 a0022c0090t0008g0092 a0023c0088t0013g0165 a0024c0026t0007g0140 a0025c0038t0006g0007 a0025c0038t0006g0013 a0026c0080t0077g0290 a0046c0129t0030g0009 a0048c0091t0018g0289 a0049c0093t0001g0101 a0050c0092t0037g0279 a0051c0135t0078g0016 a0052c0134t0008g0014 a0053c0136t0025g0011 a0054c0137t0016g0015 a0058c0130t0031g0012 a0059c0064t0033g0136 a0064c0059t0060g0137 a0065c0062t0070g0127 a0066c0057t0004g0091 a0067c0056t0003g0152 a0071c0131t0006g0010 a0073c0069t0019g0151 a0076c0133t0081g0008 a0080c0073t0069g0158 a0082c0085t0006g0291	80	292	0.2740	568	c.261 others(585): Show c.261+1222_261+1223insAGTGTGGGGGGTGAGTGGGGTGAGTGTG GGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGG TGAGTGGGGTGAATGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGG GTGATGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGCGGGGTGAGTGTGG GGGGTGAGTGGGGTGAGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGATGG GGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAG TGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGA GTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAGTGGGGTGAGTGGGGGGTG AGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGTGGGGTGAGTGGG GTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGT GGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF223_chr1_1065967_1079306	1076498	G G	GAGGCTAT others(561): Show GAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTG GGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGG GGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGTGGCT GAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTG GGGGGTGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGG GGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGCCGGGAGGCT GAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTG GGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGG GGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCT GAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTG GGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGTGGCTGAGGCTATGG GGACTCCGTGGGGGGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	568	c.-24 others(579): Show c.-2493_-2492insGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCA CCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATA GCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGG AGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCT CCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATA GCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCGGCACGG AGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCT CCCCCCACGGAGTCCCCATAGCCTCAGCCACCCCCCACGGAGTCCCCATA GCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCCACCCCCCACGG AGTCCCCATAGCCTCAGCCTCCCGGCACGGAGTCCCCATAGCCTCAGCCT CCCCCCACGGAGTCCCCATAGCCTCAGCCTCCCCCCACGGAGTCCCCATA GCCTCAGCCTCCCCCCACGGAGTCCCCATAGCCT	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2193		chr1	TogoVar
RPS6KA2_chr6_166404364_166632251	166416131	C C	CCCACCAT others(561): Show CCCACCATCACCCTCACCATCATCTTCACCACCACCTCCACCATCACCCT CGCCATCCTTTCTCCATCACCTCCACCATCACCCTCACCATCATCTTCAC CACCACCTCCACCATCACCCTCGCCATCCTTTCTCCATCACCTCCACCAT CACCCTCGCCATCATCTTCACCACCACCTCCACCATCATCCTCACCATCT CCATCACCCTCGCCATCCTTTCTCCATCACCTCCACCATCACCCTCGCCA TCATCTTCACCACCACCTCCACCATCATCCTCACCATCTCCACCATCACC CTCACCATCCTTCCTCCATCACCTCCACCATCCACCCTCACCATCCTTCA TCACCCCCACCATCACCCTCACCATCATCTTCACCACCACCTCCACCATC ACCCTCGCCATCCTTTCTCCATCACCTCCACCATCACCCTCGCCATCATC TTCACCACCACCTCCACCATCACCCTCGCCATCCTTTCTCCATCACCTCC ACCATCACCCTCGCCATCATCTTCACCACCACCTCCACCATCACCCTCGC CATCCTTTCTCCATCACTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0027 a0001c0006t0027	a0001c0006t0027g0201 a0001c0006t0027g0201	1	244	0.0041	568	c.193 others(587): Show c.1938+2093_1938+2094insAAGTGATGGAGAAAGGATGGCGAGGG TGATGGTGGAGGTGGTGGTGAAGATGATGGCGAGGGTGATGGTGGAGGTG ATGGAGAAAGGATGGCGAGGGTGATGGTGGAGGTGGTGGTGAAGATGATG GCGAGGGTGATGGTGGAGGTGATGGAGAAAGGATGGCGAGGGTGATGGTG GAGGTGGTGGTGAAGATGATGGTGAGGGTGATGGTGGGGGTGATGAAGGA TGGTGAGGGTGGATGGTGGAGGTGATGGAGGAAGGATGGTGAGGGTGATG GTGGAGATGGTGAGGATGATGGTGGAGGTGGTGGTGAAGATGATGGCGAG GGTGATGGTGGAGGTGATGGAGAAAGGATGGCGAGGGTGATGGAGATGGT GAGGATGATGGTGGAGGTGGTGGTGAAGATGATGGCGAGGGTGATGGTGG AGGTGATGGAGAAAGGATGGCGAGGGTGATGGTGGAGGTGGTGGTGAAGA TGATGGTGAGGGTGATGGTGGAGGTGATGGAGAAAGGATGGCGAGGGTGA TGGTGGAGGTGGTGGTGAAGATGATGGTGAGGGTGATGGTGG	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	19/20			chr6	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGGTT others(561): Show GGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGT GGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGT GAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTG GGGTGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGG GGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGG GGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTT GGGTGAGGGGGGTGGGGGTTGGGTGAGGGGGGTGGGCTCGGGGGGGTTGA GTGAGGGGGGTGGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGT TGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAG GGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGG GGGTTGGGGTGTTGGGTGA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	290	0.0035	568	c.464 others(581): Show c.464+91_464+92insTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGA GGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGG GGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGT GTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAG GGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGAGG GGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGG GGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGG GGGGGTTGGGTGAGGGGGGTGGGGGTTGGGTGAGGGGGGTGGGCTCGGGG GGGTTGAGTGAGGGGGGTGGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTG GGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTT GGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTG AGTGAGGGGGTTGGGGTGTTGGGTGAGGGGGTTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43339728	A A	ATGCCCCC others(561): Show ATGCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCACTCTATC CCCCCACAAGCATCACTCCAGCCCTCCCCCACTCTCCTCACTCTATGCCC CCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTACCCCCCAC AAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAA GCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTACCCCCCACAAGCAT AGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATTG CTTCAACCCTCCCCCACGCTCCTCATTCTATCCCCCCACAAGCATCGCTC CAACCCTCCCCTACTCTCCTCACTCTATCCCCCCACAAGCATCACTCCAA CCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATCACTCCAACC CTCCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATCACTCCAACCCT CCCCTACTCTCCTCATTCTACCCCCCCCAAGCATAGCTCCAACCCTCCCC CCACTCTCCTCATTCTACC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0012 a0012	a0012c0032 a0012c0032	a0012c0032t0002 a0012c0032t0002	a0012c0032t0002g0019 a0012c0032t0002g0019	1	280	0.0036	568	c.89- others(581): Show c.89-494_89-493insGGTAGAATGAGGAGAGTGGGGGGAGGGTTGGA GCTATGCTTGGGGGGGGTAGAATGAGGAGAGTAGGGGAGGGTTGGAGTGA TGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGTGATG CTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGTGATGCT TGTGGGGGGATAGAGTGAGGAGAGTAGGGGAGGGTTGGAGCGATGCTTGT GGGGGGATAGAATGAGGAGCGTGGGGGAGGGTTGAAGCAATGCTTGTGGG GGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGG GTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGGGATA GAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGTAGAA TGAGGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGGCATAGAGTGA GGAGAGTGGGGGAGGGCTGGAGTGATGCTTGTGGGGGGATAGAGTGAGGA GAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGGCA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SDK1_chr7_3296252_4274000	4083708	T T	TCCTCCCT others(561): Show TCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCC CTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACT TCCTCCCTCCCTTCTTTACTTCCTCCCTTCTTTACTTCCTCCCTTCTTTA CTTCTTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCT CCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTA CTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCT CCCTTCTTTACTTCCTCCCTTCTTTACTTCCTCCCTTCTTTACTTCTTCC CTCCCTCCTTTACTTCCTCTCTCCCTTCTTTACTTCCTCCCTCCCTTCTT TACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCC CTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTT TACTTCCTCCCTTCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCC CTCCCTCCTTTACTTGCTC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0090 a0002c0090	a0002c0090t0010 a0002c0090t0010	a0002c0090t0010g0047 a0002c0090t0010g0047	1	116	0.0086	568	c.332 others(587): Show c.3324+4149_3324+4150insCTCCCTTCTTTACTTCCTCCCTCCCT TCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTC CTCCCTCCCTTCTTTACTTCCTCCCTTCTTTACTTCCTCCCTTCTTTACT TCTTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCC CTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACT TCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCC CTTCTTTACTTCCTCCCTTCTTTACTTCCTCCCTTCTTTACTTCTTCCCT CCCTCCTTTACTTCCTCTCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTA CTTCCTCCCTCCCTTCTTTACTTCCTCCCTCCCTTCTTTACTTCCTCCCT CCCTCCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCTCCCTTCTTTA CTTCCTCCCTTCCTTCTTTACTTCCTCCCTCCCTCCTTTACTTCCTCCCT CCCTCCTTTACTTGCTCCCTCCCTCCCTTCTTTACTTCCTCC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	22/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(561): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCC CACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCCTCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCT CCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCCCC TCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTC CCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCAC CCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCC CTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0094 a0002c0002t0001g0094	1	150	0.0067	568	c.77- others(585): Show c.77-45374_77-45373insTCCCCTCCCCCTCCCCTCCCCTCCCCTA CCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCC CCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCTCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCC CTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCAT CCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCC TTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(561): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCC CACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCCTCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCT CCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCCCC TCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTC CCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCAC CCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCC CTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	1	158	0.0063	568	c.22+ others(585): Show c.22+36337_22+36338insTCCCCTCCCCCTCCCCTCCCCTCCCCTA CCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCC CCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCTCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCC CTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCAT CCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCC TTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar

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Search Results (Total: 10000 hits)