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
GALR1_chr18_77244848_77282900	77252971	T T	TCACCACC others(1211): Show TCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACC ACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCATCAC CACCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCA TCACCACCACCACCATCACCACCATCACCACCACCACCATCACCACCACC ACCACCACCACCTCCACCATCACCATCACCACCACCACCACCACCATCAC CACCACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCA CCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACTGCC ATCATCACCACCATCACCACCACCATCACCACCACCACCATCACCACCAC CACCATCACCACCACCATCACCACCACCACTGCCATCATCACCACCATCA CCACCACCATCATCACCACCACCATCATCACCGTCACCATCACCATCATC AGCACCACCATCATCAGCACCATCATCACCACCATCACCACCACCACCAC CACCACCACCACCACCATCACCACCACCATCACCACCACCACCACCATCA CCACCGTCATCACCGTCACCACCACCACCACCACCATGACCACCACCACC GTCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCAC CATCAGCAGCACCACCACCACCACCACCACCACCACCACCACCATCACCA CCATCACCACCACCATCACCACCATCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCACCACCACCACCATCATCACCAC CATCACCACCACCACCACCACCACCACCACCACCACCACCACCACCATCA CCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCAC CACCACCACCACCATCACCACCATCACCACCACCACCACCACCATCACCA CCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACC ACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCAC CACCATCACCACCACCACCACCACCACCACCACCATCACCACCACCACCA CCACCACCACCACCACCAC	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0102 a0001c0001t0035g0102	1	366	0.0027	1218	c.666 others(1235): Show c.666+1765_666+1766insCCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCA CCACCACCATCACCACCACCACCATCACCACCACCACCATCACCACCACC ACCACCACCACCATCACCACCACCACCATCACCACCATCACCACCACCAC CATCACCACCACCACCACCACCACCTCCACCATCACCATCACCACCACCA CCACCACCATCACCACCACCACCATCACCACCATCACCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCAC CATCACCACTGCCATCATCACCACCATCACCACCACCATCACCACCACCA CCATCACCACCACCACCATCACCACCACCATCACCACCACCACTGCCATC ATCACCACCATCACCACCACCATCATCACCACCACCATCATCACCGTCAC CATCACCATCATCAGCACCACCATCATCAGCACCATCATCACCACCATCA CCACCACCACCACCACCACCACCACCACCATCACCACCACCATCACCACC ACCACCACCATCACCACCGTCATCACCGTCACCACCACCACCACCACCAT GACCACCACCACCGTCACCACCACCATCACCACCACCACCACCACCACCA TCACCACCACCACCATCAGCAGCACCACCACCACCACCACCACCACCACC ACCACCATCACCACCATCACCACCACCATCACCACCATCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCA CCATCATCACCACCATCACCACCACCACCACCACCACCACCACCACCACC ACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCAC CACCATCACCACCACCACCACCACCACCACCACCATCACCACCACCACCA CCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCAC CATCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCA CCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCATC ACCACCACCACCACCACCACCACCACCACCACCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1211): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0023 a0001c0004t0023	a0001c0004t0023g0192 a0001c0004t0023g0192	1	388	0.0026	1218	c.-38 others(1237): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCCTGCTGCT TCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACC CAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCA CACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCC GGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGG CTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCT CGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCT CTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTG GGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTT CCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGG GTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTC TGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGG GGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCA CATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGG CAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGG ACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCG GCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTG AGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGG TGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTT CCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAG TCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTC TGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTC CCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCA GCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1211): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	388	0.0026	1218	c.-38 others(1237): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACC CAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCA CACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCC GGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGG CTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCT CGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCT CTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTG GGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTT CCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGG GTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTC TGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGG GGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCA CATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGG CAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGG ACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCG GCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTG AGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGG TGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTT CCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAG TCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTC TGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTC CCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCA GCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1211): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03471.hp1 HG04184.hp2 HG03195.hp2 HG03471.hp1 HG04184.hp2	a0001 a0025 a0001 a0025	a0001c0001 a0025c0026 a0001c0001 a0025c0026	a0001c0001t0018 a0025c0026t0008 a0001c0001t0018 a0025c0026t0008	a0001c0001t0018g0261 a0025c0026t0008g0175 a0025c0026t0008g0176 a0001c0001t0018g0261 a0025c0026t0008g0175 a0025c0026t0008g0176	3	388	0.0077	1218	c.-38 others(1237): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCC AGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCAC ACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCG GCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGC TTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTC GCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTC TGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGG GGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTC CCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGG TGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCT GGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGG GCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCAC ATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGC AGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGA CAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGG CAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGA GTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGT GCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTC CAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGT CCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCT GCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCC CCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAG CCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1211): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01167.hp2 NA20905.hp2 HG01167.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0239 a0001c0001t0002g0056 a0001c0001t0002g0239	2	388	0.0052	1218	c.-38 others(1237): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCC AGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCAC ACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCG GCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGC TTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTC GCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTC TGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGG GGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTC CCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGG TGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCT GGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGG GCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCAC ATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGC AGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGA CAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGG CAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGA GTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGT GCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTC CAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGT CCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCT GCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTCC CCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAG CCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1211): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCCACTCCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGAC TCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGG CTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTT TTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGG CCTTCCTTGTTCCATCGCCCCCCACTTGGGCTTATCGCCCGCTGGCCGCG CCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCC CTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGG GCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGA GTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGG CCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATT TAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGT CTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTG CCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGG GGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCA CACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCT GCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGG CTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCC AGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCC TGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGT CCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTC GGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCC TGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCT GTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGT CCACATGCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0003 a0003c0011t0003	a0003c0011t0003g0212 a0003c0011t0003g0212	1	388	0.0026	1218	c.-38 others(1237): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCCACTCCCCCCCCCTGCTGC TTCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACAC CCAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCC ACACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCC CGGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCCACTTG GGCTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTT CTCGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGG CTCTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCC TGGGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAG TTCCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAG GGGTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGC TCTGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGG GGGGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCT CACATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGG GGCAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAG GGACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGC CGGCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGC TGAGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAA GGTGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTT TTCCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTG AGTCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGG TCTGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCT TCCCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCC CAGCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1211): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGAC TCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGG CTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTT TTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGG CCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGC CGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCC TAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGG CTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAG TCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGC CCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTT AGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTC TGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGC CTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGG GGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCAC ACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTG CCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGC TTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCA GGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCT GCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTC CACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCG GCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCT GGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTG TGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTC CACATGCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0159 a0001c0001t0002g0159	1	388	0.0026	1218	c.-38 others(1237): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCCAGCCCCCACTCCCCCCCCCTGCTGC TTCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACAC CCAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCC ACACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCC CGGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGG GCTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTC TCGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGC TCTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCT GGGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGT TCCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGG GGTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCT CTGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGG GGGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTC ACATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGG GCAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGG GACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCC GGCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCT GAGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAG GTGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTT TCCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGA GTCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGT CTGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTT CCCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCC AGCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KIF1A_chr2_240708767_240825219	240781503	C C	CCACACAC others(1211): Show CCACACACACACACACACACAGCTCCACACACACACACAGCTCCACACAC ACACAGCTCCACACACACACACAGCTCCACACACACACACACACACACAG CTCCACACACACACACACAGCTCCACACACACACAGCTCCACACACACAC ACACACAGCTCCACACACACACACACACACAGCTCCACACACACACACAG CTCCACACACACACACACACACAGCTCCACACACACACAGCTCCACACAC ACACAGCTCCACACACACACACACAGCTCCACACACACACACACACAGCT CCACACACACACACACAGCTCCACACACACACACACACACAGCTCCACAC ACACACACAGCTCCACACACACACACACACACAGCTCCCCACACACACAC AGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACAC ACACACAGCTCCACACACACACACAGCTCCACACACACACACACACACAG CTCCACACACACACACAGCTCCACACACACACACAGCTCCACACACACAC ACACACACACAGCTCCACACACACACACAGCTCCACACACACACACACAG CTCCACACACACACACACACAGCTCCACACACACACACACACACAGCTCC ACACACACACACACAGCTCCACACACACACACAGCTCCACACACACACAC ACAGCTCCACACACACACACACACACACAGCTCCACACACACACACACAC ACAGCTCCACACACACACACAGCTCCACACACACACAGCTCCACACACAC ACACACAGCTCCACACACACACACACACACACACAGCTCCACACACACAC ACACAGCTCCACACACACACAGCTCCACACACACACACACACAGCTCCAC ACACACACACACACACAGCTCCACACACACACAGCTCCACACACACACAC AGCTCCACACACACACACACACACAGCTCCACACACACACAGCTCCACAC ACACACAGCTCCACACACACACACACAGCTCCACACACACACACACACAG CTCCACACACACACACACAGCTCCACACACACACACACACAGCTCCACAC ACACACACAGCTCCACACACACACACACACACAGCTCCCCACACACACAC AGCTCCACACACACACACACAGCTCCACACACACACACAGCTCCACACAC ACACACAGCTCCACACACA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0010 a0001c0011t0010	a0001c0011t0010g0150 a0001c0011t0010g0150	1	330	0.0030	1218	c.882 others(1235): Show c.882+1086_882+1087insTGTGTGTGGAGCTGTGTGTGTGTGTGGA GCTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGGAGCTGTGTGTGTG TGGGGAGCTGTGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGC TGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGGAGCTGTGTGTG TGTGTGTGTGGAGCTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGGAGC TGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTG TGTGGAGCTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGTGTGGAGCTG TGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGGAGCTGTGTGTGTGTGTG TGGAGCTGTGTGTGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTG GAGCTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTGTGTGTGTGTG TGTGTGTGGAGCTGTGTGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTG TGTGGAGCTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGGAGCTGTG TGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGTGGAGCTGTGTGTG TGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGTGTG TGGAGCTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTGTGTGTG TGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGA GCTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGGAGCTGTGTGTGTG TGGGGAGCTGTGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGC TGTGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGGAGCTGTGTG TGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGGA GCTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGTGTGGAGCTGTGTGTG TGTGTGGAGCTGTGTGTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTG TGGAGCTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGGAGCTGTGTGTG TGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGGA GCTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGTGTG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48			chr2	TogoVar
KIF3B_chr20_32272651_32340011	32322993	C C	CATATTTA others(1211): Show CATATTTATACATATTTATATATACATATTTATATACATTTATATACATA TTTATATATACATTTATATATACATTTATATATACATATTTATATATATT TATATATATTTATAGATATATATTTATATATATATTTATATTTATATATA TTTATTTATATTTATATATATTTATATATATTTATTTATATTTATATTTA TATTTATATTTATTTATATTTATATATATTTATATTTATATATTTATATA TATTTATATATATTTATATTTATATATTTATATATTTATATATATATTTA TATATTTATATATATTTATATATATATTTATATATTTATATATATTTATA TATATATTTATATATTTATATATTTATATTTATATTTATATATTTATATA TATTTATATTTATATTTATATTTATATATATTTATATATATTTATATACA TATATTTATATATATATTTATATACATATATTTATATATATATTTATATA TATATTTATATATATATTTATATACATATATTTATATATGTATTTATATA TATATTTATATACATATATTTATATATATTTATATATATTTATATACATA TATTTATATATATATTTATATATATATTTATATACATATATTTATATATA TTTATATATATATTTATATATATATTTATATACATATATTTATATATATT TATATATATATTTATATACATATATTTATATATATTTATATATATATTTA TATACATATATTTATATATATTTATATATATTTATATACATATATTTATA TATATATTTATATACATATATTTATATATATATTTATATACATATATTTA TATATATATTTATATATATTTATATACATATATTTATATATATATATTTA TATACATATATTTATATATTTATATATATTTATATATATTCATATTTATA TTTATATATATTTATATATATATTTATATTTATATATATATTTATATTTA ATTATATTTATATATATTTATATATATATTTATATTTGTATATATTTATA TATATGTATATTTATATATATTTATATATTTATATATTTATATTTATATA TATCTATATATTTATATTTATATATATTTATATATTTATATTTATATATA TTTATATTTATATATATTTACATATATTTATATATTTATATTTATATATA TTTATATTTATATATATTT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0172 a0001c0001t0045g0172	1	242	0.0041	1218	c.174 others(1237): Show c.1749-3774_1749-3773insTTATACATATTTATATATACATATTT ATATACATTTATATACATATTTATATATACATTTATATATACATTTATAT ATACATATTTATATATATTTATATATATTTATAGATATATATTTATATAT ATATTTATATTTATATATATTTATTTATATTTATATATATTTATATATAT TTATTTATATTTATATTTATATTTATATTTATTTATATTTATATATATTT ATATTTATATATTTATATATATTTATATATATTTATATTTATATATTTAT ATATTTATATATATATTTATATATTTATATATATTTATATATATATTTAT ATATTTATATATATTTATATATATATTTATATATTTATATATTTATATTT ATATTTATATATTTATATATATTTATATTTATATTTATATTTATATATAT TTATATATATTTATATACATATATTTATATATATATTTATATACATATAT TTATATATATATTTATATATATATTTATATATATATTTATATACATATAT TTATATATGTATTTATATATATATTTATATACATATATTTATATATATTT ATATATATTTATATACATATATTTATATATATATTTATATATATATTTAT ATACATATATTTATATATATTTATATATATATTTATATATATATTTATAT ACATATATTTATATATATTTATATATATATTTATATACATATATTTATAT ATATTTATATATATATTTATATACATATATTTATATATATTTATATATAT TTATATACATATATTTATATATATATTTATATACATATATTTATATATAT ATTTATATACATATATTTATATATATATTTATATATATTTATATACATAT ATTTATATATATATATTTATATACATATATTTATATATTTATATATATTT ATATATATTCATATTTATATTTATATATATTTATATATATATTTATATTT ATATATATATTTATATTTAATTATATTTATATATATTTATATATATATTT ATATTTGTATATATTTATATATATGTATATTTATATATATTTATATATTT ATATATTTATATTTATATATATCTATATATTTATATTTATATATATTTAT ATATTTATATTTATATATATTTATATTTATATATATTTACATATATTTAT ATATTTATATTTATATATATTTATATTTATATATATTTATAT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
LRRC27_chr10_132327193_132386508	132364346	A A	ACATCTAC others(1211): Show ACATCTACCTCCACACCCGCGCTTACACCCACCCTTACATCTACCTCCAC ACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCC ACACCCGCGCTTACACCCACACTTACATCTACCTCCACACCCACACTTAC ACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTC ACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACAC TTACACCCACCCTTACATCTACCTCCACACCCACACTTACACCCACACTT ACATCTACCTCCACACCCACACTTACACCCACGTCCACACCCTGGGGCCC CACACTCAGGCAGTCCGCGTCCACGCTTACATCTACCTCCACGCCCACAC TTAACACCCACCCACACTTACATCTACCTGCACACCCACGCTTACACCCA CGTCCACACCGTGGGGCCCCACACTCATGCAGTCCGCGTCCACGCTTACA CCTACCTCCACGCCCACACTTACACTCATGCTTACATCTACCTCCACGCC CACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACA CCCACACTTACACCCACGCTTACATCTACCTCCACACCCACACTTACACC CACGCTTACATCTACCTCCACACCCACACTTACACCCACGCTTACATCTA CCTCCACGCCCACACTTACACCCACCCTTACATCTACCTCCACACCCACA CTTACACCCACCCACACTCACACCCACGCTTACATCTACCTCCACACCCA CACTTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACC CACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACA CCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCCA CACCCGCGCTTACACCCACCCACACTTACACCCACGCTTACATCTACCTC CACACCCGCGCTTACACCCACGCTTACATCTACCTCCACACCCACACTTA CACCCACGCTTACATCTACCTCCACACCCACACTTACACCCACCCACACT TACACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACA CTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCA CACTTACACCCACGCTTAC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0129 a0001c0001t0005g0129	1	290	0.0035	1218	c.129 others(1237): Show c.1290-1078_1290-1077insCATCTACCTCCACACCCGCGCTTACA CCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTA CACCCACGCTTACATCTACCTCCACACCCGCGCTTACACCCACACTTACA TCTACCTCCACACCCACACTTACACCCACCCTTACATCTACCTCCACACC CACACTCACACCCACCCACACTCACACCCACCCTTACATCTACCTCCACA CCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCCA CACCCACACTTACACCCACACTTACATCTACCTCCACACCCACACTTACA CCCACGTCCACACCCTGGGGCCCCACACTCAGGCAGTCCGCGTCCACGCT TACATCTACCTCCACGCCCACACTTAACACCCACCCACACTTACATCTAC CTGCACACCCACGCTTACACCCACGTCCACACCGTGGGGCCCCACACTCA TGCAGTCCGCGTCCACGCTTACACCTACCTCCACGCCCACACTTACACTC ATGCTTACATCTACCTCCACGCCCACACTCACACCCACCCACACTTACAC CCACCCTTACATCTACCTCCACACCCACACTTACACCCACGCTTACATCT ACCTCCACACCCACACTTACACCCACGCTTACATCTACCTCCACACCCAC ACTTACACCCACGCTTACATCTACCTCCACGCCCACACTTACACCCACCC TTACATCTACCTCCACACCCACACTTACACCCACCCACACTCACACCCAC GCTTACATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCC ACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACAC CCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTAC ACCCACGCTTACATCTACCTCCACACCCGCGCTTACACCCACCCACACTT ACACCCACGCTTACATCTACCTCCACACCCGCGCTTACACCCACGCTTAC ATCTACCTCCACACCCACACTTACACCCACGCTTACATCTACCTCCACAC CCACACTTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCAC ACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCTCC ACACCCACACTCACACCCACCCACACTTACACCCACGCTTAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10			chr10	TogoVar
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(1211): Show GCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCAC CCGCTACCCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCT CACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCT CTCACCCCCTATCCCGGCCCCCGGCTCTCACCCGCTACCCCCGGCCCCCG GCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCC CGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCC CCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGC CCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCG GCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCC GGCCCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCC CGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTAC CCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCC TACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTC CTACCCCGGCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACC CGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCA CCCCCTATCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCT CACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCT CTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGC TCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCC GGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCC CGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCC CCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGC CCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCG GCCCCCGGGCTCTCACTCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	394	0.0025	1218	c.-8+ others(1231): Show c.-8+108_-8+109insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGG AGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTA GGGGGTGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGGCCGGGG TAGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCC GGGGTAGCGGGTGAGAGCCGGGGGCCGGGATAGGGGGTGAGAGCCGGGGG CCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCG GGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCG GGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCC GGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGA GCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGGGGTAGGAGGTG AGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGT GAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAG CGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGG TAGCGGGTGAGAGCCGGGGGCCGGGATAGGGGGTGAGAGCCGGGGGCCGG GGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCC GGGGTAGGGGGTGAGAGCCGGGGGCCGGGGGTAGCGGGTGAGAGCCGGGG GCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MRTFA_chr22_40405289_40641719	40537435	G G	GGGCCAGC others(1211): Show GGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGTCAGCCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGC CCCCCTGCCCGGCCGGCCTCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTCGGGGGG TCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC GGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGT CGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCCCGTCCAGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCGGCCA GCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAG CCGTGCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCACGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATG GGGGGGTCAGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCTCCGCCC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0208 a0001c0016t0001g0208	1	256	0.0039	1218	c.241 others(1237): Show c.241+14670_241+14671insGGGCGGAGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCC CTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGTGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCA GGCGGGGGACTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGG GCGGGGGGGCTGACCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCC CACACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCG ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGAGGCCGGCCGGGCAGGGGGGCTGACC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGGCTGACCCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MUSK_chr9_110663791_110811558	110690417	A A	AATATAAA others(1211): Show AATATAAATATATATTTAAATATAAGTATATATAAATATATATATTTAAA TATAAGTATGTATATAAATATATATATTTAAATATAAGTATGTATATAAA TATATATATTTAAATATAAGTATGTATATAAATATATATATTTCAATATA AGTATGTATATAAATATATATATTTCAATATAAGTATATAAAAATATATA TATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATG TATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATT TCAATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAA TATATATTTCAATATAAGTATATATAAAAATATATATATTTAAATATAAG TATATATAAAAATATATATATTTAAATATAAGTATATATAAAAATATATA TATTTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATA TATAAAAATATATATATTTAAATATAAGTATATATAAAAATATATATATT TAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATATA AATATATATATTTAAATATAAGTATATATATAAAAATATATATATTTAAA TATAAGTATATATATAAAAATATATATATTTAAATATAAGTATATATATA AAAATATATATATTTAAATATAAGTATATATATAAAAATATATATATTTA AATATAAGTATATATATAAAAATATATATATTTAAATATAAGTATACATA TAAATATATATATTTAAATATAAGTATACATATAAATATATATATTTAAA TATAAGTATACATATAAATATATATATTTATATATAAGTATACATATAAA TATATATATTTATATATAAGTATATATATAAATATATATTTATATATAAG TATATATATATTTATATATAAGTATATATATAAATATATATATTTATATA TAAGTATATATATATTTAAATATAAGTATATATAAATATATATATTTATA TATAAGTGTATATATATAAATATATATATTTATATATAAGTGTATATATA TAAATATATATATTTATATATAAGTATATATAAATATATATATTTATATA TAAGTATATATAAATATATATATTTAAATATAAGTATATATAAATATATA TATTTAAATATAAGTATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0178 a0001c0001t0012g0178	1	326	0.0031	1218	c.358 others(1235): Show c.358+3165_358+3166insAAATATAAGTATATATAAATATATATAT TTAAATATAAGTATGTATATAAATATATATATTTAAATATAAGTATGTAT ATAAATATATATATTTAAATATAAGTATGTATATAAATATATATATTTCA ATATAAGTATGTATATAAATATATATATTTCAATATAAGTATATAAAAAT ATATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAA GTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATAT ATATTTCAATATAAGTATGTATAAATATATATATTTCAATATAAGTATGT ATAAATATATATTTCAATATAAGTATATATAAAAATATATATATTTAAAT ATAAGTATATATAAAAATATATATATTTAAATATAAGTATATATAAAAAT ATATATATTTAAATATAAGTATATATAAAAATATATATATTTAAATATAA GTATATATAAAAATATATATATTTAAATATAAGTATATATAAAAATATAT ATATTTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTAT ATATAAATATATATATTTAAATATAAGTATATATATAAAAATATATATAT TTAAATATAAGTATATATATAAAAATATATATATTTAAATATAAGTATAT ATATAAAAATATATATATTTAAATATAAGTATATATATAAAAATATATAT ATTTAAATATAAGTATATATATAAAAATATATATATTTAAATATAAGTAT ACATATAAATATATATATTTAAATATAAGTATACATATAAATATATATAT TTAAATATAAGTATACATATAAATATATATATTTATATATAAGTATACAT ATAAATATATATATTTATATATAAGTATATATATAAATATATATTTATAT ATAAGTATATATATATTTATATATAAGTATATATATAAATATATATATTT ATATATAAGTATATATATATTTAAATATAAGTATATATAAATATATATAT TTATATATAAGTGTATATATATAAATATATATATTTATATATAAGTGTAT ATATATAAATATATATATTTATATATAAGTATATATAAATATATATATTT ATATATAAGTATATATAAATATATATATTTAAATATAAGTATATATAAAT ATATATATTTAAATATAAGTATATATATAAATATATATTT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYO1F_chr19_8515778_8582442	8543831	G G	GTGCTGGT others(1211): Show GTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGG TGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGCTGGTGGTGGTGGTGGTGATGGTGGTGGTGCTGGTGGT GCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGG TGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTG GTGGTGGTGGTGATGGTGGTGGTGCTGGTGGTGGTGATGGTGGTGGTGCT GGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGG TGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTG GTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGT GGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGG TGGTGGTGATGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGT GGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGG TGGTGGTGCTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGATG GTGGTGGTGCTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGCTGGTGGTGGTGCTGGTGGTGCTGGTGGTGCTGGTGG TGGTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGCTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGCTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGCTGG TGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTG GTGGTGGTGCTGGTGGTGC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0117 a0001c0001t0003g0117	1	342	0.0029	1218	c.152 others(1235): Show c.1524+465_1524+466insGCACCACCAGCACCACCACCACCACCAC CACCACCAGCACCACCACCACCACCAGCACCACCACCACCACCAGCACCA CCAGCACCACCACCACCACCACCACCACCACCACCACCACCACCACCAGC ACCACCAGCACCACCAGCACCACCACCACCACCACCACCACCACCACCAC CAGCACCACCAGCACCACCAGCACCACCACCACCACCACCACCACCAGCA CCACCAGCACCACCAGCACCACCACCAGCACCACCACCACCACCACCACC ACCACCACCACCAGCACCACCAGCACCACCAGCACCACCACCATCACCAC CACCACCACCAGCACCACCACCACCACCACCAGCACCACCACCACCACCA CCAGCACCACCACCACCACCACCACCACCACCAGCACCACCACCACCACC ACCAGCACCACCACCACCACCACCAGCACCACCACCACCACCACCACCAC CACCACCACCACCACCACCAGCACCACCACCATCACCACCACCACCACCA GCACCACCACCACCACCACCACCACCACCAGCACCACCACCACCACCACC AGCACCACCACCACCACCACCAGCACCACCACCACCACCACCACCACCAC CAGCACCACCACCACCACCACCAGCACCACCACCACCACCACCAGCACCA CCACCACCACCACCACCACCACCAGCACCACCAGCACCACCAGCACCACC ACCATCACCACCACCAGCACCACCACCATCACCACCACCACCACCAGCAC CACCACCACCACCACCACCACCACCACCACCACCAGCACCACCACCACCA CCACCACCAGCACCACCACCACCACCACCAGCACCACCAGCACCACCAGC ACCACCACCATCACCACCACCACCACCAGCACCACCACCACCACCACCAC CACCACCACCACCACCACCAGCACCACCACCACCATCACCACCACCACCA CCACCACCACCACCACCAGCACCACCACCACCACCACCACCACCACCACC ACCACCACCACCACCAGCACCACCACCACCACCACCACCACCACCATCAC CACCACCACCACCACCACCACCACCACCAGCACCACCACCACCACCACCA CCACCACCAGCACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCAGCACCACCACCACCACCACCACCACCACCAGCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
PNPLA7_chr9_137454952_137555402	137502685	A A	AGGGGGAT others(1211): Show AGGGGGATGTGGGAGATGAGGGGGACGGGGGGGACGCGGGGGACGGGGGG GACGCGGGGGACGCGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGG GGGGGCGGGGGGGGCGGGGGGGACGCGGGGGACGGGGGGGACGGGGGGGA CGGGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGGGG GGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGACGCGGGGGGA CGCGGGGGACGGGGGGGACGGGGGGGACGCGGGGGACGCGGGGGGACGGG GGGGACGCGGGGGGACGGGGGGGGACGCGGGGGACGGGGGGGGACGCGGG GGACGGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGGACGGGGGGGAC GCGGGGGGACGCGGGGGGACGGGGGGGACGCGGGGGGACGGGGGGGACGC GGGGGGGACCGGGGGGACGGGGGGGACGGGGGGGGCGGGGGGGGCGGGGG GGACGCGGGGGGCGGGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACG CGGGGGGACGGGGGGGACGCGGGGGGGACGGGGGGGACGGGGGGGACGGG GGGGCGGGGGGGGCGCGGGGGACGCGGGGGGCGGGGGGGGCGGGGGGGGC GGGGGGGACGCGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGGGCGGGGG GGACGCGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACG GGGGGGCGGGGGGGGCGGGGGGGACGCGGGGGGCGCGGGGGGCGGGGGGG ACGGGGGGGACGGGGGGGGCGGGGGGGGCGGGGGGGACGCGGGGGACGCG GGGGACGGGGGGGACGCGGGGGACGGGGGGGACGGGGGGGCGGGGGGGAC GCGGGGGGCGCGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGGGCGGGGG GGACGGGGGGGACGGGGGGGACGCGGGGGGACGGGGGGGACGGGGGGGAC GCGGGGGGCGGGGGGGACGGGGGGGACGGGGGGGGCGGGGGGGGCGGGGG GGACGCGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACG GGGGGGGCGGGGGGGGCGGGGGGGACGCGGGGGGCGCGGGGGGCGGGGGG GGCGGGGGGGGCGGGGGGGGCGGGGGGGACGGGGGGGACGGGGGGGACGC GGGGGGACGGGGGGGACGG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0116 a0009c0010t0001g0116	1	188	0.0053	1218	c.147 others(1235): Show c.1474-959_1474-958insCCGTCCCCCCCGTCCCCCCGCGTCCCCC CCGTCCCCCCCGTCCCCCCCGCCCCCCCCGCCCCCCCCGCCCCCCCCGCC CCCCGCGCCCCCCGCGTCCCCCCCGCCCCCCCCGCCCCCCCCGTCCCCCC CGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCCCGCCC CCCCCGCCCCCCCCGTCCCCCCCGTCCCCCCCGCCCCCCGCGTCCCCCCC GTCCCCCCCGTCCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCGCCC CCCCCGCCCCCCCCGCCCCCCCCGCCCCCCGCGCCCCCCGCGTCCCCCCC GCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCC CGCGTCCCCCCCGCCCCCCCCGCCCCCCCCGTCCCCCCCGTCCCCCCCGC CCCCCGCGCCCCCCGCGTCCCCCCCGCCCCCCCCGCCCCCCCGTCCCCCC CGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCCCGCCC CCCCCGCCCCCCCCGCCCCCCCCGCCCCCCGCGTCCCCCCCGCCCCCCCC GCCCCCCCCGCCCCCCGCGTCCCCCGCGCCCCCCCCGCCCCCCCGTCCCC CCCGTCCCCCCCGTCCCCCCCGCGTCCCCCCCGTCCCCCCGCGTCCCCCC CGTCCCCCGCGTCCCCCCCGTCCCCCCCGCCCCCCGCGTCCCCCCCGCCC CCCCCGCCCCCCCCGTCCCCCCCGTCCCCCCGGTCCCCCCCGCGTCCCCC CCGTCCCCCCGCGTCCCCCCCGTCCCCCCGCGTCCCCCCGCGTCCCCCCC GTCCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCC CCCCCCGTCCCCCGCGTCCCCCCCCGTCCCCCCGCGTCCCCCCCGTCCCC CCGCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCGC GTCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCC CCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCG TCCCCCCCGTCCCCCGCGTCCCCCCCGCCCCCCCCGCCCCCCCGTCCCCC GCGTCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCGCGTCCCCCCCGTC CCCCGCGTCCCCCCCGTCCCCCTCATCTCCCACATCCCCC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
POM121_chr7_72920095_72953299	72931574	C C	CTTTTTTT others(1211): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGATTTGTATTTTCT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTGATCATTCTTGGGTGTTT CTCGCACAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGAGGGAAGGT CAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGAC CCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGATTAGGGAG TGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCATCTGTTTAACAAA GCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCAC ATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATGAACAGGATC CCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCA TGTCTACTTCTTTCTACACAGACACGGCAACCATCCGATTTCTCAATCTT TTCCCCACCTTTCCCCGCCTTCTATTCCACAAAACCGCCATTGTCATCAT GGCCCGTTCTCAATGAGCTGCTGGGCACACCTCCCAGACGGGGTGGTGGC CCGGCAGAGGGGCTCCTCACCTCCCAGTAGGGGTGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGACTGACCCCCCC ACCTCCCTCCCGGACAGGGCGGCTGTCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGTGGCCGGGCAGAGGCACCCCTCACCTCCCAGACGGGGCTG CTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGG CACCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCTGGGCAGAGGCACCCCTCACCTCCCGGACGGGG CGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGA GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCA GAGGCACCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCTCTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0015 a0015	a0015c0039 a0015c0039	a0015c0039t0001 a0015c0039t0001	a0015c0039t0001g0111 a0015c0039t0001g0111	1	424	0.0024	1218	c.127 others(1237): Show c.1275+1478_1275+1479insTTTTTTTTTTTTTTTTTTTTGATTTG TATTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTGATCATTCTT GGGTGTTTCTCGCACAGGGGGATTTGGCAGGGTCATAGGACAATAGTGGA GGGAAGGTCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGG CAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTGTCCCTGGGTACTTGAGA TTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTTCAAGCATCTGT TTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGA CACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATGA ACAGGATCCCAAGGCAGAAGAATTTTTCTTAGTACAGAACAAAATGAAAA GTCTCCCATGTCTACTTCTTTCTACACAGACACGGCAACCATCCGATTTC TCAATCTTTTCCCCACCTTTCCCCGCCTTCTATTCCACAAAACCGCCATT GTCATCATGGCCCGTTCTCAATGAGCTGCTGGGCACACCTCCCAGACGGG GTGGTGGCCCGGCAGAGGGGCTCCTCACCTCCCAGTAGGGGTGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGACTG ACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGTCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGTGGCCGGGCAGAGGCACCCCTCACCTCCCAGA CGGGGCTGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTG GGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCACCCCTCACCTCCC GGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGAGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCTGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCTCTTTTTTTTTTTTTTTTTTTT	POM121	ENSG00000196313.13	transcript	ENST00000434423.5	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
PRKX_chrX_3599340_3718649	3639307	G G	GGATGGAT others(1211): Show GGATGGATGAAGGGTGGGTGGATGGATGATTGAATGAAGGGGTGGGGGTG GATGGATGAAGGGGTGGGGTGGTAGATGGATGAAGGGGTAGAGGGGTGGG GGGGTGGGGGGGTGGGTGCATGGATGGATGAAGGGGTGGGGGTGGATGGA TGAAGGGGTGGGTGCATGGATGGATGAAGGGGTGGGGGTGGATGGATGAA GGGGTGGGTGCATGGATGGATGAAGGGGTGGGGGTGGATGGATGAAGGGG TGGGGTGGTAGATGGATGAAGGGGTGGGGGGGGTGGATGGATGAAGGGGT GGGGGTGGATGGATGAAGGGGTGGGGTGGTAGATGGATGAAGGGGTGGGG GGGGTGGATGGATGAAGGGGTGGGGGGGTGGATGGATGAAGGGGTGGGGG TGGATGGATGAAGGGGTGGGGGGTGGATGGATGAAGGGGTGGGGTGGTAG ATGGATGAAGGGGTGGGGGGGTGGATGGATGAAGGGGTGGGGGTGGATGG ATGAAGGGGTGGGGGGGGTGGATGGATGAAGGGGTGGGGGTGGATGGATG AAGGGGTGGGGGTGGATGGATGAAGGGGTGGTGGGGGTGGATGGATGAAG GGGTGGGGGTGGATGGATGAAGGGGTGGGGGGGTGGATGGATGAAGGGGT GGGGTGGTAGATGGATGAAGGGGTGGGGGGGGTGGATGGATGAAGGGGTG GGGGGGTGGATGGATGAAGGGGTGGGGTGGTAGATGGATGAAGGGGTGGG GGGGGTGGATGGATGAAGGGGTGGGGTGGTAGATGGATGAAGGGGTGGGG GGGTGGATGGATGAAGGGGTGGGGGTGGATGGATGAAGGGGTGGGGGTGG ATGGATGAAGGGGTGGGGGGGTGGATGGATGAAGGGGTGGGGGTGGATGG ATGAAGGGGTGGTGGGGGTGGATGGATGAAGGGGTGGGGGTGGATGGATG AAGGGGTGGGGGGGGTGGATGGATGAAGGGGTGGGGTGGTAGATGGATGA AGGGGTAGAGGGGTGGGGGGGTGGGGGGGGTGGGTGCATGGATGGATGAA GGGGTGGGGGTGGATGGATGAAGGGGTGGGTGCATGGATGGATGAAGGGG TGGGGGGGGTGGGGGGGTGGGTGCATGGATGGATGAAGGGGTGGGGGTGG ATGGATGAAGGGGTGGGTGCATGGATGGATGAAGGGGTGGGGGTGGATGG ATGAAGGGGTGGGGTGGTA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0004 a0001c0001t0006g0004	1	227	0.0044	1218	c.719 others(1235): Show c.719+2544_719+2545insTACCACCCCACCCCTTCATCCATCCACC CCCACCCCTTCATCCATCCATGCACCCACCCCTTCATCCATCCACCCCCA CCCCTTCATCCATCCATGCACCCACCCCCCCACCCCCCCCACCCCTTCAT CCATCCATGCACCCACCCCTTCATCCATCCACCCCCACCCCTTCATCCAT CCATGCACCCACCCCCCCCACCCCCCCACCCCTCTACCCCTTCATCCATC TACCACCCCACCCCTTCATCCATCCACCCCCCCCACCCCTTCATCCATCC ACCCCCACCCCTTCATCCATCCACCCCCACCACCCCTTCATCCATCCACC CCCACCCCTTCATCCATCCACCCCCCCACCCCTTCATCCATCCACCCCCA CCCCTTCATCCATCCACCCCCACCCCTTCATCCATCCACCCCCCCACCCC TTCATCCATCTACCACCCCACCCCTTCATCCATCCACCCCCCCCACCCCT TCATCCATCTACCACCCCACCCCTTCATCCATCCACCCCCCCACCCCTTC ATCCATCCACCCCCCCCACCCCTTCATCCATCTACCACCCCACCCCTTCA TCCATCCACCCCCCCACCCCTTCATCCATCCACCCCCACCCCTTCATCCA TCCACCCCCACCACCCCTTCATCCATCCACCCCCACCCCTTCATCCATCC ACCCCCACCCCTTCATCCATCCACCCCCCCCACCCCTTCATCCATCCACC CCCACCCCTTCATCCATCCACCCCCCCACCCCTTCATCCATCTACCACCC CACCCCTTCATCCATCCACCCCCCACCCCTTCATCCATCCACCCCCACCC CTTCATCCATCCACCCCCCCACCCCTTCATCCATCCACCCCCCCCACCCC TTCATCCATCTACCACCCCACCCCTTCATCCATCCACCCCCACCCCTTCA TCCATCCACCCCCCCCACCCCTTCATCCATCTACCACCCCACCCCTTCAT CCATCCACCCCCACCCCTTCATCCATCCATGCACCCACCCCTTCATCCAT CCACCCCCACCCCTTCATCCATCCATGCACCCACCCCTTCATCCATCCAC CCCCACCCCTTCATCCATCCATGCACCCACCCCCCCACCCCCCCACCCCT CTACCCCTTCATCCATCTACCACCCCACCCCTTCATCCATCCACCCCCAC CCCTTCATTCAATCATCCATCCACCCACCCTTCATCCATC	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8			chrX	TogoVar
RABL6_chr9_136802948_136846187	136803280	G G	GCCGGGGG others(1211): Show GCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGG GGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCGGCCCTCTTGGATCTTCGG ATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC GGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGC CAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0001 a0001c0006t0001g0001	1	330	0.0030	1218	c.-49 others(1229): Show c.-4917_-4916insCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCGGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGG GGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGG ATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAG CCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCG GGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4667		chr9	TogoVar
RPEL1_chr10_103240887_103253016	103251122	C C	CCACCACC others(1211): Show CCACCACCACCAACACCACCACGACTACCATCACCACCACCATCACCACC TCCACCATCATCACCACCTCCACCATCACCACCTCCAACACCACCACCAC CACCATCACCACCTCCACCACCATCACCACCTCCACCATCACCACCACCA CCATCACCACCACCACCACCATCACCACCTCCAACACCACCTCCACCACC ATCACCACCACCACCACCACCATCACCACCATCACCACCTCCACCACCAT CACCACCACCTCCACCACCACCACCACCATCACCACCTCCACCACCATCA CCACCACCACCATCACCACCTCCACCACCATCACCACCACCACCATCACC ACCTCCACCACCATCACCACCACCACCATCACCACCACCACCACCATCAC CACCTCCACCACCATCACCACCACCAACACCACCACCACCATCACCACCT CCACCACCATCACCACCTCCACCACCACCATCACCACCTCCACCACAACC ACCATCACCACCACCACCATCACCACCTCCACCACCATCACCACCTCCAC CACCATCACCACCTCCACCATCACCACCACCACCACTATCACCACCTCCA CCACCACCACCACCACCACCATCACCACCTCCACCACCATCATCACCTCC ACCACAACCACCATCACCACCACCATCACCAACACCACCACCATCACCAC CACCACCACCATCACCACCACAACCACCATCACCACCACCACCATCACCA CCTGCACCACCATCACCACCTCCACCACCATCACCACCACCTCCACCACT ATCACCACCTCCACCACCACCACCACCACCATCACCACCTCCACCACCAC CACCACCACCATCACCACCTCCACCACCATCACCACCTCCACCACCTCCA CCACCATCACCACCTCCACCACTACCACCACCACCACCAACACCACCACC ATCACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCAC CATCACCACCTCCACCACCATCACCACCTCCACCACCATCACCACCTCCA CTACCATCACCACCTCCACCACCACCACCATCACCATCACCACCACCACC ACCTCCACCACCATCATCACCACCACCACCATCACCACCACCACCATCAC CACCACCACCACCATCACCTCCACCATCACCACCTCCACTACCACCACCA CCACCTCCACCACCACCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	375	0.0027	1218	c.44 others(1229): Show c.4439_*4440insCACCACCACCAACACCACCACGACTACCATCACC ACCACCATCACCACCTCCACCATCATCACCACCTCCACCATCACCACCTC CAACACCACCACCACCACCATCACCACCTCCACCACCATCACCACCTCCA CCATCACCACCACCACCATCACCACCACCACCACCATCACCACCTCCAAC ACCACCTCCACCACCATCACCACCACCACCACCACCATCACCACCATCAC CACCTCCACCACCATCACCACCACCTCCACCACCACCACCACCATCACCA CCTCCACCACCATCACCACCACCACCATCACCACCTCCACCACCATCACC ACCACCACCATCACCACCTCCACCACCATCACCACCACCACCATCACCAC CACCACCACCATCACCACCTCCACCACCATCACCACCACCAACACCACCA CCACCATCACCACCTCCACCACCATCACCACCTCCACCACCACCATCACC ACCTCCACCACAACCACCATCACCACCACCACCATCACCACCTCCACCAC CATCACCACCTCCACCACCATCACCACCTCCACCATCACCACCACCACCA CTATCACCACCTCCACCACCACCACCACCACCACCATCACCACCTCCACC ACCATCATCACCTCCACCACAACCACCATCACCACCACCATCACCAACAC CACCACCATCACCACCACCACCACCATCACCACCACAACCACCATCACCA CCACCACCATCACCACCTGCACCACCATCACCACCTCCACCACCATCACC ACCACCTCCACCACTATCACCACCTCCACCACCACCACCACCACCATCAC CACCTCCACCACCACCACCACCACCATCACCACCTCCACCACCATCACCA CCTCCACCACCTCCACCACCATCACCACCTCCACCACTACCACCACCACC ACCAACACCACCACCATCACCACCACCACCATCACCACCACCACCATCAC CACCACCACCACCACCATCACCACCTCCACCACCATCACCACCTCCACCA CCATCACCACCTCCACTACCATCACCACCTCCACCACCACCACCATCACC ATCACCACCACCACCACCTCCACCACCATCATCACCACCACCACCATCAC CACCACCACCATCACCACCACCACCACCATCACCTCCACCATCACCACCT CCACTACCACCACCACCACCTCCACCACCACCAT	RPEL1	ENSG00000235376.5	transcript	ENST00000441178.2	protein_coding		3107		chr10	TogoVar
TERT_chr5_1248167_1300068	1291460	C C	CAGGGACA others(1211): Show CAGGGACACCCGGGGACCGCGCCTCACTCACCCTGCACGTGACAGGGACA CCCGGGGACCGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGG CCGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGGCCGCGCCT CACTCACCCTGCACGTGACAGGGACACCCGGGGGCCGCGCCTCACTCACC CTGCACGTGACAGGGACACCCAGGGGCCGTGCCTCACTCACCCTGCACGT GACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGAGA CACCCGGGGACGGCGCCTCACTCACCCTGCACGGGACAGGGACACCCGGG GACGGCGCCTCACTCACCCTGCACGTGACAGGGACACCCAGGGGCCGTGC CTCACTCACCCTGCACGTGACAGGGACACCCGGGGACGGCACCTCACTCA CCCTGCACGTGACAGAGACACCCGGGGACGGCGCCTCACTCACCCTGCAC GGGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGG GACACCCGGGGACCGCGCCTCACTCACCCTGCACGTGACAGGGACACCCG GGGGCCGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGGCCGT GCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACGGCGCCTCACT CACCCTGCACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGC ACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGGGACA GGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGGGACAGGGACACC CGGGGACGGCGCCTCACTCACCCTGCACGGGACAGGGACACCCGGGGACG GCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACGGCGCCTCA CTCACCCTACACGTGACAGGGACACCTGGGGACCGCGCCTCACTCACCCT GCACGTGACAGGGACACCTGGGGACAGTGCCTCACTCACCCTACACGTGA CAGGGACACCTGGGGACCGCGCCTCACTCACCCTGCACGTGACAGGGACA CCCGGGGACAGTGCCTCACTCACCCTATACCTGGGAGGGACACCCAGGGA CGGTGCCTCACTCACCCTACACGTGACAGGGACACCCTGGGGCCGCGCCT CACTCACCCTACACCTGAG	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18975.hp1 HG02165.hp2 NA18975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0045 a0001c0002t0001g0046	2	392	0.0051	1218	c.157 others(1237): Show c.1573+1852_1573+1853insCTCAGGTGTAGGGTGAGTGAGGCGCG GCCCCAGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCACCGTCCCTGG GTGTCCCTCCCAGGTATAGGGTGAGTGAGGCACTGTCCCCGGGTGTCCCT GTCACGTGCAGGGTGAGTGAGGCGCGGTCCCCAGGTGTCCCTGTCACGTG TAGGGTGAGTGAGGCACTGTCCCCAGGTGTCCCTGTCACGTGCAGGGTGA GTGAGGCGCGGTCCCCAGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCG CCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCC GGGTGTCCCTGTCCCGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCC CTGTCCCGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCCCG TGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGT GAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGG CGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCACGGCCC CCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCGGCCCCCGGGTGT CCCTGTCACGTGCAGGGTGAGTGAGGCGCGGTCCCCGGGTGTCCCTGTCA CGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCCCGTGCAGG GTGAGTGAGGCGCCGTCCCCGGGTGTCTCTGTCACGTGCAGGGTGAGTGA GGTGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCACGGC CCCTGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGT GTCCCTGTCCCGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCTCTGT CACGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCA GGGTGAGTGAGGCACGGCCCCTGGGTGTCCCTGTCACGTGCAGGGTGAGT GAGGCGCGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCG GCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCGGCCCCCGG GTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCGGTCCCCGGGTGTCCCT GTCACGTGCAGGGTGAGTGAGGCGCGGTCCCCGGGTGTCCCT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1291460	C C	CAGGGACA others(1211): Show CAGGGACACCCGGGGACCGCGCCTCACTCACCCTGCACGTGACAGGGACA CCCGGGGGCCGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGG CCGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGGCCGCGCCT CACTCACCCTGCACGTGACAGGGACACCCGGGGGCCGCGCCTCACTCACC CTGCACGTGACAGGGACACCCAGGGGCCGTGCCTCACTCACCCTGCACGT GACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGAGA CACCCGGGGACGGCGCCTCACTCACCCTGCACGGGACAGGGACACCCGGG GACGGCGCCTCACTCACCCTGCACGTGACAGGGACACCCAGGGGCCGTGC CTCACTCACCCTGCACGTGACAGGGACACCCGGGGACGGCACCTCACTCA CCCTGCACGTGACAGAGACACCCGGGGACGGCGCCTCACTCACCCTGCAC GGGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGG GACACCCGGGGACCGCGCCTCACTCACCCTGCACGTGACAGGGACACCCG GGGGCCGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGGCCGT GCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACGGCGCCTCACT CACCCTGCACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGC ACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGGGACA GGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGGGACAGGGACACC CGGGGACGGCGCCTCACTCACCCTGCACGGGACAGGGACACCCGGGGACG GCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACGGCGCCTCA CTCACCCTACACGTGACAGGGACACCTGGGGACCGCGCCTCACTCACCCT GCACGTGACAGGGACACCTGGGGACAGTGCCTCACTCACCCTACACGTGA CAGGGACACCTGGGGACCGCGCCTCACTCACCCTGCACGTGACAGGGACA CCCGGGGACAGTGCCTCACTCACCCTATACCTGGGAGGGACACCCAGGGA CGGTGCCTCACTCACCCTACACGTGACAGGGACACCCTGGGGCCGCGCCT CACTCACCCTACACCTGAG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0042 a0001c0002t0001g0042	1	392	0.0026	1218	c.157 others(1237): Show c.1573+1852_1573+1853insCTCAGGTGTAGGGTGAGTGAGGCGCG GCCCCAGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCACCGTCCCTGG GTGTCCCTCCCAGGTATAGGGTGAGTGAGGCACTGTCCCCGGGTGTCCCT GTCACGTGCAGGGTGAGTGAGGCGCGGTCCCCAGGTGTCCCTGTCACGTG TAGGGTGAGTGAGGCACTGTCCCCAGGTGTCCCTGTCACGTGCAGGGTGA GTGAGGCGCGGTCCCCAGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCG CCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCC GGGTGTCCCTGTCCCGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCC CTGTCCCGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCCCG TGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGT GAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGG CGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCACGGCCC CCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCGGCCCCCGGGTGT CCCTGTCACGTGCAGGGTGAGTGAGGCGCGGTCCCCGGGTGTCCCTGTCA CGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCCCGTGCAGG GTGAGTGAGGCGCCGTCCCCGGGTGTCTCTGTCACGTGCAGGGTGAGTGA GGTGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCACGGC CCCTGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGT GTCCCTGTCCCGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCTCTGT CACGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCA GGGTGAGTGAGGCACGGCCCCTGGGTGTCCCTGTCACGTGCAGGGTGAGT GAGGCGCGGCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCG GCCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCGGCCCCCGG GTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCGGCCCCCGGGTGTCCCT GTCACGTGCAGGGTGAGTGAGGCGCGGTCCCCGGGTGTCCCT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1291460	C C	CAGGGACA others(1211): Show CAGGGACACCCGGGGGCCGCGCCTCACTCACCCTGCACGTGACAGGGACA CCCGGGGGCCGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGG CCGCGCCTCACTCACCCTGCACGTGACAGGGACACCCAGGGGCCGTGCCT CACTCACCCTGCACGTGACAGGGACACCCGGGGACGGCGCCTCACTCACC CTGCACGTGACAGAGACACCCGGGGACGGCGCCTCACTCACCCTGCACGG GACAGGGACACCCGGGGACGGCGCCTCACTCACCCTGCACGTGACAGGGA CACCCAGGGGCCGTGCCTCACTCACCCTGCACGTGACAGGGACACCCGGG GACGGCACCTCACTCACCCTGCACGTGACAGAGACACCCGGGGACGGCGC CTCACTCACCCTGCACGGGACAGGGACACCCGGGGACGGCGCCTCACTCA CCCTGCACGTGACAGGGACACCCGGGGACCGCGCCTCACTCACCCTGCAC GTGACAGGGACACCCGGGGGCCGCGCCTCACTCACCCTGCACGTGACAGG GACACCCGGGGGCCGTGCCTCACTCACCCTGCACGTGACAGGGACACCCG GGGACGGCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACGGC GCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACGGCGCCTCACT CACCCTGCACGGGACAGGGACACCCGGGGACGGCACCTCACTCACCCTGC ACGTGACAGGGACACCCGGGGACGGGGCCTCACTCACCCTGAATGTGACA GGGACACCCGGGGACGGGGCCTCACTCACCCTACACGTGACAGGGACACC CGGGGACGGCGCCTCACTCACCCTGCACGGGACAGGGACACCCGGGGACG GCGCCTCACTCACCCTGCACGTGACAGGGACACCCGGGGACGGCGCCTCA CTCACCCTACACGTGACAGGGACACCTGGGGACCGCGCCTCACTCACCCT GCACGTGACAGGGACACCTGGGGACAGTGCCTCACTCACCCTACACGTGA CAGGGACACCTGGGGACCGCGCCTCACTCACCCTGCACGTGACAGGGACA CCCGGGGACAGTGCCTCACTCACCCTATACCTGGGAGGGACACCCAGGGA CGGTGCCTCACTCACCCTACACGTGACAGGGACACCCTGGGGCCGCGCCT CACTCACCCTACACCTGAG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	1	392	0.0026	1218	c.157 others(1237): Show c.1573+1852_1573+1853insCTCAGGTGTAGGGTGAGTGAGGCGCG GCCCCAGGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCACCGTCCCTGG GTGTCCCTCCCAGGTATAGGGTGAGTGAGGCACTGTCCCCGGGTGTCCCT GTCACGTGCAGGGTGAGTGAGGCGCGGTCCCCAGGTGTCCCTGTCACGTG TAGGGTGAGTGAGGCACTGTCCCCAGGTGTCCCTGTCACGTGCAGGGTGA GTGAGGCGCGGTCCCCAGGTGTCCCTGTCACGTGTAGGGTGAGTGAGGCG CCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCC GGGTGTCCCTGTCCCGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCC CTGTCACGTGTAGGGTGAGTGAGGCCCCGTCCCCGGGTGTCCCTGTCACA TTCAGGGTGAGTGAGGCCCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGT GAGTGAGGTGCCGTCCCCGGGTGTCCCTGTCCCGTGCAGGGTGAGTGAGG CGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCC CCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGT CCCTGTCACGTGCAGGGTGAGTGAGGCACGGCCCCCGGGTGTCCCTGTCA CGTGCAGGGTGAGTGAGGCGCGGCCCCCGGGTGTCCCTGTCACGTGCAGG GTGAGTGAGGCGCGGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGA GGCGCCGTCCCCGGGTGTCCCTGTCCCGTGCAGGGTGAGTGAGGCGCCGT CCCCGGGTGTCTCTGTCACGTGCAGGGTGAGTGAGGTGCCGTCCCCGGGT GTCCCTGTCACGTGCAGGGTGAGTGAGGCACGGCCCCTGGGTGTCCCTGT CACGTGCAGGGTGAGTGAGGCGCCGTCCCCGGGTGTCCCTGTCCCGTGCA GGGTGAGTGAGGCGCCGTCCCCGGGTGTCTCTGTCACGTGCAGGGTGAGT GAGGCGCCGTCCCCGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCACG GCCCCTGGGTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCGGCCCCCGG GTGTCCCTGTCACGTGCAGGGTGAGTGAGGCGCGGCCCCCGGGTGTCCCT GTCACGTGCAGGGTGAGTGAGGCGCGGCCCCCGGGTGTCCCT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	2/15			chr5	TogoVar
TMC6_chr17_78102397_78133755	78115870	G G	GGCGAAGG others(1211): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAG GGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGG CACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGG CGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGA GTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCAC AGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGA AGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTG GGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGG GGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0296 a0001c0001t0001g0296	1	444	0.0023	1218	c.227 others(1237): Show c.2277+1398_2277+1399insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCC TTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTC GCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCT GTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCAC TCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCG CCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTG CCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCC CTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTC CTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCC ACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTT CGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
ADPRHL1_chr13_113394611_113458488	113419038	C C	CCCCTTCC others(1212): Show CCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTT CCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTC CCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCT TCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCT TCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCC CTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTC CTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTC CTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCC CTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCT TCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCT TCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCC TTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTT CCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTC CCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTT CCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCT TCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCT TCCTTTCTTCCCCTTCCCCT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	262	0.0038	1219	c.106 others(1238): Show c.1061+3787_1061+3788insAGGGGAAGGGGAAGAAAGGAAGGAAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAG GGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGG AGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAA AGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGA AGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGG AGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAG GGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAG GAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAG GGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAG GGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAA GGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGG AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGG AAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGG AGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAG GAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAG GGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAG GGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAA AGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGA AGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGG AGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ARHGAP19_chr10_97217179_97297637	97251500	A A	AAGGGGAA others(1212): Show AAGGGGAAAGGAAGGAAGGGGGAGGGGAAGGGAAGGGGAAGGGAAGGGGA AGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAA GGGGAAGGGGAAGGGAAGGGAAAAGGGAAGGAGAAAAGGAAGGGAAGGGG AAGGGAAGGGGAAGATGAAGGGAAAGGGAAAAGGAAGGAGAAGAGGAGGG GAAGGGGAGGGGAAGGGAAGGGGAAGGGGAAAGAAAGGGAGAGGGAGGGG GCAGGGAAGGGAAGGGGAATGGAAGAGGAAGGAAGGGGAAGGAAGGGGAA TGGAAAGGAAGGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGGAAGGGGAA GGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGG GGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGG GAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGAAAGGAAGGGGAAG GGGGAGGGAAAGGAAAGGGGAATGGAAGGGAAGGGAAAGGAAGGGGAAGG GAAGGGGAAGGGAAGGGGAAGGGGAGGAGAAGGGGAAGGGGAAGGGAAAA GGAAGGAGAAGAGGAAGGGAAGGGGAGGGGAAGGCAAGGGGAAAGGAAGG AAGGGGGAGGGGAAGGGAAGGGGAGGGGAAGGGGAAGGGAAGGGGAGGGG AAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAGGGAAGGGGAAGGGAAAAG GAGAAGAGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGGAAAGGAAG GGGGGGAAGGGAAGGTGGAAGGAAGGGGAAGGGGAATGGAAAGGAAGGGG AAGGGGAAGGGAAGGGAAAGGGAAGGGGGAGGGGAAGGGGAAAGGGAAAG GAAGGGGAAGGGAAAGGAAGGGGGAGGGAAAGGAAAGGGGAAGGGAAGGG AAGGGGAAGGGAAGAGAAAGGAAGGGGAAGGGAAGGAGAAGGGGAGGGGA AGGGGAAGGGAAAAGGAGAAGAAGAGGGGAAGGGGAGGGGAAGGGAAGGG GAAAGGAAGGAAGGGGGAGGGGAAAGGAAGGAAGGGGGAGGGGAAGGGGA GGGGAAGGGGAGGGGAAGGGAGGGGAAGGGAAAGGGAAGGGGAAGATGAA GGGGAAGGGAAAAGGAAGGAGAAGAGGAGGGGAAGGGGAGGGAAAGGAAG GGGAAGGGGAGGGGAAGGGG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0061 a0001c0003t0015g0061	1	242	0.0041	1219	c.927 others(1236): Show c.927+4817_927+4818insCCCCTTCCCCTCCCCTTCCCCTTCCTTT CCCTCCCCTTCCCCTCCTCTTCTCCTTCCTTTTCCCTTCCCCTTCATCTT CCCCTTCCCTTTCCCTTCCCCTCCCTTCCCCTCCCCTTCCCCTCCCCTTC CCCTCCCCCTTCCTTCCTTTCCCCTCCCCCTTCCTTCCTTTCCCCTTCCC TTCCCCTCCCCTTCCCCTCTTCTTCTCCTTTTCCCTTCCCCTTCCCCTCC CCTTCTCCTTCCCTTCCCCTTCCTTTCTCTTCCCTTCCCCTTCCCTTCCC TTCCCCTTTCCTTTCCCTCCCCCTTCCTTTCCCTTCCCCTTCCTTTCCCT TTCCCCTTCCCCTCCCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCCTTCC TTTCCATTCCCCTTCCCCTTCCTTCCACCTTCCCTTCCCCCCCTTCCTTT CCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCTCTTCTCCTTTTCCC TTCCCCTTCCCTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCCTCCC CTTCCCTTCCCCTTCCCCTCCCCTTCCCTTCCCCTCCCCCTTCCTTCCTT TCCCCTTGCCTTCCCCTCCCCTTCCCTTCCTCTTCTCCTTCCTTTTCCCT TCCCCTTCCCCTTCTCCTCCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCC TTCCTTTCCCTTCCCTTCCATTCCCCTTTCCTTTCCCTCCCCCTTCCCCT TCCTTTCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCC CCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCC TCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTT CCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCCTTCCTTTCCATTCCCCTT CCTTCCCCTTCCTTCCTCTTCCATTCCCCTTCCCTTCCCTGCCCCCTCCC TCTCCCTTTCTTTCCCCTTCCCCTTCCCTTCCCCTCCCCTTCCCCTCCTC TTCTCCTTCCTTTTCCCTTTCCCTTCATCTTCCCCTTCCCTTCCCCTTCC CTTCCTTTTCTCCTTCCCTTTTCCCTTCCCTTCCCCTTCCCCTTCCCTTC CCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTC CCTTCCCCTTCCCTTCCCCTCCCCCTTCCTTCCTTTCCCCT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ATP9B_chr18_79064394_79383283	79200703	T T	TGTCAGAG others(1212): Show TGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGG AGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGG GTCAGAGCAGAGGTGGAGGTGGGAACGTTGGGGTCAGAGCAGAGGTGGAG GTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGAACGTTGGGGTCAGAGCAGAGGTGGAGGTG GGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG GACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAG CAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGG ACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGC AGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGA CTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCA GAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAAC TGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAG AGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACT GTCGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGA GGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTG TCGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAG GCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGT CGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGG TGGAGGTGGGAACTGTCGGG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	298	0.0034	1219	c.955 others(1236): Show c.955-6211_955-6210insAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGAACGTTGGGGTCAGAGCAGAGGTGGAGGT GGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGAACGTTGGGGTCAGAGCAGAGGTGGAGGTGGG GACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAG CAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGA ACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGC AGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGA CTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCA GAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGAC TGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAG AGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACT GTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGA GGCGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAACTG TCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAG GTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGT CGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGG CGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTC GGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGC GGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCG GGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTG GAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
CCDC183_chr9_136791338_136812741	136802944	G G	GGGGGCCC others(1212): Show GGGGGCCCCCCAAGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCTGGGGGCCCCCCAAGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGG GCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCT CAGGGCCCAGGGCCGGGGGCCCCCAGGGCCAGCCCTCTTGGATCTTCGGA TGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGG GGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGC CAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0085 a0002c0002t0001g0085	1	398	0.0025	1219	c.666 others(1234): Show c.666+169_666+170insAGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGG GGGCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGC TCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC TGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAAGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCA	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CHRM3_chr1_239381568_239920450	239412305	T T	TCCTCCCT others(1212): Show TCCTCCCTTCCTTCCCCCACCTCTTTCCTCCCTCCCTGTCTTCCCTTCCT CTTCCCCATTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCAT CTCTTCTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCT CCCTTCCTGCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCTC CCTCCCTTCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCTCCC TTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTG CCTCCCTCCCTTCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTGCC TCCCTCCCTTCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTC CCTTCCTCCCTCCCTTCCTCCCTTCCTGCCTCCCTCCCTTCCTGCCTCCC TCCCTCCCTTCCTGCCTCCCTCCCTTCCTGCCTCCCTTCCTGCCTCCCTC CCTCCCTCCCTCCCTTCCTGCCTCCCTCCCTCCCTTCCTGCCTCCCTCCC TTCCTGCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCTC CCTCCCTTCCTGCCTCCCTCCCTTCCTGCCTCCCTCCCTTCCTGCCTCCC TTCCTCCCTCCTTCCCTCCCTCCCTTCCTGCCTCCCTCCCTTCCTCCCTC CCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTGCC TCCCTCCCTTCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTGCCTC CCTCCCTCCCTTCCTGCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCC TGCCTCCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCTCCCTCCCTCCCTC CCTCCCTTCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTGCCTCCC TCCCTCCCTTCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTGCCTC CCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTGCCTCCC TCCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCTCCCTCCCTCCCTCCCTC CCTTCCTCCCTTCCTGCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCTCCC TTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTC CCTCCCTCCCTTCCTGCCTC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0019 a0001c0001t0021g0019	1	116	0.0086	1219	c.-52 others(1240): Show c.-521+25090_-521+25091insCCCCCACCTCTTTCCTCCCTCCCT GTCTTCCCTTCCTCTTCCCCATTCCCTTCCCTTCCCTTCCCTTCCCTCCC CTCCCCTCCCCATCTCTTCTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCC TTCCTGCCTCCCTCCCTTCCTGCCCTCCCTCCCTCCCTCCCTCCCTCCCT TCCTGCCTCCCTCCCTCCCTTCCTGCCTCCCTCCCTCCCTCCCTCCCTTC CTGCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTCCCTTCCTGCCTCCCTCCCTTCCTGCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTGCCTCCCTCCCTTCCTGCCTCCCTCCCTCCCTCCCTCCCT CCCTGCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTGCCTCCCTCC CTTCCTGCCTCCCTCCCTCCCTTCCTGCCTCCCTCCCTTCCTGCCTCCCT TCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCTCCCTCCCTTC CTGCCTCCCTCCCTTCCTGCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCT TCCTGCCTCCCTCCCTCCCTTCCTGCCTCCCTCCCTTCCTGCCTCCCTCC CTTCCTGCCTCCCTTCCTCCCTCCTTCCCTCCCTCCCTTCCTGCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTGCCTCCCTCCCTTCCTGCCTCCCTCCCTCCCTCCCTCCCT CCCTTCCTGCCTCCCTCCCTCCCTTCCTGCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCTTCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCT CCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTGCCTCCCTCCCTCCCTTCCTGCCTCCCTCCCTCCCTCCCTCCCT CCCTTCCTGCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCC CTTCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCTCCCT CCCTCCCTCCCTCCCTTCCTCCCTTCCTGCCTCCCTCCCTCCCTCCCTTC CTGCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTTCCTGCCTCCCTCCCTTCCTT	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNOT3_chr19_54132762_54160681	54133730	T T	TCCTCTCT others(1212): Show TCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCT TCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTCCCC TCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCTCCCTCCCTCTCTC CACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCCTCTCTCCCT CCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCCTCTCCACCTTC CCTGTCTCCACCTCCCCTCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTC TCCACCTCCCCTCACTCCACCTTCCCTCTCTCCACCTCCCCTCCCTCTCT TCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCCTCTCTCCACCTTCCC TGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTC TCTCCCTCCCTCTCCACTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCC CTGTCTCCACCTCCCCTCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCT CCACCTCCCCTCACTCCACCTTCCCTCTCTCCACCTCCCCTCCCTCTCTT CCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTG TCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTC TCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTT CCCTCTCTCCACCTCCCCTCCCTCTCTTCCTCCCTCTCCACCTCCCCTCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCTCTCTCCACCTCC CCTCTCTCTCTTCCTCCCTCTCACCTCCCCTCTCTCTCCCTCCCTCTCTC CACCTTCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTC CCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCC TCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCT CTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCT CCCTCCCTCTCTCCACCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	223	0.0045	1219	c.-43 others(1230): Show c.-4314_-4313insCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCTCCCTCCTTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTC CACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCCCTCCC TCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTC CTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTC CCCTCCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCT CTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCT CCCCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTCTCCCTCCCTC TCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTTCCCTCTCTCCAC CTCCCCTCCCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCC TCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTC TCCACCTCCCCTCTCTCTCCCTCCCTCTCCACTCCCCTCTCTCTCCCTCC CTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTCTCCCTCCCTCT CCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTTCCCTCTCTCCACC TCCCCTCCCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTC TCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTC CACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCACCTC CCCTCACTCCACCTTCCCTCTCTCCACCTCCCCTCCCTCTCTTCCTCCCT CTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCT CCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCACCTCCCCTCTCT CTCCCTCCCTCTCTCCACCTTCCCTCTCTCTCTCCCTCCCTCTCTCCACC TCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCC TCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTC TCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCC ACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		4031		chr19	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(1212): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGG AGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGGAGGGAGG AGGAGGAGAGGGAGGAGGAGGAGGAGAGGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGAGGAGGGA GGAGGAGGGGGGAGGAGGAGGGGGGAGGAGGAGGGGGGAGGAGGAGGGGG GGAGGAGGAGGGGGGAGGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGG AGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGGGAGGAGGAGGGGGAGGAG GAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGAGGGAGGAGGGGGAGGAGG GGGGAGGAGGAGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGAGG AGGGGGAGGAGGGAGGAGGGAGGAGGGGGGAGGAGGGAGGAGGGGGGGAG GGAGGAGGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGGAGG AGGAGGGAGGAGGAGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGAGGAGGGAGGAGGA GGAGGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGA GGGAGGAGGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGA GGGAGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGG AGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGGAGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAG GGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGGAGGAGGAGGAG GAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAAGGAGGAGGGAGGAAGGAG GAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGAAGGAGGAGGAGGAGGG AGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGGGGAGGA GGAGGGAGGAGGAGGAGGAGGAGGGAGGGAGGAGGAGGAGGAGGGGGGAG GAGGAGTAGGAGGAGGAGGAGGAGGGAGGAGGAGGTGGAGGAGAGGAGGA GGAGGAGGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0131 a0001c0131	a0001c0131t0001 a0001c0131t0001	a0001c0131t0001g0041 a0001c0131t0001g0041	1	252	0.0040	1219	c.118 others(1238): Show c.11806-562_11806-561insCTCCTCCTCCTCCCTCCTCCTCCTCC TCTCCTCCACCTCCTCCTCCCTCCTCCTCCTCCTCCTACTCCTCCTCCCC CCTCCTCCTCCTCCTCCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCC CCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCC TCCTCCTCCTTCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTT CCTCCCTCCTCCTTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTC CTCCTCCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTC CTCCTCCCCTCCTCCTCCTCCTCCTCTCCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCC TCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCTCCCTCCCTC CTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCCTCCTCCCTCCTCC CTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCCCTCCTCCTCC TCCCTCCTCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCCTCCTCCTCCTCCTCTCCTCCTCCCTCCTCCTCCC CTCCTCCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCTCCCC CCCTCCTCCCTCCTCCCCCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCT CCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCCTCCT CCCCCTCCTCCCTCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCTC CCCCTCCTCCTCCCCTCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCC TCCTCCCCCTCCTCCTCCCCCTCCTCCCTCCCCCCTCCTCCTCCCCCCCT CCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCTC CTCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCCTCTCCTCCTCCTCCTCCCTCTCCTCCTCCTCCC TCCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCT CCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1212): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGGCAGTTAGAGACCTGGCTGC CTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGG GGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCAC ACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTG CCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGC TTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCA GGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCT GCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTC CACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCG GCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCT GGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTG TGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTC CACATGCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0117 a0001c0028t0001g0117	1	316	0.0032	1219	c.49 others(1230): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC CTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGG TAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTC CCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTG CCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCG CCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGA CAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTG GCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGT CGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCC TCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGA GAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCG CTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGGCAGT TAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTC TGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGC CCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCC TCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGC CATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTG TTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAAT GAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGG CCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAA CTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGG TCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTT TGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAG CTCCCCCTTCCCGTCCACATGCCCCCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1212): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0214 a0003c0004t0001g0214	1	316	0.0032	1219	c.49 others(1230): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC TCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGT AACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCC CGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGC CTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGC CCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGAC AGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGG CTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTC GGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCT CCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAG AGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGC TGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTA GAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTG GGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCC TTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTC GGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCA TGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTT GCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGA GGGGTGACAGCCTGCCTGGGGGGGTACACAGCCTGGGCTTTTTCCAGGGC CCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAAC TATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGT CAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTT GTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGC TCCCCCTTCCCGTCCACATGCCCCCCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1212): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 NA19043.hp2 HG02602.hp2 NA19043.hp2	a0002 a0005 a0002 a0005	a0002c0015 a0005c0130 a0002c0015 a0005c0130	a0002c0015t0002 a0005c0130t0001 a0002c0015t0002 a0005c0130t0001	a0002c0015t0002g0046 a0005c0130t0001g0215 a0002c0015t0002g0046 a0005c0130t0001g0215	2	316	0.0063	1219	c.49 others(1230): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC TCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGT AACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCC CGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGC CTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGC CCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGAC AGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGG CTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTC GGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCT CCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAG AGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGC TGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTA GAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTG GGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCC TTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTC GGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCA TGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTT GCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGA GGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCC CCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACT ATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTC AGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTG TTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCT CCCCCTTCCCGTCCACATGCCCCCCCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
DNAH2_chr17_7712744_7838742	7838437	G G	GCGCCGGG others(1212): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0256 a0001c0009t0003g0256	1	316	0.0032	1219	c.49 others(1230): Show c.4904_*4905insCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACC GTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCC TCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGT AACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCC CGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGC CTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGC CCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGAC AGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGG CTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTC GGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCT CCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAG AGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGC TGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTA GAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTG GGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCC TTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTC GGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCA TGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTT GCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGA GGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCC CCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACT ATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTC AGGGGTCTGGCCTGGGCAGTTTGGAGCTGGTACTTCAGCTTCCCCTTTTG TTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCT CCCCCTTCCCGTCCACATGCCCCCCCCCCCCCCCC	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding		4696		chr17	TogoVar
EFCAB5_chr17_29936634_30113452	30071290	T T	TTATGTAG others(1212): Show TTATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAAT CAATTCAAGATGGATTAAAGATTTAAACGTTAAACCTAAAACCATAAAAA CCCTAGAAGAAAACCTAGGCATGACCATTCAGGACATAGGCGTGGGCAAG GACTTCATGTCCAAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGA CAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTA CCATCAGAGTGAACAGGCAACCTACAACATGGGAGAAAATTTTTGCAACC TACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACA AATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACA TGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATG AAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCAC TATGAGATATCATCTCACACCATTTAGAATGGCAATCATTAAAAAGTCAG GAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACAC TGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCG ATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAACCATCCCAT TACTGGGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACA TGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAA CCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACA TATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCC TTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATC ACAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATT GAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGA CTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCT AATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTA TACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGA GTATAATAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	248	0.0040	1219	c.273 others(1238): Show c.2738-6925_2738-6924insTATGTAGAAAGCTGAAACTGGATCCC TTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAA CGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATGACCA TTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCA ATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAACTAAAGAG CTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAA CATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCC AGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCC CATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACA TTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATC AGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCATTTAG AATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCG GAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAA CCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAAT ACCATTTGACCCAACCATCCCATTACTGGGTATATACCCAAATGAGTATA AATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTA TTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGA CTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCA TAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAA ACCATCATTCTCAGTAAACTATCACAAGAACAAAAAACCAAACACCGCAT ATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGA AGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAG GGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGC AGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGT GCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAA	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	14/22			chr17	TogoVar
EFCAB5_chr17_29936634_30113452	30071290	T T	TTATGTAG others(1212): Show TTATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAAT CAATTCAAGATGGATTAAAGATTTAAACGTTAAACCTAAAACCATAAAAA CCCTAGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCGTGGGCAAG GACTTCATGTCCAAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGA CAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAACAAAAGAAACTA CCATCAGAGTGAACAGGCAACCTACAACATGGGAGAAAATTTTTGCAACC TACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACA AATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACA TGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATG AAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCAC TATGAGATATCATCTCACACCATTTAGAATGGCAATCATTAAAAAGTCAG GAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACAC TGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCG ATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAACCATCCCAT TACTGGGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACA TGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAA CCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACA TATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCC TTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATC ACAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATT GAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGA CTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCT AATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTA TACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGA GTATAATAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	248	0.0040	1219	c.273 others(1238): Show c.2738-6925_2738-6924insTATGTAGAAAGCTGAAACTGGATCCC TTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAA CGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCA TTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCA ATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAACTAAAGAG CTTCTGCACAACAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAA CATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCC AGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCC CATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACA TTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATC AGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCATTTAG AATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCG GAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAA CCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAAT ACCATTTGACCCAACCATCCCATTACTGGGTATATACCCAAATGAGTATA AATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTA TTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGA CTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCA TAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAA ACCATCATTCTCAGTAAACTATCACAAGAACAAAAAACCAAACACCGCAT ATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGA AGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAG GGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGC AGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGT GCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAA	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	14/22			chr17	TogoVar
EFCAB5_chr17_29936634_30113452	30071290	T T	TTATGTAG others(1212): Show TTATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAAT CAATTCAAGATGGATTAAAGATTTAAACGTTAAACCTAAAACCATAAAAA CCCTAGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCGTGGGCAAG GACTTCATGTCCAAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGA CAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTA CCATCAGAGTGAACAGGCAACCTACAACATGGGAGAAAATTTTTGCAACC TACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACA AATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACA TGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATG AAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCAC TATGAGATATCATCTCACACCATTTAGAATGGCAATCATTAAAAAGTCAG GAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACAC TGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCG ATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAACCATCCCAT TACTGGGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACA TGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAA CCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACA TATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCC TTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATC ACAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATT GAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGA CTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCT AATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTA TACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGA GTATAATAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02630.hp2 HG02723.hp1 others(11): Show HG00408.hp1 HG02630.hp2 HG02723.hp1 HG02809.hp2 HG02896.hp2 HG03041.hp1 HG03139.hp1 HG03195.hp2 HG03516.hp2 HG03579.hp1 HG04115.hp2 NA18951.hp1 NA19000.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0001 a0001c0024t0004 a0001c0001t0001 a0001c0024t0004	a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0150 others(11): Show a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0150 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0211 a0001c0001t0001g0233 a0001c0024t0004g0159	14	248	0.0565	1219	c.273 others(1238): Show c.2738-6925_2738-6924insTATGTAGAAAGCTGAAACTGGATCCC TTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGATTTAAA CGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATTACCA TTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCA ATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAACTAAAGAG CTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAA CATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCC AGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCC CATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAGACA TTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCATC AGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCATTTAG AATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCG GAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAA CCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAAT ACCATTTGACCCAACCATCCCATTACTGGGTATATACCCAAATGAGTATA AATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTA TTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGA CTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCA TAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAA ACCATCATTCTCAGTAAACTATCACAAGAACAAAAAACCAAACACCGCAT ATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGA AGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAG GGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGC AGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGT GCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAA	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	14/22			chr17	TogoVar
FMN2_chr1_240086883_240480187	240185033	C C	CCCCCTTC others(1212): Show CCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCC TATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTTCCCCTTCTCTTTC TCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTT CTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTT CCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCT ATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTC CCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCT CTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCC CCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCTCTTTCTCCCTCCTAT ACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCC TCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCT TTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCC CTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATAC CTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTC CTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTT CTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCT TCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACC TTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTC CTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTT TCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCT TCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACC TTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCC TATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCTCTTTCT CCCTCCTATACCTGCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCT CTTTCTCCCTCCTATACCTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0125 a0002c0008t0003g0125	1	174	0.0058	1219	c.193 others(1238): Show c.1931-3142_1931-3141insCTTCTCTTTCTCCCTCCTATACCTTC CCCTTCTCTTTCTCCCTCCTATACCTTTCCCCTTCTCTTTCTCCCTCCTA TACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTC CCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCT CTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATA CCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCC TCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCT TTCTCCCTCCTATACCTGCCCCTTCTCTTTCTCCCTCCTATACCTTCCCC TTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACC TTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTC CTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTT CTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTT CTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTT CCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCT ATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCT CCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTC TCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTT CCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCC TATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCT CCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTC TCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTC CCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCTCTTTCTCCCTCCTAT ACCTGCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCC TCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCC	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
GLOD4_chr17_754330_787280	768703	A A	AAGAAATC others(1212): Show AAGAAATCTGGAGAGGACGTGAGAGAGAGAAACGGCGCACACTCAGATTT TTAGAAGAAGAAATCTGGAGAGGATGTGTGAGAGAGAAACAGCGCGCACT CAGATTTTTAGAAGAAATCTGGAGAGGATGTGAGAGAGAGAAACAGGGCG CACTCAGATTTTTAGAAGAAGAAATCTGAAGAGGACGTGAGAGAGAGAAA CAGCGCGCGCTCAGATTTTTAGAAGAAGAAATCTGGAGAGGACGTAAGAG AGAGAAACAGCGCGCGCTCAGATTTTTAGAAGAAATCTGGAGAGGACATG AGAGGGAGAAACAGCGCGCACTCAGATTTTTAGAAGAAATCTGGAGAGGA CGTGAGAGAGAGAAACAGCGCGCACTCAGATTTTTAGAAGAAATCTGGAG AGGACGTGAGAGAGAGAAACAGCGCGCACTCAGATTTTTAGAAGAAGAAG TCTGGAGAGGACGTGAGAGAGAGAAACAGCGCGCACTCAGATTTTTAGAA GAAGAAATCTGGAGAGGACGTGAGAGGGAGAAACAGCGCGCACTCAGATT TTTAGAGGAAGAAATCTGGAGAGGACGTGAGAGAGAAACAGCGCGCACTC AGATTTTTAGAAGAAATCTGGAGAGGACGTGAGAGAGAGAAACAGCGCAC ACTCAGATTTTTAGAAGAAATCTGGAGAGGACGTGAGAGAGAGAAACAGC GCGCACTCAGATTTTTAGAAGGAGAAATCTGGAGAGGACGTGAGAGAGAG AAACAGTGCGCACTCAGATTTTTAGAAGGAGAAATCTGGAGAGGACGTGA GAGAGAGAAACAGCGCACACTCAGATTTTTAGAAGAAATCTGGAGAGGAT GTGAGAGAGAGAAACAGCGCGCACTCAGATTTTTAGAAGAAGAAATCTGG AGAGGACGTGAGAGAGAGAAACAGCGCGCACTCAGATTTTTAGAAGAAAT CTGGAGAGGATGTGAGAGAGAGAAACAGCGCACACTCAGATTTTTAGAAG AAATCTGGAGAGGACGTGAGAGAGAGAAACAGCGCGCACTCAGATTTTTA GAAGAAATCTGGAGAGGACGTGAGAGAGAGAAACAGCGCACACTCAGATT TTTAGAAGAAATCTGGAGAGGACGTGAGAGAGAGAAACAGCGCGCACTCA GATTTTTAGAAGAAGAAATCTGGAGAGGATGTGAGAGAGAGAAACAGTGC GCACTCAGATTTTTAGAAGG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	420	0.0024	1219	c.831 others(1236): Show c.831+1165_831+1166insCCTTCTAAAAATCTGAGTGCGCACTGTT TCTCTCTCTCACATCCTCTCCAGATTTCTTCTTCTAAAAATCTGAGTGCG CGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTTCTTCTAAAAATCTGAG TGTGCGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTTCTTCTAAAAATC TGAGTGCGCGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTTCTTCTAAA AATCTGAGTGTGCGCTGTTTCTCTCTCTCACATCCTCTCCAGATTTCTTC TAAAAATCTGAGTGCGCGCTGTTTCTCTCTCTCACGTCCTCTCCAGATTT CTTCTTCTAAAAATCTGAGTGCGCGCTGTTTCTCTCTCTCACATCCTCTC CAGATTTCTTCTAAAAATCTGAGTGTGCGCTGTTTCTCTCTCTCACGTCC TCTCCAGATTTCTCCTTCTAAAAATCTGAGTGCGCACTGTTTCTCTCTCT CACGTCCTCTCCAGATTTCTCCTTCTAAAAATCTGAGTGCGCGCTGTTTC TCTCTCTCACGTCCTCTCCAGATTTCTTCTAAAAATCTGAGTGTGCGCTG TTTCTCTCTCTCACGTCCTCTCCAGATTTCTTCTAAAAATCTGAGTGCGC GCTGTTTCTCTCTCACGTCCTCTCCAGATTTCTTCCTCTAAAAATCTGAG TGCGCGCTGTTTCTCCCTCTCACGTCCTCTCCAGATTTCTTCTTCTAAAA ATCTGAGTGCGCGCTGTTTCTCTCTCTCACGTCCTCTCCAGACTTCTTCT TCTAAAAATCTGAGTGCGCGCTGTTTCTCTCTCTCACGTCCTCTCCAGAT TTCTTCTAAAAATCTGAGTGCGCGCTGTTTCTCTCTCTCACGTCCTCTCC AGATTTCTTCTAAAAATCTGAGTGCGCGCTGTTTCTCCCTCTCATGTCCT CTCCAGATTTCTTCTAAAAATCTGAGCGCGCGCTGTTTCTCTCTCTTACG TCCTCTCCAGATTTCTTCTTCTAAAAATCTGAGCGCGCGCTGTTTCTCTC TCTCACGTCCTCTTCAGATTTCTTCTTCTAAAAATCTGAGTGCGCCCTGT TTCTCTCTCTCACATCCTCTCCAGATTTCTTCTAAAAATCTGAGTGCGCG CTGTTTCTCTCTCACACATCCTCTCCAGATTTCTTCTTCTAAAAATCTGA GTGTGCGCCGTTTCTCTCTCTCACGTCCTCTCCAGATTTCT	GLOD4	ENSG00000167699.14	transcript	ENST00000301329.11	protein_coding	8/8			chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1212): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCC TCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGG GGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACA CAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGC CACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCT TGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAG GTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTG CCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCC ACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGG CCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTG GGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGT GCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCC ACATGCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0005 a0005	a0005c0049 a0005c0049	a0005c0049t0001 a0005c0049t0001	a0005c0049t0001g0274 a0005c0049t0001g0274	1	388	0.0026	1219	c.-38 others(1238): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCCTGCTGCT TCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACC CAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCA CACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCC GGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGG CTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCT CGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCT CTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTG GGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTT CCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGG GTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTC TGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGG GGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCA CATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGG CAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGG ACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCG GCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTG AGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGG TGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTT CCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAG TCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTC TGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTC CCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCA GCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1212): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCCTCCCTACCCGGACT CCGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGC TCGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTT TCCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGC CTTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCC GGCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCT AGGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGC TCTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGT CCCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCC CCCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTA GGGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCT GTGAGTGTGTGTAGGGTGGGGGTGGGGGGGGCAGTTAGAGACCTGGCTGC CTCTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGG GGGAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCAC ACAATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTG CCACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGC TTGGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCA GGTCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCT GCCTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTC CACCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCG GCCACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCT GGGCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTG TGCACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTC CACATGCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0005 a0005	a0005c0061 a0005c0061	a0005c0061t0002 a0005c0061t0002	a0005c0061t0002g0163 a0005c0061t0002g0163	1	388	0.0026	1219	c.-38 others(1238): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACC CAGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCA CACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCC GGCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGG CTTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCT CGCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCT CTGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTG GGGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTT CCCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGG GTGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTC TGGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGG GGGCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTC ACATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGG GCAGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGG GACAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCC GGCAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCT GAGTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAG GTGCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTT TCCAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGA GTCCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGT CTGCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTT CCCCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCC AGCCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
KDM6B_chr17_7829217_7859796	7838437	G G	GCGCCGGG others(1212): Show GCGCCGGGGCAGGCCCAGGAGGCAGAGGAGGGACCGTCTCCCCCGCCCCC CCAGCCCCCACTCCCCCCCCTGCTGCTTCCCCCCCTCCCTACCCGGACTC CGGGGGCACCGCCGGGGGACAGACACCCAGCAGGTAACCCCGGCCTGGCT CGCCCTCCCCTCTCTGATTTTCCTCCACACCTTCCCGGATGACCCCTTTT CCCCTTTCCGTCTCCCCGTTTCTCCCCGGCCTTGCCTCTTTTCCCTGGCC TTCCTTGTTCCATCGCCCCCACTTGGGCTTATCGCCCGCTGGCCGCGCCG GCGTCTCGTGCAGCCTGATTCCCTTCTCGCCCGACAGCCTGTGCGCCCTA GGTCTGCCCAGGGCACCTTTTGGGGCTCTGTCTGGCTGCTGCTTTGGGCT CTTGCTTCCCTTCCGACCTGTCCCCTGGGGCTGTCGGGGAGGAGGGAGTC CCTGCCTTTTCTTGCTCCCCCCCAGTTCCCCGCCTCCCCAACTCTGGCCC CCTTTCTCCTTCTAGCAGTCTCTAGGGGTGGGGAGAGAACCGGAATTTAG GGGGCCCCCTGGAGGGGCAAGGGGCTCTGGGTCGCTGGGGAAAGGGTCTG TGAGTGTGTGTAGGGTGGGGGTGGGGGGGCAGTTAGAGACCTGGCTGCCT CTCCGTTGTCCCTTTAAATGGCCCTCACATTTCTGGGGACTCATGGGGGG GAGGTGGCAAGCCGCCTGCCTGGGGGGCAGGGCCCTTGGTTCGTCCACAC AATCAGGGGTGGTAATGATTTAAAGGGACAGCCTCGGTGTGGCCGCTGCC ACCCTGCGCCGGCGGGAGGGGGAGCCGGCAGGCCATGTCTGGGGAGGCTT GGCTGGTGAGCAGGGCATTTGAGGCTGAGTCTGTTGCTGGGCCTGCCAGG TCTGGGACAGTGCTGCGGCTGGGAAGGTGCAATGAGGGGTGACAGCCTGC CTGGGGGGTACACAGCCTGGGCTTTTTCCAGGGCCCCACCTTTGGGTCCA CCGACTCCTTGGCCAAGAATCCTTGAGTCCAAACTATGGAGTCTGTCGGC CACCAGGTGAGGGGCCACCGGCTGGTCTGCAGGTCAGGGGTCTGGCCTGG GCAGTTTGGAGCTGGCACTTCAGCTTCCCCTTTTGTTGTTTGGCTCTGTG CACAAGAAAGCCCCAGCCCCTCCCCCAGCCCAGCTCCCCCTTCCCGTCCA CATGCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA19043.hp1 HG02602.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0002 a0001c0016t0011 a0001c0001t0002 a0001c0016t0011	a0001c0001t0002g0136 a0001c0016t0011g0187 a0001c0001t0002g0136 a0001c0016t0011g0187	2	388	0.0052	1219	c.-38 others(1238): Show c.-387-1468_-387-1467insGCCGGGGCAGGCCCAGGAGGCAGAGG AGGGACCGTCTCCCCCGCCCCCCCAGCCCCCACTCCCCCCCCTGCTGCTT CCCCCCCTCCCTACCCGGACTCCGGGGGCACCGCCGGGGGACAGACACCC AGCAGGTAACCCCGGCCTGGCTCGCCCTCCCCTCTCTGATTTTCCTCCAC ACCTTCCCGGATGACCCCTTTTCCCCTTTCCGTCTCCCCGTTTCTCCCCG GCCTTGCCTCTTTTCCCTGGCCTTCCTTGTTCCATCGCCCCCACTTGGGC TTATCGCCCGCTGGCCGCGCCGGCGTCTCGTGCAGCCTGATTCCCTTCTC GCCCGACAGCCTGTGCGCCCTAGGTCTGCCCAGGGCACCTTTTGGGGCTC TGTCTGGCTGCTGCTTTGGGCTCTTGCTTCCCTTCCGACCTGTCCCCTGG GGCTGTCGGGGAGGAGGGAGTCCCTGCCTTTTCTTGCTCCCCCCCAGTTC CCCGCCTCCCCAACTCTGGCCCCCTTTCTCCTTCTAGCAGTCTCTAGGGG TGGGGAGAGAACCGGAATTTAGGGGGCCCCCTGGAGGGGCAAGGGGCTCT GGGTCGCTGGGGAAAGGGTCTGTGAGTGTGTGTAGGGTGGGGGTGGGGGG GCAGTTAGAGACCTGGCTGCCTCTCCGTTGTCCCTTTAAATGGCCCTCAC ATTTCTGGGGACTCATGGGGGGGAGGTGGCAAGCCGCCTGCCTGGGGGGC AGGGCCCTTGGTTCGTCCACACAATCAGGGGTGGTAATGATTTAAAGGGA CAGCCTCGGTGTGGCCGCTGCCACCCTGCGCCGGCGGGAGGGGGAGCCGG CAGGCCATGTCTGGGGAGGCTTGGCTGGTGAGCAGGGCATTTGAGGCTGA GTCTGTTGCTGGGCCTGCCAGGTCTGGGACAGTGCTGCGGCTGGGAAGGT GCAATGAGGGGTGACAGCCTGCCTGGGGGGTACACAGCCTGGGCTTTTTC CAGGGCCCCACCTTTGGGTCCACCGACTCCTTGGCCAAGAATCCTTGAGT CCAAACTATGGAGTCTGTCGGCCACCAGGTGAGGGGCCACCGGCTGGTCT GCAGGTCAGGGGTCTGGCCTGGGCAGTTTGGAGCTGGCACTTCAGCTTCC CCTTTTGTTGTTTGGCTCTGTGCACAAGAAAGCCCCAGCCCCTCCCCCAG CCCAGCTCCCCCTTCCCGTCCACATGCCCCCCCCCCCCCCCCC	KDM6B	ENSG00000132510.11	transcript	ENST00000448097.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
MEGF6_chr1_3482951_3616508	3502057	T T	TCACATGG others(1212): Show TCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCACCTCCTCACATGGGCT CCTGGCGAGTGTGCCCCCCGTGCCTCACATAGGCTCCTGGCGAGTGTGCC CCCCACGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCACCTC CTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCACATGGGCTCC TGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCC CCACGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCACCTCCT CACATGGGCTCCTGGCGAGTGTGCCCCCCCGCACCTCCTCACATGGGCTC CTGGCGAGTGTGCCCCCCGTGCCTCACATAGGCTCCTGGCGAGTGTGCCC CCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCACCTC CTCACATGGGCTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCT GGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCC CCGCACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCAC ATGGGCTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGA GTGTGCCCCCCCGCACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCC GTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGC TCCTGGCGAGTGTGCCCCCCCGCACCTCCTCACATGGGCTCCTGGCGAGT GTGCCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGTGCC TCACATGGGCTCCTGGCGAGTGTGCCCCCCCGCACCTCCTCACATGGGCT CCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCC CCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGTGCCTCACA TGGGCTCCTGGCGAGTGTGCCCCCCACGCCTCCTCACATGGGCTCCTGGC GAGTGTGCCCCCCCGCACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCC CCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACGCCTCCTC ACATGGGCTCCTGGCGAGTGTGCCCCCCCGCACCTCCTCACATGGGCTCC TGGCGAGTGTGCCCCCCGTG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0070 a0070	a0070c0090 a0070c0090	a0070c0090t0023 a0070c0090t0023	a0070c0090t0023g0264 a0070c0090t0023g0264	1	292	0.0034	1219	c.218 others(1236): Show c.2189-137_2189-136insCACGGGGGGCACACTCGCCAGGAGCCCA TGTGAGGAGGTGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGC GTGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGCACA CTCGCCAGGAGCCCATGTGAGGAGGTGCGGGGGGGCACACTCGCCAGGAG CCCATGTGAGGAGGCGTGGGGGGCACACTCGCCAGGAGCCCATGTGAGGC ACGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACACT CGCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCATG TGAGGAGGTGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGCACGGG GGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACACTCGCCA GGAGCCCATGTGAGGAGGTGCGGGGGGGCACACTCGCCAGGAGCCCATGT GAGGCACGGGGGGCACACTCGCCAGGAGCCCATGTGAGGCACGGGGGGCA CACTCGCCAGGAGCCCATGTGAGGAGGTGCGGGGGGGCACACTCGCCAGG AGCCCATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAG GCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGCGGGGGGGCAC ACTCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCC ATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGCG GGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGGGGCACAC TCGCCAGGAGCCTATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCAT GTGAGGAGGTGCGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTG CGGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGTGGGGGGCACA CTCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCA TGTGAGGAGGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGCG GGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGTGGGGGGCACACT CGCCAGGAGCCTATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCATG TGAGGAGGTGCGGGGGGGCACACTCGCCAGGAGCCCATGTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
MSR1_chr8_16102881_16197651	16189577	A A	ATATTTTA others(1212): Show ATATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATT TGATATATATTTTTTATATATTTTATATATATATAAAATCTTATTTTATA TATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATAT ATAAAATCTTATTTTATATATATTTTATATATATTTTATATATATATAAA ATCTTACTTTATATTTTATATATATGAAATCTTACTTTATATATATTTTA TATATATATAAAATCTTACTTTATATATATTTTATATATATAAAATCTTA CTTTATATATATTTTATATATATAAAATCTTATTTTATATATATAAAATC TTATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATATA AAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTATAT ATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATATA AAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTATAT ATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTAT ATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATA TATAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTT ATATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATA TATATAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATT TTATATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATA TATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTA TTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATTTTA TATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATCT TATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATTT TATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAAT CTTATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATAT TTTATATATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0299 a0002c0002t0003g0299	1	330	0.0030	1219	c.-5+ others(1234): Show c.-5+3020_-5+3021insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTATATA TATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATATAT AAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTATA TATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATAT ATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTA TATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATAT ATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTT TATATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAAT ATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGAT TTTATATATATATAAAATATATATAAAATAAGATTTTATATATATATAAA ATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAG ATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATATA AAATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATA AGATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATA TAAAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATA AGATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATA TAAAATATATATAAAATAAGATTTTATATATATAAAATAAGATTTTATAT ATATAAAATAAGATTTTATATATATAAAATATATATAAAGTAAGATTTTA TATATATAAAATATATATAAAGTAAGATTTTATATATATATAAAATATAT ATAAAGTAAGATTTCATATATATAAAATATAAAGTAAGATTTTATATATA TATAAAATATATATAAAATATATATAAAATAAGATTTTATATATATATAA AATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAA GATTTTATATATATATAAAATATATAAAAAATATATATCAAATATATATA AAATAAGATTTTATATATATATAAAATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSR1_chr8_16102881_16197651	16189577	A A	ATATTTTA others(1212): Show ATATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATT TGATATATATTTTTTATATATTTTATATATATATAAAATCTTATTTTATA TATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATAT TTTATATATATATAAAATCTTACTTTATATTTTATATATATGAAATCTTA CTTTATATATATTTTATATATATATAAAATCTTACTTTATATATATTTTA TATATATAAAATCTTACTTTATATATATTTTATATATATAAAATCTTATT TTATATATATAAAATCTTATTTTATATATATAAAATCTTATTTTATATAT ATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATATATA AAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATAT ATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATATATA AAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTATAT ATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTTAT ATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATA TATAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATTTT ATATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATA TATATAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTATT TTATATATATTTTATATATATATAAAATCTTATTTTATATATATTTTATA TATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATCTTA TTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATTTTA TATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATCT TATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATATTT TATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAAT CTTATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATAT TTTATATATATATAAAATCT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0135 a0002c0002t0004g0135	1	330	0.0030	1219	c.-5+ others(1234): Show c.-5+3020_-5+3021insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTATATA TATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATATAT AAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTATA TATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATATAT ATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTTTA TATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATAT ATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGATTT TATATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAAT ATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAGAT TTTATATATATATAAAATATATATAAAATAAGATTTTATATATATATAAA ATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAG ATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATATA AAATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATA AGATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATA TAAAATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAA TAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATA TAAAATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAA TAAGATTTTATATATATAAAATAAGATTTTATATATATAAAATAAGATTT TATATATATAAAATATATATAAAGTAAGATTTTATATATATAAAATATAT ATAAAGTAAGATTTTATATATATATAAAATATATATAAAGTAAGATTTCA TATATATAAAATATAAAGTAAGATTTTATATATATATAAAATATATATAA AATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAA GATTTTATATATATATAAAATATATAAAAAATATATATCAAATATATATA AAATAAGATTTTATATATATATAAAATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
OLFM1_chr9_135082668_135126180	135096118	C C	CTCCTTCT others(1212): Show CTCCTTCTTCCCCTCCCTCCTCTCCTCCTCCTCTTCCTCCTCCTTCCCCT CCCTCCTCTCCTCCTCTTCCTCCTCCTCCTTCCCCTCCTTCCTCTCCTCC TCCTCCTCTCCCTCTCCCCTCCCTCCCCTCCTCCTCTTCCCCTCCTCTTC CTCCTCTCCTTCCCCTCCTTCCCCTCCTTCCTCTCCTCCTCCTCCCCCCT CCCCTCCCTCCTCTCCTTCTCCTTCCCCTCCCTCCTCTTCCCCTCCTCTT CCTCCTCCTCCTTCCCCTCCTTCTCCTCCTCCTCCTTCCCCCTCCCTTCC CTTCTTTCCTCCTTCTCCTTCTCCTTCCCTGCCCTCCTCTCCACCTCCCT CTCTTCTTCCTCCTTCTCCTCTCCCCCTCCATCTCCCTTCTCCCCCTCCT CCTCTCCCCCTCCCCCTCTCCTCCTCCTCTCCCCCTCCCCCTCTCCTCCT CCTCTCCCCCTCCCCCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCCCCC TCTCCTCCTCCTCTCCCCCTCCCTCTCTCCTCCTTCTGCTCCTCCTTCTC CTCCTCCTTCCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCCCTATT TTCTCCCTTTCTCCTCCCCCTTCCTTCCTTCTCCGGCTCCTCCTCCTGTT CTTCCCCTTCCTCCTCCTCCCCCTCCCTCTCCTCCCCTCTCCTCTTCCCC CTTGCCCCTTTGCCTCCCCTTTCCTCTCTCTCCTCTTCCTCCCTTTTCTC TTCCTCATCCCCCTCCCCCTCCTCCTTTCTCTTCCTCCCCCTTACCTTCC TCCTCCTCTCCCTTCTCTTCCTTGTCCTCCCCCTCCTCTTCCCCCTCTCC CCTCCTCCTCATTCCTCCCCCACCTTGTCTTCTTCCCCTTTCTCCTCCTC ATCGCCCCTCCTTCCTCCTCCCCCTTCCTCTTCCTCCTTCCTTCCCCCTC TCCTCTTCCTCCCCCCTCCTCCTCCCCTCTTCATCCTCCTCTTCCTCCTC CCTCTCCTCCTTCTCCTCCTCTTCCTCCTCCCCCTCTTCATCCTCCTCTT CCTCCCCCTCTTCATCCTCCTCTTCCTCCTCCCCCTCTTCATCCTCCTCT TCCTCCCCCTCTTCATCCTCCTCTTCCTCCTCCCTCTCCTTCATCCTCTT CTTCCTCCTCCCTTCTCCTCCTCTTCCTCCTCCTCCCCATCTTCATCCTC CTCTTCCTCCTCCCTCTCCT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02300.hp1 HG01975.hp2 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0276 a0001c0002t0002g0277	2	360	0.0056	1219	c.456 others(1234): Show c.456+101_456+102insCTTCTTCCCCTCCCTCCTCTCCTCCTCCTC TTCCTCCTCCTTCCCCTCCCTCCTCTCCTCCTCTTCCTCCTCCTCCTTCC CCTCCTTCCTCTCCTCCTCCTCCTCTCCCTCTCCCCTCCCTCCCCTCCTC CTCTTCCCCTCCTCTTCCTCCTCTCCTTCCCCTCCTTCCCCTCCTTCCTC TCCTCCTCCTCCCCCCTCCCCTCCCTCCTCTCCTTCTCCTTCCCCTCCCT CCTCTTCCCCTCCTCTTCCTCCTCCTCCTTCCCCTCCTTCTCCTCCTCCT CCTTCCCCCTCCCTTCCCTTCTTTCCTCCTTCTCCTTCTCCTTCCCTGCC CTCCTCTCCACCTCCCTCTCTTCTTCCTCCTTCTCCTCTCCCCCTCCATC TCCCTTCTCCCCCTCCTCCTCTCCCCCTCCCCCTCTCCTCCTCCTCTCCC CCTCCCCCTCTCCTCCTCCTCTCCCCCTCCCCCTCCTCTCCCCCTCCCCC TCCTCTCCCCCTCCCCCTCTCCTCCTCCTCTCCCCCTCCCTCTCTCCTCC TTCTGCTCCTCCTTCTCCTCCTCCTTCCCTCCCCCCTCCTCCTCCTCCTC CTCCCCCCTCCCCTATTTTCTCCCTTTCTCCTCCCCCTTCCTTCCTTCTC CGGCTCCTCCTCCTGTTCTTCCCCTTCCTCCTCCTCCCCCTCCCTCTCCT CCCCTCTCCTCTTCCCCCTTGCCCCTTTGCCTCCCCTTTCCTCTCTCTCC TCTTCCTCCCTTTTCTCTTCCTCATCCCCCTCCCCCTCCTCCTTTCTCTT CCTCCCCCTTACCTTCCTCCTCCTCTCCCTTCTCTTCCTTGTCCTCCCCC TCCTCTTCCCCCTCTCCCCTCCTCCTCATTCCTCCCCCACCTTGTCTTCT TCCCCTTTCTCCTCCTCATCGCCCCTCCTTCCTCCTCCCCCTTCCTCTTC CTCCTTCCTTCCCCCTCTCCTCTTCCTCCCCCCTCCTCCTCCCCTCTTCA TCCTCCTCTTCCTCCTCCCTCTCCTCCTTCTCCTCCTCTTCCTCCTCCCC CTCTTCATCCTCCTCTTCCTCCCCCTCTTCATCCTCCTCTTCCTCCTCCC CCTCTTCATCCTCCTCTTCCTCCCCCTCTTCATCCTCCTCTTCCTCCTCC CTCTCCTTCATCCTCTTCTTCCTCCTCCCTTCTCCTCCTCTTCCTCCTCC TCCCCATCTTCATCCTCCTCTTCCTCCTCCCTCTCCTTC	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLEKHG4B_chr5_87168_194966	101922	C C	CCTGGAAA others(1212): Show CCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAA AGCTCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATA TAAAGCTCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCC ATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAA TCCATATAAAGCTCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGT AAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCTCTGGAAAAAGTCTGTAGGGGAGAGACTGTTG TGAGGTAAATCCATATAAAGCTCTGGAAAAAGTCTGTAGGGGAGAGACTG TTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGA CTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAG AGACTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGCCTGTAGGG GAGAGACTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGTCTGTA GGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGCCT GTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAG CCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAA AAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCTCTGG AAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCTC TGGAAAAAGTCTCTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAG CTCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATA AAGCTCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCAT ATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATC CATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTA ATCCATATAAAGCTCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGG TTAATCCATATAAAGCTCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTG AGGTTAATCCATATAAAGCT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0019 a0019	a0019c0019 a0019c0019	a0019c0019t0062 a0019c0019t0062	a0019c0019t0062g0191 a0019c0019t0062g0191	1	210	0.0048	1219	c.45+ others(1234): Show c.45+9656_45+9657insCCTGTAGGGGAGAGACTGTTGTGAGGTTAA TCCATATAAAGCTCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGT AAATCCATATAAAGCTCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTG TGAGGTTAATCCATATAAAGCTCTGGAAAAAGTCTGTAGGGGAGAGACTG TTGTGAGGTAAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGA CTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGTCTGTAGGGGAG AGACTGTTGTGAGGTAAATCCATATAAAGCTCTGGAAAAAGTCTGTAGGG GAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTA GGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGCCT GTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAG CCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAA AAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCTCTGG AAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCC TGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAG CTCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATA AAGCTCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCAT ATAAAGCTCTGGAAAAAGTCTCTAGGGGAGAGACTGTTGTGAGGTTAATC CATATAAAGCTCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTAA ATCCATATAAAGCTCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGG TTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTG AGGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTT GTGAGGTTAATCCATATAAAGCTCTGGAAAAAGCCTGTAGGGGAGAGACT GTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAGTCTGTAGGGGAGAG ACTGTTGTGAGGTTAATCCATATAAAGCTCTGGAAAAAG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PNPLA7_chr9_137454952_137555402	137502737	C C	CGCGGGGG others(1212): Show CGCGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGACGGGG GGGACGCGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGGGGGGGAC GGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGGGGG GGACGGGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACG CGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACGGGGGG GACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGG GGGGGACGGGGGGGACGGGGGGGACGCGGGGGGGACGCGGGGGGGACGCG GGGGACGCGGGGGGACGCGGGGGACGCGGGGGGGACGCGGGGGGACGCGG GGGGACGCGGGGGGACGGGGGGGACGCGGGGGACGCGGGGGACGCGGGGG GGACGCGGGGGGACGCGGGGGGACGCGGGGGGACGCGGGGGGACGCGGGG GACGCGGGGGGGACGCGGGGGGGACGCGGGGGGGACGCGGGGGGGACGCG GGGGACGCGGGGGGGACGCGGGGGGGACGCGGGGGGGACGCGGGGGACGG GGGGGACGGGGGGACGCGGGGGGACGCGGGGGGGACGCGGGGGACGGGGG GGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGGACGCGGGGGGA CGCGGGGGACGCGGGGGACGCGGGGGACGGGGGGGACGCGGGGGGGACGC GGGGGGGACGCGGGGGACGCGGGGGACGCGGGGGACGCGGGGGACGCGGG GGGACGCGGGGGGACGCGGGGGGACGCGGGGGACGCGGGGGACGCGGGGG ACGCGGGGGACGCGGGGGACGGGGGGGACGCGGGGGGGACGCGGGGGACG GGGGGGACGCGGGGGACGCGGGGGACGCGGGGGACGCGGGGGACGGGGGG GACGCGGGGGACGCGGGGGACGCGGGGGACGCGGGGGACGGGGGGGACGG GGGGGACGCGGGGGGACGCGGGGGGGACGCGGGGGGGACGCGGGGGGGAC GCGGGGGGGACGCGGGGGGGACGCGGGGGGGACGCGGGGGGGACGCGGGG GACGGGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGG GGGGGACGGGGGGGACGCGGGGGGCGGGGGGGGCGGGGGGGACGGGGGGG ACGGGGGGGACCCGGGGGAT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	188	0.0053	1219	c.147 others(1238): Show c.1474-1011_1474-1010insATCCCCCGGGTCCCCCCCGTCCCCCC CGTCCCCCCCGCCCCCCCCGCCCCCCGCGTCCCCCCCGTCCCCCCCGTCC CCCCCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCGC GTCCCCCCCGCGTCCCCCCCGCGTCCCCCCCGCGTCCCCCCCGCGTCCCC CCCGCGTCCCCCCCGCGTCCCCCCCGCGTCCCCCCGCGTCCCCCCCGTCC CCCCCGTCCCCCGCGTCCCCCGCGTCCCCCGCGTCCCCCGCGTCCCCCCC GTCCCCCGCGTCCCCCGCGTCCCCCGCGTCCCCCGCGTCCCCCCCGTCCC CCGCGTCCCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCG CGTCCCCCGCGTCCCCCGCGTCCCCCCGCGTCCCCCCGCGTCCCCCCGCG TCCCCCGCGTCCCCCGCGTCCCCCGCGTCCCCCGCGTCCCCCCCGCGTCC CCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCGCGTCCCCC CGCGTCCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCCCG TCCCCCGCGTCCCCCCCGCGTCCCCCCGCGTCCCCCCGTCCCCCCCGTCC CCCGCGTCCCCCCCGCGTCCCCCCCGCGTCCCCCCCGCGTCCCCCGCGTC CCCCCCGCGTCCCCCCCGCGTCCCCCCCGCGTCCCCCCCGCGTCCCCCGC GTCCCCCCGCGTCCCCCCGCGTCCCCCCGCGTCCCCCCGCGTCCCCCCCG CGTCCCCCGCGTCCCCCGCGTCCCCCCCGTCCCCCCGCGTCCCCCCGCGT CCCCCCGCGTCCCCCCCGCGTCCCCCGCGTCCCCCCGCGTCCCCCGCGTC CCCCCCGCGTCCCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCC CCCCCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCCC GTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCC CCCCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCCCG TCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCC CCCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGT CCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCGC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
RGN_chrX_47073443_47098313	47089400	A A	AATATATT others(1212): Show AATATATTTATATTATATAATTATAATATTAATATAATATATTTATATTA TATAATTATAATATTAATATAATATATTTATATTATATAATTATAATTAT ATAATATATTTATATTATATAAATATAATTATATAATATATTTATATTAT ATAAATATAATATAATTATATAATATATTTATATTATATAAATATAATAT AATTATATAATATAATTATATTATATAAATATAATATAATTATATAATAT AATTATATTATATAAATATAATATAATTATATAATTATATAATATAATTA TATTATATAAATATAATAATATAATATAATTATATAAATATAATAATATA ATATAATTATATAAATATAATAATATAATATAATAATATAATATAATATA ATTATATTTTTATATAATATAATTATATTATATAATTATATAATATAAAT ATATTATATTATGTAATTATATAATATAATATAATTATATTATATTATAT AATTACATAATATAATATAATTATATTATATAATTATATAATATAATATA ATTATATTATATTATATAATTACATAATATAATATAATTATATTATATAA TTATATAATATAATATAATTATATTATATAATTATATAATATAATATAAT TATATTATATAATTATATAATATAATATAATTATATTATATAATTATATA ATATAATATAATATAATTATATTATATAATTATATAATAAATATAATATA ATATAATATAATTATATTATATAATTATATAATAAATATAATATAATTAT ATTATATAATTATATAATAAATATAATATAATTATATTATATAATTATAT TATAAATATAATATAATTATATTATATAATTATATAATAAATATAATATA ATTATATTATATAATTATATAATAAATATAATATAATTATATTATATAAT TATATAATAAATATAATATAATTATATTATATAATTATATAATAAATATA ATATAATTATATTATATAATTATATAATAAATATAATATAATTATATTAT ATAATTATATAATAATATAATATAATTATATTATATAATTATATAATAAT ATAATATAATTATATTATATAATATGATATAATATAATATAATATAATAT AATATAATTATATTATATAATTATATAATATAATATAATATAATTATATT ATATGATTATATATAATTAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0106 a0001c0001t0005g0106	1	304	0.0033	1219	c.347 others(1234): Show c.347-370_347-369insTTATATTATATAATTATAATATTAATATAA TATATTTATATTATATAATTATAATATTAATATAATATATTTATATTATA TAATTATAATTATATAATATATTTATATTATATAAATATAATTATATAAT ATATTTATATTATATAAATATAATATAATTATATAATATATTTATATTAT ATAAATATAATATAATTATATAATATAATTATATTATATAAATATAATAT AATTATATAATATAATTATATTATATAAATATAATATAATTATATAATTA TATAATATAATTATATTATATAAATATAATAATATAATATAATTATATAA ATATAATAATATAATATAATTATATAAATATAATAATATAATATAATAAT ATAATATAATATAATTATATTTTTATATAATATAATTATATTATATAATT ATATAATATAAATATATTATATTATGTAATTATATAATATAATATAATTA TATTATATTATATAATTACATAATATAATATAATTATATTATATAATTAT ATAATATAATATAATTATATTATATTATATAATTACATAATATAATATAA TTATATTATATAATTATATAATATAATATAATTATATTATATAATTATAT AATATAATATAATTATATTATATAATTATATAATATAATATAATTATATT ATATAATTATATAATATAATATAATATAATTATATTATATAATTATATAA TAAATATAATATAATATAATATAATTATATTATATAATTATATAATAAAT ATAATATAATTATATTATATAATTATATAATAAATATAATATAATTATAT TATATAATTATATTATAAATATAATATAATTATATTATATAATTATATAA TAAATATAATATAATTATATTATATAATTATATAATAAATATAATATAAT TATATTATATAATTATATAATAAATATAATATAATTATATTATATAATTA TATAATAAATATAATATAATTATATTATATAATTATATAATAAATATAAT ATAATTATATTATATAATTATATAATAATATAATATAATTATATTATATA ATTATATAATAATATAATATAATTATATTATATAATATGATATAATATAA TATAATATAATATAATATAATTATATTATATAATTATATAATATAATATA ATATAATTATATTATATGATTATATATAATTACATATAT	RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding	4/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(1212): Show CATATATATATTCCATATATATATATATTCCATATATATATATATTCCAT ATATATATTCCATATATATATATATTCCATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATTCCATATATATAT ATTCCATATATATATATTCCATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATTCCATATATATATATATTCC ATATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATATTCCATATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCATATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCATATATATATATTCCATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATATTCCAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATATTCCAT ATATATATATATTCCATATATATATATATTCCATATATATATTCCATATA TATATATATTCCATATATATATATTCCATATATATATATTCCATATATAT ATATTCCATATATATATTCCATATATATATTCCATATATATATTCCATAT ATATATTCCATATATATATATATTCCATATATATATTCCATATATATATA TATTCCATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	324	0.0031	1219	c.115 others(1236): Show c.115-2706_115-2705insATATATATATATATGGAATATATATATA TATGGAATATATATATGGAATATATATATATATGGAATATATATATGGAA TATATATATGGAATATATATATGGAATATATATATGGAATATATATATAT GGAATATATATATATGGAATATATATATATGGAATATATATATATATGGA ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATGGA ATATATATATATGGAATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATGGAATATA TATATATATGGAATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATGGAATATATATATATATGGAATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar

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Search Results (Total: 10000 hits)