Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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⚠️ 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
CRLF2_chrX_1185490_1217649	1198339	C C	CCCAGGAA others(673): Show CCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACAC CCTCCCTCCCACCTCGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAA GGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACACCCTCCCTCCCAC CTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTAGAAGGCAGGACACCC TCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGG CAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCC ACCTCCTAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGG ACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCT CGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTC CCTCCCACCTCCTAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAA GGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACAGCCTCCCTCCCAC CTCCCGGGAAGATAGGACACCCTCCCTCCCACCTCCCGGGAAGACAGGAC ACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCG AAGGCAGGACAGCCTCCCTCCCACCTCCCGG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0022 a0022	a0022c0020 a0022c0020	a0022c0020t0001 a0022c0020t0001	a0022c0020t0001g0004 a0022c0020t0001g0004	1	167	0.0060	680	c.646 others(695): Show c.646+222_646+223insCCGGGAGGTGGGAGGGAGGCTGTCCTGCCT TCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGG TGTCCTGTCTTCCCGGGAGGTGGGAGGGAGGGTGTCCTATCTTCCCGGGA GGTGGGAGGGAGGCTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGC CTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTAGGAGGTGGGAG GGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTC GAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTG TCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTAGGAGG TGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCT GCCTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGG AGGGTGTCCTGCCTTCTAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGA GGTGGGAGGGAGGGTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGC CTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCGAGGTGGGAGGGAG GGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGG	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	5/7			chrX	TogoVar
CROCC2_chr2_240901336_240998311	240924947	G G	GTCCCCCA others(673): Show GTCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTGACC CGGCCCCCCACACTAACCCAGTCCCCACACTGACCCAGTCCCCACACTGA CCCAGCCCCCACACTAACCCAGCCCCCCACACTACCCCGGCCCCCACACT GACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCAGTCCCCACAC TAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCAC ACTAACCCAGCCCCCCACACTAACCCAGCCCCCACACTAACCCAGCCCCC ACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGCCC CCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGC CCCCCACACTAACCCAGCCCCCACACTAACCCAGCCCCCACACTAACCCG GCCCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAAC CCAGCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAA CCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACA CTAACCCAGTCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCC ACACTATCCCGGCCCCCCACACTAACCCGGC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0245 a0002c0002t0002g0245	1	350	0.0029	680	c.489 others(695): Show c.489-777_489-776insTCCCCCACACTAACCCAGTCCCCACACTGA CCCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACACT GACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCAGCCCCCCACA CTACCCCGGCCCCCACACTGACCCAGTCCCCACACTGACCCAGCCCCCAC ACTAACCCAGTCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCC ACACTAACCCAGTCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCC CCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGT CCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCA GTCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCACACTAACC CAGCCCCCACACTAACCCGGCCCCCCCACACTAACCCAGTCCCCACACTG ACCCAGCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCACACT GACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCAC ACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCC CACACTAACCCAGCCCCCCACACTATCCCGGCCCCCCACACTAACCCGGC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924947	G G	GTCCCCCA others(673): Show GTCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTGACC CGGCCCCCCACACTAACCCAGTCCCCACACTGACCCAGTCCCCACACTGA CCCAGCCCCCCACACTAACCCAGCCCCCCACACTACCCCGGCCCCCACAC TGACCCAGTCCCCACACTGACCCAGCCCCCACACTAACCCAGTCCCCACA CTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCA CACTAACCCAGCCCCCCACACTAACCCAGCCCCCACACTAACCCAGCCCC CACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAGCC CCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCAG CCCCCCACACTAACCCAGCCCCCACACTAACCCAGCCCCCACACTAACCC GGCCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAAC CCAGCCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACACTAA CCCGGCCCCCCACACTAACCCAGCCCCCCACACTAACCCGGCCCCCCACA CTAACCCAGTCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCC ACACTATCCCGGCCCCCCACACTAACCCGGC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0324 a0002c0011t0002g0324	1	350	0.0029	680	c.489 others(695): Show c.489-777_489-776insTCCCCCACACTAACCCAGTCCCCACACTGA CCCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACACT GACCCAGTCCCCACACTGACCCAGCCCCCCACACTAACCCAGCCCCCCAC ACTACCCCGGCCCCCACACTGACCCAGTCCCCACACTGACCCAGCCCCCA CACTAACCCAGTCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCC CACACTAACCCAGTCCCCACACTAACCCAGCCCCCCACACTAACCCAGCC CCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAG TCCCCACACTAACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCC AGTCCCCACACTAACCCAGCCCCCCACACTAACCCAGCCCCCACACTAAC CCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTG ACCCAGCCCCCACACTAACCCAGCCCCCACACTAACCCAGTCCCCACACT GACCCAGCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCCAC ACTAACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCC CACACTAACCCAGCCCCCCACACTATCCCGGCCCCCCACACTAACCCGGC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CRTC3_chr15_90524923_90650345	90647358	A A	ACCCCTCC others(673): Show ACCCCTCCTCAACCTCCACACCACACCCCCTCCACTACCCGCTCCTCACC TCTCCCCTCCCTCACCCCTCCTCCTCCACACCCCTCCTCCTCCTCCACAT CCCTACCCCTCCACACCCCTCCCACCTCACTTTTCCCCCTTCACACACCT CCTCAACCTTCACATCCCTCCCCCTCCACATTCCTTCCCCCTCCTCACCC CTCTCCCCTCATCACCTCTCCTCCTCCTCCACACCCCTCCTCCTCCACAC CCCTCCTCCTCCTCCACACCCCTCCTCTTCCTCCTCCACACCCCTCCTCC TCCACACCCCTCTTCCTCCTCCATACCCCTCCTCCTCAACCCTCCTCCTT CACACCCCTCACCCCTTTTCCACATCCCTCCTCCTTGCCCCTCCTCCTCA CCCTTTGTCCTCCTCCACACCCCTTCTCCTCCTCCATACCCCTCCTTCTC AACCCTCCTCCTCCACACCCCTCCTCCTCACCCCTTCTCCTCCTCCACAC CTGTCCTCCTCCACACTCATCCTCCTCACCGTTCCTCCACCACATCCCTC CTCCTCCACACCCCTCCTCACCCCTTGTCCTCCTCCAAACGCTTCTTCCT CCTGTTTCTTCCTCCACACCCCTCCTGCTCCACATCCCTCCCCCTCCATC CCCTCCACACCCCTCCCCCTCCTCACCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG02293.hp1 NA18945.hp1 others(1): Show HG01934.hp1 HG02293.hp1 NA18945.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0199 others(1): Show a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0199 a0001c0001t0001g0244	4	276	0.0145	680	c.52 others(691): Show c.5218_*5219insCCCCTCCTCAACCTCCACACCACACCCCCTCCAC TACCCGCTCCTCACCTCTCCCCTCCCTCACCCCTCCTCCTCCACACCCCT CCTCCTCCTCCACATCCCTACCCCTCCACACCCCTCCCACCTCACTTTTC CCCCTTCACACACCTCCTCAACCTTCACATCCCTCCCCCTCCACATTCCT TCCCCCTCCTCACCCCTCTCCCCTCATCACCTCTCCTCCTCCTCCACACC CCTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCCTCCTCTTCCTCCT CCACACCCCTCCTCCTCCACACCCCTCTTCCTCCTCCATACCCCTCCTCC TCAACCCTCCTCCTTCACACCCCTCACCCCTTTTCCACATCCCTCCTCCT TGCCCCTCCTCCTCACCCTTTGTCCTCCTCCACACCCCTTCTCCTCCTCC ATACCCCTCCTTCTCAACCCTCCTCCTCCACACCCCTCCTCCTCACCCCT TCTCCTCCTCCACACCTGTCCTCCTCCACACTCATCCTCCTCACCGTTCC TCCACCACATCCCTCCTCCTCCACACCCCTCCTCACCCCTTGTCCTCCTC CAAACGCTTCTTCCTCCTGTTTCTTCCTCCACACCCCTCCTGCTCCACAT CCCTCCCCCTCCATCCCCTCCACACCCCTCCCCCTCCTCACCCCGT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2014		chr15	TogoVar
CYP4F11_chr19_15907377_15939529	15933032	A A	ATGAGTGA others(673): Show ATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGA GTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGA GTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0036 a0005c0010t0036	a0005c0010t0036g0130 a0005c0010t0036g0130	1	386	0.0026	680	c.198 others(697): Show c.198+1178_198+1179insCTCCTCTCCCCGCTCACTCACTCCTCTC CCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTGCCCGCTCACT CACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTG CCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACT CACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTC CCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACT CACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTC CCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACT CACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTC CCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACT CACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTC CCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTGCCCGCTCACT CACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTG CCCGCTCACTCACTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACT CA	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933143	G G	GGGAGAGG others(673): Show GGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAA TGAGTGAGCGAGGAGAGGAATGAGTGAGTGGGGAGAGGAATGAGTGAGCG AGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAA TGAGTGAGCGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAA TGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAGTGAGTGAGTG AGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAA TGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGCG AGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAA TGAGTGAGCGGGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG AGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAAGAA TGAGTGAGCGAGGAGAGGAATGAGTGAGCGA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0038 a0003c0003t0038	a0003c0003t0038g0102 a0003c0003t0038g0102	1	386	0.0026	680	c.198 others(697): Show c.198+1067_198+1068insTCGCTCACTCATTCCTCTCCTCGCTCAC TCATTCTTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCATTCCTCT CCTCACTCACTCATTCCTCTCCTCACTCACTCATTCCTCTCCCCGCTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCTCGCTCACTCATTCCTCT CCTCGCTCACTCATTCCTCTCCTCACTCACTCATTCCTCTCCTCACTCAC TCATTCTTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCATTCTTCT CCTCACTCACTCACTCCTCTCCTCACTCACTCATTCTTCTCCTCACTCAC TCATTCCTCTCCTCACTCACTCATTCTTCTCCTCACTCACTCATTCCTCT CCTCACTCACTCATTCCTCTCCTCACTCACTCATTCCTCTCCTCACTCAC TCATTCCTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCATTCCTCT CCTCACTCACTCATTCCTCTCCTCACTCACTCATTCCTCTCCTCGCTCAC TCATTCCTCTCCTCGCTCACTCATTCCTCTCCTCGCTCACTCATTCCTCT CCTCGCTCACTCATTCCTCTCCCCACTCACTCATTCCTCTCCTCGCTCAC TCATTCCTCTCCTCGCTCACTCATTCCTCTCCTCGCTCACTCATTCCTCT CC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933303	A A	AGCAGAGG others(673): Show AGCAGAGGAATGAGTGAGCGAGCAGAGGAATGAGTGAGCGAGAAGAGGAA TGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCG GGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAA TGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCG GGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAA TGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCG GGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAA TGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCG GGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAA TGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCG GGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAA TGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCG GGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAA TGAGTGAGCGGGGAGAGGAATGAGTGAGCGG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0166 a0002c0001t0166	a0002c0001t0166g0336 a0002c0001t0166g0336	1	386	0.0026	680	c.198 others(695): Show c.198+907_198+908insCCGCTCACTCATTCCTCTCCCCGCTCACTC ATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCC CCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTC ATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTCC CCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTC ATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCC CCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTC ATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCC CCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTC ATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCC CCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTC ATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCC CCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCCCGCTCACTC ATTCCTCTTCTCGCTCACTCATTCCTCTGCTCGCTCACTCATTCCTCTGC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
ESYT2_chr7_158725997_158834509	158745299	G G	GGCATGAC others(673): Show GGCATGACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACCTATCTAATG AGACAGGGCCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCCGGCTGTTC ACACTCACCTATCTAATGAGACAGGGTCGGGCAAGCGGCATGACCAGGTC TCCTAGGCCCGGCTGTTCACACTCACCTATCTAATGAGACAGGGTCGGGC AAGCGGCATGACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACCTATCT AATGAGACAGGGTCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCGGGCT GTTCACACTCACCTATCTAATGAGACAGGGTCGGGCAAGCGGCATGACCA GGTCTCCTAGGCCGGGCTGTTCACACTCACCTATCTAATGAGACAGGGTC GGGCAAGCGGCATGACCAGGTCTCCTAGGCCCGGCTGTTCACACTCACTT ATCTAATGAGACAGGGCCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCC GGCTGTTCACACTCACCTATCTAATGAGACAGGGTCGGGCAAGCGGCATG ACCAGGTCTCCTAGGCCGGGCTGTTCACACTCACCTATCTAATGAGACAG GGTCGGGCAAGCGGCATGACCAGGTCTCCTAGGCCGGGCTGTTCACACTC ACCTATCTAATGAGACAGGGTCGGGCAAGCA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0229 a0002c0002t0002g0229	1	370	0.0027	680	c.164 others(699): Show c.1645-1622_1645-1621insTGCTTGCCCGACCCTGTCTCATTAGA TAGGTGAGTGTGAACAGCCCGGCCTAGGAGACCTGGTCATGCCGCTTGCC CGACCCTGTCTCATTAGATAGGTGAGTGTGAACAGCCCGGCCTAGGAGAC CTGGTCATGCCGCTTGCCCGACCCTGTCTCATTAGATAGGTGAGTGTGAA CAGCCGGGCCTAGGAGACCTGGTCATGCCGCTTGCCCGGCCCTGTCTCAT TAGATAAGTGAGTGTGAACAGCCGGGCCTAGGAGACCTGGTCATGCCGCT TGCCCGACCCTGTCTCATTAGATAGGTGAGTGTGAACAGCCCGGCCTAGG AGACCTGGTCATGCCGCTTGCCCGACCCTGTCTCATTAGATAGGTGAGTG TGAACAGCCCGGCCTAGGAGACCTGGTCATGCCGCTTGCCCGACCCTGTC TCATTAGATAGGTGAGTGTGAACAGCCGGGCCTAGGAGACCTGGTCATGC CGCTTGCCCGACCCTGTCTCATTAGATAGGTGAGTGTGAACAGCCGGGCC TAGGAGACCTGGTCATGCCGCTTGCCCGACCCTGTCTCATTAGATAGGTG AGTGTGAACAGCCGGGCCTAGGAGACCTGGTCATGCCGCTTGCCCGGCCC TGTCTCATTAGATAGGTGAGTGTGAACAGCCGGGCCTAGGAGACCTGGTC ATGC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	16/22			chr7	TogoVar
FLT4_chr5_180596506_180654600	180614200	T T	TTGTCCCG others(673): Show TTGTCCCGTGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGTGGTGGAT GGGGAGACGGAGGGAAGCGTGTCCCGTGGTGGATGGGGAGACGGAGGGAA GCGTGTCCCGCGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGTGGTGG ATGGGGAGACAGAGGGAAGCTTGTCCCGCGGTGGATGGGGAGACGGAGGG AAGCGTGTCCCGTGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGTGGT GGATGGGGAGACGGAGGGAAGCGTGTCCCGTGGTGGATGGGGAGACAGAG GGAAGCTTGTCCCGCGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGTG GTGGATGGGGAGACAGAGGGAAGCTTGTCCCGCGGTGGATGGGGAGACGG AGGGAAGCGTGTCCCGTGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCG TGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGCGGTGGATGGGGAGAC GGAGGGAAGCGTGTCCCGTGGTGGATGGGGAGACGGAGGGAAGCGTGTCC CGTGGTGGATGGGGAGACGGAGGGAAGCGTGTCCCGCGGTGGATGGGGAG ACGGAGGGAAGCGTGTCCCGTGGTGGATGGGGAGACAGAGGGAAGCTTGT CCCGCGGTGGATGGGGAGACGGAGGGAAGCG	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0114 a0001c0009t0002g0114	1	388	0.0026	680	c.322 others(695): Show c.3220-22_3220-21insCGCTTCCCTCCGTCTCCCCATCCACCGCGG GACAAGCTTCCCTCTGTCTCCCCATCCACCACGGGACACGCTTCCCTCCG TCTCCCCATCCACCGCGGGACACGCTTCCCTCCGTCTCCCCATCCACCAC GGGACACGCTTCCCTCCGTCTCCCCATCCACCACGGGACACGCTTCCCTC CGTCTCCCCATCCACCGCGGGACACGCTTCCCTCCGTCTCCCCATCCACC ACGGGACACGCTTCCCTCCGTCTCCCCATCCACCACGGGACACGCTTCCC TCCGTCTCCCCATCCACCGCGGGACAAGCTTCCCTCTGTCTCCCCATCCA CCACGGGACACGCTTCCCTCCGTCTCCCCATCCACCGCGGGACAAGCTTC CCTCTGTCTCCCCATCCACCACGGGACACGCTTCCCTCCGTCTCCCCATC CACCACGGGACACGCTTCCCTCCGTCTCCCCATCCACCACGGGACACGCT TCCCTCCGTCTCCCCATCCACCGCGGGACAAGCTTCCCTCTGTCTCCCCA TCCACCACGGGACACGCTTCCCTCCGTCTCCCCATCCACCGCGGGACACG CTTCCCTCCGTCTCCCCATCCACCACGGGACACGCTTCCCTCCGTCTCCC CATCCACCACGGGACACGCTTCCCTCCGTCTCCCCATCCACCACGGGACA	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FOXP1_chr3_70949708_71588728	71435841	A A	AAGGGACG others(673): Show AAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGA GGGAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAG GAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAAGGAGGGACGGA GGGAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAG GAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGACGGA GGGAGGGAAGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGG AAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGA GGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGG GAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGA GGGAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAGG AAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGA GGGAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAG GAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGACGGA GGGAGGGAGGAAGGGACGGAGGGAGGGAAGG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0018 a0001c0001t0081g0018	1	96	0.0104	680	c.-16 others(701): Show c.-168+57584_-168+57585insCCTTCCCTCCCTCCGTCCCTTCCT CCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCC GTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCTT CCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCC GTCCCTTCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCCT CCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCC GTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCT CCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCC GTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCTT CCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCC GTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCTT CCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCC GTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCTT CCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCTTCCCTCCCTCC GTCCCT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(673): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATATATATATATATA AATATATATATTTATATATATATATAAATATATATATTTATATTTATTTA TATATATAAATATATATATTTATATTTATTTATATATATATAAATATATA TATTTATATTTATATTTATATATTTATATTTATATATATAAATATATATA TTTATATTTATTTATATATATAAATATATATATTAATATATATTTATATA TATAAATATATATATTTATATATAAATATATATTTATGTATATTTATATA TAAATATATATATTTATATATATAAATATATATATTTATATATAAATATA TATATTTATATATATATTTATATATAAATATATATATTTATATATAAATA TATATATTTATATATATATTTATATATAAATATATATATTTATATATAAA TATATATATTTATATATATAAATATATATATTTATATATATAAATATATA TATATTTATATTTACAAATATATATATTTATATATATATTTATATTTATA TATATTTATATTTATATATATATATATAAATATATATTTATGTATATTTA TATATAAATATAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0142 a0001c0001t0033g0142	1	208	0.0048	680	c.-97 others(697): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATATATAT ATATATAAATATATATATTTATATATATATATAAATATATATATTTATAT TTATTTATATATATAAATATATATATTTATATTTATTTATATATATATAA ATATATATATTTATATTTATATTTATATATTTATATTTATATATATAAAT ATATATATTTATATTTATTTATATATATAAATATATATATTAATATATAT TTATATATATAAATATATATATTTATATATAAATATATATTTATGTATAT TTATATATAAATATATATATTTATATATATAAATATATATATTTATATAT AAATATATATATTTATATATATATTTATATATAAATATATATATTTATAT ATAAATATATATATTTATATATATATTTATATATAAATATATATATTTAT ATATAAATATATATATTTATATATATAAATATATATATTTATATATATAA ATATATATATATTTATATTTACAAATATATATATTTATATATATATTTAT ATTTATATATATTTATATTTATATATATATATATAAATATATATTTATGT ATATTTATATATAAATATAAATATATATTTATATATAAATATAAATATAT AT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(673): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA AATATATATATTTATATATATATATAAATATATATATTTATATTTATTTA TATATATAAATATATATATTTATATTTATTTATATATATATAAATATATA TATTTATATTTATATTTATATATTTATATTTATATATATAAATATATATA TTTATATTTATTTATATATATAAATATATATATTAATATATATTTATATA TATAAATATATATATTTATATATAAATATATATTTATGTATATTTATATA TAAATATATATATTTATATATATAAATATATATATTTATATATAAATATA TATATTTATATATAAATATATATATAAATATATATATTTATATATAAATA TATATATTTATATATATATTTATATATAAATATATATATTTATATATAAA TATATATATTTATATATATAAATATATATATTTATATATATAAATATATA TATATTTATATTTACAAATATATATATTTATATATATATTTATATTTATA TATATTTATATTTATATATATATATATAAATATATATTTATGTATATTTA TATATAAATATAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG06807.hp1 homoSapiens_chm13v2.hp1 HG03654.hp1 HG06807.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0137 a0001c0001t0003g0185 a0001c0001t0006g0103 a0001c0001t0001g0137 a0001c0001t0003g0185 a0001c0001t0006g0103	3	208	0.0144	680	c.-97 others(697): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATAAATATATATATTTATATATATATATAAATATATATATTTATAT TTATTTATATATATAAATATATATATTTATATTTATTTATATATATATAA ATATATATATTTATATTTATATTTATATATTTATATTTATATATATAAAT ATATATATTTATATTTATTTATATATATAAATATATATATTAATATATAT TTATATATATAAATATATATATTTATATATAAATATATATTTATGTATAT TTATATATAAATATATATATTTATATATATAAATATATATATTTATATAT AAATATATATATTTATATATAAATATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATATATTTATATATAAATATATATATTTAT ATATAAATATATATATTTATATATATAAATATATATATTTATATATATAA ATATATATATATTTATATTTACAAATATATATATTTATATATATATTTAT ATTTATATATATTTATATTTATATATATATATATAAATATATATTTATGT ATATTTATATATAAATATAAATATATATTTATATATAAATATAAATATAT AT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(673): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATATATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATATAAATATATATATTTATATATAAATA TATATATTTATATATAAATATATATAAATATATATATTTATATATAAATA TATATATTTATATATATATTTATATATAAATATATATATTTATATATAAA TATATATATTTATATATATAAATATATATATTTATATATATAAATATATA TATATTTATATTTACAAATATATATATTTATATATATATTTATATTTATA TATATTTATATTTATATATATAAATATAAATATATATTTATGTATATTTA TATATAAATATAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	208	0.0048	680	c.-97 others(697): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATATATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATAAATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATATATTTATATATAAATATATATATTTAT ATATAAATATATATATTTATATATATAAATATATATATTTATATATATAA ATATATATATATTTATATTTACAAATATATATATTTATATATATATTTAT ATTTATATATATTTATATTTATATATATAAATATAAATATATATTTATGT ATATTTATATATAAATATAAATATATATTTATATATAAATATAAATATAT AT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(673): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATAAATATATATATTTATATATAAATATATATTTATGTATATTTATATA TAAATATATATATTTATATATATAAATATATATATTTATATATAAATATA TATATTTATATATAAATATATATATAAATATATATATTTATATATAAATA TATATATTTATATATATATTTATATATAAATATATATATTTATATATAAA TATATATATTTATATATATAAATATATATATTTATATATATAAATATATA TATATTTATATTTACAAATATATATATTTATATATATATTTATATTTATA TATATTTATATTTATATATATATATATAAATATATATTTATGTATATTTA TATATAAATATAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	208	0.0048	680	c.-97 others(697): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATAAATATATATATTTATATATAAATATATATTTATGTATAT TTATATATAAATATATATATTTATATATATAAATATATATATTTATATAT AAATATATATATTTATATATAAATATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATATATTTATATATAAATATATATATTTAT ATATAAATATATATATTTATATATATAAATATATATATTTATATATATAA ATATATATATATTTATATTTACAAATATATATATTTATATATATATTTAT ATTTATATATATTTATATTTATATATATATATATAAATATATATTTATGT ATATTTATATATAAATATAAATATATATTTATATATAAATATAAATATAT AT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(673): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATATAAATATATATATTTATATATAAATA TATATATTTATATATAAATATATATATATATATATATTTATATATAAATA TATATATTTATATATATATTTATATATAAATATATATATTTATATATAAA TATATATATTTATATATATAAATATATATATTTATATATATAAATATATA TATATTTATATTTACAAATATATATATTTATATATATATTTATATTTATA TATATTTATATTTATATATATATATATAAATATATATTTATGTATATTTA TATATAAATATAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	208	0.0048	680	c.-97 others(697): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATAAATATATATATATATATATATTTATAT ATAAATATATATATTTATATATATATTTATATATAAATATATATATTTAT ATATAAATATATATATTTATATATATAAATATATATATTTATATATATAA ATATATATATATTTATATTTACAAATATATATATTTATATATATATTTAT ATTTATATATATTTATATTTATATATATATATATAAATATATATTTATGT ATATTTATATATAAATATAAATATATATTTATATATAAATATAAATATAT AT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(673): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATTTATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTTATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATAAATATATATATTTATATATAAATATA TATATTTATATATAAATATATATATAAATATATATATTTATATATAAATA TATATATTTATATATATATTTATATATAAATATATATATTTATATATAAA TATATATATTGATATATATAAATATATATATTTATATATATAAATATATA TATATTTATATTTACAAATATATATATTTATATATATATTTATATTTATA TATATTTATATTTATATATATATATATAAATATATATTTATGTATATTTA TATATAAATATAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0121 a0001c0012t0001g0121	1	208	0.0048	680	c.-97 others(697): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATTTAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTTATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATAAATATATATATTTATATAT AAATATATATATTTATATATAAATATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATATATTTATATATAAATATATATATTTAT ATATAAATATATATATTGATATATATAAATATATATATTTATATATATAA ATATATATATATTTATATTTACAAATATATATATTTATATATATATTTAT ATTTATATATATTTATATTTATATATATATATATAAATATATATTTATGT ATATTTATATATAAATATAAATATATATTTATATATAAATATAAATATAT AT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GTPBP6_chrX_299759_323796	310598	C C	CTGTCCTT others(673): Show CTGTCCTTCTAAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCC ACAGACAGAGGCAGAGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCC TGGAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCT CCAGAGGGAACTGGATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACA AAAGACCTGTCCATGTATTGATCATCTGGAACCTGTGAATGGGACATTAT TTGGAAACAGGGTCTCTGCAGATGTGATTAACTGGAAGATCTGGAAATGA GATCATCCTGGATTAGGGTGGACCCTAAATCTAATGACTACTGTCCTTCT AAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCACAGACAGAG GCAGAGACTGGAGTGATGCGGCCTCAAGCCCAGGGACGCCTGGAGCCCCC AGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAA CTGGATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGT CCATGTATTGATCATCTGGAACCTGTGAATGGGACATTATTTGGAAACAG GGTCTCTGCAGATGTGATTAACTGGAAGATCTGGAAATGAGATCATCCTG GATTAGGGTGGACCATAAATCTAATGACAGG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp1 HG02486.hp1 HG02615.hp1	a0015 a0021 a0015 a0021	a0015c0022 a0021c0027 a0015c0022 a0021c0027	a0015c0022t0004 a0021c0027t0004 a0015c0022t0004 a0021c0027t0004	a0015c0022t0004g0103 a0021c0027t0004g0083 a0015c0022t0004g0103 a0021c0027t0004g0083	2	155	0.0129	680	c.112 others(697): Show c.1125+820_1125+821insCCTGTCATTAGATTTATGGTCCACCCTA ATCCAGGATGATCTCATTTCCAGATCTTCCAGTTAATCACATCTGCAGAG ACCCTGTTTCCAAATAATGTCCCATTCACAGGTTCCAGATGATCAATACA TGGACAGGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATC CAGTTCCCTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCT CCTGGGGGCTCCAGGCGTCCCTGGGCTTGAGGCCGCATCACTCCAGTCTC TGCCTCTGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCT CTTAGAAGGACAGTAGTCATTAGATTTAGGGTCCACCCTAATCCAGGATG ATCTCATTTCCAGATCTTCCAGTTAATCACATCTGCAGAGACCCTGTTTC CAAATAATGTCCCATTCACAGGTTCCAGATGATCAATACATGGACAGGTC TTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTCCCTC TGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCT CCAGGCGTCCCTGGGCTTGTGGCCGCATCACTCCAGTCTCTGCCTCTGTC TGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAGGA CA	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	7/9			chrX	TogoVar
GTPBP6_chrX_299759_323796	310598	C C	CTGTCCTT others(673): Show CTGTCCTTCTAAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCC ACAGACAGAGGCAGAGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCC TGGAGCCCCCAGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCT CCAGAGGGAACTGGATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACA AAAGACCTGTCCATGTATTGATCATCTGGAACCTGTGAATGGGACATTAT TTGGAAACAGGGTCTCTGCAGATGTGATTAAGTGGAAGATCTGGAAATGA GATCATCCTGGATTAGGGTGGACCCTAAATCTAATGACTACTGTCCTTCT AAGAGACAGAAGAGGAGACACAGACACAGAGGAGAAGGCCACAGACAGAG GCAGAGACTGGAGTGATGCGGCCACAAGCCCAGGGACGCCTGGAGCCCCC AGGAGCTGGGAGAGGCAGGAAGGACCCTCCCCTAGAGCCTCCAGAGGGAA CTGGATCCAACTGAAGTGAACTGAACTGTGGCCCCCCACAAAAGACCTGT CCATGTATTGATCATCTGGAACCTGTGAATGGGACATTATTTGGAAACAG GGTCTCTGCAGATGTGATTAACTGGAAGATCTGGAAATGAGATCATCCTG GATTAGGGTGGACCATAAATCTAATGACAGG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00733.hp1 HG00735.hp1 others(30): Show HG00423.hp1 HG00733.hp1 HG00735.hp1 HG01074.hp2 HG01169.hp1 HG01175.hp2 HG01943.hp1 HG02080.hp2 HG02129.hp2 HG02273.hp1 HG02273.hp2 HG03490.hp2 HG03834.hp1 NA18941.hp2 NA18949.hp1 NA18950.hp1 NA18952.hp1 NA18953.hp1 NA18956.hp1 NA18957.hp1 NA18960.hp2 NA18984.hp1 NA18985.hp1 NA18992.hp1 NA18993.hp1 NA19002.hp1 NA19011.hp2 NA19064.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA20805.hp1	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0009 a0012 a0020 a0025	a0001c0001 a0002c0002 a0002c0005 others(6): Show a0001c0001 a0002c0002 a0002c0005 a0004c0007 a0005c0010 a0009c0012 a0012c0013 a0020c0025 a0025c0020	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(7): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0002c0005t0002 a0004c0007t0002 a0005c0010t0001 a0009c0012t0002 a0012c0013t0001 a0020c0025t0002 a0025c0020t0002	a0001c0001t0001g0039 a0001c0001t0002g0003 a0001c0001t0002g0004 others(28): Show a0001c0001t0001g0039 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0069 a0002c0002t0002g0125 a0002c0005t0002g0121 a0002c0005t0002g0130 a0004c0007t0002g0012 a0004c0007t0002g0014 a0005c0010t0001g0024 a0009c0012t0002g0041 a0009c0012t0002g0042 a0012c0013t0001g0134 a0020c0025t0002g0051 a0025c0020t0002g0026	33	155	0.2129	680	c.112 others(697): Show c.1125+820_1125+821insCCTGTCATTAGATTTATGGTCCACCCTA ATCCAGGATGATCTCATTTCCAGATCTTCCAGTTAATCACATCTGCAGAG ACCCTGTTTCCAAATAATGTCCCATTCACAGGTTCCAGATGATCAATACA TGGACAGGTCTTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATC CAGTTCCCTCTGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCT CCTGGGGGCTCCAGGCGTCCCTGGGCTTGTGGCCGCATCACTCCAGTCTC TGCCTCTGTCTGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCT CTTAGAAGGACAGTAGTCATTAGATTTAGGGTCCACCCTAATCCAGGATG ATCTCATTTCCAGATCTTCCACTTAATCACATCTGCAGAGACCCTGTTTC CAAATAATGTCCCATTCACAGGTTCCAGATGATCAATACATGGACAGGTC TTTTGTGGGGGGCCACAGTTCAGTTCACTTCAGTTGGATCCAGTTCCCTC TGGAGGCTCTAGGGGAGGGTCCTTCCTGCCTCTCCCAGCTCCTGGGGGCT CCAGGCGTCCCTGGGCTTGTGGCCGCATCACTCCAGTCTCTGCCTCTGTC TGTGGCCTTCTCCTCTGTGTCTGTGTCTCCTCTTCTGTCTCTTAGAAGGA CA	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	7/9			chrX	TogoVar
HAUS2_chr15_42543838_42574994	42557401	T T	TATATATA others(673): Show TATATATAGTATATATTTTATATATATTATATATTTTATATATAGTATAT ATTTTATATATAATATATATTTTATATATAATATATATATTTTATATATA ATATATATTATATATATATTATATAAAATATATAATATATATTATATATA TATTATATAAAATATATAATATATATTTATATATATCATATATTTTATAT ATAATATATATTTTATATATATCATATATTTTATATATAATATATATTAT ATATACATTATATAATATATATATATATTATATTATATACATTATATATT ATATAATATATATTATATATTATACGTAATATATAATGTATATTATATAT AATATATTATGTATATAATGTATATTATATATAATATACATTATATATAA TGTATATTATATGTAATATACACATTATATATAATGTATATTATATGTAA TATACACATTATATATAATGTATATTATATGTAATATACACATTATATAT AATGTATATTATATGTAATATACACATTATATATAATGTATATTATATGT AATATATACATTATATATAATGTATATTATATGTAATATATACATTATAT ATAATGTATATTATATGTAATATATACATTATATAATGTATATTATATGT AATATATACATTATATAATGTATATTATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0298 a0001c0002t0004g0298	1	350	0.0029	680	c.94- others(693): Show c.94-790_94-789insGTATATATTTTATATATATTATATATTTTATA TATAGTATATATTTTATATATAATATATATTTTATATATAATATATATAT TTTATATATAATATATATTATATATATATTATATAAAATATATAATATAT ATTATATATATATTATATAAAATATATAATATATATTTATATATATCATA TATTTTATATATAATATATATTTTATATATATCATATATTTTATATATAA TATATATTATATATACATTATATAATATATATATATATTATATTATATAC ATTATATATTATATAATATATATTATATATTATACGTAATATATAATGTA TATTATATATAATATATTATGTATATAATGTATATTATATATAATATACA TTATATATAATGTATATTATATGTAATATACACATTATATATAATGTATA TTATATGTAATATACACATTATATATAATGTATATTATATGTAATATACA CATTATATATAATGTATATTATATGTAATATACACATTATATATAATGTA TATTATATGTAATATATACATTATATATAATGTATATTATATGTAATATA TACATTATATATAATGTATATTATATGTAATATATACATTATATAATGTA TATTATATGTAATATATACATTATATAATGTATATTATATAATATATA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
IFNAR1_chr21_33319970_33364864	33323559	A A	AATATATA others(673): Show AATATATATATATGGAATATATATATGGAATATATATATATGGAATATAT ATGGAATATATATATGGAATATATATATGGAATATATATATGGAATATAT ATATGGAATATATATATGGAATATATATATGGAATATATATATGGAATAT ATATATATGGAATATATATATGGAATATATATATATGGAATATATATATG GAATATATATATATGGAATATATATATGGAATATATATATATGGAATATA TATATGGAATATATATATATGGAATATATATATGGAATATATATATATGG AATATATATATGGAATATATATATATGGAATATATATATATGGAATATAT ATGTGGAATATATATGTGGAATATATATATGTGGAATATATATGTGGAAT ATATATATGGAATATATATGTGGAATATATATATGGAATATATATGTGGA ATATATATATGGAATATATATGTGGAATATATATATGGAATATATATGTG GAATATATATATATGGAATATATATGTGGAATATATATATATGGAATATA TATGTGGAATATATATATATGGAATATATATGTGGAATATATATATATGG AATATATATGTGGAATATATATATGGAATATATATATATGGAATATATGT GGAATATATATATATGGAATATATGTGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0023 a0003c0003t0023	a0003c0003t0023g0121 a0003c0003t0023g0121	1	323	0.0031	680	c.-14 others(691): Show c.-1497_-1496insATATATATATATGGAATATATATATGGAATATAT ATATATGGAATATATATGGAATATATATATGGAATATATATATGGAATAT ATATATGGAATATATATATGGAATATATATATGGAATATATATATGGAAT ATATATATGGAATATATATATATGGAATATATATATGGAATATATATATA TGGAATATATATATGGAATATATATATATGGAATATATATATGGAATATA TATATATGGAATATATATATGGAATATATATATATGGAATATATATATGG AATATATATATATGGAATATATATATGGAATATATATATATGGAATATAT ATATATGGAATATATATGTGGAATATATATGTGGAATATATATATGTGGA ATATATATGTGGAATATATATATGGAATATATATGTGGAATATATATATG GAATATATATGTGGAATATATATATGGAATATATATGTGGAATATATATA TGGAATATATATGTGGAATATATATATATGGAATATATATGTGGAATATA TATATATGGAATATATATGTGGAATATATATATATGGAATATATATGTGG AATATATATATATGGAATATATATGTGGAATATATATATGGAATATATAT ATATGGAATATATGTGGAATATATATATATGGAATATATGTGGAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1410		chr21	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(673): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGC AGGGAGGAGGGACAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGG AGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGATGGGCAGGGAG GAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGG CAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAG GAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGG CAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAG GGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGACGGGCAGG GAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGG GGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGC AGGGAGGAGGGGCAAGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0040 a0001c0005t0002g0040	1	204	0.0049	680	c.978 others(697): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGGAGAGACAGGCA GGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGG AGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGG AGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGA GAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGG AGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGG AGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGA GAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGC AGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGG GAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACG GGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGG AGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGG GCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAAGGAGGAGGGGCAGGGA GG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INS_chr11_2154779_2166209	2161748	A A	ACACCCCT others(673): Show ACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCT GTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTG TCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGA CCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGT CCCCACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCGGG ACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGT CCCCAGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACA CCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCAGACCCCTGTC CCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGAC CCCTGTCCCCAGACCCCTGTCCCCGGGACCCCTGTCCTCACACCCCTGTC CCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACC CCTGTCCCCGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCC CACACCCCTGTCCCCACACCCCTGTCCCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	376	0.0027	680	c.-59 others(689): Show c.-599_-598insCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGACAGGGGTGT GGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAG GGGTGTGAGGACAGGGGTCCCGGGGACAGGGGTCTGGGGACAGGGGTCTG GGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAG GGGTCTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGG GGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGG GGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGG GGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGG GGTCCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTCTGG GGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGG GTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGG ACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGG TGTGGGGATAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTG	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		540		chr11	TogoVar
KIAA0930_chr22_45187244_45245894	45228891	A A	ACCCCCCA others(673): Show ACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCAC CACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCAAACACTCACCT GAGAGATCCCTCTCCACCCCCGCCACCACCACTCACCCGAAAGATCCCTC TCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCCACCCCCGCCA TCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCC GAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCT CCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACC ACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCAAACACTCAC CTGAGAGATCCCTCTCCACCCCCGCCATCACCACTCACCCGAAAGATCCC TCTCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCA ACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCAAACACT CACCTGAGAGATCCCTCTCCACCCCCGCCATCACCACTCACCCGAAAGAT CCCTCTTCACCCCCCAACCACCACTCACCCGAAAGATCCCTCCCCATCCC CCCCCACCACTCACCCGAAAGATCCCTCTCC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	398	0.0025	680	c.64+ others(697): Show c.64+11748_64+11749insGGAGAGGGATCTTTCGGGTGAGTGGTGG GGGGGGATGGGGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGAAGA GGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAG GTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGT GGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGG AGAGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCT CAGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGT GGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGG TGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCT TTCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGG TGATGGCGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGT GGAGAGGGATCTTTCGGGTGAGTGGTGGTGGCGGGGGTGGAGAGGGATCT CTCAGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGA GTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGG GG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIF25_chr6_167992671_168050091	167997385	G G	GGCGGGGG others(673): Show GGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGATGGCGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGA GATGGGGGCCGGGGGAATCTGCAGAGATGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0149 a0001c0001t0025g0149	1	375	0.0027	680	c.-20 others(691): Show c.-2084_-2083insGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAG AGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCGGGGGAATCTGCAGAG ATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGCCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGCGGGGCGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGCCGGGGGAATCTGCAGAGATGGC	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		285		chr6	TogoVar
KIF3B_chr20_32272651_32340011	32322764	A A	ATATTTAT others(673): Show ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATTTATTTATTTATATATATT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0006 a0001c0001t0009g0006	1	242	0.0041	680	c.174 others(699): Show c.1749-3950_1749-3949insATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATTTATATTTATTTATTTATATATATTTAT TTATATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATAT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
LMF1_chr16_848634_975984	857675	C C	CGGGTGTG others(673): Show CGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGG GTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGT GAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCA GTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGT GGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGG TGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGT CACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCG GGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGA CGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGG GTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGT GCAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCG TGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGAGTGGT GTCTCGGGACGGGTGTGCGTGGTGTCACGGGACGGGTGTGCAGTGGTGTC TCGGGATGGGTGTGCAGTGGTGTCTCGGGAT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18966.hp2 NA19010.hp1 others(1): Show NA18952.hp2 NA18966.hp2 NA19010.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0001t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0178 a0001c0003t0001g0131 a0001c0003t0001g0250 others(1): Show a0001c0001t0001g0178 a0001c0003t0001g0131 a0001c0003t0001g0250 a0001c0004t0001g0089	4	294	0.0136	680	c.153 others(699): Show c.1530-2970_1530-2969insATCCCGAGACACCACTGCACACCCAT CCCGAGACACCACTGCACACCCGTCCCGTGACACCACGCACACCCGTCCC GAGACACCACTCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGA CACCACGCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAGACACC ACTGCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACT CACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTGCAC ACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTCACACC CGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTC CCGTGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCG AGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTG ACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGAC ACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACAC CACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACT CACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCAC ACCC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857705	G G	GAGTGGTG others(673): Show GAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGT GTCACGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGT CTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCT CGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCG GGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGAC GGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTG CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGT GTCTCGGGACGGGTGTGCGTGGTGTCACGGGACGGGTGTGCAGTGGTGTC TCGGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCACGGGATG GGTGTGCAGTGGTGTCTCGGGATGGGTGTGC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0016	a0001c0004t0016g0025 a0001c0004t0016g0025	1	294	0.0034	680	c.153 others(699): Show c.1530-3000_1530-2999insGCACACCCATCCCGAGACACCACTGC ACACCCATCCCGTGACACCACGCACACCCGTCCCGAGACACCACTCACAC CCGTCCCGAGACACCACGCACACCCGTCCCGAGACACCACGCACACCCGT CCCGAGACACCACTGCACACCCGTCCCGTGACACCACGCACACCCGTCCC GAGACACCACTGCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAG ACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACAC CACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCA CTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACC CGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCG TCCCGAGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTC CCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCC GTGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAG ACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACAC CACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LRGUK_chr7_134122340_134269595	134190878	A A	AAAGCAGT others(673): Show AAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGA TAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGC GGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGG GATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGA GCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTG GGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTT GAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTC TGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAG TTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGT TCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGT AGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCA GTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACA GTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAG CAGTTCTGGGGATAGACAGTAGTTGAGCGGT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0110 a0001c0003t0003g0110	1	220	0.0046	680	c.133 others(697): Show c.1335-709_1335-708insAAGCAGTTCTGGGGATAGACAGTAGTTG AGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCT GGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGT TGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTT CTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTA GTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAG TTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAG TAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGC AGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGAC AGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAA GCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAG ACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGT AAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGAT AGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCG GT	LRGUK	ENSG00000155530.4	transcript	ENST00000285928.3	protein_coding	11/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
LRRC24_chr8_144517388_144532033	144531191	A A	AGAGCAGC others(673): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACAT AGCAGGCACAGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGG GCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGT GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCA GCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGG CAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAG GGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCA CGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACA TAGCAGGCACGGCAGAAGGGCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp2 NA19090.hp2 NA18974.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	398	0.0050	680	c.-42 others(691): Show c.-4292_-4291insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCTGTGCCTGCTATG TCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTG CCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCG TGCCTGCTGTGTCCAGTCCACACCCCACCTGCTGCTCCCTGCCCTGTGCC CTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTC	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4159		chr8	TogoVar
LRRC27_chr10_132327193_132386508	132364533	A A	ACTTACAT others(673): Show ACTTACATCTACCTCCACACCCACACTTACACCCACACTTACATCTACCT CCACACCCACACTTACACCCACCCACACTTACACCCACGCTTACATCTAC CTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCT ACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACAT CTACCTCCACACCCACACTTACACCCACCCACACTTACACCCACGCTTAC ATCTACCTCCACACCCACACTTACACCCACGCTTACATCTACCTCCACAC CCGCGCTTACACCCACCCACACTTACACCCACGCTTACATCTACCTCCAC GCCCACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCC ACACCCACACTCACACCCACCCACACTTACACCCACCCTTACATCTACCT CCACACCCACACTCACACCCACCCACACTTACACCCACCCACACTTACAC CCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTAC ACCCACGCTTACATCTACCTCCACGCCCACACTTACACTCATGCTTACAT CTACCTCCACACCCGCGCTTACACCCACGCTTACATCTACCTCCACACCC ACACTCACACCCACCCACACTTACACCCACG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	290	0.0035	680	c.129 others(697): Show c.1290-887_1290-886insCATCTACCTCCACACCCACACTTACACC CACACTTACATCTACCTCCACACCCACACTTACACCCACCCACACTTACA CCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTA CACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACT TACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCACCCACA CTTACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCACGCT TACATCTACCTCCACACCCGCGCTTACACCCACCCACACTTACACCCACG CTTACATCTACCTCCACGCCCACACTTACACCCACCCACACTTACACCCA CCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACC CACCCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACA CCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCA CACCCACCCACACTTACACCCACGCTTACATCTACCTCCACGCCCACACT TACACTCATGCTTACATCTACCTCCACACCCGCGCTTACACCCACGCTTA CATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGCT TA	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MERTK_chr2_111893607_112034561	111944498	A A	AATTCCTT others(673): Show AATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAAT TCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAAGTATTCC TTAAAATAATTCCTCTGTTTTAAGGAAGTATTCCTTAAAATAATTCCTCT GTTTTAAGGAAGTATTCCTTAAAATAATTCCTCTGTTTTAAGGAAGTATT CCTTAAAATAATTCCTCTGTTTTAAGGAATT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	288	0.0035	680	c.483 others(695): Show c.483-427_483-426insTTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCC TTAAAATAATTCCTCTGTTTTAAGGAAGTATTCCTTAAAATAATTCCTCT GTTTTAAGGAAGTATTCCTTAAAATAATTCCTCTGTTTTAAGGAAGTATT CCTTAAAATAATTCCTCTGTTTTAAGGAAGTATTCCTTAAAATAATTCCT CTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTA	MERTK	ENSG00000153208.19	transcript	ENST00000295408.9	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
MERTK_chr2_111893607_112034561	111944498	A A	AATTCCTT others(673): Show AATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAAT TCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCC TTAAAATAATTCCTCTGTTTTAAGGAAGTATTCCTTAAAATAATTCCTCT GTTTTAAGGAAGTATTCCTTAAAATAATTCCTCTGTTTTAAGGAAGTATT CCTTAAAATAATTCCTCTGTTTTAAGGAATT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02129.hp2 HG02135.hp2 HG02056.hp2 HG02129.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0214 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0214	3	288	0.0104	680	c.483 others(695): Show c.483-427_483-426insTTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCC TTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCT GTTTTAAGGAAGTATTCCTTAAAATAATTCCTCTGTTTTAAGGAAGTATT CCTTAAAATAATTCCTCTGTTTTAAGGAAGTATTCCTTAAAATAATTCCT CTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTA	MERTK	ENSG00000153208.19	transcript	ENST00000295408.9	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
MERTK_chr2_111893607_112034561	111944498	A A	AATTCCTT others(673): Show AATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAAT TCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCC TTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCT GTTTTAAGGAAGTATTCCTTAAAATAATTCCTCTGTTTTAAGGAAGTATT CCTTAAAATAATTCCTCTGTTTTAAGGAAGT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	288	0.0035	680	c.483 others(695): Show c.483-427_483-426insTTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCC TTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCT GTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAAGTATT CCTTAAAATAATTCCTCTGTTTTAAGGAAGTATTCCTTAAAATAATTCCT CTGTTTTAAGGAAGTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTA	MERTK	ENSG00000153208.19	transcript	ENST00000295408.9	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
MERTK_chr2_111893607_112034561	111944498	A A	AATTCCTT others(673): Show AATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAAT TCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCC TTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCT GTTTTAAGGAAGTATTCCTTAAAATAATTCCTCTGTTTTAAGGAAGTATT CCTTAAAATAATTCCTCTGTTTTAAGGAATT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02602.hp1 HG00733.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0144 a0001c0001t0001g0109 a0001c0001t0001g0144	2	288	0.0069	680	c.483 others(695): Show c.483-427_483-426insTTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCC TTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCT GTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAAGTATT CCTTAAAATAATTCCTCTGTTTTAAGGAAGTATTCCTTAAAATAATTCCT CTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTA	MERTK	ENSG00000153208.19	transcript	ENST00000295408.9	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
MERTK_chr2_111893607_112034561	111944498	A A	AATTCCTT others(673): Show AATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAAT TCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCC TTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCT GTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATT CCTTAAAATAATTCCTCTGTTTTAAGGAATT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01069.hp2 HG01071.hp1 others(17): Show HG00099.hp1 HG01069.hp2 HG01071.hp1 HG01106.hp2 HG01884.hp1 HG02015.hp2 HG02451.hp2 HG02559.hp2 HG02615.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02895.hp1 HG02970.hp1 HG03516.hp1 HG03669.hp1 HG04184.hp2 NA18522.hp1 NA18906.hp1 NA19043.hp1	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0013	a0002c0002 a0003c0003 a0005c0005 others(1): Show a0002c0002 a0003c0003 a0005c0005 a0013c0019	a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 others(2): Show a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0005c0005t0003 a0013c0019t0001	a0002c0002t0001g0004 a0002c0002t0001g0151 a0002c0002t0001g0152 others(17): Show a0002c0002t0001g0004 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0002g0230 a0002c0002t0002g0235 a0002c0002t0002g0245 a0002c0002t0002g0253 a0002c0002t0002g0266 a0002c0002t0002g0267 a0003c0003t0001g0019 a0003c0003t0001g0046 a0003c0003t0001g0047 a0005c0005t0003g0002 a0005c0005t0003g0005 a0005c0005t0003g0006 a0005c0005t0003g0010 a0005c0005t0003g0012 a0013c0019t0001g0015	20	288	0.0694	680	c.483 others(695): Show c.483-427_483-426insTTCCTTAAAATAATTCCTCTGTTTTAAGGA ATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATA ATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAG GAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAA TAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTA AGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAA AATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTT TAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTT AAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGT TTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCC TTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCT GTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTATT CCTTAAAATAATTCCTCTGTTTTAAGGAATTATTCCTTAAAATAATTCCT CTGTTTTAAGGAATTATTCCTTAAAATAATTCCTCTGTTTTAAGGAATTA	MERTK	ENSG00000153208.19	transcript	ENST00000295408.9	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr2	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(673): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAA GGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGG GAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCAGGGGGAAGGGGGAAAGGG GTGGGGGGAAAGGGGGAAGGGGAAAGGGGTGAGGGGAAAGGGGGAAGGGG GAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGGAGGG GAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGAG GGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGG GGAAGGGAGGGGGGAGGGGAGGGGGAGGGAAGAGGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGGGGGAAGGGAGGGGGGAGGGGAGGGGGAGGGAAGA GGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGGGAGGGAAGG GAGGGAGGGGAGGGGGAGGGAGGGGAGGGAGGGGAGGGGGAGGGAGGGGA GGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAG GGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGA GGGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA19074.hp2 NA18962.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0008 a0001c0001t0010g0009 a0001c0001t0010g0008 a0001c0001t0010g0009	2	272	0.0074	680	c.250 others(695): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCCTCCCTCCCCCTCCCCTCCCT CCCTTCCCTCCCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCC CTCTTCCCTCCCCCTCCCCTCCCCCCTCCCTTCCCCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCCTCTTCCCTCCCCCTCCCCTCCCCCCTCCCTTC CCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCACCCCTTT CCCCCTTCCCCCTTTCCCCTCACCCCTTTCCCCTTCCCCCTTTCCCCCCA CCCCTTTCCCCCTTCCCCCTGCCCCTTTTCCCCCCTTCCCCGCCCCTTTT CCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTC CTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(673): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCC CTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCC CGTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCTCCCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCCT CCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCTCCTCCCCTCCTCCC CTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCT CCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCAT CCCCTCCTCCCCTCCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	140	0.0071	680	c.114 others(699): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTC TTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCT CTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTCT CCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCCCTCCTCCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCT CCCCTCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTC CCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTC CTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCT CCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTC CCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYT1L_chr2_1784113_2336275	2295635	C C	CAGAGAGA others(673): Show CAGAGAGAGACAGACAGAGAGAGAGAGATAGAGAGACAGACAGACAGAGA GAGAGAGAGAGACAGACAGACAGAGAGAGAGAGACAGACAGACAGAGAGA GACAGACAGAGAGAGAGAGATAGAGAGACAGACAGACAGAGAGAGAGAGA GAGACAGACAGACAGAGAGAGAGAGAGAGAGAGACAGACAGACAGAGAGA GAGAGAGAGACAGACAGACAGAGAGAGACAGACAGAGAGAGAGAGATAGA GAGACAGACAGACAGAGAGAGAGAGAGAGACAGACAGACAGAGAGAGACA GACAGAGAGAGAGAGATAGAGAGACAGACAGACAGAGAGAGAGAGAGAGA CAGACAGACAGAGAGAGAGAGAGAGAGAGACAGACAGACAGAGAGAGAGA GAGAGACAGACAGACAGAGAGAGACAGACAGAGAGAGAGAGATAGAGAGA CAGACAGACAGAGAGAGAGAGAGAGACAGACAGACAGAGAGAGAGAGAGA GAGAGACAGACAGACAGAGAGAGAGAGAGAGACAGACAGACAGAGAGAGA CAGACAGAGAGAGAGAGATAGAGAGACAGACAGACAGAGAGAGAGAGAGA GACAGACAGACAGAGAGAGAGAGATAGAGAGACAGACAGACAGAGAGAGA GAGAGACAGACAGACAGAGAGAGACAGACAG	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA20129.hp2 HG06807.hp2 NA20129.hp2	a0001 a0001	a0001c0005 a0001c0009 a0001c0005 a0001c0009	a0001c0005t0011 a0001c0009t0006 a0001c0005t0011 a0001c0009t0006	a0001c0005t0011g0074 a0001c0009t0006g0075 a0001c0005t0011g0074 a0001c0009t0006g0075	2	104	0.0192	680	c.-52 others(701): Show c.-520-11133_-520-11132insCTGTCTGTCTCTCTCTGTCTGTCT GTCTCTCTCTCTCTCTGTCTGTCTGTCTCTCTATCTCTCTCTCTCTGTCT GTCTGTCTCTCTCTCTCTCTCTGTCTGTCTGTCTCTCTATCTCTCTCTCT CTGTCTGTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTCTGTCTGTCT GTCTCTCTCTCTCTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTCTGT CTGTCTGTCTCTCTATCTCTCTCTCTCTGTCTGTCTCTCTCTGTCTGTCT GTCTCTCTCTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTCTCTCTGT CTGTCTGTCTCTCTCTCTCTCTCTGTCTGTCTGTCTCTCTATCTCTCTCT CTCTGTCTGTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTCTGTCTGT CTGTCTCTCTATCTCTCTCTCTCTGTCTGTCTCTCTCTGTCTGTCTGTCT CTCTCTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTCTCTCTGTCTGT CTGTCTCTCTCTCTCTCTCTGTCTGTCTGTCTCTCTATCTCTCTCTCTCT GTCTGTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTGTCTGTCTGTCTCT CTCTCTCTCTCTGTCTGTCTGTCTCTCTATCTCTCTCTCTCTGTCTGTCT CTCTCT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	1/24			chr2	TogoVar
NFATC1_chr18_79390930_79534323	79532268	T T	TCGGCAGA others(673): Show TCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGACC CTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCC TCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCC TCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCTCGGCAGACC CTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0187 a0002c0002t0003g0187	1	322	0.0031	680	c.46 others(691): Show c.4691_*4692insCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTT GCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCT GCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2946		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532308	C C	CCGGCAGA others(673): Show CCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGT CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCC TCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTC CTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCC TCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0041 a0001c0001t0006g0041	1	322	0.0031	680	c.47 others(691): Show c.4731_*4732insCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGTCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTT GCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCTCGGC AGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTT GCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2986		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532331	C C	CTGCAGCC others(673): Show CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTC TTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGACCCTC CTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTC TTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCC CCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTC TTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0235 a0002c0002t0001g0235	1	322	0.0031	680	c.47 others(691): Show c.4754_*4755insTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCC CCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCTCTTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGA CCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		3009		chr18	TogoVar
NLRP4_chr19_55831540_55886855	55850164	A A	AATTTCCG others(673): Show AATTTCCGAGACTGTGGTGTAATTTCCGTAGCTGTGGTGTGATTTCCGAG ACTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGT GATTTCCGTAGCTGCGGTGTGATTTCCGAGACTGCGGTGGAATTTCCGAG ACTGCGGTGGAATTTCCGAGACTGCGGTGGAATTTCCGAGACTGCGGTGT AATTTCCGTGGCTGCGGTGTAATTTCCGTGGCTGCGGTGTAATTTCCGAG GCTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGT GATTTCTGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAG ACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGT GATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAG ACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGT GATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGTA GCTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGT GATTTCCGAGACTGCGGTGGGATTTCCGTGACTGCGGTGGGATTTCCGTG ACTGCGGTGGGATTTCCGTGGCTGCGGTGGG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0235 a0001c0005t0001g0235	1	424	0.0024	680	c.-65 others(697): Show c.-65-1845_-65-1844insAGACTGTGGTGTAATTTCCGTAGCTGTG GTGTGATTTCCGAGACTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTC CGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGAGACTGCG GTGGAATTTCCGAGACTGCGGTGGAATTTCCGAGACTGCGGTGGAATTTC CGAGACTGCGGTGTAATTTCCGTGGCTGCGGTGTAATTTCCGTGGCTGCG GTGTAATTTCCGAGGCTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTC CGAGACTGCGGTGTGATTTCTGAGACTGCGGTGTGATTTCCGAGACTGCG GTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTC CGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCG GTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTC CGAGACTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCG GTGTGATTTCCGTAGCTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTC CGAGACTGCGGTGTGATTTCCGAGACTGCGGTGGGATTTCCGTGACTGCG GTGGGATTTCCGTGACTGCGGTGGGATTTCCGTGGCTGCGGTGGGATTTC CG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NOL4L_chr20_32438059_32590333	32563163	G G	GGGTGGAG others(673): Show GGGTGGAGGGAGGGAGAGTGGAGTGCAGGGAGGGTGGAGGGAGGGAGAGT GGGGAGGGAGGGTAGAAGGTAAGGAGGGTGGAGGGGAGGGAGGGAGAGTG GAAGGCAGGGAGGGTGGAGGGAGGGAGGGTGGGGAGGGAGGATGGAGGAC AGGGAGGGTGGGGAGGGAGGGTGGAGGGAGAGTGGGGAGGGCAGGGAGGG TGGAGGGGGGGAAAGTGGGGAGGGAGGGTGGAGGGCAGGGAGGATGGAGG GAGGGAGAGTGGGGAAGGTGGAGGGGAGGGAGGGAGGAAGGCAGGGGGGG AGGGAGGGAGAGTGGGGAGGGTGGAGGGGAGGGAGGGTGGAGGGAGGGAG AGTGGGGAGGGTGGAGGGCAGGGAGGAGGGAGGAGGGGAGGGAGGGAGAG TGGGGAGGGTGGAGGGCAGGGAGGGTGGAGGGCAGGGAGGATGGAGGGAG GGAGAGTGGGGAGGGTGGAGGGCAGGGAGTGGGGAGGGAGGGACAGTGGG GAGGTTGGAGGGGAGGGAGGGTGGAGGGCAGGGAGGGTGGAGAGCAGGGA GGGTGGGGAGGGAGGGTGGAGGGAAGGAGAGTGGGGAGGGAGGGAGAGTG GAGAGGGAGGGTGGAGGGGAAGGAGGGTGGAGGGAGGGAGAGTGGGGAAG GTGGAGGGGAGGGAGGGTGGAGGGCAGGGAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0061 a0001c0003t0009g0061	1	196	0.0051	680	c.321 others(699): Show c.321+21406_321+21407insATCCCTGCCCTCCACCCTCCCTCCCC TCCACCTTCCCCACTCTCCCTCCCTCCACCCTCCTTCCCCTCCACCCTCC CTCTCCACTCTCCCTCCCTCCCCACTCTCCTTCCCTCCACCCTCCCTCCC CACCCTCCCTGCTCTCCACCCTCCCTGCCCTCCACCCTCCCTCCCCTCCA ACCTCCCCACTGTCCCTCCCTCCCCACTCCCTGCCCTCCACCCTCCCCAC TCTCCCTCCCTCCATCCTCCCTGCCCTCCACCCTCCCTGCCCTCCACCCT CCCCACTCTCCCTCCCTCCCCTCCTCCCTCCTCCCTGCCCTCCACCCTCC CCACTCTCCCTCCCTCCACCCTCCCTCCCCTCCACCCTCCCCACTCTCCC TCCCTCCCCCCCTGCCTTCCTCCCTCCCTCCCCTCCACCTTCCCCACTCT CCCTCCCTCCATCCTCCCTGCCCTCCACCCTCCCTCCCCACTTTCCCCCC CTCCACCCTCCCTGCCCTCCCCACTCTCCCTCCACCCTCCCTCCCCACCC TCCCTGTCCTCCATCCTCCCTCCCCACCCTCCCTCCCTCCACCCTCCCTG CCTTCCACTCTCCCTCCCTCCCCTCCACCCTCCTTACCTTCTACCCTCCC TCCCCACTCTCCCTCCCTCCACCCTCCCTGCACTCCACTCTCCCTCCCTC CACC	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
NOTCH1_chr9_136489433_136551048	136528441	A A	AGGGGGGG others(673): Show AGGGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACAGTGAG GGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGC AGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGAC AGTGAGGGGGATGGGCAAGGACAGTGGGGGGTGGGCAGGGACAGTGGGGC GATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGG CAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGGGATGGGCAGGGA CAGTGCGGGGGGGATGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACAG TGAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGG ATGGGCAGGGACAGTGCGGGGGGGATGGGCAGGGACAGTGGGGGGGGATG GGCAGGGACAGTGGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAG GGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGG GGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGAGGGGGA TGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCAG GGACAGTGCGGGGGGGATGGGCAGGGACAGT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0124 a0001c0002t0006g0124	1	324	0.0031	680	c.141 others(697): Show c.141-4463_141-4462insACTGTCCCTGCCCATCCCCCCCGCACTG TCCCTGCCCATCCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGC CCATCCCCCTCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCC CCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCACCCCCCACTG TCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCT GCCCATCCCCCCCCACTGTCCCTGCCCATCCCCCCCGCACTGTCCCTGCC CATCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCC TCACTGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCATCCCCCCCGCA CTGTCCCTGCCCATCCCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCC CTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCC ATCGCCCCACTGTCCCTGCCCACCCCCCACTGTCCTTGCCCATCCCCCTC ACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTC CCTGCCCACCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATC CCCCTCACTGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCC CC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136528441	A A	AGGGGGGG others(673): Show AGGGGGGGATGGGCAGGGACGGTGAGGGGGGGGATGGGCAGGGACAGTGA GGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGG CAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGA CAGTGAGGGGGATGGGCAAGGACAGTGGGGGGTGGGCAGGGACAGTGGGG CGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGG GCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCAGGGA CAGTGCGGGGGGGATGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACAG TGAGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGG ATGGGCAGGGACAGTGCGGGGGGGATGGGCAGGGACAGTGGGGGGGGATG GGCAGGGACAGTGGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAG GGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGG GGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGAGGGGGA TGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCAG GGACAGTGCGGGGGGGATGGGCAGGGACAGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0076 a0001c0002t0005g0076	1	324	0.0031	680	c.141 others(697): Show c.141-4463_141-4462insACTGTCCCTGCCCATCCCCCCCGCACTG TCCCTGCCCATCCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGC CCATCCCCCTCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCCCATCC CCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCACCCCCCACTG TCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCT GCCCATCCCCCCCCACTGTCCCTGCCCATCCCCCCCGCACTGTCCCTGCC CATCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCC TCACTGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCATCCCCCCCGCA CTGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCACCCCCCACTGTCCC TGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCA TCGCCCCACTGTCCCTGCCCACCCCCCACTGTCCTTGCCCATCCCCCTCA CTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCC CTGCCCACCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCC CCCTCACTGTCCCTGCCCATCCCCCCCCTCACCGTCCCTGCCCATCCCCC CC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(673): Show TCCTCTCCTCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCTCC CACCCTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCC TTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCC CTCTCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCT TCCCCTTCCCTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0169 a0001c0001t0021g0169	1	326	0.0031	680	c.433 others(697): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGGAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGAAGGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAGG GTGGGAGGGGAGGGGAGGGGAGAGGAGGGGAGAGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGAGGAGA GG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NUP93_chr16_56725129_56855286	56739406	A A	AACCTCCC others(673): Show AACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCG GCTGGCCGGGCGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGA CCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCCGAC ATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCC CCCCCACCTCCCTCCCGGACAGGGCAGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGG GGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0012 a0001c0001t0013g0012	1	378	0.0027	680	c.-14 others(697): Show c.-14-8753_-14-8752insGCCCCTCACCTCCCAGACGGGGCGGCTG GCCGGGCGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCC CCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCCGACATCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCCC CACCTCCCTCCCGGACAGGGCAGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTG GCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GC	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56739406	A A	AACCTCCC others(673): Show AACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCG GCTGGCCGGGCGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGA CCCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCCGAC ATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCC CCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGG GGTGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03225.hp1 HG03041.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0013 a0001c0001t0013g0014 a0001c0001t0013g0013 a0001c0001t0013g0014	2	378	0.0053	680	c.-14 others(697): Show c.-14-8753_-14-8752insGCCCCTCACCTCCCAGACGGGGCGGCTG GCCGGGCGGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCC CCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCCGACATCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCCC CACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTG GCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GC	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(673): Show AGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCGAGCCGCCCCGTCCGG GAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGG GGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGC CCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCC CAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTC AGCCCCCTGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCA GCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	155	0.0065	680	c.155 others(699): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCAGG GGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGGG GCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCG GACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGG ACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCC CCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTC ACCTCCCGGACGGGGCGGCTCGCCGGGCGGGGGGCTGACCCCCCCCCACC TCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
PCBP3_chr21_45638725_45947450	45909792	C C	CCCCCCCC others(673): Show CCCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCCA GATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCGCCCA CTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCC CCGCCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGG ACCCCCTCCACCCACTGCCCAGATACGGACCCCCCCCCCGCCCACTGCCC AGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCTGGCCACCCAC TGCCCAGATACGGACCCGGCCACCCACTGCCCAGATACAGACCCGGCCCA CCCACTGCCCAGATATGGACCCCCCCAACCCACTTCCCAGATATGGACCC CCCCAACCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCCAGATAC GGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCC CAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCGGCCACCC ACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCGG CCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGG ACCCCCCCCCCGCCCACTGCCCAGATACGGA	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0270 a0001c0001t0002g0270	1	292	0.0034	680	c.471 others(695): Show c.471+314_471+315insCACCCACTGCCCAGATACGGACCCCCCCCG CCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACC CCCCCCGCCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGAT ACGGACCCCCCCCGCCCACTGCCCAGATACGGACCCCCCCCCACCCACTG CCCAGATACGGACCCCCTCCACCCACTGCCCAGATACGGACCCCCCCCCC GCCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACC TGGCCACCCACTGCCCAGATACGGACCCGGCCACCCACTGCCCAGATACA GACCCGGCCCACCCACTGCCCAGATATGGACCCCCCCAACCCACTTCCCA GATATGGACCCCCCCAACCCACTGCCCAGATACGGACCCCCCCCGCCCAC TGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCCC CGCCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGA CCCGGCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGA TACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTG CCCAGATACGGACCCCCCCCCCGCCCACTGCCCAGATACGGACCCCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar

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Search Results (Total: 10000 hits)