Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ULK4_chr3_41241599_41967103	41890968	A A	AGAAGGGA others(525): Show AGAAGGGACGGGAGGGGGAAAGAAGGGACGGGAGGGGGAAAGAAGGGATG GGAGCGGGGAAGGAAGGGACGGGAGCGGGGAAGAAAGGGACGGGAGCGGG GAAGGAAGGGACGGGAGGGGGAAAGAAGGGACAGAAGGGGGAAGGAAGGG ACGGGAGCGGGGAAGGAAGGGACGGGAGGGGGAAGGAAGGGACGGGAGCG GGGAAGGAAGGGACGGGAGCGGGGAAGGAAGGGACGGGAGGGGGAAGGAA GGGACGGGAGGGGGAAAGAAGGGACGGGAGGGGGAAAGAAGGGACGGGAG GGGGAAAGAAGGGACGGGAGGGGGAAAGAAGGGATGGGAGCGGGGAAGGA AGGGACGGGAGCGGGGAAGAAAGGGACGGGAGCGGGGAAGGAAGGGACGG GAGGGGGAAAGAAGGGACAGAAGGGGGAAGGAAGGGACGGGAGCAGGGAA GGAAGGGACGGGAGCGGGGAAGGAAGGGACGGGAGGGGGAAGGAAGGGAC GGGAGGGGGGAAGGAAGGGACGGGAGGGGGAAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0015 a0015	a0015c0015 a0015c0015	a0015c0015t0001 a0015c0015t0001	a0015c0015t0001g0005 a0015c0015t0001g0005	1	72	0.0139	532	c.157 others(551): Show c.1577+4549_1577+4550insCTTCCCCCTCCCGTCCCTTCCTTCCC CCCTCCCGTCCCTTCCTTCCCCCTCCCGTCCCTTCCTTCCCCGCTCCCGT CCCTTCCTTCCCTGCTCCCGTCCCTTCCTTCCCCCTTCTGTCCCTTCTTT CCCCCTCCCGTCCCTTCCTTCCCCGCTCCCGTCCCTTTCTTCCCCGCTCC CGTCCCTTCCTTCCCCGCTCCCATCCCTTCTTTCCCCCTCCCGTCCCTTC TTTCCCCCTCCCGTCCCTTCTTTCCCCCTCCCGTCCCTTCTTTCCCCCTC CCGTCCCTTCCTTCCCCCTCCCGTCCCTTCCTTCCCCGCTCCCGTCCCTT CCTTCCCCGCTCCCGTCCCTTCCTTCCCCCTCCCGTCCCTTCCTTCCCCG CTCCCGTCCCTTCCTTCCCCCTTCTGTCCCTTCTTTCCCCCTCCCGTCCC TTCCTTCCCCGCTCCCGTCCCTTTCTTCCCCGCTCCCGTCCCTTCCTTCC CCGCTCCCATCCCTTCTTTCCCCCTCCCGTCCCTTCTTTCCCCCTCCCGT CCCTTC	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	16/36			chr3	TogoVar
UMAD1_chr7_7635752_7884223	7679116	G G	GTTTATAA others(525): Show GTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATA TTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTA TATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATA TTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAATA TATATTTATATATTTAGTTTATAAATATATATTTATTTATTTAGTTTATA AATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATA AATACATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATA AATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATA AATACATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTT TATAAATACATATTTATATATTTAGTTTATAAATATATATTTATATATTT AATTTATAGATAAATATATATTTATATATTTAA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0243 a0001c0001t0030g0243	1	250	0.0040	532	c.82+ others(547): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGT TTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATT TAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATT TATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATATTTACA TATTTAGTTTATAAATACATATTTATTTAGTTTATAAATACATATTTACA TATTTAGTTTATAAATATTTACATATTTAGTTTATAAATACATATTTACA TATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATT TATATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATATA TATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTA TA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679116	G G	GTTTATAA others(525): Show GTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATA TTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTA TATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATA TTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAATA TATATTTATATATTTAGTTTATAAATATATATTTATTTATTTAGTTTATA AATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATA AATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATA AATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATA AATACATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTT TATAAATACATATTTATATATTTAGTTTATAAATATATATTTATATATTT AATTTATAGATAAATATATATTTATATATTTAA	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0244 a0001c0001t0022g0244	1	250	0.0040	532	c.82+ others(547): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGT TTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATT TAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATT TATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATATTTACA TATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATATTTACA TATTTAGTTTATAAATATTTACATATTTAGTTTATAAATACATATTTACA TATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATT TATATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATATA TATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTA TA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679116	G G	GTTTATAA others(525): Show GTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATA TTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTA TATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATA TTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATA TATATTTATATATTTAGTTTATAAATATATATTTACTTATTTAGTTTATA AATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATA AATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATA AATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATA AATACATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTT TATAAATACATATTTATATATTTAGTTTATAAATATATATTTATATATTT AATTTATAGATAAATATATATTTATATATTTAA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0246 a0001c0001t0031g0246	1	250	0.0040	532	c.82+ others(547): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGT TTATAAACATATATTTATATATTTAGTTTATAAATATATATTTATATATT TAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTACT TATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATATTTACA TATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATATTTACA TATTTAGTTTATAAATATTTACATATTTAGTTTATAAATACATATTTACA TATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATT TATATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATATA TATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTA TA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679116	G G	GTTTATAA others(525): Show GTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATA TTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTA TATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATA TTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATA TATATTTATATATTTAGTTTATAAATATATATTTATTTATTTAGTTTATA AATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATA AATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATA AATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATA AATACATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTT TATAAATACATATTTATATATTTAGTTTATAAATATATATTTATATATTT AATTTATAGATAAATATATATTTATATATTTAA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG03486.hp1 HG01975.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0076 a0001c0001t0018 a0001c0001t0076	a0001c0001t0018g0180 a0001c0001t0076g0218 a0001c0001t0018g0180 a0001c0001t0076g0218	2	250	0.0080	532	c.82+ others(547): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGT TTATAAACATATATTTATATATTTAGTTTATAAATATATATTTATATATT TAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATT TATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATATTTACA TATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATATTTACA TATTTAGTTTATAAATATTTACATATTTAGTTTATAAATACATATTTACA TATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATT TATATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATATA TATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTA TA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
VIPR2_chr7_159023175_159149867	159088856	A A	AGCTCCTC others(525): Show AGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCT GTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAA TAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCC TCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCAT CTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGG AATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGG CCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTC ATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATG GGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCA GGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCC TCATCTGTGGAATGGGAATAGCCTCAGGCCTCG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02735.hp1 HG03834.hp1 others(5): Show HG01975.hp1 HG02735.hp1 HG03834.hp1 HG04184.hp2 NA18939.hp1 NA18964.hp2 NA18984.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0009 a0001c0001t0001 a0001c0002t0002 a0001c0002t0009	a0001c0001t0001g0052 a0001c0002t0002g0009 a0001c0002t0002g0224 others(5): Show a0001c0001t0001g0052 a0001c0002t0002g0009 a0001c0002t0002g0224 a0001c0002t0002g0240 a0001c0002t0002g0260 a0001c0002t0002g0280 a0001c0002t0002g0304 a0001c0002t0009g0258	8	336	0.0238	532	c.357 others(551): Show c.357+14900_357+14901insCGAGGCCTGAGGCTATTCCCATTCCA CAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGC CGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGG CTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTC CACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGA GCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGA GGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCAT TCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAG GAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCT GAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCC ATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATG AGGAGC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(525): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCT CCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCTCCTCTC CCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCC CTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCCTCTCCTCTC CCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCT CCCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCCC TCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCC TCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	246	0.0041	532	c.53- others(545): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCTCTCCTCCCCCTCCCCTCTCCTCCTCTCCCCTCTCCTCCTCTCCCCT CCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCC CTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCCTCT CCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTC TCCTCTCCCCCTCCCCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCC TCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCC TCCCCCTCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTC TCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
ZNF516_chr18_76352682_76500242	76357438	C C	CGTCCCCA others(525): Show CGTCCCCAGCGCAGAGTGGCGTACCCAGCGGAGAGTGGCGTACCCAGCGG AGAGTGGCGTACCCAGCGGAGAGTGGCGTACCCAGCGGAGAGTGGTGTAC CCAGCGGAGAGTGGTGTACCCAGCGGAGAGTGGCGTACCCAGCGGAGAGT GGTGTACCCAGCGGAGAGTGGCGTACCCAGCGGAGAGTGGCGTACCCAGC GGAGAGTGGCGTACCCAGCGGAGAGTGGCGTACCCAGCGGAGAGTGGTGT ACCCAGCGGAGAGTGGCGTACCCAGCGGAGAGTGGTGTACCCAGCGGAGA GTGGTGTACCCAGCGGAGAGTGGTGTACCCAGCGGAGAGTGGCGTACCCA GCGGAGAGTGGTGTACCCAGCGGAGAGTGGCGTACCCAGCGGAGAGTGGC GTACCCAGCGGAGAGTGGCGTACCCAGCGGAGAGTGGCGTACCCAGCGGA GAGTGGCGTCCCCAGCGCAGAGTGGCGTACCCAGCGGAGAGTGGCGTACC CAGCGGAGAGTGGCGTACCCAGCGGAGAGTGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0064 a0004c0017t0064	a0004c0017t0064g0014 a0004c0017t0064g0014	1	346	0.0029	532	c.50 others(543): Show c.5059_*5060insACCACTCTCCGCTGGGTACGCCACTCTCCGCTGG GTACGCCACTCTCCGCTGGGTACGCCACTCTGCGCTGGGGACGCCACTCT CCGCTGGGTACGCCACTCTCCGCTGGGTACGCCACTCTCCGCTGGGTACG CCACTCTCCGCTGGGTACGCCACTCTCCGCTGGGTACACCACTCTCCGCT GGGTACGCCACTCTCCGCTGGGTACACCACTCTCCGCTGGGTACACCACT CTCCGCTGGGTACACCACTCTCCGCTGGGTACGCCACTCTCCGCTGGGTA CACCACTCTCCGCTGGGTACGCCACTCTCCGCTGGGTACGCCACTCTCCG CTGGGTACGCCACTCTCCGCTGGGTACGCCACTCTCCGCTGGGTACACCA CTCTCCGCTGGGTACGCCACTCTCCGCTGGGTACACCACTCTCCGCTGGG TACACCACTCTCCGCTGGGTACGCCACTCTCCGCTGGGTACGCCACTCTC CGCTGGGTACGCCACTCTCCGCTGGGTACGCCACTCTGCGCTGGGGAC	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding		243		chr18	TogoVar
ABCC2_chr10_99777640_99857594	99838925	A A	ACCTCCCG others(526): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGC CGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCG GGTGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGACG GGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCTCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCAGGACGGGGCGGCT GGCCGGGCAGGGGGGCAGACCCCCCCCCCACCTC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0054 a0001c0002t0003g0054	1	336	0.0030	533	c.361 others(552): Show c.3614+2677_3614+2678insCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCC CCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC CTACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGACTGACCCCC CCATCTCCCTCCCGGACGGGGTGGCTGGACGGGCTGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCGCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCCGACCCCCTCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCAGGACGGGGCGGCTGGCCGGGCAGGGGGGCAGA CCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCC GACCCCC	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31		INFO_REALIGN_3_PRIME	chr10	TogoVar
ABR_chr17_998519_1184981	1173220	T T	TCAACACA others(526): Show TCAACACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACA CATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACATC ACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTCAC CTCAGTCCACCCCCCCGACATCACCTCAGCCCACCCCCCCCACACATCAC CTCAGTCCACCCAACACATCACCTCAGCCCACCCAACACGTCACCTCAGC CCACCCAACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCACCC CCCGCCCCATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAAC ACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACAT CACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTCA CCTCAGTCCACCCCCCCGACATCACCTCAGCCCACCCCCCCCACACATCA CCTCAGCCCACCCAACACATCACCTCAGCCCACC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0250 a0001c0001t0004g0250	1	337	0.0030	533	c.61+ others(548): Show c.61+6446_61+6447insGGTGGGCTGAGGTGATGTGTTGGGTGGGCT GAGGTGATGTGTGGGGGGGGTGGGCTGAGGTGATGTCGGGGGGGTGGACT GAGGTGACGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGA GGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTG ATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGG CGGGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGG GTGGGCTGAGGTGACGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGAC TGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTGATGTCGGGGGGGTGGAC TGAGGTGACGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTG AGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGT GATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTG TTG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ARHGEF10_chr8_1818926_1963641	1873654	G G	GCCGCGGG others(526): Show GCCGCGGGGTAGTGCACCCGCATTTCCTCGTTGCGTTGAGAGGCGCCCGC GGGGTAGTGCACCCGCATTTCCTAGTTGCCTTGAGAGGTGCCGCGGGGTA GTGCACCCGCATTTCCTCGTTGCGTTGAGAGGCGCCCGCGGGGTAGTGCA CCCGCATTTCCTAGTTGCCTTGAGAGGTGCCGCGGGGTAGTGCACCCGCA TTTCCTCGTTGCGTTGAGAGGCGCCCGCGGGGTAGTGCACCCGCATTTCC TAGTTGCCTTGAGAGGTGCCGCGGGGTAGTGCACCCGCATTTCCTCGTTG CGTTGAGAGGCGCCCGCGGGGTAGTGCATCCGCATTTCCTCGCGTTGAGA GGTACCGCGGGGTAGTGCACCCGCATTTCCTAGTTGCCTTGAGAGGTGCC CGCGGGGTAGTGCACCCGCATTTCCTAGTTGCCTTCAGAGGCGCCCGCGG GGTAGTGCACCCGCATTTCCTCGTTTCGTTGAGAGGTGCCCGCGGGGTAG TGCACCCGCATTTCCTCGTTTCGTTGAGAGGTGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02074.hp1 NA18612.hp1 others(4): Show HG00408.hp2 HG02074.hp1 NA18612.hp1 NA18982.hp1 NA18994.hp1 NA18995.hp2 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0001c0006 a0001c0010 others(3): Show a0001c0005 a0001c0006 a0001c0010 a0001c0036 a0002c0030 a0002c0034	a0001c0005t0001 a0001c0006t0001 a0001c0010t0001 others(3): Show a0001c0005t0001 a0001c0006t0001 a0001c0010t0001 a0001c0036t0002 a0002c0030t0002 a0002c0034t0040	a0001c0005t0001g0078 a0001c0005t0001g0325 a0001c0006t0001g0264 others(4): Show a0001c0005t0001g0078 a0001c0005t0001g0325 a0001c0006t0001g0264 a0001c0010t0001g0275 a0001c0036t0002g0229 a0002c0030t0002g0077 a0002c0034t0040g0074	7	363	0.0193	533	c.680 others(550): Show c.680-2886_680-2885insGCGTTGAGAGGCGCCCGCGGGGTAGTGC ACCCGCATTTCCTAGTTGCCTTGAGAGGTGCCGCGGGGTAGTGCACCCGC ATTTCCTCGTTGCGTTGAGAGGCGCCCGCGGGGTAGTGCACCCGCATTTC CTAGTTGCCTTGAGAGGTGCCGCGGGGTAGTGCACCCGCATTTCCTCGTT GCGTTGAGAGGCGCCCGCGGGGTAGTGCACCCGCATTTCCTAGTTGCCTT GAGAGGTGCCGCGGGGTAGTGCACCCGCATTTCCTCGTTGCGTTGAGAGG CGCCCGCGGGGTAGTGCATCCGCATTTCCTCGCGTTGAGAGGTACCGCGG GGTAGTGCACCCGCATTTCCTAGTTGCCTTGAGAGGTGCCCGCGGGGTAG TGCACCCGCATTTCCTAGTTGCCTTCAGAGGCGCCCGCGGGGTAGTGCAC CCGCATTTCCTCGTTTCGTTGAGAGGTGCCCGCGGGGTAGTGCACCCGCA TTTCCTCGTTTCGTTGAGAGGTGCCCGCGGGGTAGTGCACCCGCATTTCC TCGTT	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ASAP2_chr2_9201812_9410678	9400249	T T	TTCCCCTC others(526): Show TTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGC CCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTTCCCC TCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCT CCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGC CCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCC CTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTG CCCTCCTGCCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGTA CCCCTCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCTGCCCCCTCCCCT CCTGCCCCCTGCCCCCCTCCCCTCCTGCCCCCTCCCTTCCTACCCCCTCC CCTCCTGCCCCCTCCCCTCCTCCCCTCATGCCCTCCTGCCCCCTCCCCTC CTGCCCCCCCTCCCCTCCTCCCCTCCTGCCCCCC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0035 a0001c0004t0005g0035	1	210	0.0048	533	c.273 others(550): Show c.2734+192_2734+193insCTGCCCCCTCCCCTCCTGCCCCCTCCCC TCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCC TTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGC CCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTTCCCC TCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCC TGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCC CTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCT CCTGTACCCCTCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCTGCCCCC TCCCCTCCTGCCCCCTGCCCCCCTCCCCTCCTGCCCCCTCCCTTCCTACC CCCTCCCCTCCTGCCCCCTCCCCTCCTCCCCTCATGCCCTCCTGCCCCCT CCCCTCCTGCCCCCCCTCCCCTCCTCCCCTCCTGCCCCCCTCCCCTCCTG CCCTC	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	25/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATG7_chr3_11267397_11562665	11487507	A A	AGAGGGGC others(526): Show AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACC TCCCTCCCGGACGGGGCGGATGGCCGGGCGGGGGGCTGACACCCCCACCT CCCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGC CCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCAACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCC CCTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGGCTGACCCCCC TATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	292	0.0034	533	c.207 others(554): Show c.2079+60637_2079+60638insGGACGGGGCGGCTGGCCGGGCAGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGATGGCCGGGCGG GGGGCTGACACCCCCACCTCCCTCTCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGCCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCAACCTCCCTC CCGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGG TGGGGGGGGCTGACCCCCCTATCTCCCTCCCGGACGGGGTGGCTGGCCGG GCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487507	A A	AGAGGGGC others(526): Show AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACC TCCCTCCCGGACGGGGCGGATGGCCGGGCGGGGGGCTGACACCCCCACCT CCCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGC CCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCC CCTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGGCTGACCCCCC TATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0106 a0001c0001t0003g0106	1	292	0.0034	533	c.207 others(554): Show c.2079+60637_2079+60638insGGACGGGGCGGCTGGCCGGGCAGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGATGGCCGGGCGG GGGGCTGACACCCCCACCTCCCTCTCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGCCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACACCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCTC CCGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGG TGGGGGGGGCTGACCCCCCTATCTCCCTCCCGGACGGGGTGGCTGGCCGG GCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487507	A A	AGAGGGGC others(526): Show AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACC TCCCTCCCGGACGGGGCGGATGGCCGGGCGGGGGGCTGACACCCCCACCT CCCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGC CCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGC CCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCC TATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	292	0.0034	533	c.207 others(554): Show c.2079+60637_2079+60638insGGACGGGGCGGCTGGCCGGGCAGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGATGGCCGGGCGG GGGGCTGACACCCCCACCTCCCTCTCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGCCCGGGCGGGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACACCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCT CCCGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGG GTGGGGGGGCTGACCCCCCTATCTCCCTCCCGGACGGGGTGGCTGGCCGG GCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11487507	A A	AGAGGGGC others(526): Show AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACC TCCCTCCCGGACGGGGCGGATGGCCGGGCGGGGGGCTGACACCCCCACCT CCCTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGC CCGGGCGGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGATGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGC CCCTCACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCC TATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	292	0.0034	533	c.207 others(554): Show c.2079+60637_2079+60638insGGACGGGGCGGCTGGCCGGGCAGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGATGGCCGGGCGG GGGGCTGACACCCCCACCTCCCTCTCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGCCCGGGCGGGGGGGCCGACCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCAACCTCCCT CCCGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGG GTGGGGGGGCTGACCCCCCTATCTCCCTCCCGGACGGGGTGGCTGGCCGG GCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
B3GAT1_chr11_134373508_134417242	134408642	T T	TTCCAGTG others(526): Show TTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGATTCCAGTGG GGTGAGGAGGGAGGTGGGACAGCCTGCACCGATTCCAGTGGGGTGAGGAG GGAGGTGGGACAGCCTGCACCGATTCCAGTGGGGTGAGGAGGGAGGTGGG ACAGCCTGCACCGATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGC ACCGATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGATTCC AGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGATTCCAGTGGGGTG AGGAGGGAGGTGGGACAGCCTGCACCGACTCCAGTGGGGTGAGGAGGGAG GTGGGACAGCCTCCACCGACTCCAGTGGGGTGAGGAGGGAGGTGGGACAG CCTGCACCGACTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCG ACTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCAGTGATTCCAGTG GGGTGAGGAGGGAGGTGGGACAGCCTGCACCGAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02258.hp1 HG02630.hp1 others(4): Show HG01074.hp2 HG02258.hp1 HG02630.hp1 HG02647.hp1 HG02886.hp1 HG02965.hp2 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0006 a0002c0002t0016 a0002c0002t0001 a0002c0002t0006 a0002c0002t0016	a0002c0002t0001g0219 a0002c0002t0001g0225 a0002c0002t0001g0226 others(4): Show a0002c0002t0001g0219 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0234 a0002c0002t0006g0050 a0002c0002t0006g0051 a0002c0002t0016g0018	7	352	0.0199	533	c.-28 others(552): Show c.-282+3164_-282+3165insGTCGGTGCAGGCTGTCCCACCTCCCT CCTCACCCCACTGGAATCACTGCAGGCTGTCCCACCTCCCTCCTCACCCC ACTGGAGTCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAGTC GGTGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAGTCGGTGGAGGC TGTCCCACCTCCCTCCTCACCCCACTGGAGTCGGTGCAGGCTGTCCCACC TCCCTCCTCACCCCACTGGAATCGGTGCAGGCTGTCCCACCTCCCTCCTC ACCCCACTGGAATCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCACTG GAATCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAATCGGTG CAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAATCGGTGCAGGCTGTC CCACCTCCCTCCTCACCCCACTGGAATCGGTGCAGGCTGTCCCACCTCCC TCCTCACCCCACTGGAATCGGTGCAGGCTGTCCCACCTCCCTCCTCACCC CACTGGA	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5			chr11	TogoVar
B3GAT1_chr11_134373508_134417242	134408642	T T	TTCCAGTG others(526): Show TTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGATTCCAGTGG GGTGAGGAGGGAGGTGGGACAGCCTGCACCGATTCCAGTGGGGTGAGGAG GGAGGTGGGACAGCCTGCACCGATTCCAGTGGGGTGAGGAGGGAGGTGGG ACAGCCTGCACCGATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGC ACCGATTCCAGTGGGGTGAGGAGGGAGGTGGGATAGCCTGCACCGACTCC AGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGATTCCAGTGGGGTG AGGAGGGAGGTGGGACAGCCTGCACCGACTCCAGTGGGGTGAGGAGGGAG GTGGGACAGCCTCCACCGACTCCAGTGGGGTGAGGAGGGAGGTGGGACAG CCTGCACCGACTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCG ACTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCAGTGATTCCAGTG GGGTGAGGAGGGAGGTGGGACAGCCTGCACCGAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0189 a0001c0001t0010g0189	1	352	0.0028	533	c.-28 others(552): Show c.-282+3164_-282+3165insGTCGGTGCAGGCTGTCCCACCTCCCT CCTCACCCCACTGGAATCACTGCAGGCTGTCCCACCTCCCTCCTCACCCC ACTGGAGTCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAGTC GGTGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAGTCGGTGGAGGC TGTCCCACCTCCCTCCTCACCCCACTGGAGTCGGTGCAGGCTGTCCCACC TCCCTCCTCACCCCACTGGAATCGGTGCAGGCTGTCCCACCTCCCTCCTC ACCCCACTGGAGTCGGTGCAGGCTATCCCACCTCCCTCCTCACCCCACTG GAATCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAATCGGTG CAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAATCGGTGCAGGCTGTC CCACCTCCCTCCTCACCCCACTGGAATCGGTGCAGGCTGTCCCACCTCCC TCCTCACCCCACTGGAATCGGTGCAGGCTGTCCCACCTCCCTCCTCACCC CACTGGA	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5			chr11	TogoVar
B3GAT1_chr11_134373508_134417242	134408676	G G	GCACCGAT others(526): Show GCACCGATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGATT CCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGATTCCAGTGGGG TGAGGAGGGAGGTGGGACAGCCTGCACCGATTCCAGTGGGGTGAGGAGGG AGGTGGGACAGCCTGCACCGACTCCAGTGGGGTGAGGAGGGAGGTGGGAC AGCCTGCACCGATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCAC CGATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGACTCCAG TGGGGTGAGGAGGGAGGTGGGACAGCCTCCACCGACTCCAGTGGGGTGAG GAGGGAGGTGGGACAGCCTGCACCGACTCCAGTGGGGTGAGGAGGGAGGT GGGACAGCCTGCACCGACTCCAGTGGAGTGAGGAGGGAGGTGGGACAGCC TGCAGTGATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGAC TCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0223 a0001c0001t0045g0223	1	352	0.0028	533	c.-28 others(552): Show c.-282+3130_-282+3131insGAGGCTGTCCCACCTCCCTCCTCACC CCACTGGAGTCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAA TCACTGCAGGCTGTCCCACCTCCCTCCTCACTCCACTGGAGTCGGTGCAG GCTGTCCCACCTCCCTCCTCACCCCACTGGAGTCGGTGCAGGCTGTCCCA CCTCCCTCCTCACCCCACTGGAGTCGGTGGAGGCTGTCCCACCTCCCTCC TCACCCCACTGGAGTCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCAC TGGAATCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAATCGG TGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAGTCGGTGCAGGCTG TCCCACCTCCCTCCTCACCCCACTGGAATCGGTGCAGGCTGTCCCACCTC CCTCCTCACCCCACTGGAATCGGTGCAGGCTGTCCCACCTCCCTCCTCAC CCCACTGGAATCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGA ATCGGTG	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5			chr11	TogoVar
B3GAT1_chr11_134373508_134417242	134408929	T T	TTCCAGTG others(526): Show TTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGATTCCAGTGG GGTGAGGAGGGAGGTGGGACAGCCTGCACCGACTCCAGTGGGGTGAGGAG GGAGGTGGGACAGCCTCCACCGACTCCAGTGGGGTGAGGAGGGAGGTGGG ACAGCCTGCACCTATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGC ACCGACTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGACTCC AGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACTGATTCCAGTGGGGTG AGGAGGGAGGTGGGACAGCCTGCACCGACTCCAGTGGGGTGAGGAGGGAG GTGGGATAGCCTCCACCTATTCCAGTGGGGTGAGGAGGGAGGTGGGACAG CCTGCACCGACTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCG ACTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCTATTCCAGTG GGGTGAGGAGGGAGGTGGGACAGCCTGCACCGAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02055.hp2 others(2): Show HG01884.hp1 HG01891.hp2 HG02055.hp2 HG03139.hp1 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0001c0001t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0193 a0001c0001t0001g0224 a0001c0001t0003g0191 others(2): Show a0001c0001t0001g0193 a0001c0001t0001g0224 a0001c0001t0003g0191 a0001c0001t0003g0192 a0002c0002t0001g0229	5	352	0.0142	533	c.-28 others(552): Show c.-282+2877_-282+2878insGTCGGTGCAGGCTGTCCCACCTCCCT CCTCACCCCACTGGAATAGGTGCAGGCTGTCCCACCTCCCTCCTCACCCC ACTGGAGTCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAGTC GGTGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAATAGGTGGAGGC TATCCCACCTCCCTCCTCACCCCACTGGAGTCGGTGCAGGCTGTCCCACC TCCCTCCTCACCCCACTGGAATCAGTGCAGGCTGTCCCACCTCCCTCCTC ACCCCACTGGAGTCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCACTG GAGTCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAATAGGTG CAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAGTCGGTGGAGGCTGTC CCACCTCCCTCCTCACCCCACTGGAGTCGGTGCAGGCTGTCCCACCTCCC TCCTCACCCCACTGGAATCGGTGCAGGCTGTCCCACCTCCCTCCTCACCC CACTGGA	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5			chr11	TogoVar
BTBD2_chr19_1980448_2020714	1980761	A A	AGGGAGAG others(526): Show AGGGAGAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGAGGGGGGGGGGCAGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGTGGGGGGGGGGGGGGGTGGGGGGGGGGTGGGGTGGGGGGGGGGGG GGGTGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG AGGGGGGGTGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0149 a0003c0006t0002g0149	1	364	0.0028	533	c.57 others(544): Show c.5726_*5727insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCACCCCCCACCCCCCCT CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCACCC CCCCCCCCCCCCACCCCACCCCCCCCCCACCCCCCCCCCCCCCCACCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCTGCCCCCCCCCCTCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCTCTCCC	BTBD2	ENSG00000133243.10	transcript	ENST00000255608.9	protein_coding		4686		chr19	TogoVar
CACNA1C_chr12_2047987_2702950	2539371	A A	AGGAGGGT others(526): Show AGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTT TCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGA TGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAG GGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGG ACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGA GGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCAT AAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCA GGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTT TAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTT AAGGAGGGTTTCATAAAGATGCAGACAGGGTTTAAGGACTTAAGGAGGGT TTCATAAAGATGCAGGCAGGGTTTAAGGACTTAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0003 a0003	a0003c0023 a0003c0023	a0003c0023t0011 a0003c0023t0011	a0003c0023t0011g0048 a0003c0023t0011g0048	1	104	0.0096	533	c.139 others(554): Show c.1391-10566_1391-10565insTTTCATAAAGATGCAGGCAGGGTT TAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTT AAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGC TTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAG ATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCA GGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAG GACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGG AGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCA TAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGC AGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGACAGGGT TTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACT TAGGGAGGG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1H_chr16_1148106_1226768	1185577	T T	TGGCGGGT others(526): Show TGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGG GTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGG GTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGG CGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCG GAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAGGG GCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGCGT GCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCG GCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0073 a0073	a0073c0125 a0073c0125	a0073c0125t0001 a0073c0125t0001	a0073c0125t0001g0047 a0073c0125t0001g0047	1	338	0.0030	533	c.300 others(550): Show c.300-9376_300-9375insGGCATGCATAGGGCCGGGGGCGGGGTAC GTGGGGGGCGGGCGAGTAGACGGTCAGCGTGCATAGGGCCGGAGGCGGGG TACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCG GGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTGTAGGGGCCGGAGGCG GGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGA GGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGC CGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGTCGGCGTGCGTAG GGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGC GTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGC GTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGT CGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGA CGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CALY_chr10_133319072_133341896	133334411	A A	ATCTGAGG others(526): Show ATCTGAGGGGGGAAGGATCTGAGCGGGGAAGGCTCTGAGGGGGGAAGGCT CTGAGGGGGGAAGGACATGAGGGGGAAGGATCTGAGGGGCGAAGGATCTG AGCGGGGAAGGCTCTGAGGGGGGAAGGCTCTGAGGGGGGAAGGACATGAG GGGGAAGGATCTGAGGGGCGAAGGATCTGAGCGGGGAAGGCTCTGAGGGG GGAAGGCTCTGAGGGGGGAAGGACATGAGGGGGAAGGATCTGAGGGGGGA AGGATCTGAGCGGGGAAGGCTCTGAGGGGGGAAGGCTCTGAGGGGGGAAG GACATGAGGGGGAAGGATCTGAGGGGCGAAGGATCTGAGCGGGGAAGGCT CTGAGGGGGGAAGGCTCTGAGGGGGAAGGACATGAGGGAGAAGGATCTGA AAGGCGAAGGATCTGACGGGGGAAGGATCTGAGCGGGGAAGGCTCTGAGG GGGGAAGGCTCTGAAGGGGAGGCTCTGAGGGGGAAGGACATGAGGGGAAG GATCTGAGGGGCGAAGGATCTGAGCGGGGAAGGC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	250	0.0040	533	c.-21 others(550): Show c.-21+2422_-21+2423insGCCTTCCCCGCTCAGATCCTTCGCCCCT CAGATCCTTCCCCTCATGTCCTTCCCCCTCAGAGCCTCCCCTTCAGAGCC TTCCCCCCTCAGAGCCTTCCCCGCTCAGATCCTTCCCCCGTCAGATCCTT CGCCTTTCAGATCCTTCTCCCTCATGTCCTTCCCCCTCAGAGCCTTCCCC CCTCAGAGCCTTCCCCGCTCAGATCCTTCGCCCCTCAGATCCTTCCCCCT CATGTCCTTCCCCCCTCAGAGCCTTCCCCCCTCAGAGCCTTCCCCGCTCA GATCCTTCCCCCCTCAGATCCTTCCCCCTCATGTCCTTCCCCCCTCAGAG CCTTCCCCCCTCAGAGCCTTCCCCGCTCAGATCCTTCGCCCCTCAGATCC TTCCCCCTCATGTCCTTCCCCCCTCAGAGCCTTCCCCCCTCAGAGCCTTC CCCGCTCAGATCCTTCGCCCCTCAGATCCTTCCCCCTCATGTCCTTCCCC CCTCAGAGCCTTCCCCCCTCAGAGCCTTCCCCGCTCAGATCCTTCCCCCC TCAGA	CALY	ENSG00000130643.9	transcript	ENST00000252939.9	protein_coding	1/5			chr10	TogoVar
CARMIL1_chr6_25274374_25625530	25459268	T T	TTCTTTCT others(526): Show TTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCT TCTTTCTTCTTTCTTTCTTTCTCTTTCTTCTTCTTTCTTTCTTTCTTCTT TCTTTCTTTCTATTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTCTTCCTTCT TCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTTCTTCTTTCTT TCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTCTTCCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTTCTTCTTTC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	186	0.0054	533	c.615 others(550): Show c.615-6604_615-6603insCTTTCTTTCTTTCTTTCTTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTTTCTTTCTTCTTTCTTCTTTCTTTCTTTCTCTTTCTTC TTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTATTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTTCTTTCTTTCTTT CTTTCTTTCTTCTTCCTTCTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTT TCTTTCTTTTCTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTC TCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTC TTTCT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(526): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAAT ATTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATAT TTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTT ATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTA TTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTT TATTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0177 a0001c0001t0003g0177	1	402	0.0025	533	c.80- others(548): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATTT ATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTAT TTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTATTT AATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTT AATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATA TATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATA TATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATA TATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAATA TATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTTATT TATTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATATAAA ATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(526): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCT CCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCC TCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTC CCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	270	0.0037	533	c.162 others(554): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCCTCTTCCTCCTCCTCCCCCTCCTCTTCCTCCTCCTCTTC CTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCC CTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCT TCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(526): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCC CCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCCTCTTCCTCCT CCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCC TCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCCTC CCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02572.hp2 HG01978.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0042 a0001c0001t0017 a0001c0001t0042	a0001c0001t0017g0063 a0001c0001t0042g0024 a0001c0001t0017g0063 a0001c0001t0042g0024	2	270	0.0074	533	c.162 others(554): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCC CTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTCCTCTTCCTCCTCCTCCCCCTCCTCTTCCTCCTCCTCTTC CTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCTTCCC CTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCT TCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(526): Show AAGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCC CCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCC CGCCCGGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGTCAGCACCCC GCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCTCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCTGCCCTGTC CGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGACAGCCGCCCTGTCCGGGAG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	326	0.0031	533	c.737 others(552): Show c.737+19565_737+19566insCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGACAGGGCAGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCC AGTAGAGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCT GGCCAGGCGGGGTGCTGACCCCCCCACCTCCTTCCCGGACGGGGCAGCTG GCCGGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGTGGCTGG CCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCC ACCTCCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGGGG others(526): Show TGAGGGGGATGTGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGGA GGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGGGAGGGGAGGGGAGGGGGA GAGGAGGGGGAGGGGAGAGGGAGAGGAGGGGGAGGGGAGGGGAGGGGAGG GGGAGAGGAGGGGGAGAGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAG GGGAGGGGGAGGGGGAGAGGACGGGGAGGGGGAGGGGGAGAGGACGGGGA GGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGG GGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGG GAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGG GAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0024 a0024	a0024c0038 a0024c0038	a0024c0038t0075 a0024c0038t0075	a0024c0038t0075g0067 a0024c0038t0075g0067	1	126	0.0079	533	c.416 others(554): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCGTCCTCTCCCCCTCCCCCTCCCCGTCCTCTCCCCC TCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCC CTCCTCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCTCTCCCTCTCCCCT CCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCC TCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCAC ATCCCCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
DAP3_chr1_155684091_155744010	155700906	T T	TCTGGGAG others(526): Show TCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGG TCGGCCCCCCGCCCAGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGTGGGTC AGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCTGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0046 a0001c0001t0004g0046	1	288	0.0035	533	c.-7- others(548): Show c.-7-8866_-7-8865insTGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAACCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGTCGGCCCCCCGCCCAGCCAGCCGCCCCATCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGTGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTC AGCCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCC GCC	DAP3	ENSG00000132676.16	transcript	ENST00000368336.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(526): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAG GGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGAGGGAGGGAGGAATGG AGGGATGGGGAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGGA GGGGGAGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGG AGGGGAGTGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGA GGGGAGGGGGAAGGGGAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGGAGACAGAG GGGAGGGGGGGGGAAGGGGGAGACAGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0095 a0002c0002t0001g0095	1	216	0.0046	533	c.923 others(552): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCTTCCCCC CCCCTCCCCTCTGTCTCCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCC TCCCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTCCCCTTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCC ACTCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTTCCACTCC CCTCCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTCC CCATCCCTCCATTCCTCCCTCCCTCCCTCCCTCCCTCCATTCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCT CCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DCLK2_chr4_150073445_150262438	150251040	C C	CCACACAT others(526): Show CCACACATCCCCCACACCCCCAAATCCCCCACACCCCCCACATCTCCCCA CACCCCCCACATCCCCCACACCCCCCACATCCCCCCACATCCCCCACACC CCCACACATCCCCCACACCCCCACACATCCCCCACACCCCCACACATCCC CCACACCCCCCAAATCCCCCACACCCCCCAAATCCCCCACACCCCCCAAA TCCCCCACACCCCCCAAATCCCCCACACCCCCCACATCCCCCACACCCCC ATACATCCCCCACACCCCCACACATCCCCCACACCCCCACACATCCCCCA CACCCCCACACATCCCCCACACCCCCACACATCCCCCACACCCCCACATC TCCCCACACCCCCACACCCCCCACACCTCCCACATCCCCCCACATCCCCC ACACCCCCACACATCCCCCACACCCCCACACATCCCCCACACCCCCACAC ATCCCCCACACCCCCACACATCCCCCACACCCCCACATCTCCCCACACCC CCACACCCCCCACACCTCCCACATCCCCCCACAT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	116	0.0086	533	c.207 others(552): Show c.2073+1357_2073+1358insACACATCCCCCACACCCCCAAATCCC CCACACCCCCCACATCTCCCCACACCCCCCACATCCCCCACACCCCCCAC ATCCCCCCACATCCCCCACACCCCCACACATCCCCCACACCCCCACACAT CCCCCACACCCCCACACATCCCCCACACCCCCCAAATCCCCCACACCCCC CAAATCCCCCACACCCCCCAAATCCCCCACACCCCCCAAATCCCCCACAC CCCCCACATCCCCCACACCCCCATACATCCCCCACACCCCCACACATCCC CCACACCCCCACACATCCCCCACACCCCCACACATCCCCCACACCCCCAC ACATCCCCCACACCCCCACATCTCCCCACACCCCCACACCCCCCACACCT CCCACATCCCCCCACATCCCCCACACCCCCACACATCCCCCACACCCCCA CACATCCCCCACACCCCCACACATCCCCCACACCCCCACACATCCCCCAC ACCCCCACATCTCCCCACACCCCCACACCCCCCACACCTCCCACATCCCC CCACATC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DECR2_chr16_396885_417482	397716	G G	GTGAGGGA others(526): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	367	0.0027	533	c.-42 others(544): Show c.-4248_-4247insTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4168		chr16	TogoVar
DHRSX_chrX_2214506_2505976	2227830	G G	GAGGGAGG others(526): Show GAGGGAGGGAGGGAGGGGAGGGAGGGAGGGAGGGGAGGGAGGGAGGGAGG GAGGGAAGGGAGGGAGGGAGGGAGGGAGGGAAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAAGGGAGGG AAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGGAGGGAGGGAGGG AGGGAGGGGGGGAAGGGAGGGAGGGAGGGAGGGGGGAAGGGAGGGAGGGA GGGAGGGAGGAAGGGAGGGAGAGGGGAAGGGAGGGAGGGAAGGAGGGAGG AAGGGAGGGAGGGAGGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGG AGGGAAGGGAGGGAGGGAGGGAGGGAGGGGGGAAGGGAGGGAGGGAGGGG GGAAGGGGGAAGGCAGGGAGGGAAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAGGGAGGGAGGGAGG GAGGGGGGAAGGGAGGGGGGAAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0018 a0003c0003t0002g0018	1	50	0.0200	533	c.805 others(550): Show c.805-6602_805-6601insTCCCTCCCTCCCTTCCCCCCTCCCTTCC CCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCCTCCCTCCCTTCCCTCCC TCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCCTCCCTGCCTTCCC CCTTCCCCCCTCCCTCCCTCCCTTCCCCCCTCCCTCCCTCCCTCCCTCCC TTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCCTCCCTCCC TCCCTTCCTCCCTCCTTCCCTCCCTCCCTTCCCCTCTCCCTCCCTTCCTC CCTCCCTCCCTCCCTCCCTTCCCCCCTCCCTCCCTCCCTCCCTTCCCCCC CTCCCTCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTTCCCTCCCTTCCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCC TCCCTCCCTCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCCCTCCCT TCCCTCCCTCCCTCCCTCCCTCCCCTCCCTCCCTCCCTCCCCTCCCTCCC TCCCT	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	6/6			chrX	TogoVar
DIP2C_chr10_269201_694668	418070	A A	ACCTGCAC others(526): Show ACCTGCACCTGTCAGGGCTTCGATAGGCCTCCCTGTCCACCTGCACCTGT CAGGGCTTCGATAGGCCTCCCTGTCCACCTGTTCCTGTCAGGGCTTCGAT AGGCCTCCCTGTCCACCTGTTCCTGTCAGGGCTTCGATAGGCCTCCCTGT CCACCTGCACCTGTCAGAGCTCGGACAGGCCTCCCTGTCCACCTGCACCT GTCAGGGCTCGGATAGGCCTCCCTGTCCACCTGCACCTGTCAGGGCTCGG ATAGGCCTCCCTGTCCACCTGCACCTGTCAGGGCTTCGATAGGCCTCCCT GTCCACCTGCACCTGTCAGGGCTTCGATAGGCCTCCCTGTCCACCTGCAC CTGTCAGGGCTTCGATAGGCCTCCCTGTCCACCTGCACCTGTCAGGGCTT CGATAGGCCTCCCTGTCCACCTGTTCCTGTCAGGGCTTCGATAGGCCTCC CTGTCCACCTGCACCTGTCAGAGCTCGGACAGGCCTCCCTGTCCACCTGC ACCTGTCAGGGCTCGGATAGGCCTCCCTGTCCAC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0017 a0001c0005t0002g0017	1	88	0.0114	533	c.739 others(548): Show c.739+994_739+995insGTGGACAGGGAGGCCTATCCGAGCCCTGAC AGGTGCAGGTGGACAGGGAGGCCTGTCCGAGCTCTGACAGGTGCAGGTGG ACAGGGAGGCCTATCGAAGCCCTGACAGGAACAGGTGGACAGGGAGGCCT ATCGAAGCCCTGACAGGTGCAGGTGGACAGGGAGGCCTATCGAAGCCCTG ACAGGTGCAGGTGGACAGGGAGGCCTATCGAAGCCCTGACAGGTGCAGGT GGACAGGGAGGCCTATCGAAGCCCTGACAGGTGCAGGTGGACAGGGAGGC CTATCCGAGCCCTGACAGGTGCAGGTGGACAGGGAGGCCTATCCGAGCCC TGACAGGTGCAGGTGGACAGGGAGGCCTGTCCGAGCTCTGACAGGTGCAG GTGGACAGGGAGGCCTATCGAAGCCCTGACAGGAACAGGTGGACAGGGAG GCCTATCGAAGCCCTGACAGGAACAGGTGGACAGGGAGGCCTATCGAAGC CCTGACAGGTGCAGGTGGACAGGGAGGCCTATCGAAGCCCTGACAGGTGC AGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	6/36			chr10	TogoVar
DOCK8_chr9_209865_470255	400472	C C	CCACCTCC others(526): Show CCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACC ACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCAT CTTCACCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACCA CCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACC ACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACCAGCATCTT CACCATCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCA CCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACC ACCACCTCCACCATCACCACCACCTCCACCATCACCATCACCACCACCTC CACCATCACCACCTCCTCCACCATCACCACCACCTCCACCACCACCACCT CCCCCACTACCAACAGCTCCTTCACCATCACCACAACATCCACCACCACC ATCACCACCACCACCACCACCTCCTCCACCATCA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0231 a0001c0016t0002g0231	1	256	0.0039	533	c.323 others(552): Show c.3234+1214_3234+1215insACCTCCACCATCACCACCACCTCCAC CATCACCACCACCACCTCCACCACCATCACCACCACCTCCACCATCACCA CCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACC ACCACCACCTCCACCATCACCACCACCACCTCCACCACCACCAGCATCTT CACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCA CCTCCACCACCACCAGCATCTTCACCATCACCACCACCTCCACCACCACC ACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCAC CATCACCACCACCTCCACCACCACCACCTCCACCATCACCACCACCTCCA CCATCACCATCACCACCACCTCCACCATCACCACCTCCTCCACCATCACC ACCACCTCCACCACCACCACCTCCCCCACTACCAACAGCTCCTTCACCAT CACCACAACATCCACCACCACCATCACCACCACCACCACCACCTCCTCCA CCATCAC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137716102	G G	GTTGGTGT others(526): Show GTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAG GAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGG AGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCAT GGTGGGGGGGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTT GGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCGTGGTGGGGGAGGAAGTT GTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGG AGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCAT GGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTC ATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTG TTGGTGTCATGGTGGGGGGGGAAGTTGTGGTGGTGTCATGGTGGGGGAGG AAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0139 a0001c0004t0001g0139	1	170	0.0059	533	c.86- others(546): Show c.86-524_86-523insTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTG GTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTG TGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGA AGTTGTGTTGGTGTCATGGTGGGGGGGGAAGTTGTGGTGGTGTCATGGTG GGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCG TGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGT TGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGA AGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCATGGTGGGG GAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGG TGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGGAAGTTGTGGTGG TGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGT T	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26			chr9	TogoVar
EML1_chr14_99788413_99947060	99928191	G G	GTGATGGT others(526): Show GTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGGGTGGTGTGGTGGTGGTGGTGGTGGTGTGGTGGTGGTGATGGT GGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0164 a0002c0001t0002g0164	1	288	0.0035	533	c.190 others(552): Show c.1909+7316_1909+7317insATGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGATGGTGGTGGGTGGTGTGGTGGTGGTGGTGG TGGTGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGT GGTGATG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
FAM167A_chr8_11416476_11471753	11456222	A A	AGTGAGTG others(526): Show AGTGAGTGTGGGGGGTGGTTGCCTTGTGGGTATCAGTGTGAGTGTAAGGT GGTTGCCCTGCTGGGTGTGTATGGGTGTGAGTGTGGGGGGTGTTTGCCTT GCTGTGAGTGTGAGTGTGAGGGTTGGTTGCCTTGTGGGTATCAGTGTGAG TGTGAGGTGGTTGCCCTGCTGGGTGTGTATGGGTGTGAGTGTGGGGTGGT TGCCCTGCTGGGTGCGTGTGTGGGGTGGTTGCTCTGCCTGGTGTGTGAGT GTGAGTGTGAGTGTGGGGGGTGGTTGCCTTGCTGTGTGTGAGTGTGAGTG TGGGGGGTGGTTGCCTTGCTGTGAGTGTGAATGTGGGGGGTGGTTGCCTT GCTGTGTGTGAGTGTGAGTGTGGGGGGTAGTTGCCTTGCTGTGTGTGAGT GTGAGTGTGGGGGGTAGTTGCCTTGCTGGGTGTGTGAATGAGGGGTGGTT GCCTTGCTGTGCATGAGTGTGAGTGTGAGTGTCAGGGGTGGTTGCCCTGC TGGGGGTATGTGAGTGTTGGGTGGTTGCCTTGCT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0104 a0001c0001t0104	a0001c0001t0104g0091 a0001c0001t0104g0091	1	374	0.0027	533	c.-39 others(554): Show c.-398+10403_-398+10404insAGCAAGGCAACCACCCAACACTCA CATACCCCCAGCAGGGCAACCACCCCTGACACTCACACTCACACTCATGC ACAGCAAGGCAACCACCCCTCATTCACACACCCAGCAAGGCAACTACCCC CCACACTCACACTCACACACAGCAAGGCAACTACCCCCCACACTCACACT CACACACAGCAAGGCAACCACCCCCCACATTCACACTCACAGCAAGGCAA CCACCCCCCACACTCACACTCACACACAGCAAGGCAACCACCCCCCACAC TCACACTCACACTCACACACCAGGCAGAGCAACCACCCCACACACGCACC CAGCAGGGCAACCACCCCACACTCACACCCATACACACCCAGCAGGGCAA CCACCTCACACTCACACTGATACCCACAAGGCAACCAACCCTCACACTCA CACTCACAGCAAGGCAAACACCCCCCACACTCACACCCATACACACCCAG CAGGGCAACCACCTTACACTCACACTGATACCCACAAGGCAACCACCCCC CACACTCAC	FAM167A	ENSG00000154319.16	transcript	ENST00000284486.9	protein_coding	1/2			chr8	TogoVar
FBN2_chr5_128252909_128543245	128540035	T T	TATATCAT others(526): Show TATATCATATATATCATATATCATATATCATATATATCATATATATCATA TATCATATATCAATCATATATATCATATATCATATATATCATATATATCA TATATCATATATATCATATATATCATATATCATATATCATATATATCATA TATCATATATCATATATATCATATATCATATATATCATATATATCATATA TCATATATATCATATATATCATATATCATATATATCATATATATCATATA TCATATATATCATATATATCATATATCATATATATCATATATATCATATA TCATATATATCATATATATCATATATCATTATCATATATCATATATATCA TATATCATATATCATATATATCATATATCAATCATATATATCATATATCA TATATCATATATATCATATATCATATATCATATATATCATATATCATATA TCATATATATCATATATATCATATATATCATATATATCATATATCATATA TCATATATCATATATATCATATATATCATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0014 a0001c0014t0014	a0001c0014t0014g0114 a0001c0014t0014g0114	1	236	0.0042	533	c.-24 others(544): Show c.-2433_-2432insGATATATGATATATATGATATATATGATATATGA TATATGATATATGATATATATGATATATATGATATATATGATATATATGA TATATGATATATGATATATATGATATATGATATATGATATATATGATATA TGATATATGATATATATGATTGATATATGATATATATGATATATGATATA TGATATATATGATATATGATAATGATATATGATATATATGATATATATGA TATATGATATATATGATATATATGATATATGATATATATGATATATATGA TATATGATATATATGATATATATGATATATGATATATATGATATATATGA TATATGATATATATGATATATATGATATATGATATATATGATATATGATA TATGATATATATGATATATGATATATGATATATATGATATATATGATATA TGATATATATGATATATATGATATATGATATATATGATTGATATATGATA TATGATATATATGATATATATGATATATGATATATGATATATATGATAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1791		chr5	TogoVar
GLIS1_chr1_53501239_53744164	53525463	A A	AGGCTGGG others(526): Show AGGCTGGGGAGGCTGGGGAGGTTGGGGGTGCTGGGAGTCTGGGGAGGCTG GGGAGGTGGGGGGCTGGGGAGGCTGGGGAGGTGGAGGCTGGGGAGGTGGG GAGGCTGGGGGCTGGGGGGCTGGGGAGGCTGGGGAGGTGGGGGGCTGGGG AGGCTGGGGAGGTGGAGGCTGGGGAGGTGGGGAGGCTGGGGGCTGGGGGG CTGGGGAGGCTGGGGAGGTGGGGGGCTGGGGAGGCTGGGGAGGTGGGGGG CTGGGAAGGCTGGGGAGGTGGGGGGCTAAGAAGGCTGGGGGGCTGGGGTG CTGGGGAGGCTGGGGAGGTGGGGGCTGGGGAGGCTGGGGGGCTGGGGCGC TGGGGAGGCTGGGGAGGCTGGGGGTGCTGGGCAGGCTGAGGAGGTGGGGA GGCTGGGGGAGCAAGGGGTGGGGGAGGTAGGGAGGCTGGGGAGGCTGGGG GCGGGGGAGTCTGGGGAGGCTGGGGGGGTGGGGGGCTAGGAGGTGGGGGA GGCGGGGAGGCTGGGGAGGCTGGGGGGGCTGGGG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA19085.hp1 NA18952.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0002c0006t0001 a0001c0001t0001 a0002c0006t0001	a0001c0001t0001g0177 a0002c0006t0001g0064 a0001c0001t0001g0177 a0002c0006t0001g0064	2	236	0.0085	533	c.148 others(550): Show c.1483-577_1483-576insCCCCAGCCCCCCCAGCCTCCCCAGCCTC CCCGCCTCCCCCACCTCCTAGCCCCCCACCCCCCCAGCCTCCCCAGACTC CCCCGCCCCCAGCCTCCCCAGCCTCCCTACCTCCCCCACCCCTTGCTCCC CCAGCCTCCCCACCTCCTCAGCCTGCCCAGCACCCCCAGCCTCCCCAGCC TCCCCAGCGCCCCAGCCCCCCAGCCTCCCCAGCCCCCACCTCCCCAGCCT CCCCAGCACCCCAGCCCCCCAGCCTTCTTAGCCCCCCACCTCCCCAGCCT TCCCAGCCCCCCACCTCCCCAGCCTCCCCAGCCCCCCACCTCCCCAGCCT CCCCAGCCCCCCAGCCCCCAGCCTCCCCACCTCCCCAGCCTCCACCTCCC CAGCCTCCCCAGCCCCCCACCTCCCCAGCCTCCCCAGCCCCCCAGCCCCC AGCCTCCCCACCTCCCCAGCCTCCACCTCCCCAGCCTCCCCAGCCCCCCA CCTCCCCAGCCTCCCCAGACTCCCAGCACCCCCAACCTCCCCAGCCTCCC CAGCC	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	5/10			chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33322625	T T	TATGGAAT others(526): Show TATGGAATATATATATGGAATATATATATATGGAATATATATATGGAATA TATATATGGAATATATATATATGGAATATATATATATGGAATATATATAT GGAATATATATATATGGAATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATGGAATATATATA TATGGAATATATATATATGGAATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATGGAATATATATATATGGAATATAT ATATGGAATATATATACATGGAATATATATACATGGAATATATATACATG GAATATATATACATGGAATATATATACATGGAATATATATACATGGAATA TATACATGGAATATATATATGGAATGTTTATATGGAATATATATATGGAA TATATATATATGGAATATATATATATGGAATATATATATATGGAATATAT ATATGGAATATATATATGGAATATATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	323	0.0031	533	c.-24 others(544): Show c.-2431_-2430insATGGAATATATATATGGAATATATATATATGGAA TATATATATGGAATATATATATGGAATATATATATATGGAATATATATAT ATGGAATATATATATGGAATATATATATATGGAATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATGGAATATATATA TATGGAATATATATATATGGAATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATGGAATATAT ATATATGGAATATATATATGGAATATATATACATGGAATATATATACATG GAATATATATACATGGAATATATATACATGGAATATATATACATGGAATA TATATACATGGAATATATACATGGAATATATATATGGAATGTTTATATGG AATATATATATGGAATATATATATATGGAATATATATATATGGAATATAT ATATATGGAATATATATATGGAATATATATATGGAATATATATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2344		chr21	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(526): Show TAAGAAAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0104 a0002c0003t0001g0104	1	308	0.0033	533	c.127 others(552): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TTTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
KIR2DL3_chr19_54733513_54758052	54755850	G G	GATATGGG others(526): Show GATATGGGCGTGGGGTGGAGATATGGGCCTTGAGTGGAGATATGGGACTG AAGTGGAGATATGGGTGTGGGGTGGAGATATGGGACTGGAGTGCAGATAT GGGCATGGGGTGGAGATATGGGACTGGAGTGGAGATATGGGCGTGGAGTG GAGATATGGGACTGGAGTGGAGATATGGGCGTGGGGTGGAGATATGGGCC TGGAGTGGAGATATGGGCGTGTGGTGAAGATATGGGCCTGGAGTGGAGAT ATGGGCCTGGAATGGAGATATGGGCGTGGGGTGGAGATATGGGACTGGAG TGGAGATATGGGCCTGTTGTGGAGATATGGGCTTGGAGTGGAGATATGAT CCTGGAATGTAGTTATGGGCCTGGAGGTGGAGATCTGGGCCCGGGGTGGA GATATGGGCCTGGAGTGGAGATATGGGCCTGGAGAGGAGATATGGGCCTG GAGTGGAGATATGGGCCTGGACTGGAGTTATGGGCCTGGGGTGGAGATCT GAGCCTGGATTGCAGATGTGGGCCCAGATTGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA19066.hp1 NA18952.hp1 NA19066.hp1	a0000 a0000	a0000c0010 a0000c0010	a0000c0010t0006 a0000c0010t0006	a0000c0010t0006g0053 a0000c0010t0006g0055 a0000c0010t0006g0053 a0000c0010t0006g0055	2	312	0.0064	533	c.33 others(544): Show c.3331_*3332insATATGGGCGTGGGGTGGAGATATGGGCCTTGAGT GGAGATATGGGACTGAAGTGGAGATATGGGTGTGGGGTGGAGATATGGGA CTGGAGTGCAGATATGGGCATGGGGTGGAGATATGGGACTGGAGTGGAGA TATGGGCGTGGAGTGGAGATATGGGACTGGAGTGGAGATATGGGCGTGGG GTGGAGATATGGGCCTGGAGTGGAGATATGGGCGTGTGGTGAAGATATGG GCCTGGAGTGGAGATATGGGCCTGGAATGGAGATATGGGCGTGGGGTGGA GATATGGGACTGGAGTGGAGATATGGGCCTGTTGTGGAGATATGGGCTTG GAGTGGAGATATGATCCTGGAATGTAGTTATGGGCCTGGAGGTGGAGATC TGGGCCCGGGGTGGAGATATGGGCCTGGAGTGGAGATATGGGCCTGGAGA GGAGATATGGGCCTGGAGTGGAGATATGGGCCTGGACTGGAGTTATGGGC CTGGGGTGGAGATCTGAGCCTGGATTGCAGATGTGGGCCCAGATTGGCT	KIR2DL3	ENSG00000243772.8	transcript	ENST00000342376.4	protein_coding		2799		chr19	TogoVar
LAMA5_chr20_62304065_62372312	62360614	A A	ATGGATAG others(526): Show ATGGATAGGTGGGTGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGT GGATGGATAGGTGGGTGGGTGGGTGGAGGGATAGATGGGGGGGTGGGTGG GTGGAGGGATAGATGGGTGGTGGGTGGGTGGAGGGATAGATGGGTGGGTG GGTGGGTGGGTGGATGGATGGGTGGATGGGTGGGTGGAGGGATAGATGGG TGGGTGGGTGGGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGGATA GATGGGGGGGTGGGTGGGTGGAGGGATAGATGGGTGGTGGGTGGGTGGAG GGATAGATGGGGGGGTGGGTGGGTGGAGGGATAGATGGGTGGTGGGTGGG TGGAGGGATAGATGGGGGGGTGGGTGGGTGGAGGGATAGATGGGTGGATG GGTGGGTAGAAGGATAGGTAGGTGGGTGGGTGGGTGGATGGATAGGTGGA TGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGAGGGATAGATG GGTGGGTGGGTGGGTGGGTGGATGGATAGGTGGG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0058 a0058	a0058c0122 a0058c0122	a0058c0122t0001 a0058c0122t0001	a0058c0122t0001g0080 a0058c0122t0001g0080	1	186	0.0054	533	c.450 others(550): Show c.450+1785_450+1786insCCCACCTATCCATCCACCCACCCACCCA CCCACCCATCTATCCCTCCACCCACCCACCCACCCATCTATCCCTCCACC CACCCATCCACCTATCCATCCACCCACCCACCCACCTACCTATCCTTCTA CCCACCCATCCACCCATCTATCCCTCCACCCACCCACCCCCCCATCTATC CCTCCACCCACCCACCACCCATCTATCCCTCCACCCACCCACCCCCCCAT CTATCCCTCCACCCACCCACCACCCATCTATCCCTCCACCCACCCACCCC CCCATCTATCCCTCCACCCACCCACCCACCTATCCATCCACCCACCCACC CACCCACCCATCTATCCCTCCACCCACCCATCCACCCATCCATCCACCCA CCCACCCACCCACCCATCTATCCCTCCACCCACCCACCACCCATCTATCC CTCCACCCACCCACCCCCCCATCTATCCCTCCACCCACCCACCCACCTAT CCATCCACCCACCCACCCACCCATCTATCCCTCCACCCACCCACCCACCT ATCCA	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LHPP_chr10_124456823_124619141	124471472	T T	TATATAAA others(526): Show TATATAAATTTTTTTTATATTTATATATTTTTTATATATTTATATATATA CTACATATATTTTTATATTTTATATATATTTATATATTTTATATATTTAT ATATTTTTTATATATTTATATATTTATATATATATTTATATATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATTTA TATATTTATGTATATATTTATATATATTTATATATTTATGTATATATTTA TATATATTTATATATTTATGTATATATATATATTTATATGTATTTATATA TATTTATATGTATTTATATATATTTATATATTTATATGTATTTATACATA TATATTTATATGTATTTATATATATTTATATATATTTTTTATGTATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATTTATATATATATTTATATATATATTATTTATATATATATT TATATATATTTATATATATTTATATATATATTTA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	260	0.0039	533	c.125 others(550): Show c.125+9485_125+9486insATATAAATTTTTTTTATATTTATATATT TTTTATATATTTATATATATACTACATATATTTTTATATTTTATATATAT TTATATATTTTATATATTTATATATTTTTTATATATTTATATATTTATAT ATATATTTATATATATTTATGTATATTTATATATATATTTATATATATTT ATGTATATTTATATATATTTATATATTTATGTATATATTTATATATATTT ATATATTTATGTATATATTTATATATATTTATATATTTATGTATATATAT ATATTTATATGTATTTATATATATTTATATGTATTTATATATATTTATAT ATTTATATGTATTTATACATATATATTTATATGTATTTATATATATTTAT ATATATTTTTTATGTATTTATATATATTTATATATATATTTATATATATT TATATATATATTTATATATATTTATATATATTTATATATATATTTATATA TATATTATTTATATATATATTTATATATATTTATATATATTTATATATAT ATTTA	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6			chr10	TogoVar
LHPP_chr10_124456823_124619141	124507025	G G	GATTTCAG others(526): Show GATTTCAGGTGTGGGGGTAGACAGGATTTCAGTGGGGGGGTAGGGAGGAT TTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGACAGGATT TCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTT CAGGTGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCA GGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAG GTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGT GTGGAGGGTAGACAGGATTTCAGGTGGGGGGTAGGGAGGATTTCAGGTGT GGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGG GGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGG GGGTAGGGAGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAG GGTAGACAGGATTTCAGGTGGGGGGATAGGGAGT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	260	0.0039	533	c.624 others(550): Show c.624+8907_624+8908insTGGGGGTAGACAGGATTTCAGTGGGGGG GTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGG TAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGT AGACAGGATTTCAGGTGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAG ACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGA CAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGA GGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGTAGGGAGG ATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGTA TTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGAT TTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGGGGTAGGGAGGATTT CAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTC AGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LUC7L_chr16_183990_234449	186901	G G	GGAGGAAC others(526): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGA CACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGG AACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACAC GGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACA GCGACACGGGGGGGGAACAGCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	350	0.0029	533	c.22 others(544): Show c.2296_*2297insTCCCTCCCGTGTCGCTGTTCCCCCCCCGTGTCGC TGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGT GTCGCTGTTCCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCC GTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCT CCCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGC TGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGT GTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCC CCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTT CCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCT GTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCTCCGTG TCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2088		chr16	TogoVar
MBP_chr18_76973833_77137783	77118010	T T	TGGGATGG others(526): Show TGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCG GGATGGGGACAGTGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGTGGG ATGGGGGACAGTGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGTGGGA TGGGGGACAGTGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGCGGGAT GGGGACAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGG GGACAGTGGGTTGGAGTGGGATGGGGACAGTGGGTTGGGGTGGGACGGGG ACAGGGGGTTGGGGCGGGATGGGGGACAGTGGGTTGGGGTGGGATGGGGA CAGTGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACA GTGGGTTGGGGTGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGGACAG TGGGTTGGGGCGGGATGGGGACAGTGGGTTGGGGCGGGATGGGGACAGTG GGTTGGGGCGGGATGGGGGACAGTGGGTTGGGGC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03927.hp2 HG03688.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0027 a0001c0001t0009 a0001c0001t0027	a0001c0001t0009g0118 a0001c0001t0027g0385 a0001c0001t0009g0118 a0001c0001t0027g0385	2	396	0.0051	533	c.-25 others(552): Show c.-25-12725_-25-12724insGCCCCAACCCACTGTCCCCCATCCCG CCCCAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCC CCAACCCACTGTCCCCCATCCCGCCCCAACCCACTGTCCCCATCCCACCC CAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCA ACCCACTGTCCCCATCCCACCCCAACCCACTGTCCCCCATCCCGCCCCAA CCCCCTGTCCCCGTCCCACCCCAACCCACTGTCCCCATCCCACTCCAACC CACTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCAACCCA CTGTCCCCATCCCGCCCCAACCCACTGTCCCCATCCCACCCCAACCCACT GTCCCCCATCCCACCCCAACCCACTGTCCCCATCCCACCCCAACCCACTG TCCCCCATCCCACCCCAACCCACTGTCCCCATCCCACCCCAACCCACTGT CCCCATCCCGCCCCAACCCACTGTCCCCATCCCGCCCCAACCCACTGTCC CCATCCC	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar

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Search Results (Total: 10000 hits)