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
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(624): Show AAGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCC CGCCCGGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGTCAGCACCCC GCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCTCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCTGCCCTGTCCG GGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGACAGCCGCCCTGTCCGGGAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	326	0.0031	631	c.737 others(650): Show c.737+19565_737+19566insCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGACAGGGCAGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCAG TAGAGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGG CCAGGCGGGGTGCTGACCCCCCCACCTCCTTCCCGGACGGGGCAGCTGGC CGGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCAC CTCCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(624): Show AAGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCC CGCCCGGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGTCAGCACCCC GCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCG CCTCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGTGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCAT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCTGCCCTGTCCG GGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGACAGCCGCCCTGTCCGGGAG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03942.hp2 HG03490.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0122 a0001c0002t0003g0123 a0001c0002t0003g0122 a0001c0002t0003g0123	2	326	0.0061	631	c.737 others(650): Show c.737+19565_737+19566insCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGACAGGGCAGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGATGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCACCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCAG TAGAGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGG CCAGGCGGGGTGCTGACCCCCCCACCTCCTTCCCGGACGGGGCAGCTGGC CGGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCAC CTCCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(624): Show AAGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGCCACCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCC CCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCC CGCCCGGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGTCAGCACCCC GCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCTGGCCG CCTCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCTGCCCTGTCCG GGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGACAGCCGCCCTGTCCGGGAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA18522.hp2 HG02451.hp2 NA18522.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0010 a0001c0005t0002g0011 a0001c0005t0002g0010 a0001c0005t0002g0011	2	326	0.0061	631	c.737 others(650): Show c.737+19565_737+19566insCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGACAGGGCAGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCAG TAGAGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGG CCAGGCGGGGTGCTGACCCCCCCACCTCCTTCCCGGACGGGGCAGCTGGC CGGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGCTGACCCCCCCAC CTCCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
COPG2_chr7_130501238_130673748	130591387	A A	AAGGAGGT others(624): Show AAGGAGGTGGGGGGGTCAGCCCCCCCACCCGGCCAGCCACCCCGTCCGGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCTCTACTGGGAAGAGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCC CCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCC CCGCCCAGCCAGCTGCCCCGTCCGGGAAGGAGGTGGGGGGGGTCAGCACC CCGCCTGGCCAGCCACCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCTCTACTGGGAAGAGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCTGCCCTGTCTG GGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGACAGCCGCCCTGTCCGGGAG	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0223 a0001c0001t0002g0223	1	326	0.0031	631	c.737 others(650): Show c.737+19565_737+19566insCTCCCGGACAGGGCGGCTGTCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCAGACAGGGCAGCTGGCCGGGCGGGGGGCTGATCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCTCTTCCCAGTA GAGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGGCC AGGCGGGGTGCTGACCCCCCCCACCTCCTTCCCGGACGGGGCAGCTGGCT GGGCGGGGGGCTGACCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCTCTTCCCAGTAGAGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCAC CTCCT	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
CPNE4_chr3_131528569_132040014	131978270	T T	TATTTATA others(624): Show TATTTATATATATTTATATATATATTTATATATATTTATATTTATATATA TATTTTTATATATTTATATATATTTTTATATATTTATATATTTATATATA TATTTATATATATATTTATATATATTTTTATATATATATTTATATATATA TTTATATATATATTTATATATATTTTTATATATATATTTATATATATTTA TATATATATATTTATATATATATTTTTATATATTTATATATATATATTTA TATATATATTTTTATATATTTATATATATTTATATATATTTATATATATA TTTATATATATATTTATATATATTTATATATATATATTTATATATATATT TATATATATTTATATATATATATTTATATATATATATATATATTTATATA TATTTATATATATATATATTTATATATATTTATATATATATATTTATATA TATATTTATATATATTTATATATATATATTTATATATATTTATATATATA TTTATATATATTTATATATATATATTTATATATTTATATATATTTATATA TATATTTATATATTTATATATATTTATATATATATTTATATATTTATATA TATTTATATATATATTTATATATTTATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 homoSapiens_chm13v2.hp1 HG01081.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0050 a0001c0001t0001g0051	2	94	0.0213	631	c.-2+ others(648): Show c.-2+56296_-2+56297insTATATATAAATATATAAATATATATATA AATATATATAAATATATAAATATATATATAAATATATATAAATATATAAA TATATATATAAATATATATAAATATATAAATATATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATATATAAATATATATAAA TATATATATAAATATATATATATAAATATATATAAATATATATATATATA AATATATATAAATATATATATATATATATAAATATATATATATAAATATA TATAAATATATATATAAATATATATATATAAATATATATAAATATATATA TAAATATATATATAAATATATATAAATATATATAAATATATAAAAATATA TATATAAATATATATATATAAATATATAAAAATATATATATAAATATATA TATATAAATATATATAAATATATATATAAAAATATATATAAATATATATA TAAATATATATATAAATATATATATAAAAATATATATAAATATATATATA AATATATATATAAATATATAAATATATAAAAATATATATAAATATATAAA AATATATATATAAATATAAATATATATAAATATATATATAAATATATATA AAT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CTU2_chr16_88701503_88720396	88713084	C C	CCTGAGAG others(624): Show CCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATGCCCGAGAGCCCTTCCCCGGGCCCTGACCCCCACT CATGCCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCC TTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCG GGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTG ACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCAC TCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCC CCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGA GCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCC TTCCCCGGGCCCTGACCCCCACTCATACCCCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0150 a0002c0002t0001g0150	1	418	0.0024	631	c.737 others(646): Show c.737+179_737+180insCTGAGAGCCCCCCTTCCCCGGGCCCTGACC CCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT ACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCGAGAGCCCTTCC CCGGGCCCTGACCCCCACTCATGCCCGAGAGCCCCCCTTCCCCGGGCCCT GACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCAC TCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCC TGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTC CCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGC CCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACC CCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTC ATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCC T	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14			chr16	TogoVar
CTU2_chr16_88701503_88720396	88713084	C C	CCTGAGAG others(624): Show CCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATGCCCGAGAGCCCTTCCCCGGGCCCTGACCCCCACT CATGCCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCC TTCCCTGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCG GGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTG ACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCAC TCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCC CCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGA GCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCC TTCCCCGGGCCCTGACCCCCACTCATACCCCT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0151 a0002c0002t0001g0151	1	418	0.0024	631	c.737 others(646): Show c.737+179_737+180insCTGAGAGCCCCCCTTCCCCGGGCCCTGACC CCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCAT ACCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAG AGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCGAGAGCCCTTCC CCGGGCCCTGACCCCCACTCATGCCCGAGAGCCCCCCTTCCCCGGGCCCT GACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCAC TCATACCCGAGAGCCCCCCTTCCCTGGGCCCTGACCCCCACTCATGCCCC TGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCTTC CCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGC CCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACC CCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTC ATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCC T	CTU2	ENSG00000174177.13	transcript	ENST00000453996.7	protein_coding	7/14			chr16	TogoVar
DPP6_chr7_154047398_154899285	154779089	C C	CTCTACCA others(624): Show CTCTACCACCACCACCACCACCATCACCTCCACCACCACCACCACAACTA CCCCCACCATCACCACCATCACCTCCATCACCTCCACAACCTCTACCACC ACCACCACCACCATCACCTCCACCACCACCACCACAACCACCCCCACCAT CACCTCCAAAACCTCCACCACCAGCACCACCACCATCACTTCCACCACCA CCACCACAACTACCCCCACCATCACCTCCATCACCTCCACAACCTCTACC ACCACCACCACCATCATCACCTCCACCACCATCACCACTATCACCACCAA CCCATCATCACCACCTCCACCACCACCACCATCACCCCCCCATCACCTCC ACCACCACCACCACAACCACCCCACCATCACCTCCATCACCTCCACAACC TCTACCACCACCACCACCATCATCACCTCCACCACCATCACCACTATCAC CACCAACCCATCATCACCACCTCCACCACCACCACCTTCACCCCCACCGT CACCTCCACCACCACCTCCATTACCTCCACAACTTCTACCACCACCACCC CCACCACCACCAGCACCACTATCACCACTATCACCACCACCCCCACCATC ACCTCCACACCACCTCCATTACCTCCACAATT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0011 a0001c0021t0011	a0001c0021t0011g0022 a0001c0021t0011g0022	1	38	0.0263	631	c.113 others(650): Show c.1136+6165_1136+6166insACCATCACCTCCACCACCACCACCAC AACTACCCCCACCATCACCACCATCACCTCCATCACCTCCACAACCTCTA CCACCACCACCACCACCATCACCTCCACCACCACCACCACAACCACCCCC ACCATCACCTCCAAAACCTCCACCACCAGCACCACCACCATCACTTCCAC CACCACCACCACAACTACCCCCACCATCACCTCCATCACCTCCACAACCT CTACCACCACCACCACCATCATCACCTCCACCACCATCACCACTATCACC ACCAACCCATCATCACCACCTCCACCACCACCACCATCACCCCCCCATCA CCTCCACCACCACCACCACAACCACCCCACCATCACCTCCATCACCTCCA CAACCTCTACCACCACCACCACCATCATCACCTCCACCACCATCACCACT ATCACCACCAACCCATCATCACCACCTCCACCACCACCACCTTCACCCCC ACCGTCACCTCCACCACCACCTCCATTACCTCCACAACTTCTACCACCAC CACCCCCACCACCACCAGCACCACTATCACCACTATCACCACCACCCCCA CCATCACCTCCACACCACCTCCATTACCTCCACAATTTCTACCACCACCA CCACC	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	10/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DUS3L_chr19_5780140_5796163	5787204	G G	GGTGGGAG others(624): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTAGTGGGAGACAGTGGCAGAC AGTGGGAGGTGGTGGGAGATGGTGGCAGACGGTGGGAGGTGGTGGGAGAC AGTGGGAAGTGGTGGGAGGTGGTGGGAGACGGTGGGAGGTGGTAGGAGAC GGTGGGAGGTGGTGGGAGACACTCGGAGACGGTGGGATGTGGTGGGAGGT AGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGAGATGGTGAGAGGT GGTGGGAGACGGCAGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGAAGGTG GGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTGGGAGGTCGTG GGAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGACGGTGGGAGGTGGTG GGAGACGGCGGGAGGTGGTGGGAGATGGCGGGAGGTGGTGGGAAGTGGTG GGAGACGGAGATGGTGGGAGACGGTGGGAGACGGCGGGAGGTGGAGGGAG GCGGCGGGAGATGGCGGGAGGTGGCAGGAGACGTGGGAGGTGGCAGGAGA CGGTGGGAGGTGGTGGGAGGTGGTGGGAGACA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02818.hp2 HG02922.hp2 others(2): Show HG02559.hp1 HG02818.hp2 HG02922.hp2 HG03225.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0013 a0001c0003t0001g0013	5	364	0.0137	631	c.127 others(646): Show c.1279-34_1279-33insTGTCTCCCACCACCTCCCACCACCTCCCAC CGTCTCCTGCCACCTCCCACGTCTCCTGCCACCTCCCGCCATCTCCCGCC GCCTCCCTCCACCTCCCGCCGTCTCCCACCGTCTCCCACCATCTCCGTCT CCCACCACTTCCCACCACCTCCCGCCATCTCCCACCACCTCCCGCCGTCT CCCACCACCTCCCACCGTCTCCCACCGTCTCCCACCACCTCCCACCATCT CCCACGACCTCCCACCATCTGCCAGTGTCTCCCACTACCTCCCACCACAT CCCACCTTCTCCGTCTCCCACCACTTCCCACCACCTCCCACCACCTCCCA CCGTCTCCCACCACCTCCCGCCGTCTCCCACCACCTCCTGCCGTCTCCCA CCACCTCTCACCATCTCCCACCACCTCCCACCGTCTGCCAATGTCTCCCA CTACCTCCCACCACATCCCACCGTCTCCGAGTGTCTCCCACCACCTCCCA CCGTCTCCTACCACCTCCCACCGTCTCCCACCACCTCCCACCACTTCCCA CTGTCTCCCACCACCTCCCACCGTCTGCCACCATCTCCCACCACCTCCCA CTGTCTGCCACTGTCTCCCACTACCTCCCACCATCTCCCACGACCTCCCA C	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding	7/12			chr19	TogoVar
DUS3L_chr19_5780140_5796163	5787204	G G	GGTGGGAG others(624): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTCGTGGGAGATGGTGGGAGGT AGTGGGAGACAGTGGCAGACAGTGGGAGGTGGTGGGAGATGGTGGCAGAC GGTGGGAGGTGGTGGGAGACAGTGGGAAGTGGTGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTAGGAGACGGTGGGAGGTGGTGGGAGACACTCGGAGAC GGTGGGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGACGGTGGGAGGT GGTGGGAGATGGTGAGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAT GGCGGGAGGTGGTGGGAGACGGTGGGAGGTGGTGGGAGGTGGTGGGAGAC GGAGAAGGTGGGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTG GGAGGTCGTGGGAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGATGGTG GGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGATGGCGGGAGGTGGTG GGAAGTGGTGGGAGACGGAGATGGTGGGAGACGGTGGGAGACGGCGGGAG GTGGAGGGAGGCGGCGGGAGATGGCGGGAGGTGGCAGGAGACGTGGGAGG TGGCAGGAGACGGTGGGAGGTGGTGGGAGACA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03540.hp2 HG02559.hp2 HG03540.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0049 a0002c0001t0002g0064 a0002c0001t0002g0049 a0002c0001t0002g0064	2	364	0.0055	631	c.127 others(646): Show c.1279-34_1279-33insTGTCTCCCACCACCTCCCACCGTCTCCTGC CACCTCCCACGTCTCCTGCCACCTCCCGCCATCTCCCGCCGCCTCCCTCC ACCTCCCGCCGTCTCCCACCGTCTCCCACCATCTCCGTCTCCCACCACTT CCCACCACCTCCCGCCATCTCCCACCACCTCCCGCCGTCTCCCACCACCT CCCACCATCTCCCACCGTCTCCCACCACCTCCCACCATCTCCCACGACCT CCCACCATCTGCCAGTGTCTCCCACTACCTCCCACCACATCCCACCTTCT CCGTCTCCCACCACCTCCCACCACCTCCCACCGTCTCCCACCACCTCCCG CCATCTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCACCATCTCCCA CCACCTCCCACCGTCTGCCAGTGTCTCCCACTACCTCCCACCACATCCCA CCGTCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTACCACCTCCCA CCGTCTCCCACCACCTCCCACCACTTCCCACTGTCTCCCACCACCTCCCA CCGTCTGCCACCATCTCCCACCACCTCCCACTGTCTGCCACTGTCTCCCA CTACCTCCCACCATCTCCCACGACCTCCCACCATCTCCCACGACCTCCCA C	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding	7/12			chr19	TogoVar
DUS3L_chr19_5780140_5796163	5787204	G G	GGTGGGAG others(624): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTCGTGGGAGATGGTGGGAGGT AGTGGGAGACAGTGGCAGACAGTGGGAGGTGGTGGGAGATGGTGGCAGAC GGTGGGAGGTGGTGGGAGACAGTGGGAAGTGGTGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTAGGAGACGGTGGGAGGTGGTGGGAGACACTCGGAGAC GGTGGGATGTGGTGGGAGGTAGTGGGAGACATTGGCAGACGGTGGGAGGT GGTGGGAGATGGTGAGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAT GGCGGGAGGTGGTGGGAGACGGTGGGAGGTGGTGGGAGGTGGTGGGAGAC GGAGAAGGTGGGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTG GGAGGTCGTGGGAGATGGTGGGAGGTGGTGGGAGACGGCGGGAGATGGTG GGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGATGGCGGGAGGTGGTG GGAAGTGGTGGGAGACGGAGATGGTGGGAGACGGTGGGAGACGGCGGGAG GTGGAGGGAGGCGGCGGGAGATGGCGGGAGGTGGCAGGAGACGTGGGAGG TGGCAGGAGACGGTGGGAGGTGGTGGGAGACA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01358.hp1 HG00099.hp2 HG01358.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0022 a0002c0001t0002g0022	2	364	0.0055	631	c.127 others(646): Show c.1279-34_1279-33insTGTCTCCCACCACCTCCCACCGTCTCCTGC CACCTCCCACGTCTCCTGCCACCTCCCGCCATCTCCCGCCGCCTCCCTCC ACCTCCCGCCGTCTCCCACCGTCTCCCACCATCTCCGTCTCCCACCACTT CCCACCACCTCCCGCCATCTCCCACCACCTCCCGCCGTCTCCCACCACCT CCCACCATCTCCCGCCGTCTCCCACCACCTCCCACCATCTCCCACGACCT CCCACCATCTGCCAGTGTCTCCCACTACCTCCCACCACATCCCACCTTCT CCGTCTCCCACCACCTCCCACCACCTCCCACCGTCTCCCACCACCTCCCG CCATCTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCACCATCTCCCA CCACCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCACCACATCCCA CCGTCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTACCACCTCCCA CCGTCTCCCACCACCTCCCACCACTTCCCACTGTCTCCCACCACCTCCCA CCGTCTGCCACCATCTCCCACCACCTCCCACTGTCTGCCACTGTCTCCCA CTACCTCCCACCATCTCCCACGACCTCCCACCATCTCCCACGACCTCCCA C	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding	7/12			chr19	TogoVar
DUS3L_chr19_5780140_5796163	5787204	G G	GGTGGGAG others(624): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTCGTGGGAGATGGTGGGAGGT AGTGGGAGACAGTGGCAGACAGTGGGAGGTGGTGGGAGATGGTGGCAGAC GGTGGGAGGTGGTGGGAGACAGTGGGAAGTGGTGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTAGGAGACGGTGGGAGGTGGTGGGAGACACTCGGAGAC GGTGGGATGTGGTGGGAGGTAGTGGGAGACATTGGCAGACGGTGGGAGGT GGTGGGAGATGGTGAGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAT GGCGGGAGGTGGTGGGAGACGGTGGGAGGTGGTGGGAGGTGGTGGGAGAC GGAGAAGGTGGGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTG GGAGGTCGTGGGAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGATGGTG GGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGATGGCGGGAGGTGGTG GGAAGTGGTGGGAGACGGAGATGGTGGGAGACGGTGGGAGACGGCAGGAG GTGGAGGGAGGCGGCGGGAGATGGCGGGAGGTGGCAGGAGACGTGGGAGG TGGCAGGAGACGGTGGGAGGTGGTGGGAGACA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0055 a0002c0001t0002g0055	1	364	0.0028	631	c.127 others(646): Show c.1279-34_1279-33insTGTCTCCCACCACCTCCCACCGTCTCCTGC CACCTCCCACGTCTCCTGCCACCTCCCGCCATCTCCCGCCGCCTCCCTCC ACCTCCTGCCGTCTCCCACCGTCTCCCACCATCTCCGTCTCCCACCACTT CCCACCACCTCCCGCCATCTCCCACCACCTCCCGCCGTCTCCCACCACCT CCCACCATCTCCCACCGTCTCCCACCACCTCCCACCATCTCCCACGACCT CCCACCATCTGCCAGTGTCTCCCACTACCTCCCACCACATCCCACCTTCT CCGTCTCCCACCACCTCCCACCACCTCCCACCGTCTCCCACCACCTCCCG CCATCTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCACCATCTCCCA CCACCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCACCACATCCCA CCGTCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTACCACCTCCCA CCGTCTCCCACCACCTCCCACCACTTCCCACTGTCTCCCACCACCTCCCA CCGTCTGCCACCATCTCCCACCACCTCCCACTGTCTGCCACTGTCTCCCA CTACCTCCCACCATCTCCCACGACCTCCCACCATCTCCCACGACCTCCCA C	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding	7/12			chr19	TogoVar
DUS3L_chr19_5780140_5796163	5787204	G G	GGTGGGAG others(624): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTCGTGGGAGATGGTGGGAGGT AGTGGGAGACAGTGGCAGACAGTGGGAGGTGGTGGGAGATGGTGGCAGAC GGTGGGAGGTGGTGGGAGACAGTGGGAAGTGGTGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTAGGAGACGGTGGGAGGTGGTGGGAGACACTCGGAGAC GGTGGGATGTGGTGGGAGGTAGTGGGAGACATTGGCAGACGGTGGGAGGT GGTGGGAGATGGTGAGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAT GGCGGGAGGTGGTGGGAGACGGTGGGAGGTGGTGGGAGGTGGTGGGAGAC GGAGAAGGTGGGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTG GGAGGTCGTGGGAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGATGGTG GGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGATGGCGGGAGGTGGTG GGAAGTGGTGGGAGACGGAGATGGTGGGAGACGGTGGGAGACGGCGGGAG GTGGAGGGAGGCGGCGGGAGATGGCGGGAGGTGGCAGGAGACGTGGGAGG TGGCAGGAGACGGTGGGAGGTGGTGGGAGACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(161): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02135.hp1 HG02148.hp2 HG02165.hp2 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02602.hp1 HG02602.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18947.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18971.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18983.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19002.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19056.hp2 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19077.hp2 NA19079.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19091.hp2 NA20129.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0009	a0001c0006 a0002c0001 a0002c0009 others(3): Show a0001c0006 a0002c0001 a0002c0009 a0002c0013 a0006c0015 a0009c0012	a0001c0006t0001 a0002c0001t0002 a0002c0001t0003 others(4): Show a0001c0006t0001 a0002c0001t0002 a0002c0001t0003 a0002c0009t0002 a0002c0013t0002 a0006c0015t0002 a0009c0012t0002	a0001c0006t0001g0067 a0001c0006t0001g0068 a0002c0001t0002g0001 others(30): Show a0001c0006t0001g0067 a0001c0006t0001g0068 a0002c0001t0002g0001 a0002c0001t0002g0004 a0002c0001t0002g0007 a0002c0001t0002g0009 a0002c0001t0002g0010 a0002c0001t0002g0011 a0002c0001t0002g0020 a0002c0001t0002g0021 a0002c0001t0002g0023 a0002c0001t0002g0024 a0002c0001t0002g0034 a0002c0001t0002g0035 a0002c0001t0002g0036 a0002c0001t0002g0037 a0002c0001t0002g0038 a0002c0001t0002g0039 a0002c0001t0002g0045 a0002c0001t0002g0046 a0002c0001t0002g0048 a0002c0001t0002g0052 a0002c0001t0002g0053 a0002c0001t0002g0056 a0002c0001t0002g0057 a0002c0001t0002g0058 a0002c0001t0002g0059 a0002c0001t0002g0063 a0002c0001t0003g0025 a0002c0009t0002g0033 a0002c0013t0002g0047 a0006c0015t0002g0060 a0009c0012t0002g0054	164	364	0.4506	631	c.127 others(646): Show c.1279-34_1279-33insTGTCTCCCACCACCTCCCACCGTCTCCTGC CACCTCCCACGTCTCCTGCCACCTCCCGCCATCTCCCGCCGCCTCCCTCC ACCTCCCGCCGTCTCCCACCGTCTCCCACCATCTCCGTCTCCCACCACTT CCCACCACCTCCCGCCATCTCCCACCACCTCCCGCCGTCTCCCACCACCT CCCACCATCTCCCACCGTCTCCCACCACCTCCCACCATCTCCCACGACCT CCCACCATCTGCCAGTGTCTCCCACTACCTCCCACCACATCCCACCTTCT CCGTCTCCCACCACCTCCCACCACCTCCCACCGTCTCCCACCACCTCCCG CCATCTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCACCATCTCCCA CCACCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCACCACATCCCA CCGTCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTACCACCTCCCA CCGTCTCCCACCACCTCCCACCACTTCCCACTGTCTCCCACCACCTCCCA CCGTCTGCCACCATCTCCCACCACCTCCCACTGTCTGCCACTGTCTCCCA CTACCTCCCACCATCTCCCACGACCTCCCACCATCTCCCACGACCTCCCA C	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding	7/12			chr19	TogoVar
DUS3L_chr19_5780140_5796163	5787204	G G	GGTGGGAG others(624): Show GGTGGGAGGTGGTGGGAGATGGTGGGAGGTCGTGGGAGATGGTGGGAGGT AGTGGGAGACAGTGGCAGACAGTGGGAGGTGGTGGGAGATGGTGGCAGAC GGTGGGAGGTGGTGGGAGACAGTGGGAAGTGGTGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTAGGAGACGGTGGGAGGTGGTGGGAGACACTCGGAGAC GGTGGGATGTGGTGGGAGGTAGTGGGAGACATTGGCAGACGGTGGGAGGT GGTGGGAGATGGTGAGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAT GGCGGGAGGTGGTGGGAGACGGTGGGAGGTGGTGGGAGGTGGTGGGAGAC GGAGAAGGTGGGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTG GGAGGTCGTGGGAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGATGGTG GGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGATGGCGGGAGGTGGTG GGAAGTGGTGGGAGACGGAGATGGTGGGAGACGGTGGGAGACGGCGGGAG GTGGAGGGAGGCGGCGGGAGATGGCGGGAGGTGGCAGGAGACGTGGGAGG TGGCAGGAGACGGTGGGAGGTGGTGGGAGACA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01243.hp1 HG00738.hp2 HG01243.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0043 a0002c0001t0002g0044 a0002c0001t0002g0043 a0002c0001t0002g0044	2	364	0.0055	631	c.127 others(646): Show c.1279-34_1279-33insTGTCTCCCACCACCTCCCACCGTCTCCTGC CACCTCCCACGTCTCCTGCCACCTCCCGCCATCTCCCGCCGCCTCCCTCC ACCTCCCGCCGTCTCCCACCGTCTCCCACCATCTCCGTCTCCCACCACTT CCCACCACCTCCCGCCATCTCCCACCACCTCCCGCCGTCTCCCACCACCT CCCACCATCTCCCACCGTCTCCCACCACCTCCCACCATCTCCCACGACCT CCCACCATCTGCCAGTGTCTCCCACTACCTCCCACCACATCCCACCTTCT CCGTCTCCCACCACCTCCCACCACCTCCCACCGTCTCCCACCACCTCCCG CCATCTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCACCATCTCCCA CCACCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCACCACATCCCA CCGTCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTACCACCTCCCA CCGTCTCCCACCACCTCCCACCACTTCCCACTGTCTCCCACCACCTCCCA CCGTCTGCCACCATCTCCCACCACCTCCCACTGTCTGCCACTGTCTCCCA CTACCTCCCACCATCTCCCACGACCTCCCACCATCTCCCACCACCTCCCA C	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding	7/12			chr19	TogoVar
DYM_chr18_49031387_49465645	49440818	T T	TTATATAA others(624): Show TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATGACTATATATTATATATTTATATAATATATGGCTATATATTATATAT TTATATAATATATGGCTATATATTATATATTTATATAATATATGGCTATA TATTATATATTTATATAATATATGGCTATATATTATATATTTATATAATA TATGGCTATATATTATATATTTATATAATATATGACTATATATTATATAT TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATGACTATATATTATATATTTATATAATATATGACTATATATTATATAT TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATTTATATAAATACATTATATTTTATATA TTTATATAAATACATTATATTTTATATATTTATATAAATATATTATATTT TATATAATATATTATATATAATATATATAATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0155 a0001c0001t0003g0155	1	290	0.0035	631	c.-53 others(650): Show c.-53-10372_-53-10371insTATTATATATATTATATATAATATAT TATATAAAATATAATATATTTATATAAATATATAAAATATAATGTATTTA TATAAATATATAAAATATAATGTATTTATATAAATATATTATATAAATAT ATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATATT ATATAAATATATAATATATAGTCATATATTATATAAATATATAATATATA GTCATATATTATATAAATATATAATATATAGTCATATATTATATAAATAT ATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATATT ATATAAATATATAATATATAGTCATATATTATATAAATATATAATATATA GCCATATATTATATAAATATATAATATATAGCCATATATTATATAAATAT ATAATATATAGCCATATATTATATAAATATATAATATATAGCCATATATT ATATAAATATATAATATATAGCCATATATTATATAAATATATAATATATA GTCATATATTATATAAATATATAATATATAGTCATATATTATATAAATAT ATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATATT ATATA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
EXD3_chr9_137301896_137428162	137328340	T T	TATCATGA others(624): Show TATCATGAGTAAAAACAACTAATATACTCCCATATGATGAGTAAAAACAA CTAATATACACCCACATGATGAGTAAAAACAACGAATAAACACCCACATG ATGAGTAAAAACAATGAATATACACCCACATGAGTAAAAACAACTAATAT ACTCCCATATGACGAGTAAAAACAACGAATATACACCCACATGATGAGTA AAAACAACAAACACCCACATGATGAGTAAAAACAACTAATATACTCCCAC ATGATGAGTAAAAACAACTAATATACTCCCATATGATGAGTAAAAACAAC TAATATACACCCACATGATGAGTAAAACAACTAATATACTCCCATATAAT GAGTAAAACAACTAATATACTCCCATATGATGAGTAAAAACAATGAATAT ACACCCACATGATGAGTAAAAACAACTAATATACTCCCATATGATGAGTA AAAACAACAAGTACACACCCACATGATGAGTAAAAACAACTAATATACTC CCATATGATGAGTAAAAACAACAAGTACACACCCACATGATGAGTAAAAA CAACTAATATACACCAATATGATGAGTAAAAACAACTAATATACTCCCAT ATGATGAGTAAAAACAACGAATAAACACCCAC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02896.hp2 HG03017.hp2 others(4): Show HG01993.hp1 HG02896.hp2 HG03017.hp2 HG03139.hp2 HG03669.hp1 NA18747.hp1 NA18951.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0007 others(1): Show a0001c0001 a0002c0002 a0004c0007 a0005c0018	a0001c0001t0001 a0002c0002t0001 a0004c0007t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0004c0007t0001 a0005c0018t0001	a0001c0001t0001g0016 a0001c0001t0001g0043 a0001c0001t0001g0078 others(4): Show a0001c0001t0001g0016 a0001c0001t0001g0043 a0001c0001t0001g0078 a0001c0001t0001g0082 a0002c0002t0001g0045 a0004c0007t0001g0002 a0005c0018t0001g0029	7	82	0.0854	631	c.199 others(650): Show c.1999-4198_1999-4197insGTGGGTGTTTATTCGTTGTTTTTACT CATCATATGGGAGTATATTAGTTGTTTTTACTCATCATATTGGTGTATAT TAGTTGTTTTTACTCATCATGTGGGTGTGTACTTGTTGTTTTTACTCATC ATATGGGAGTATATTAGTTGTTTTTACTCATCATGTGGGTGTGTACTTGT TGTTTTTACTCATCATATGGGAGTATATTAGTTGTTTTTACTCATCATGT GGGTGTATATTCATTGTTTTTACTCATCATATGGGAGTATATTAGTTGTT TTACTCATTATATGGGAGTATATTAGTTGTTTTACTCATCATGTGGGTGT ATATTAGTTGTTTTTACTCATCATATGGGAGTATATTAGTTGTTTTTACT CATCATGTGGGAGTATATTAGTTGTTTTTACTCATCATGTGGGTGTTTGT TGTTTTTACTCATCATGTGGGTGTATATTCGTTGTTTTTACTCGTCATAT GGGAGTATATTAGTTGTTTTTACTCATGTGGGTGTATATTCATTGTTTTT ACTCATCATGTGGGTGTTTATTCGTTGTTTTTACTCATCATGTGGGTGTA TATTAGTTGTTTTTACTCATCATATGGGAGTATATTAGTTGTTTTTACTC ATGAT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
FKBP2_chr11_64236095_64249132	64237126	G G	GAGGGAGA others(624): Show GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGAGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGAGAGGAGGGAGAGGAGAGAGGGAGAGGGAGAGGAGAGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGGAGAGGGAGAGGGAGAGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGACAGACAGAGACAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	332	0.0030	631	c.-40 others(642): Show c.-4011_-4010insAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGAGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGAGAGGAGGGAGAGGAGAGAGGGAGAGGGAGAG GAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGA GGGAGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGGAGAGGGAGAGGGAGAGGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGACAGACAGAGACAGACA	FKBP2	ENSG00000173486.14	transcript	ENST00000309366.9	protein_coding		3968		chr11	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATGTAT others(624): Show GTATGTATATTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATATTTATATACATATAAATATA TATATTTATATACATATAAATATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATATTTATATACATATAAATATATATT TATATACATATAAATATATATTTATATACATATAAATATATATTTACATA CATATAAATATATATTTACATACATATAAATATATACATTTATATACATA TAAATATATACATATATACATATAAATATATATTTATATACATATAAATA TATATATTTATATATATTTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATATAAATATATATATATTTATA TATATATACATATAAATATATATTTATATACATATAAATATATAATTATA TACATATAAATATATAATTATATACATATAAATATATATAATTATATACA TATAAATATATATTTATATACATATAAATATATATTTATATACATATAAA TTTATATACATATAAATATAAATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0237 a0003c0003t0001g0237	1	292	0.0034	631	c.49 others(642): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAAATATATATTTATATG TATATAATTATATATATTTATATGTATATAATTATATATTTATATGTATA TAATTATATATTTATATGTATATAAATATATATTTATATGTATATATATA TAAATATATATATATTTATATATATATAAATATATATATATTTATATATA TATAAATATATATATATTTATATATATATAAATATATATAAATATATATA TTTATATGTATATAAATATATATTTATATGTATATATGTATATATTTATA TGTATATAAATGTATATATTTATATGTATGTAAATATATATTTATATGTA TGTAAATATATATTTATATGTATATAAATATATATTTATATGTATATAAA TATATATTTATATGTATATAAATATATATATTTATATGTATATAAATATA TATATTTATATGTATATAAATATATATATTTATATGTATATAAATATATA TATTTATATGTATATAAATATATATATTTATATGTATATAAATATATATA TTTATATGTATATAAATATATATATTTATATGTATATAATATACATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATGTAT others(624): Show GTATGTATATTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATATTTATATACATATAAATATATATT TATATACATATAAATATATATTTATATACATATAAATATATATATTTATA TACATATAAATATATATTTATATACATATAAATATATATATTTATATACA TATAAATATATATTTACATACATATAAATATATATTTACATACATATAAA TATATACATTTATATACATATAAATATATACATATATACATATAAATATA TATTTATATACATATAAATATATATATTTATATATATTTATATATATATA AATATATATATATTTGTATATATATATAAATATATATATATTTATATATA TATAAATATATATATATTTATATATATATACATATAAATATATATTTATA TACATATAAATATATAATTATATACATATAAATATATAATTATATACATA TAAATATATATAATTATATACATATAAATATATATTTATATACATATAAA TTTATATACATATAAATATAAATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0221 a0003c0003t0002g0221	1	292	0.0034	631	c.49 others(642): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATATACAAATATATATATATTTA TATATATATAAATATATATAAATATATATATTTATATGTATATAAATATA TATTTATATGTATATATGTATATATTTATATGTATATAAATGTATATATT TATATGTATGTAAATATATATTTATATGTATGTAAATATATATTTATATG TATATAAATATATATATTTATATGTATATAAATATATATTTATATGTATA TAAATATATATATTTATATGTATATAAATATATATTTATATGTATATAAA TATATATTTATATGTATATAAATATATATATTTATATGTATATAAATATA TATATTTATATGTATATAAATATATATTTATATGTATATAAATATATATA TTTATATGTATATAAATATATATATTTATATGTATATAATATACATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATGTAT others(624): Show GTATGTATATTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATATTTATA TACATATAAATATATATTTATATACATATAAATATATATATTTATATACA TATAAATATATATTTACATACATATAAATATATATTTACATACATATAAA TATATACATTTATATACATATAAATATATACATATATACATATAAATATA TATTTATATACATATAAATATATATATTTATATATATTTATATATATATA AATATATATATATTTGTATATATATATAAATATATATATATTTATATATA TATAAATATATATATATTTATATATATATACATATAAATATATATTTATA TACATATAAATATATAATTATATACATATAAATATATAATTATATACATA TAAATATATATAATTATATACATATAAATATATATTTATATACATATAAA TTTATATACATATAAATATAAATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 NA19091.hp2 HG02280.hp1 NA19091.hp2	a0005 a0012 a0005 a0012	a0005c0007 a0012c0032 a0005c0007 a0012c0032	a0005c0007t0002 a0012c0032t0002 a0005c0007t0002 a0012c0032t0002	a0005c0007t0002g0186 a0012c0032t0002g0066 a0005c0007t0002g0186 a0012c0032t0002g0066	2	292	0.0069	631	c.49 others(642): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATATACAAATATATATATATTTA TATATATATAAATATATATAAATATATATATTTATATGTATATAAATATA TATTTATATGTATATATGTATATATTTATATGTATATAAATGTATATATT TATATGTATGTAAATATATATTTATATGTATGTAAATATATATTTATATG TATATAAATATATATATTTATATGTATATAAATATATATTTATATGTATA TAAATATATATATTTATATGTATATAAATATATATATTTATATGTATATA AATATATATTTATATGTATATAAATATATATTTATATGTATATAAATATA TATATTTATATGTATATAAATATATATTTATATGTATATAAATATATATA TTTATATGTATATAAATATATATATTTATATGTATATAATATACATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATGTAT others(624): Show GTATGTATATTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATTTATATA CATATAAATATATATATTTATATACATATAAATATATATTTACATACATA TAAATATATATTTACATACATATAAATATATACATTTATATACATATAAA TATATACATATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATATTTATATATATTTATATATATATA AATATATATATATTTGTATATATATATAAATATATATATATTTATATATA TATAAATACATATATATTTATATATATATACATATAAATATATATTTATA TACATATAAATATATAATTATATACATATAAATATATAATTATATACATA TAAATATATATAATTATATACATATAAATATATATTTATATACATATAAA TTTATATACATATAAATATAAATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0223 a0004c0005t0002g0223	1	292	0.0034	631	c.49 others(642): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATGTATTTATATA TATATAAATATATATATATTTATATATATATACAAATATATATATATTTA TATATATATAAATATATATAAATATATATATTTATATGTATATAAATATA TATATTTATATGTATATAAATATATATTTATATGTATATATGTATATATT TATATGTATATAAATGTATATATTTATATGTATGTAAATATATATTTATA TGTATGTAAATATATATTTATATGTATATAAATATATATATTTATATGTA TATAAATATATATTTATATGTATATAAATATATATATTTATATGTATATA AATATATATTTATATGTATATAAATATATATTTATATGTATATAAATATA TATATTTATATGTATATAAATATATATTTATATGTATATAAATATATATA TTTATATGTATATAAATATATATATTTATATGTATATAATATACATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATGTAT others(624): Show GTATGTATATTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATTTATATA CATATAAATATATATATTTATATACATATAAATATATATTTACATACATA TAAATATATATTTACATACATATAAATATATACATTTATATACATATAAA TATATACATATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATATTTATATATATTTATATATATATA AATATATATATATTTGTATATATATATAAATATATATATATTTATATATA TATAAATATATATATATTTATATATATATACATATAAATATATATTTATA TACATATAAATATATAATTATATACATATAAATATATAATTATATACATA TAAATATATATAATTATATACATATAAATATATATTTATATACATATAAA TTTATATACATATAAATATAAATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0122 a0001c0004t0001g0122	1	292	0.0034	631	c.49 others(642): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATATACAAATATATATATATTTA TATATATATAAATATATATAAATATATATATTTATATGTATATAAATATA TATATTTATATGTATATAAATATATATTTATATGTATATATGTATATATT TATATGTATATAAATGTATATATTTATATGTATGTAAATATATATTTATA TGTATGTAAATATATATTTATATGTATATAAATATATATATTTATATGTA TATAAATATATATTTATATGTATATAAATATATATATTTATATGTATATA AATATATATTTATATGTATATAAATATATATTTATATGTATATAAATATA TATATTTATATGTATATAAATATATATTTATATGTATATAAATATATATA TTTATATGTATATAAATATATATATTTATATGTATATAATATACATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
IFFO2_chr1_18899280_18961676	18926017	A A	ATGGATGG others(624): Show ATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGA TGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATG GTTGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGAT GGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATG GATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATTGGTTGGTTGGTTGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATTGGATGGATTGGTTGGATGGATGGATGGATGGA TGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATTGGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	376	0.0027	631	c.666 others(648): Show c.666-4897_666-4896insACCAATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAACCA TCCATCCATCCATCCATCCATCCAACCAATCCATCCAATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCAACCAACCAACCAATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATC CATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCA ATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATC CAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCA TCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCCAT CCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33323151	T T	TATATACG others(624): Show TATATACGTATGGAATATATATATGGAATATATACGTATGGAATATATAT ATGGAATATATACGTATGGAATATATATATGGAATATATACGTATGGAAT ATATATATATGGAATATACGTATGGAATATATATATATGGAATATACGTA TGGAATATATATATATGGAATATACGTATGGAATATATATATATGGAATA TATATGTATGGAATATATATATGGAATATATATGTATGGAATATATATAT GGAATATATATGTATGGAATATATATATGGAATATATATGTATGGAATAT ATATGTATGGAATATATATGTATGGAATATATATATGGAATATATATGTA TGGAATATATATATGGAATATATATGTATGGAATATATATATGGAATATA TATATGGAATATATATGTATGGAATATATATATGGAATATATATGTATGG AATATACATATGGAATATATATGTTTGGAATATATATATATGGAATATAT ATGTATGGAATATATATATATGGAATATATGTATGGAATATATATATGGA ATATATGTATGGAATATATATATATGGAATATATGTATGGAATATATATA TATGGAATATATGTATGGAATATATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0040 a0002c0002t0040	a0002c0002t0040g0198 a0002c0002t0040g0198	1	323	0.0031	631	c.-19 others(642): Show c.-1905_-1904insATATACGTATGGAATATATATATGGAATATATAC GTATGGAATATATATATGGAATATATACGTATGGAATATATATATGGAAT ATATACGTATGGAATATATATATATGGAATATACGTATGGAATATATATA TATGGAATATACGTATGGAATATATATATATGGAATATACGTATGGAATA TATATATATGGAATATATATGTATGGAATATATATATGGAATATATATGT ATGGAATATATATATGGAATATATATGTATGGAATATATATATGGAATAT ATATGTATGGAATATATATGTATGGAATATATATGTATGGAATATATATA TGGAATATATATGTATGGAATATATATATGGAATATATATGTATGGAATA TATATATGGAATATATATATGGAATATATATGTATGGAATATATATATGG AATATATATGTATGGAATATACATATGGAATATATATGTTTGGAATATAT ATATATGGAATATATATGTATGGAATATATATATATGGAATATATGTATG GAATATATATATGGAATATATGTATGGAATATATATATATGGAATATATG TATGGAATATATATATATGGAATATATGTATGGAATATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1818		chr21	TogoVar
IQSEC3_chr12_61767_183455	103716	A A	ACTCAGGA others(624): Show ACTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCAGGGCTGGGGGGAGGT GGGGGCTCAGGAGGGGAGGTGGGGCTCAGGCAGGAGAGGTGGAGTTCAGG GGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCAGGGC TGGGGGGAGGTGGGGCTCAGGAGGGGAGGCGGGGCTCAGGCAGGAGAGGT GGGACTCAGGTGGGGAGGCAGGACTCAGGAGGGAGAGGTGGAGTTCAGGA GGGGAGGCGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGA CTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCGGGGCTCGGGGGGTAGG TGGGGGCTCAGGAGGGGAGGTAGGACTCAGGAGGGAGAGGTGGAGTTCAG GGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCT CAGGGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCG GGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGG GAGGCAGGGCTGGGGGGAGGTGGGGCTCAGGAGGGGAGGTGGGGCTCAGG CAGGAGAGGTGGAGTTCAGGGGGGAGGCGGGG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0252 a0003c0005t0002g0252	1	282	0.0036	631	c.623 others(648): Show c.623+4555_623+4556insGCTCAGGAGGGGAGGTGGGGCTCAGGCA GGAGAGGTGGAGTTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAG TTCGGGGGGAGGCAGGGCTGGGGGGAGGTGGGGCTCAGGAGGGGAGGCGG GGCTCAGGCAGGAGAGGTGGGACTCAGGTGGGGAGGCAGGACTCAGGAGG GAGAGGTGGAGTTCAGGAGGGGAGGCGGGGCTCGGGGGGTAGGTGGGGGC TCAGGAGGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGG CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTAGGACTCAGGA GGGAGAGGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCGGGAGGGGAGGCG GGGGCTCGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGA GAGGTGGAGTTCGGTGGGGAGGCAGGGCTGGGGGGAGGTGGGGCTCAGGA GGGGAGGTGGGGCTCAGGCAGGAGAGGTGGAGTTCAGGGGGGAGGCGGGG CTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCAGGGCTGGGGGGAGGTG GGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	163376	C C	CCACAGAA others(624): Show CCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCT CCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCAC AGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCC TCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTC CTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGG AGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCCCCCTC CTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTC CCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACA GAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCT CCCCCTCCTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGG ACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCCCCTCTCCTCC CTCCACAGAACTGGACCCCTCCCCTGTCCCCT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0022 a0002c0001t0022	a0002c0001t0022g0038 a0002c0001t0022g0038	1	282	0.0036	631	c.258 others(648): Show c.2584-107_2584-106insAGCCCTCCCCTCCCCTCCCTCCACAGAA CCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCC CTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGG AGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCCTCC CTCCACAGAACCGGAGCCCTCCCCTCCCCTCCCTCCACAGAACCGGAGCC CTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCC ACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCC CCTCCCCCTCCTCAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAAC CGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGAGCCCTCCCCTCCCC TCCCTCCACAGAACCGGAGCCCTCCCCTCTCCTCCCTCCACAGAACCGGA CCCCTCCCCTCCCCCTCCTCAGAACCGGACCCCTCCCCTCTCCTCCCTCC ACAGAACCGGACCCCTCCCCTCTCCTCCCTCCACAGAACCGGACCCCTCC CCTCTCCTCCCTCCACAGAACTGGACCCCTCCCCTGTCCCCTCACAGAAC CGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
JAKMIP3_chr10_132060946_132189858	132173157	T T	TCCCCCTC others(624): Show TCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCC TCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCGCTCC CCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCCCCCTCCCCCTCCCC CCCTCTCCCCTCCCCCTCTCTCCCCCTCTCCCCTCCCCCTCTCTCCCCCT CCCCCTCCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCTCTCTCCCCCT CCCCTCCCCCCTCTCTCTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCC CCTCCCCCCTCTCTCTCCCCCCCTCTCTCCCCCTCCCCCCTCCCCCTCCC CCATCCCCCTCCCCCATACCCCTCCCCCTCCCCTATCCCCCTCCCCCCTC CCCCTCCCCCTCCCCCATCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCC CCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCT CCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCT CCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCC CCTTCCCTCTCTCTCTCTCCCCCTCCTTCCCC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0039 a0002c0031t0039	a0002c0031t0039g0088 a0002c0031t0039g0088	1	158	0.0063	631	c.11 others(652): Show c.1103+4125_*1103+4126insCCCCTCCTTCCCTCTCTCTCTCCC CCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCTC CCCCTCCCCTCCCCCTCTCGCTCCCCCTCCCCCCTCTCTCTCCCCCTCCC CCCTCTCTCCCCCTCCCCCTCCCCCCCTCTCCCCTCCCCCTCTCTCCCCC TCTCCCCTCCCCCTCTCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCT CCCCTCCCCCCTCTCTCTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCC CCTCCCCCCTCTCTCTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCCCTCT CTCCCCCTCCCCCCTCCCCCTCCCCCATCCCCCTCCCCCATACCCCTCCC CCTCCCCTATCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCATCCCTCTCC CCCTCCCCCTCCTTCCCTCTCTCCCCCCCTCCTTCCCTCTCTCCCCCCTC CTTCCCTCTCTCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCT CCTTCCCTCTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCT CCTTCCCTCTGTCTCTCTCCCCCCCCTTCCCTCTCTCTCTCTCCCCCTCC TTCCCCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIF1A_chr2_240708767_240825219	240786702	G G	GCATCAGG others(624): Show GCATCAGGACCCCTGAGTAAAGGGGTGGGGGCTGCCTGCTGGGCCCCTGA GTGAGGGGTGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCC ACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTA AAGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGGGGTGGGGGCCGCC ATCAGGACCCCTGAGTGAGGGGGTGGGGGCCACCACCAGGACCCCTGAGG GGATGGGAGCCAGCATCAGGACCCCTGAGTAAAGGGGTGGGGGCTGCCTG CTGGGCCCCTGAGTGAGGGGTGGGGGCCGCCATCAGGACCCCTGAGTGAG AGGGTAGGGGCCACCATCAGGAACCCTGAGTGAGAGGGTGGGGGCCACCA TCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTG AGAGGGTAGGGGCCACCATCAGGAACCCTGAGTGAGAGGGTAGGGGCTGC CATCAGGACCCCTGAGAGAGAGGGTAGGGGCCACCATCAGGACCCCTGAG TGAGAGGGTAGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCA TCAGGACCCCTGAGTGAGAGGGTGGGGGCCAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03195.hp2 NA20300.hp2 HG02647.hp2 HG03195.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0010 a0001c0019t0010 a0001c0001t0010 a0001c0019t0010	a0001c0001t0010g0018 a0001c0019t0010g0003 a0001c0019t0010g0146 a0001c0001t0010g0018 a0001c0019t0010g0003 a0001c0019t0010g0146	3	330	0.0091	631	c.430 others(646): Show c.430-190_430-189insGTGGCCCCCACCCTCTCACTCAGGGGTCCT GATGCTGGCTCCCATCCCCTCAGGGGTCCTGGTGGTGGCCCCTACCCTCT CACTCAGGGGTCCTGATGGTGGCCCCTACCCTCTCTCTCAGGGGTCCTGA TGGCAGCCCCTACCCTCTCACTCAGGGTTCCTGATGGTGGCCCCTACCCT CTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCT GATGGTGGCCCCCACCCTCTCACTCAGGGTTCCTGATGGTGGCCCCTACC CTCTCACTCAGGGGTCCTGATGGCGGCCCCCACCCCTCACTCAGGGGCCC AGCAGGCAGCCCCCACCCCTTTACTCAGGGGTCCTGATGCTGGCTCCCAT CCCCTCAGGGGTCCTGGTGGTGGCCCCCACCCCCTCACTCAGGGGTCCTG ATGGCGGCCCCCACCCCTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCC TTTACTCAGGGGTCCTGATGCTGGCTCCCATCCCCTCAGGGGTCCTGGTG GTGGCCCCCACCCCCTCACTCAGGGGTCCTGATGGCGGCCCCCACCCCTC ACTCAGGGGCCCAGCAGGCAGCCCCCACCCCTTTACTCAGGGGTCCTGAT G	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
LHPP_chr10_124456823_124619141	124507236	G G	GGTAGACA others(624): Show GGTAGACAGGATTTCAGGTGGGGAGTAGGCAGGATTTCAGGTCGGGGGGG TAGACAGGATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGG TAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGT AGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTA GACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAG ACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGCGGGTAGAC AGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGCGGGTAGACAG GATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGCGGGTAGACAGGA TTTCAGGTGGGGGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATT TCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTT CAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGACAGGATTTC AGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGGGGTAGGCAGGATTTCAG GTCGGGGGGGTAGACAGGATTTCAGGTGGGGA	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	260	0.0039	631	c.624 others(648): Show c.624+9112_624+9113insACAGGATTTCAGGTGGGGAGTAGGCAGG ATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGGGGGTAGGGAGG ATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGA TTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGAT TTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATT TCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTT CAGGTGGGCGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCA GGTGGGCGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGG TGGGCGGGTAGACAGGATTTCAGGTGGGGGGGTAGACAGGATTTCAGGTG GGGGGATAGGGAGTATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGG GGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGG GGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGG GGTAGGCAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGAG TAG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LOC114841035_chr11_64236095_64249132	64237126	G G	GAGGGAGA others(624): Show GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGAGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGAGAGGAGGGAGAGGAGAGAGGGAGAGGGAGAGGAGAGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGGAGAGGGAGAGGGAGAGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGACAGACAGAGACAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	330	0.0030	631	c.-41 others(642): Show c.-4154_-4153insAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGAGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGAGAGGAGGGAGAGGAGAGAGGGAGAGGGAGAG GAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGA GGGAGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGGAGAGGGAGAGGGAGAGGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGACAGACAGAGACAGACA	LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding		3968		chr11	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(624): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAA GGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGG GAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCAGGGGGAAGGGGGAAAGGG GTGGGGGGAAAGGGGGAAGGGGAAAGGGGTGAGGGGAAAGGGGGAAGGGG GAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGGAGGG GAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGAG GGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGGGGGAAGGGAGGGGGGAGGGGAGGGGGAGGGAAGA GGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGGGAGGGAAGG GAGGGAGGGGAGGGGGAGGGAGGGGAGGGAGGGGAGGGGGAGGGAGGGGA GGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGGA GGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGG AGGGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0014 a0003c0003t0007g0014	1	272	0.0037	631	c.250 others(646): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCC CCTCCCCTCCCTCCCCCTCCCCTCCCTCCCCTCCCTCCCCCTCCCCTCCC TCCCTTCCCTCCCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCC CCTCTTCCCTCCCCCTCCCCTCCCCCCTCCCTTCCCCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCC CCCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCACCCCTT TCCCCCTTCCCCCTTTCCCCTCACCCCTTTCCCCTTCCCCCTTTCCCCCC ACCCCTTTCCCCCTTCCCCCTGCCCCTTTTCCCCCCTTCCCCGCCCCTTT TCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCT CCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCC T	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTCCCCT others(624): Show TCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCTCCC CTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTC CTCCCCTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCCTCCTCCCCTCCCCTCCCTCCCCTCCCCTCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCTCCCTCCTCCCCTCTCCTCCCCTCCTCCCC TCCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCT CCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTC CCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCAT CCCCTCCTCCCCTCCCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	140	0.0071	631	c.114 others(650): Show c.1142-1802_1142-1801insGTCTCCCCTCCCGTCTCCCCTCCCGT CTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCCCTCCCCTCCCCTC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCC CTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCTCCTCCCCTCTCC TCCCCTCCTCCCCTCCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCC TCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTC CCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCC CCTCCCCTCCCATCCCCTCCTCCCCTCCCCCTCCCCCCTCCTCCCCTCCC CTCCC	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(624): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATAT CATATATAAAAATTTATATATATCATATATAAAAATTTATATTTATATAT CATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTAT ATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0008	1	350	0.0029	631	c.-28 others(642): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAA ATTTATATTTATATATCATAAATAAAAATTTATATTTATATATCATATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATATATATCATATATAAAAATTTATATT TATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(624): Show CTGTATACAGCATGTATACTGTATACAGCATGTATACTGTATACAGCATG TATACTGTATACAGCATGTATACTGTATGTATGTATACTGTATGTATGTA TACTGTATGTATGTATACCGTATATATACACAGTATGTATACCGTATATA TACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATA CACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACA CAGTATGTATACTGTGTATATATACACAGTATGTATACTGCATACAGTAT GTATACTGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCA TGCAGTATGTATACTGTATACATACTGCATGCAGTATGTATACTGTATAT ATACACTATACAGTATGTATACTGTATATATACACTATACAGTATGTATA CTGTATATATACACAATACAGTATGTATACTGTATATATACACAATACAG TATGTATACTGTATATATACACACAGTATGTATACTGTATATATACACAC AGTATGTATACTGTATATATACACACAGTATGTATACTGTATATATACAC ACAGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0083 a0001c0001t0006g0083	1	362	0.0028	631	c.-75 others(650): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTATTGTGTATATATACAGTATACATACTGTATTGTGTATAT ATACAGTATACATACTGTATAGTGTATATATACAGTATACATACTGTATA GTGTATATATACAGTATACATACTGCATGCAGTATGTATACAGTATACAT ACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGTATGTATACA GTATACATACTGTATGCAGTATACATACTGTGTATATATACACAGTATAC ATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACAT ACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATAC TGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATACAT ACAGTATACATACATACAGTATACATACATACAGTATACATGCTGTATAC AGTATACATGCTGTATACAGTATACATGCTGTATACAGTATACATGCTGT ATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(624): Show AGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGG GGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGC CCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCC CAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTC AGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	155	0.0065	631	c.155 others(650): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC CCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCAC CTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(624): Show AGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGG GGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCG TCCAGGAGGGAGGTGGGGGGGGTCAACCCCCCCGCCCGGCCAGCCGCCCA GTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGTC AGCCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTC AGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0007 a0001c0001t0024g0007	1	155	0.0065	631	c.155 others(650): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGG GGGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTC CCGGACTGGGCGGCTGGCCGGGCGGGGGGGTTGACCCCCCCCACCTCCCT CCTGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGA CCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCAC CTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(624): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGC CCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCC CAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTC AGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGAGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0081	1	155	0.0065	631	c.155 others(650): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCTCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC CCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCAC CTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(624): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGC CCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCC CAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTC AGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02129.hp1 HG02698.hp1 others(2): Show HG01928.hp1 HG02129.hp1 HG02698.hp1 NA18970.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0001 a0001c0001t0026	a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0058 others(2): Show a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0058 a0001c0001t0001g0097 a0001c0001t0026g0056	5	155	0.0323	631	c.155 others(650): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC CCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCAC CTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(624): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCC CCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCC AGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCCGCCTGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTC AGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	155	0.0065	631	c.155 others(650): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGGCTGACCCCCCACCTCCCTCC CGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCT GGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCC CCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCAC CTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(624): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCC CCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCC AGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCG TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGG TCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTC AGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	155	0.0065	631	c.155 others(650): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCC CGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCT GGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCC CCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCAC CTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OSBPL5_chr11_3082107_3170310	3097061	A A	AAGAGGGG others(624): Show AAGAGGGGGAAGATGGGAAGGGGAGGAGAGGAAGGAGGGGGAAGATGGGA GGAGGAGAAGAGGAAAGGGGGGAAGATGGGAGGAGGAGAGGAAAGGGGGG AAGACGGGAGGAGGAGTGGAAAGAGGGGGAAGACGGGAGGAGGAGGAGAG GAAAGAGGGGGAAGACGGGAGGAGGAGGAGAGGAAAGAGGGGGAAGATGG GAGGAGGAGAGGAAAGGGGGGAAGACGGGAGGAGGAGAGGAAAGGGGGGA AGACGGGAGAAGGAGAGGAAAGAGGGGGAAGACGGGAGGAGGAGGAGAGG AAAGAGGGGGAAGATGGGAGGAGGAGAGGAAAGGGGGGAAGACGGGAGGA GGAGAGGAAAGAGGGGGAAGACGGGAGAAGGAGAGGAAAGAGGGGGAAGA CGGGAGGAGGAGGAGAGGAAAGAGGGGGAAGATGGGAGGAGGAGAGGAAA GAGGGGGAAGATGGGAGGAGGAGAGAAAAGAGGGGGAAGATGGGAGGGGG AGGAGAGGAAAGAGGGGGAAGACGGGAAGAGGAGAGGAAAGAGGGGGAAG ACGGGAGGAGGAGGAGAGGAAAGGGGGAAGACGGGAGGAGGAGGACAGGA AAGAGGGGGAAGATGGGAGGAGAAGAGGAAAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0005 a0001c0002t0009g0005	1	326	0.0031	631	c.162 others(650): Show c.1622-2728_1622-2727insCTTTCCTCTTCTCCTCCCATCTTCCC CCTCTTTCCTGTCCTCCTCCTCCCGTCTTCCCCCTTTCCTCTCCTCCTCC TCCCGTCTTCCCCCTCTTTCCTCTCCTCTTCCCGTCTTCCCCCTCTTTCC TCTCCTCCCCCTCCCATCTTCCCCCTCTTTTCTCTCCTCCTCCCATCTTC CCCCTCTTTCCTCTCCTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTC CTCCCGTCTTCCCCCTCTTTCCTCTCCTTCTCCCGTCTTCCCCCTCTTTC CTCTCCTCCTCCCGTCTTCCCCCCTTTCCTCTCCTCCTCCCATCTTCCCC CTCTTTCCTCTCCTCCTCCTCCCGTCTTCCCCCTCTTTCCTCTCCTTCTC CCGTCTTCCCCCCTTTCCTCTCCTCCTCCCGTCTTCCCCCCTTTCCTCTC CTCCTCCCATCTTCCCCCTCTTTCCTCTCCTCCTCCTCCCGTCTTCCCCC TCTTTCCTCTCCTCCTCCTCCCGTCTTCCCCCTCTTTCCACTCCTCCTCC CGTCTTCCCCCCTTTCCTCTCCTCCTCCCATCTTCCCCCCTTTCCTCTTC TCCTCCTCCCATCTTCCCCCTCCTTCCTCTCCTCCCCTTCCCATCTTCCC CCTCT	OSBPL5	ENSG00000021762.20	transcript	ENST00000263650.12	protein_coding	14/21			chr11	TogoVar
PARP10_chr8_143972158_143991460	143981916	T T	TGGTGGTG others(624): Show TGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGAC GACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGT GGTGAAGGTGATGGTGATGGTGGTGATGACAGTGAGTGGTGAGGGTCATG GTGATGGTGATGATGATGAGTGGGGATGATGGTGGTGATGGTGACTGTTG TGATGGTGATGGTGGTGATGGTGATGGTGGTGGTGATGACAGTGAGTGGT GAGGGTCATGGTGATGGTGATGATGATGATGAGTGGGGATGATTATGGTG ATGGTGGTGGTGATGGTGATTGTTGTGATGGTGATGGTGGTGATGACAGT GAGTGGTGAGGGTCATGGTGATGGTGATGGTGATGATGATGAGTGGGGAT GATTATGGTGATGGTGGTGGTGATGGTGACTGTTGTAATGGTGATGGTGG TGATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGAT GGTGGTGATGACAGTGAGTGGTGAGGGTCATGGTGATGGTGATGATGATG AGTGGGGATGGTGGTGATGGTGACTGTTGTGATGGTGATGGTGGTGATGG TGATGGTGGTGGTGACGACAGTGAGTGGTGAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp1 HG00735.hp2 others(17): Show HG00099.hp1 HG00597.hp1 HG00735.hp2 HG01243.hp1 HG02056.hp1 HG02155.hp1 HG02523.hp1 HG03704.hp1 HG03942.hp1 HG04228.hp1 NA18952.hp2 NA18954.hp1 NA18971.hp1 NA18986.hp2 NA18989.hp2 NA18994.hp2 NA19060.hp1 NA19084.hp1 NA19091.hp2 NA20129.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0002c0002t0004 a0003c0003t0001 a0002c0002t0002 a0002c0002t0004 a0003c0003t0001	a0002c0002t0002g0010 a0002c0002t0002g0250 a0002c0002t0002g0251 others(16): Show a0002c0002t0002g0010 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0266 a0002c0002t0002g0276 a0002c0002t0002g0280 a0002c0002t0002g0283 a0002c0002t0002g0284 a0002c0002t0004g0238 a0003c0003t0001g0077	20	380	0.0526	631	c.255 others(650): Show c.2556+1015_2556+1016insTTCACCACTCACTGTCGTCACCACCA CCATCACCATCACCACCATCACCATCACAACAGTCACCATCACCACCATC CCCACTCATCATCATCACCATCACCATGACCCTCACCACTCACTGTCATC ACCACCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCATCA CCATCACCACCATCACCATTACAACAGTCACCATCACCACCACCATCACC ATAATCATCCCCACTCATCATCATCACCATCACCATCACCATGACCCTCA CCACTCACTGTCATCACCACCATCACCATCACAACAATCACCATCACCAC CACCATCACCATAATCATCCCCACTCATCATCATCATCACCATCACCATG ACCCTCACCACTCACTGTCATCACCACCACCATCACCATCACCACCATCA CCATCACAACAGTCACCATCACCACCATCATCCCCACTCATCATCATCAC CATCACCATGACCCTCACCACTCACTGTCATCACCACCATCACCATCACC TTCACCACTCACTGTCGTCACCACCATCATCACCACCACCTTCACCACTC ACTGTCGTCACCACCATCATCACCACCACCTTCACCACTCACTGTCGTCA CCACC	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(624): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCAC CTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACC CTGCACCTCCCTCTCACCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCC TGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCC CCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCA CCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGC ACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCC CCCCTCACCCTGCACCTCCCTCTCACCCTGCACCTCCTCCCTCCCTCTCC CCCTCATCCTGCACCTCCCCCCTCCACACCCCCTCACCTCCCCCCACCTT CCACCTCCCCCCTCCACCTCCCCCCTCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	360	0.0028	631	c.35 others(642): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCC CCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTT ACCTCCCCCCTCACCCTGCACCTCCCTCTCACCCTGCACCTCCTCCCTCC CTCTCCCCCTCATCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCC CCACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCT CCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCC TCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCC CCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCACCCTGCACCT CCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACACCCCCTC ACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(624): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCAC CTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACC CTGCACCTCCCTCTCACCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCC TGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCC CCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCA CCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGC ACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCC CCCCTCACCCTGCACCTCCCTCTCACCCTGCACCTCCTCCCTCCCTCTCC CCCTCATCCTGCACCTCCCCCCTCCACACCCCCTCACCTCCCCCCACCTT CCACCTCCCCCCTCCACCTCCCCCCTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG04204.hp1 HG00738.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0261 a0001c0001t0001g0262	2	360	0.0056	631	c.35 others(642): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCC CCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTT ACCTCCCCCCTCACCCTGCACCTCCCTCTCACCCTGCACCTCCTCCCTCC CTCTCCCCCTCATCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCC CCACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCT CCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCC TCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCC CCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCACCCTGCACCT CCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACACCCCCTC ACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PDCD6_chr5_266646_319974	318069	T T	TCCCTTGC others(624): Show TCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCC CCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCCCCCCTCCAC CTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCC TCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTGCAC CTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCTCACC CTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCC TGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCCACCTCC CCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCCCCCTCA CCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCCCCCCGC ACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCC CCCCTCACCCTGCACCTCCCTCTCACCCTGCACCTCCTCCCTCCCTCTCC CCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTT CCACCTCCCCCCTCCACCTCCCCCCTCACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0010	1	360	0.0028	631	c.35 others(642): Show c.3554_*3555insCCCTTGCCCTGCACCTCCTCCCTCCCTCTCCCCC TCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCCACTTTCC ACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCACCTCCC CCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCCTCCACCTCC CCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTT ACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCC CTCTCCCCCTCATCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCC CCACTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCT CCACCTCCCCCCTCACCTCCCCCCTCACCCACCACCTCCCGCCCTCACCC TCCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCC CCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCACCCTGCACCT CCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTC ACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3096		chr5	TogoVar
PDE10A_chr6_165322289_165668241	165619422	G G	GTGTAGGC others(624): Show GTGTAGGCTAGTGTAGGCTAGTGTAGTGTAGTAGTGTAGTCTAGTGTAGT GTAGTCTAGTGTAGTCTAGTATAGTGTAGTATAGTCTAGTGTACTGTAGT GTAGTATAGTGTAGTCTAGTGTGGTGTGGTGTAGTGTAGTGTAGTCTAGT GTACTGTAGTGTAGTGCAGTGTAGTGTAGTACAGTCTAGTGTAGTCTAGT ATAGTGTAGTCCAGTGTAGTGTAGTGTAGTCTAGTGTAGTCTAGTGTACT GTAGTGTAGTGTAGTGTAGTCTAGTGTACTGTAGTGTAGTGTAGTGTAGT CTAGTGTAGTGTAGTCTAGTGTAGTCTAGTGTACTGTAGTGTAGTGTAGT CTAGTGTACTGTAGTGTAGTGCAGTGGTCTAGTGCAGTGTAGTCTAGTGT AGTACAGTCTAGTGTAGTCTAGTGTAGTGTAGTGTAGTCTAGTCTAGTGT AGTCTAGTGTAGTGTAGTCTAGTGTAGTCTAGTGTAGTGTAGTGTAGTCT AGTGTAGTCTAGTGTAGTCTAGTGTAGTGTAGTGTAGTCTAATGTAGTGT AGTGTAGTGTAGTCTAGCGTAGTGTACTGTAGTCTAGCGTAGTGTACTGT AGTCTAGCGTAGTGTACTGTAGTCTAGTGTAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0004 a0001c0004t0001g0004	1	222	0.0045	631	c.865 others(650): Show c.865+42524_865+42525insGTACACTAGACTACAGTACACTACGC TAGACTACAGTACACTACGCTAGACTACAGTACACTACGCTAGACTACAC TACACTACACTACATTAGACTACACTACACTACACTAGACTACACTAGAC TACACTAGACTACACTACACTACACTAGACTACACTAGACTACACTACAC TAGACTACACTAGACTAGACTACACTACACTACACTAGACTACACTAGAC TGTACTACACTAGACTACACTGCACTAGACCACTGCACTACACTACAGTA CACTAGACTACACTACACTACAGTACACTAGACTACACTAGACTACACTA CACTAGACTACACTACACTACACTACAGTACACTAGACTACACTACACTA CACTACAGTACACTAGACTACACTAGACTACACTACACTACACTGGACTA CACTATACTAGACTACACTAGACTGTACTACACTACACTGCACTACACTA CAGTACACTAGACTACACTACACTACACCACACCACACTAGACTACACTA TACTACACTACAGTACACTAGACTATACTACACTATACTAGACTACACTA GACTACACTACACTAGACTACACTACTACACTACACTAGCCTACACTAGC CTACA	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	1/21			chr6	TogoVar
PDE11A_chr2_177618244_178077777	177946685	G G	GGGGGGGG others(624): Show GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAAGGA GGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0009 a0005c0012t0009	a0005c0012t0009g0053 a0005c0012t0009g0053	1	170	0.0059	631	c.107 others(652): Show c.1072-41499_1072-41498insACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCC CCCCCACCTCCTTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCC	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	2/19			chr2	TogoVar
PIEZO1_chr16_88710338_88790220	88713084	C C	CCTGAGAG others(624): Show CCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATGCCCGAGAGCCCTTCCCCGGGCCCTGACCCCCACT CATGCCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCC TTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCG GGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTG ACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCAC TCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCC CCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGA GCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCC TTCCCCGGGCCCTGACCCCCACTCATACCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0098 a0001c0022t0001g0098	1	282	0.0036	631	c.25 others(642): Show c.2520_*2521insAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGG GGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTC TCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGG CATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGT GGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGCATGAGTGGGGGTCA GGGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCG GGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGG GGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTC GGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGCATGAG TGGGGGTCAGGGCCCGGGGAAGGGCTCTCGGGCATGAGTGGGGGTCAGGG CCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAA GGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGC TCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		2253		chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88713084	C C	CCTGAGAG others(624): Show CCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGC CCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCCTGAGAGCCCCCCTT CCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCCTTCCCCGGGCC CTGACCCCCACTCATGCCCGAGAGCCCTTCCCCGGGCCCTGACCCCCACT CATGCCCGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGA GAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATACCCGAGAGCCCCCC TTCCCTGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCG GGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTG ACCCCCACTCATGCCCCTGAGAGCCCCCTTCCCCGGGCCCTGACCCCCAC TCATGCCCCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCC CCTGAGAGCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGA GCCCCCCTTCCCCGGGCCCTGACCCCCACTCATGCCCCTGAGAGCCCCCC TTCCCCGGGCCCTGACCCCCACTCATACCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0097 a0001c0022t0001g0097	1	282	0.0036	631	c.25 others(642): Show c.2520_*2521insAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGG GGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTC TCAGGGGCATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGG CATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGT GGGGGTCAGGGCCCGGGGAAGGGGGCTCTCAGGGGCATGAGTGGGGGTCA GGGCCCGGGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCG GGGAAGGGGGGCTCTCAGGGGCATGAGTGGGGGTCAGGGCCCAGGGAAGG GGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTC GGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCGGGCATGAG TGGGGGTCAGGGCCCGGGGAAGGGCTCTCGGGCATGAGTGGGGGTCAGGG CCCGGGGAAGGGGGGCTCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAA GGGGGGCTCTCAGGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGC TCTCGGGTATGAGTGGGGGTCAGGGCCCGGGGAAGGGGGGCTCTCAG	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		2253		chr16	TogoVar
PLCB1_chr20_8127266_8889900	8662119	T T	TATATATA others(624): Show TATATATAATTATATGTAATTATATATAATTATATAATTATATAATTGTA TATAATATATAATTATATAATTATATATTATTTATTATATAATATATAAT TATATAATTATATATTATTTATTATATAATATATAATTATATAATTATAT ATTATTTATTATATAATTATATATTATTTATTATATATATTATTTATTAT ATAATTATATAATTATATATTATTTATTATATAATTATATATTATTTATT ATATAATATATAATTATATATTATTTATTATATAATATATAATTATATAT TATTTATTATATAATTATATATTATGTATTATATAATATATAATTATATA TTATGTATTATATAATTATATAATTATATATTATTTATTATATAATTATA TAATTATATATTATTTATTACATAATTATATATTATTTATTACATAAGTA TATATTATTTATTACATAAGTATATATCACTTATTATATAATTGCATATA ATTATTTATTATATAATTGCATATAATTATTTATTATATAATTGTATATA GTTATTTATTATATAATTCTATATAGTTATTTATTATATAATTCTATATA ATTATTTATTATCTAATTCTATATTATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0012 a0001c0008t0012	a0001c0008t0012g0104 a0001c0008t0012g0104	1	106	0.0094	631	c.862 others(648): Show c.862+3417_862+3418insATATAATTATATGTAATTATATATAATT ATATAATTATATAATTGTATATAATATATAATTATATAATTATATATTAT TTATTATATAATATATAATTATATAATTATATATTATTTATTATATAATA TATAATTATATAATTATATATTATTTATTATATAATTATATATTATTTAT TATATATATTATTTATTATATAATTATATAATTATATATTATTTATTATA TAATTATATATTATTTATTATATAATATATAATTATATATTATTTATTAT ATAATATATAATTATATATTATTTATTATATAATTATATATTATGTATTA TATAATATATAATTATATATTATGTATTATATAATTATATAATTATATAT TATTTATTATATAATTATATAATTATATATTATTTATTACATAATTATAT ATTATTTATTACATAAGTATATATTATTTATTACATAAGTATATATCACT TATTATATAATTGCATATAATTATTTATTATATAATTGCATATAATTATT TATTATATAATTGTATATAGTTATTTATTATATAATTCTATATAGTTATT TATTATATAATTCTATATAATTATTTATTATCTAATTCTATATTATATAT AAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar

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