Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MEX3D_chr19_1549672_1573325	1550007	C C	CCCATCCA others(593): Show CCCATCCACCTGTTCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCACCAACCCTCCCATCCATCCACCCATCCATCCACCTG TCCACCCATCCACCCATTCATCCACCCACCCACCCATCCATCCATCCATC CACCCATCCATTCACTCACCTGCCCATCCACCCATCCATTCACTCACCTG CCCATCCACCCATCCATGCACTCACCTGCCTATCCATCAATCCATCCATC CATCCATCCATCCATCCATCCATCCAATCATCCACCCACCCATCCATCCA TCCATCCAACCATCCACCCACTCATCTATCCATCCATCCATCCATCCATC CATCCATTTACCCACCCTCTCATCCATCCACCCACCCATCCACTTGTCCA CCCATCCACCTGTTCACCCATCCACCCATCCATCCATCCATCCAACCATC CACCCATCTATCCATCCATCCATCCAACCACTCATCCGTCCATCCATCCA TCCATCCATCCATTTACCCACTCTCCCATCCACCCACCCATCGACTTGTC CACCCATACACCTGTTCACCCATCCACCCATCCATCCATCCATCCATCCA A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0012 a0001c0002t0004g0012	1	372	0.0027	600	c.55 others(611): Show c.5555_*5556insTTGGATGGATGGATGGATGGATGGGTGGATGGGT GAACAGGTGTATGGGTGGACAAGTCGATGGGTGGGTGGATGGGAGAGTGG GTAAATGGATGGATGGATGGATGGATGGACGGATGAGTGGTTGGATGGAT GGATGGATAGATGGGTGGATGGTTGGATGGATGGATGGATGGGTGGATGG GTGAACAGGTGGATGGGTGGACAAGTGGATGGGTGGGTGGATGGATGAGA GGGTGGGTAAATGGATGGATGGATGGATGGATGGATGGATAGATGAGTGG GTGGATGGTTGGATGGATGGATGGATGGGTGGGTGGATGATTGGATGGAT GGATGGATGGATGGATGGATGGATGGATTGATGGATAGGCAGGTGAGTGC ATGGATGGGTGGATGGGCAGGTGAGTGAATGGATGGGTGGATGGGCAGGT GAGTGAATGGATGGGTGGATGGATGGATGGATGGGTGGGTGGGTGGATGA ATGGGTGGATGGGTGGACAGGTGGATGGATGGGTGGATGGATGGGAGGGT TGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATGAACAGGTGGATGG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4664		chr19	TogoVar
MEX3D_chr19_1549672_1573325	1550007	C C	CCCATCCA others(593): Show CCCATCCACCTGTTCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCACCAACCCTCCCATCCATCCACCCATCCATCCACCTG TCCACCCATCCACCCATTCATCCACCCACCCACCCATCCATCCATCCATC CACCCATCCATTCACTCACCTGCCCATCCACCCATCCATTCACTCACCTG CCCATCCACCCATCCATGCACTCACCTGCCTATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCAATCATCCACCCACCCATCCATCCA TCCATCCAACCATCCACCCACTCATCTATCCATCCATCCATCCATCCATC CATCCATTTACCCACCCTCTCATCCATCCACCCACCCATCCACTTGTCCA CCCATCCACCTGTTCACCCATCCACCCATCCATCCATCCATCCAACCATC CACCCATCTATCCATCCATCCATCCAACCACTCATCCGTCCATCCATCCA TCCATCCATCCATTTACCCACTCTCCCATCCACCCACCCATCGACTTGTC CACCCATACACCTGTTCACCCATCCACCCATCCATCCATCCATCCATCCA A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00558.hp1 others(41): Show HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00741.hp2 HG01168.hp2 HG01169.hp2 HG01952.hp2 HG02040.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02738.hp2 HG03017.hp2 HG03453.hp1 HG03927.hp1 HG06807.hp2 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18945.hp2 NA18950.hp2 NA18951.hp2 NA18961.hp2 NA18962.hp1 NA18974.hp1 NA18984.hp1 NA18989.hp1 NA18989.hp2 NA19000.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19091.hp2 NA20300.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0021 others(3): Show a0001c0001 a0001c0002 a0001c0021 a0002c0005 a0002c0011 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0020 a0001c0021t0002 a0002c0005t0002 a0002c0011t0002 a0006c0009t0004	a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0149 others(35): Show a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0149 a0001c0001t0002g0037 a0001c0001t0002g0102 a0001c0001t0002g0219 a0001c0001t0003g0019 a0001c0001t0003g0036 a0001c0001t0003g0153 a0001c0001t0007g0190 a0001c0002t0002g0127 a0001c0002t0004g0003 a0001c0002t0004g0012 a0001c0002t0004g0013 a0001c0002t0004g0024 a0001c0002t0004g0028 a0001c0002t0004g0041 a0001c0002t0004g0055 a0001c0002t0004g0057 a0001c0002t0004g0058 a0001c0002t0004g0082 a0001c0002t0004g0090 a0001c0002t0004g0091 a0001c0002t0004g0103 a0001c0002t0004g0105 a0001c0002t0004g0108 a0001c0002t0004g0109 a0001c0002t0004g0123 a0001c0002t0004g0128 a0001c0002t0004g0232 a0001c0002t0007g0115 a0001c0002t0020g0233 a0001c0021t0002g0094 a0002c0005t0002g0135 a0002c0011t0002g0157 a0002c0011t0002g0164 a0006c0009t0004g0110 a0006c0009t0004g0113	44	372	0.1183	600	c.55 others(611): Show c.5555_*5556insTTGGATGGATGGATGGATGGATGGGTGGATGGGT GAACAGGTGTATGGGTGGACAAGTCGATGGGTGGGTGGATGGGAGAGTGG GTAAATGGATGGATGGATGGATGGATGGACGGATGAGTGGTTGGATGGAT GGATGGATAGATGGGTGGATGGTTGGATGGATGGATGGATGGGTGGATGG GTGAACAGGTGGATGGGTGGACAAGTGGATGGGTGGGTGGATGGATGAGA GGGTGGGTAAATGGATGGATGGATGGATGGATGGATGGATAGATGAGTGG GTGGATGGTTGGATGGATGGATGGATGGGTGGGTGGATGATTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATAGGCAGGTGAGTGC ATGGATGGGTGGATGGGCAGGTGAGTGAATGGATGGGTGGATGGGCAGGT GAGTGAATGGATGGGTGGATGGATGGATGGATGGGTGGGTGGGTGGATGA ATGGGTGGATGGGTGGACAGGTGGATGGATGGGTGGATGGATGGGAGGGT TGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATGAACAGGTGGATGG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4664		chr19	TogoVar
MEX3D_chr19_1549672_1573325	1550007	C C	CCCATCCA others(593): Show CCCATCCACCTGTTCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCACCAACCCTCCCATCCATCCACCCATCCATCCACCTG TCCACCCATCCACCCATTCATCCACCCACCCACCCATCCATCCATCCATC CACCCATCCATTCACTCACCTGCCCATCCACCCATCTATTCACTCACCTG CCCATCCACCCATCCATGCACTCACCTGCCTATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCAATCATCCACCCACCCATCCATCCA TCCATCCAACCATCCACCCACTCATCTATCCATCCATCCATCCATCCATC CATCCATTTACCCACCCTCTCATCCATCCACCCACCCATCCACTTGTCCA CCCATCCACCTGTTCACCCATCCACCCATCCATCCATCCATCCAACCATC CACCCATCTATCCATCCATCCATCCAACCACTCATCCGTCCATCCATCCA TCCATCCATCCATTTACCCACTCTCCCATCCACCCACCCATCGACTTGTC CACCCATACACCTGTTCACCCATCCACCCATCCATCCATCCATCCATCCA A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01070.hp2 HG00642.hp1 HG01070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0015 a0001c0002t0004g0015	2	372	0.0054	600	c.55 others(611): Show c.5555_*5556insTTGGATGGATGGATGGATGGATGGGTGGATGGGT GAACAGGTGTATGGGTGGACAAGTCGATGGGTGGGTGGATGGGAGAGTGG GTAAATGGATGGATGGATGGATGGATGGACGGATGAGTGGTTGGATGGAT GGATGGATAGATGGGTGGATGGTTGGATGGATGGATGGATGGGTGGATGG GTGAACAGGTGGATGGGTGGACAAGTGGATGGGTGGGTGGATGGATGAGA GGGTGGGTAAATGGATGGATGGATGGATGGATGGATGGATAGATGAGTGG GTGGATGGTTGGATGGATGGATGGATGGGTGGGTGGATGATTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATAGGCAGGTGAGTGC ATGGATGGGTGGATGGGCAGGTGAGTGAATAGATGGGTGGATGGGCAGGT GAGTGAATGGATGGGTGGATGGATGGATGGATGGGTGGGTGGGTGGATGA ATGGGTGGATGGGTGGACAGGTGGATGGATGGGTGGATGGATGGGAGGGT TGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATGAACAGGTGGATGG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4664		chr19	TogoVar
MEX3D_chr19_1549672_1573325	1550015	C C	CCTGTTCA others(593): Show CCTGTTCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CACCAACCCTCCCATCCATCCACCCATCCATCCACCTGTCCACCCATCCA CCCATTCATCCACCCACCCACCCATCCATCCATCCATCCACCCATCCATT CACTCACCTGCCCATCCACCCATCCATTCACTCACCTGCCCATCCACCCA TCCATGCACTCACCTGCCTATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAATCATCCACCCACCCATCCATCCATCCATCCAACCATCCA CCCACTCATCTATCCATCCATCCATCCATCCATCCATCCATTTACCCACC CTCTCATCCATCCACCCACCCATCCACTTGTCCACCCATCCACCTGTTCA CCCATCCACCCATCCATCCATCCATCCAACCATCCACCCATCTATCCATC CATCCATCCAACCACTCATCCGTCCATCCATCCATCCATCCATCCATTTA CCCACTCTCCCATCCACCCACCCATCGACTTGTCCACCCATACACCTGTT CACCCATCCACCCATCCATCCATCCATCCATCCAACCATCCACCCATCCA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03209.hp1 HG03041.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0059 a0001c0001t0001g0001 a0001c0001t0003g0059	2	372	0.0054	600	c.55 others(611): Show c.5547_*5548insATGGATGGGTGGATGGTTGGATGGATGGATGGAT GGATGGGTGGATGGGTGAACAGGTGTATGGGTGGACAAGTCGATGGGTGG GTGGATGGGAGAGTGGGTAAATGGATGGATGGATGGATGGATGGACGGAT GAGTGGTTGGATGGATGGATGGATAGATGGGTGGATGGTTGGATGGATGG ATGGATGGGTGGATGGGTGAACAGGTGGATGGGTGGACAAGTGGATGGGT GGGTGGATGGATGAGAGGGTGGGTAAATGGATGGATGGATGGATGGATGG ATGGATAGATGAGTGGGTGGATGGTTGGATGGATGGATGGATGGGTGGGT GGATGATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAG GCAGGTGAGTGCATGGATGGGTGGATGGGCAGGTGAGTGAATGGATGGGT GGATGGGCAGGTGAGTGAATGGATGGGTGGATGGATGGATGGATGGGTGG GTGGGTGGATGAATGGGTGGATGGGTGGACAGGTGGATGGATGGGTGGAT GGATGGGAGGGTTGGTGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGAACAG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4656		chr19	TogoVar
MEX3D_chr19_1549672_1573325	1550015	C C	CCTGTTCA others(593): Show CCTGTTCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CACCAACCCTCCCATCCATCCACCCATCCATCCACCTGTCCACCCATCCA CCCATTCATCCACCCACCCACCCATCCATCCATCCATCCACCCATCCATT CACTCACCTGCCCATCCACCCATCCATTCACTCACCTGCCCATCCACCCA TCCATGCACTCACCTGCCTATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAATCATCCACCCACCCATCCATCCATCCATCCAACCA TCCACCCACTCATCTATCCATCCATCCATCCATCCATCCATCCATTTACC CACCCTCTCATCCATCCACCCACCCATCCACTTGTCCACCCATCCACCTG TTCACCCATCCACCCATCCATCCATCCATCCAACCATCCACCCATCTATC CATCCATCCATCCAACCACTCATCCGTCCATCCATCCATCCATCCATCCA TTTACCCACTCTCCCATCCACCCACCCATCGACTTGTCCACCCATACACC TGTTCACCCATCCACCCATCCATCCATCCATCCATCCAACCATCCACCCA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG01993.hp2 NA18986.hp2 HG00741.hp1 HG01993.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0033 a0001c0003t0002 a0001c0001t0002 a0001c0001t0033 a0001c0003t0002	a0001c0001t0002g0006 a0001c0001t0033g0243 a0001c0003t0002g0148 a0001c0001t0002g0006 a0001c0001t0033g0243 a0001c0003t0002g0148	3	372	0.0081	600	c.55 others(611): Show c.5547_*5548insATGGGTGGATGGTTGGATGGATGGATGGATGGAT GGGTGGATGGGTGAACAGGTGTATGGGTGGACAAGTCGATGGGTGGGTGG ATGGGAGAGTGGGTAAATGGATGGATGGATGGATGGATGGACGGATGAGT GGTTGGATGGATGGATGGATAGATGGGTGGATGGTTGGATGGATGGATGG ATGGGTGGATGGGTGAACAGGTGGATGGGTGGACAAGTGGATGGGTGGGT GGATGGATGAGAGGGTGGGTAAATGGATGGATGGATGGATGGATGGATGG ATAGATGAGTGGGTGGATGGTTGGATGGATGGATGGATGGGTGGGTGGAT GATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAG GCAGGTGAGTGCATGGATGGGTGGATGGGCAGGTGAGTGAATGGATGGGT GGATGGGCAGGTGAGTGAATGGATGGGTGGATGGATGGATGGATGGGTGG GTGGGTGGATGAATGGGTGGATGGGTGGACAGGTGGATGGATGGGTGGAT GGATGGGAGGGTTGGTGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGAACAG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4656		chr19	TogoVar
MEX3D_chr19_1549672_1573325	1550015	C C	CCTGTTCA others(593): Show CCTGTTCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCACCAACCCTCCCATCCATCCACCCATCCATCCACCTGTCCACCCA TCCACCCATTCATCCACCCACCCACCCATCCATCCATCCATCCACCCATC CATTCACTCACCTGCCCATCCACCCATCCATTCACTCACCTGCCCATCCA CCCATCCATGCACTCACCTGCCTATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAATCATCCACCCACCCATCCATCCATCCATCCAACCA TCCACCCACTCATCTATCCATCCATCCATCCATCCATCCATCCATTTACC CACCCTCTCATCCATCCACCCACCCATCCACTTGTCCACCCATCCACCTG TTCACCCATCCACCCATCCATCCATCCATCCAACCATCCACCCATCTATC CATCCATCCATCCAACCACTCATCCGTCCATCCATCCATCCATCCATCCA TTTACCCACTCTCCCATCCACCCACCCATCGACTTGTCCACCCATACACC TGTTCACCCATCCACCCATCCATCCATCCATCCATCCAACCATCCACCCA T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	372	0.0027	600	c.55 others(611): Show c.5547_*5548insATGGGTGGATGGTTGGATGGATGGATGGATGGAT GGGTGGATGGGTGAACAGGTGTATGGGTGGACAAGTCGATGGGTGGGTGG ATGGGAGAGTGGGTAAATGGATGGATGGATGGATGGATGGACGGATGAGT GGTTGGATGGATGGATGGATAGATGGGTGGATGGTTGGATGGATGGATGG ATGGGTGGATGGGTGAACAGGTGGATGGGTGGACAAGTGGATGGGTGGGT GGATGGATGAGAGGGTGGGTAAATGGATGGATGGATGGATGGATGGATGG ATAGATGAGTGGGTGGATGGTTGGATGGATGGATGGATGGGTGGGTGGAT GATTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGGCAG GTGAGTGCATGGATGGGTGGATGGGCAGGTGAGTGAATGGATGGGTGGAT GGGCAGGTGAGTGAATGGATGGGTGGATGGATGGATGGATGGGTGGGTGG GTGGATGAATGGGTGGATGGGTGGACAGGTGGATGGATGGGTGGATGGAT GGGAGGGTTGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGAACAG	MEX3D	ENSG00000181588.17	transcript	ENST00000402693.5	protein_coding		4656		chr19	TogoVar
MFSD3_chr8_144504070_144516213	144513800	T T	TGAGGAGG others(593): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGG TCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGG TCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAG A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	600	c.26 others(611): Show c.2636_*2637insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTG GGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGC CTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGC GTGGGCGGTGGGGAGA	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2588		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513834	A A	GAGGGGTC others(593): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAG GAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGTAGGGGTCGGCGTGGGCGGT GGGGAGTGAGTAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGTAGGGGTCGGCGTGGGCGGTGGGGAGTGAG T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	600	c.26 others(610): Show c.2670delAinsGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGG CGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGTAGGGG TCGGCGTGGGCGGTGGGGAGTGAGTAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGTAGGGGTCGGCGTGGG CGGTGGGGAGTGAGT	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2621		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513834	A A	GAGGGGTC others(593): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGG CCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	600	c.26 others(610): Show c.2670delAinsGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAG TGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGT	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2621		chr8	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(593): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGAAG GAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAG GGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGG GGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGG GGGAAGGGGAAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGG GGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGTAGGGGGGAGGTGGAGGGG AGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGAAGAGGGGG AGGGGGAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGGAGGGAAGGGAGGG AGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGA GGGATGGGAGTGGAGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGG AGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAGGGTG G	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0194 a0001c0001t0003g0194	1	272	0.0037	600	c.250 others(615): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCC TCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTCTCCCT CCCTTCCCTCCCCCTCCCCCTCCCCCTCTTCCCTCCCCCTCCCCTCCCCC TCCCCCCTCCCCCTCCCCCCTCCCCTCCACCTCCCCCCTACCCTCCCCCT CCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCC CTCACCCCTTTTCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCC CCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCC CCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTT CCGCCTTCCTCCTTCCCCCTCCTTCCCCTCCTTCCCCCTCCTTCCCCCTC CTTCCCCCTCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MRPL28_chr16_361969_375538	370393	A A	ACCCCGGC others(593): Show ACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACC CGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCA CCCCCTATCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCT CACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCT CTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGC TCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCC CGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCTCCTACCCCGGC CCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCC GGCCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGGCTCTCACTCCCTA C	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	394	0.0025	600	c.-8+ others(613): Show c.-8+105_-8+106insGTAGGGAGTGAGAGCCCGGGGGCCGGGGGTAG CGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGT AGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGG GTAGGGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCC GGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGG GCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGG GGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCG GGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGC CGGGGGCCGGGATAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGA GCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGA GAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MTTP_chr4_99569824_99628997	99588955	A A	ACATATAT others(593): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATATATATTC ATATATATGTTCATATATATATTCATATATATGTTCATATATATTCATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCAT ATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTC ATATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGT TCATATATATATGTTCATATATATGTTCATATATATATGTTCATATATAT GTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATATAT ATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATAT ATATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCAT ATATATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTC ATATATATGTTCATATATATATGTTCATATATATGTTCATATATATATGT T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	364	0.0028	600	c.394 others(615): Show c.394-666_394-665insTTCATATATATATGTTCATATATATTCATA TATATGTTCATATATATATTCATATATATGTTCATATATATTCATATATA TGTTCATATATATATTCATATATATATGTTCATATATATATTCATATATA TATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATATA TATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCATA TATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTTCA TATATATATGTTCATATATATGTTCATATATATATGTTCATATATATGTT CATATATATATGTTCATATATATGTTCATATATATATGTTCATATATATG TTCATATATATATGTTCATATATATGTTCATATATATATGTTCATATATA TGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATATA TATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATA TATATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCA TATATATGTTCATATATATA	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MUC5AC_chr11_1152953_1206138	1154549	C C	CACCCACT others(593): Show CACCCACTCACTCACTCACCCACTCACTTATTCACTCACTCACCCACTCA CTTATTCACCCATTCACTCATTCATTCACCCATTCACTCACTCACTTATT CACTCACTCTCTCACTCATTCATTAATTCGCCCATTCACTCACACTTTCA CTCACTCACTTATTCACTCATACACTCATTCACTTATTTACTCACTCATT CACTCACTCATTAATTCACCCATTCACTCACTCACTTATTCACTCATAGA CTCATACACTCACTCATTCACTCACGCATCCACTCATTCACTCACTCATT TACCCACTCACTCACTCACCCACTCACTTATTCACTCACTCACCCACTCA CTTATTCACCCATTCACCCATTCACTCACCCATTCACTCACTCACTTATT CACTCACTCTCTCACTCATTCATTAATTCGCCCATTCACTCACACTTTCA CTCACTCACTTATTCACTCATACACTCATTCACTTATTTACTCACTCATT CACTCACTCATTAATTCACCCATTCACTCACTCACTTATTCACTCATAGA CTCATACACTCACTCATTCACTCACGCATCCACTCATTCACTCACTCATT T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG01981.hp1 HG02004.hp2 others(2): Show HG01934.hp2 HG01981.hp1 HG02004.hp2 HG02148.hp1 HG02300.hp1	a0002 a0002	a0002c0005 a0002c0107 a0002c0005 a0002c0107	a0002c0005t0001 a0002c0107t0001 a0002c0005t0001 a0002c0107t0001	a0002c0005t0001g0009 a0002c0005t0001g0089 a0002c0005t0001g0090 others(1): Show a0002c0005t0001g0009 a0002c0005t0001g0089 a0002c0005t0001g0090 a0002c0107t0001g0009	5	292	0.0171	600	c.-34 others(611): Show c.-3451_-3450insACCCACTCACTCACTCACCCACTCACTTATTCAC TCACTCACCCACTCACTTATTCACCCATTCACTCATTCATTCACCCATTC ACTCACTCACTTATTCACTCACTCTCTCACTCATTCATTAATTCGCCCAT TCACTCACACTTTCACTCACTCACTTATTCACTCATACACTCATTCACTT ATTTACTCACTCATTCACTCACTCATTAATTCACCCATTCACTCACTCAC TTATTCACTCATAGACTCATACACTCACTCATTCACTCACGCATCCACTC ATTCACTCACTCATTTACCCACTCACTCACTCACCCACTCACTTATTCAC TCACTCACCCACTCACTTATTCACCCATTCACCCATTCACTCACCCATTC ACTCACTCACTTATTCACTCACTCTCTCACTCATTCATTAATTCGCCCAT TCACTCACACTTTCACTCACTCACTTATTCACTCATACACTCATTCACTT ATTTACTCACTCATTCACTCACTCATTAATTCACCCATTCACTCACTCAC TTATTCACTCATAGACTCATACACTCACTCATTCACTCACGCATCCACTC ATTCACTCACTCATTT	MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding		3403		chr11	TogoVar
MUC5AC_chr11_1152953_1206138	1154623	T T	TTCACCCA others(593): Show TTCACCCATTCACTCACTCACTTATTCACTCACTCTCTCACTCATTCATT AATTCGCCCATTCACTCACACTTTCACTCACTCACTTATTCACTCATACA CTCATTCACTTATTTACTCACTCATTCACTCACTCATTAATTCACCCATT CACTCACTCACTTATTCACTCATAGACTCATACACTCACTCATTCACTCA CGCATCCACTCATTCACTCACTCATTTACCCACTCACTCACTCACCCACT CACTTATTCACTCACTCACCCACTCACTTATTCACCCATTCACCCATTCA CTCACCCATTCACTCACTCACTTATTCACTCACTCTCTCACTCATTCATT AATTCGCCCATTCACTCACACTTTCACTCACTCACTTATTCACTCATACA CTCATTCACTTATTTACTCACTCATTCACTCACTCATTAATTCACCCATT CACTCACTCACTTATTCACTCATAGACTCATACACTCACTCATTCACTCA CGCATCCACTCATTCACTCACTCATTTACCCACTCACTCACTCACCCACT CACTTATTCACTCACTCACCCACTCACTTATTCACCCATTCACCCATTCA C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0025 a0001c0004t0001g0025	1	292	0.0034	600	c.-33 others(611): Show c.-3377_-3376insTCACCCATTCACTCACTCACTTATTCACTCACTC TCTCACTCATTCATTAATTCGCCCATTCACTCACACTTTCACTCACTCAC TTATTCACTCATACACTCATTCACTTATTTACTCACTCATTCACTCACTC ATTAATTCACCCATTCACTCACTCACTTATTCACTCATAGACTCATACAC TCACTCATTCACTCACGCATCCACTCATTCACTCACTCATTTACCCACTC ACTCACTCACCCACTCACTTATTCACTCACTCACCCACTCACTTATTCAC CCATTCACCCATTCACTCACCCATTCACTCACTCACTTATTCACTCACTC TCTCACTCATTCATTAATTCGCCCATTCACTCACACTTTCACTCACTCAC TTATTCACTCATACACTCATTCACTTATTTACTCACTCATTCACTCACTC ATTAATTCACCCATTCACTCACTCACTTATTCACTCATAGACTCATACAC TCACTCATTCACTCACGCATCCACTCATTCACTCACTCATTTACCCACTC ACTCACTCACCCACTCACTTATTCACTCACTCACCCACTCACTTATTCAC CCATTCACCCATTCAC	MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding		3329		chr11	TogoVar
MUSK_chr9_110663791_110811558	110690701	T T	TATATATA others(593): Show TATATATATTTATATATAAGTATATATATAAATATATATATTTATATATA AGTATATATATATATATTTATATATAAGTATATATAAATATATATATTTA TATATAAGTATATATATATATTTATATATAAGTATATATATATTTATATA TAAGTATATATATATATTCATATATAAGTATATATATAAATATATATATT TATATATAAGTATATATATAAATATATATATTTATATATAAGTATATATA TAAATATATATATTTATATATAAGTATATATATAAATATATATATTTATA TATAAGTATATATATATTTATATATAAGTATATATAAATATATATATTTA TATATAAGTGTATATATATAAATATATATATTTATATAGAAGTATATATA AATATATATATTTATATATAAGTATATATAAATATATATATTTAAATATA AGTATATATAAATATATATATTTAAATATAAGTATATATATAAATATATA TTTAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATATA TAAATATAAGTATATATATAAATATATATTTAAATATAAGTATATATATA A	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0076	1	326	0.0031	600	c.358 others(617): Show c.358+3444_358+3445insTATATAAGTATATATATAAATATATATA TTTATATATAAGTATATATATATATATTTATATATAAGTATATATAAATA TATATATTTATATATAAGTATATATATATATTTATATATAAGTATATATA TATTTATATATAAGTATATATATATATTCATATATAAGTATATATATAAA TATATATATTTATATATAAGTATATATATAAATATATATATTTATATATA AGTATATATATAAATATATATATTTATATATAAGTATATATATAAATATA TATATTTATATATAAGTATATATATATTTATATATAAGTATATATAAATA TATATATTTATATATAAGTGTATATATATAAATATATATATTTATATAGA AGTATATATAAATATATATATTTATATATAAGTATATATAAATATATATA TTTAAATATAAGTATATATAAATATATATATTTAAATATAAGTATATATA TAAATATATATTTAAATATAAGTATATATATAAATATATATTTAAATATA AGTATATATATAAATATAAGTATATATATAAATATATATTTAAATATAAG TATATATATAAATATATATTTA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYRIP_chr3_39804609_40265321	40084296	T T	TATAATAC others(593): Show TATAATACACATCTATGTATTATATATCGATATATAATACACATCTATGT ATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATA ATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTA TATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATAC ACATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATATA TCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACACAT CTATGTATTATATATCGATAGATAATACACATCTATGTATTATATATCGA TAGATAATACACATCTATGTATTATCTATCGATAGATAATACACATCTAT GTATTATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAGA TAATACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTAT TATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAAT ACACATCTATGTATTATATATCGATAATACACATCTATGTATTATATATC G	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	170	0.0059	600	c.332 others(619): Show c.332+40056_332+40057insTATAATACACATCTATGTATTATATA TCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACACAT CTATGTATTATATATCGATAGATAATACACATCTATGTATTATATATCGA TAGATAATACACATCTATGTATTATATATCGATAGATAATACACATCTAT GTATTATATATCGATAGATAATACACATCTATGTATTATATATCGATAGA TAATACACATCTATGTATTATATATCGATAGATAATACACATCTATGTAT TATATATCGATAGATAATACACATCTATGTATTATATATCGATAGATAAT ACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATC TATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATACAC ATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCTATC GATAGATAATACACATCTATGTATTATCTATCGATAGATAATACACATCT ATGTATTATATATCGATAATACACATCTATGTATTATATATCGATAATAC ACATCTATGTATTATATATCGATA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
NFATC1_chr18_79390930_79534323	79532291	C C	CTGCAGCC others(593): Show CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTC TTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTC TTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTC T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0121 a0002c0002t0001g0121	1	322	0.0031	600	c.47 others(611): Show c.4714_*4715insTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2969		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532291	C C	CTGCAGCC others(593): Show CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCTCGGCAGACCCTC CTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGC CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGC CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCTCGGCAGACCCTC CTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0027 a0002c0012t0027	a0002c0012t0027g0038 a0002c0012t0027g0040 a0002c0012t0027g0038 a0002c0012t0027g0040	2	322	0.0062	600	c.47 others(611): Show c.4714_*4715insTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCC CCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCC CCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2969		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532308	C C	CCGGCAGA others(593): Show CCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CGCCTGCAGTCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGACC CTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCC CCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCTCGGCAGACC CTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01175.hp1 HG00733.hp1 HG01175.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0292 a0002c0012t0002g0295 a0002c0012t0002g0292 a0002c0012t0002g0295	2	322	0.0062	600	c.47 others(611): Show c.4731_*4732insCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCTCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCT GCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCC GCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCTCGGCAGACCCTCCT GTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCT GCAGCCCCCCGCCCCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2986		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532331	C C	CTGCAGCC others(593): Show CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGC CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCG GCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTC TTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTC T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0004 a0004	a0004c0020 a0004c0020	a0004c0020t0012 a0004c0020t0012	a0004c0020t0012g0037 a0004c0020t0012g0037	1	322	0.0031	600	c.47 others(611): Show c.4754_*4755insTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCA GCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGA CCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		3009		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532331	C C	CTGCAGCC others(593): Show CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTC TTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGC CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCTC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0106 a0001c0001t0006g0106	1	322	0.0031	600	c.47 others(611): Show c.4754_*4755insTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGA CCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGA CCCTCCTGTCTCCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		3009		chr18	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(593): Show CCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAG TCCGTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCC TCCCCACAGAGCCCCCAAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCC CAGAGCCCCTCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGA GCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCGTCCCCACAGAGCCC CCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGAGCCCCCCAG TCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCT CCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCCCA CAGAGCCCGAGTCCGTCCCCACAGAGCCCCCACTCCCTCCCCACAGAGCC CCCAAGTCCGTCCCCACAGGCCCCCAGTCCCTCCCCACAGAGCCCCCCAG TCCCCCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCT CCCCACAGAGCCCCCGAGTCTGTCCCCACAGGCCCCACTGGACACCAGGC T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0015 a0001c0026t0015	a0001c0026t0015g0014 a0001c0026t0015g0014	1	324	0.0031	600	c.140 others(617): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGCTCTGTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGACTGG GGGCCTGTGGGGACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCTC TGTGGGGACGGACTCGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGG GAGGGACTGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGGGGAGGGACTGGGG GGCTCTGTGGGGAGGGACTGGGGGGGCTCTGTGGGGACGGACTCGGGGGC TCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTG TGGGGAGGGACTGAGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGGGA GGGACTTGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGA CTGGGGGGCTCTGTGGGGACGGACTCGGGGGCTCTGTGGGGAGGGACTGG GGGCTCTGTGGGGAGGGACTGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(593): Show CCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAG TCCGTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCC TCCCCACAGAGCCCCCAAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCC CAGAGCCCCTCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGA GCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCGTCCCCACAGAGCCC CCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGAGCCCCCCAG TCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCC TCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCCC ACAGAGCCCGAGTCCGTCCCCACAGAGCCCCCACTCCCTCCCCACAGAGC CCCCAAGTCCGTCCCCACAGGCCCCCAGTCCCTCCCCACAGAGCCCCCCA GTCCCCCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCGAGTCCCT CCCCACAGAGCCCCCGAGTCTGTCCCCACAGGCCCCACTGGACACCAGGC T	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0013 a0001c0003t0008g0013	1	324	0.0031	600	c.140 others(617): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGCTCTGTGGGGAGGGA CTGGGGGCTCTGTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGACTGGG GGCCTGTGGGGACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCTCT GTGGGGACGGACTCGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGG AGGGACTGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGGA CTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGGGGAGGGACTGGGG GGCTCTGTGGGGAGGGACTGGGGGGGCTCTGTGGGGACGGACTCGGGGGC TCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTG TGGGGAGGGACTGAGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGGGA GGGACTTGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGA CTGGGGGGCTCTGTGGGGACGGACTCGGGGGCTCTGTGGGGAGGGACTGG GGGCTCTGTGGGGAGGGACTGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NPBWR2_chr20_64098802_64112565	64105504	T T	TGGGTGGG others(593): Show TGGGTGGGGGTGGGCGTGATGATGGGGGTGATGGTGGGGGTGGTGGTGGG GGTGGGGGTGATGGTGGGGGTGGGGGTGGGGGTGATGGGGGTGGGCGTGA TGGTGGATGTGATGGGGGTGGGCATGATGATGGGCGTGATGATGGGGGTG GTGGTGGGGGTGATGGTGGGGGTGGTGGTGGGCGTGATGATGGGGGTGAT GGTGGGGGTGGTGGTGGGGGTGGGGGTGATGGTGGGGGTGGGGGTGGGGG TGATGGGGGTGGGCGTGATGGTGGATGTGATGGGGGTGGGCATGATGATG GGCGTGATGATGGGGGTGGTGGTGGGGGTGATGGTGGGGGTGGTGGTGGG CGTGATGATGGGGGTGATGGTGGGGGTGGTGGTGGGGGTGGGGGTGATGG TGGGGGTGGGGGTGGGGGTGATGGGGGTGGGCGTGATGGTGGATGTGATG GGGGTGGGCATGATGATGGGCGTGATGATGGGGGTGGTGGGGGTGGGCGT GATGGTGGATGTGATGGGGGTGGGCATGATGATGGGCATGATGATGGGCG TGATGATGGGGGTGATGGTGGGGGTGGTGGTGGGGGTGGGGGTGATGGTG G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0033 a0001c0002t0033	a0001c0002t0033g0030 a0001c0002t0033g0030	2	355	0.0056	600	c.32 others(609): Show c.325_*326insCCACCATCACCCCCACCCCCACCACCACCCCCACCA TCACCCCCATCATCACGCCCATCATCATGCCCATCATCATGCCCACCCCC ATCACATCCACCATCACGCCCACCCCCACCACCCCCATCATCACGCCCAT CATCATGCCCACCCCCATCACATCCACCATCACGCCCACCCCCATCACCC CCACCCCCACCCCCACCATCACCCCCACCCCCACCACCACCCCCACCATC ACCCCCATCATCACGCCCACCACCACCCCCACCATCACCCCCACCACCAC CCCCATCATCACGCCCATCATCATGCCCACCCCCATCACATCCACCATCA CGCCCACCCCCATCACCCCCACCCCCACCCCCACCATCACCCCCACCCCC ACCACCACCCCCACCATCACCCCCATCATCACGCCCACCACCACCCCCAC CATCACCCCCACCACCACCCCCATCATCACGCCCATCATCATGCCCACCC CCATCACATCCACCATCACGCCCACCCCCATCACCCCCACCCCCACCCCC ACCATCACCCCCACCCCCACCACCACCCCCACCATCACCCCCATCATCAC GCCCACCCCCACCC	NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2	325		chr20	TogoVar
NR2F6_chr19_17226883_17250919	17249415	G G	GCTCCTGG others(593): Show GCTCCTGGCCTCAGGTGATCCTCCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTTAAGCCACTGCACCCGGCCTGCTTTTTATTGTTGTTGTT GTCGTCGTTGTTTTTTGAGACGGAGTCTCGCTCTGTCACCAGGCTGGAGT GCAGTGGCACAACCTCGGCTCACTGCAACCTCCGACTCCCTGGTTCAAGC GATTCTCCTGCCCCAGCCTCCCGAGTAGCTGGGATTACAGGCACGCACCA CCACGCCCAGCTAATTTTTGTATTTTTAGTACAGATGGGGTTTCACCATG TTGGCCTCTATCTTCTGACCTCGTGATCTGCCCACCTTGGCCTCCCAAAA TGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCTGTTTTGTTTCTT TGAGACAAGGTATGTCACCCAAACTGGAGTGCCGTGGCTTGATCTCAGCT CACTGCAACGTCTGCCTCCCAGGTTCAAGCAATTATCCTGCCTCAGCCTC CTGAGTAGCTGGGACTACAGGCACACACCACCACACCCAGCTAATTTTTG TATTTTTAGTAGAGACGGGGGTTTTGCCATGTTGGCCAAGCTGGTCTCAA A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	414	0.0024	600	c.-41 others(611): Show c.-4196_-4195insTTTGAGACCAGCTTGGCCAACATGGCAAAACCCC CGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTG TAGTCCCAGCTACTCAGGAGGCTGAGGCAGGATAATTGCTTGAACCTGGG AGGCAGACGTTGCAGTGAGCTGAGATCAAGCCACGGCACTCCAGTTTGGG TGACATACCTTGTCTCAAAGAAACAAAACAGGGCCGGGCACGGTGGCTCA CACCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGT CAGAAGATAGAGGCCAACATGGTGAAACCCCATCTGTACTAAAAATACAA AAATTAGCTGGGCGTGGTGGTGCGTGCCTGTAATCCCAGCTACTCGGGAG GCTGGGGCAGGAGAATCGCTTGAACCAGGGAGTCGGAGGTTGCAGTGAGC CGAGGTTGTGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCGTCT CAAAAAACAACGACGACAACAACAACAATAAAAAGCAGGCCGGGTGCAGT GGCTTAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGGAGGAT CACCTGAGGCCAGGAG	NR2F6	ENSG00000160113.6	transcript	ENST00000291442.4	protein_coding		3497		chr19	TogoVar
NR2F6_chr19_17226883_17250919	17249415	G G	GCTCCTGG others(593): Show GCTCCTGGCCTCAGGTGATCCTCCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTTAAGCCACTGCACCCGGCCTGTTTTTTATTGTTGTTGTT GTCGTCGTTGTTTTTTGAGACGGAGTCTCGCTCTGTCACCAGGCTGGAGT GCAGTGGCACAACCTCGGCTCACTGCAACCTCCGACTCCCTGGTTCAAGC GATTCTCCTGCCCCAGCCTCCCGAGTAGCTGGGATTACAGGCACGCACCA CCACGCCCAGCTAATTTTTGTATTTTTAGTACAGATGGGGTTTCACCATG TTGGCCTCTATCTTCTGACCTCGTGATCTGCCCACCTTGGCCTCCCAAAA TGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCTGTTTTGTTTCTT TGAGACAAGGTATGTCACCCAAACTGGAGTGCCGTGGCTTGATCTCAGCT CACTGCAACGTCTGCCTCCCAGGTTCAAGCAATTATCCTGCCTCAGCCTC CTGAGTAGCTGGGACTACAGGCACACACCACCACACCCAGCTAATTTTTG TATTTTTAGTAGAGACGGGGGTTTTGCCATGTTGGCCAAGCTGGTCTCAA A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02451.hp1 HG02572.hp2 others(4): Show HG01109.hp1 HG02451.hp1 HG02572.hp2 HG02647.hp1 HG02886.hp2 HG03486.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0012 a0001c0001t0001g0176 a0001c0001t0001g0214 others(4): Show a0001c0001t0001g0012 a0001c0001t0001g0176 a0001c0001t0001g0214 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0177 a0001c0003t0001g0166	7	414	0.0169	600	c.-41 others(611): Show c.-4196_-4195insTTTGAGACCAGCTTGGCCAACATGGCAAAACCCC CGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGTGTGCCTG TAGTCCCAGCTACTCAGGAGGCTGAGGCAGGATAATTGCTTGAACCTGGG AGGCAGACGTTGCAGTGAGCTGAGATCAAGCCACGGCACTCCAGTTTGGG TGACATACCTTGTCTCAAAGAAACAAAACAGGGCCGGGCACGGTGGCTCA CACCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGCAGATCACGAGGT CAGAAGATAGAGGCCAACATGGTGAAACCCCATCTGTACTAAAAATACAA AAATTAGCTGGGCGTGGTGGTGCGTGCCTGTAATCCCAGCTACTCGGGAG GCTGGGGCAGGAGAATCGCTTGAACCAGGGAGTCGGAGGTTGCAGTGAGC CGAGGTTGTGCCACTGCACTCCAGCCTGGTGACAGAGCGAGACTCCGTCT CAAAAAACAACGACGACAACAACAACAATAAAAAACAGGCCGGGTGCAGT GGCTTAACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGGAGGAT CACCTGAGGCCAGGAG	NR2F6	ENSG00000160113.6	transcript	ENST00000291442.4	protein_coding		3497		chr19	TogoVar
NR3C2_chr4_148073764_148447414	148366441	T T	TAAAAGTA others(593): Show TAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT AAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT AAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT AAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAG AATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTTAAAAAGTACT TTTAAAAAAGAATACTTTTTAAAAAGTACTTTTAAAAAAGAATACTTTTT A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG03225.hp1 HG03471.hp1 others(2): Show HG01257.hp2 HG03225.hp1 HG03471.hp1 HG03516.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0001 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0052 a0001c0001t0004g0156 a0001c0001t0005g0053 others(2): Show a0001c0001t0001g0052 a0001c0001t0004g0156 a0001c0001t0005g0053 a0001c0001t0005g0091 a0001c0001t0005g0108	5	170	0.0294	600	c.175 others(621): Show c.1757+68662_1757+68663insTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAA AAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAA AAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAA AAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGT ACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAAAAGTATTCTT TTTTAAAAGTACTTTTTAAAAAGTATTCTTTTTTAAAAGTACTTTTTAAA AAGTATTCTTTTTTAAAAGTACTTTT	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8			chr4	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(593): Show AGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGAAGGAGGACGG AGAAGGGGGAGGGAGGAGGATGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGGAAGGGAGGGGATGGGGGAGGGAGAAAGGAGGGGATGGGGGAGGGGGA GGGGAGGGGGATGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGG GGGAGGGAGAGGGGAGGGGGAGGGGATGGGGGAGGGAGAAGGGAGGGGGA GGGGGAGGAGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAAAGGGGGAAGG GAGAAGGGGGAGGGGAAGGGAGGGGAAGGGGAGGAAGAGGGGAGGGGAGG AGGAAGGGGAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGG AAGGGGAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAG GGGAGGGGAGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGG G	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0068 a0001c0003t0068	a0001c0003t0068g0239 a0001c0003t0068g0239	1	344	0.0029	600	c.154 others(617): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCC CCTCCCTTCCCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCC TCCCCCTCCCCCTCTCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCCATCC CCTCCCCCTCCCCTCTCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCC TCCCCTCCCCCATCCCCCTCCCCTCCCCCTCCCCCATCCCCTCCTTTCTC CCTCCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCATCCTCCTCCCTCCCCCTTCTCCGTCCTCCTTCCTCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCT CCTCCCCCCTCCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRXN3_chr14_78165373_79873291	79257520	G G	GTGGTGGT others(593): Show GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGGTGGTAATGGTGATGGTGATGGTGATGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGATGGTAATGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGTAATGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTAATGGTGGTGGTGATGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAATGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAATGGTGGTGGTG A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0006 a0001c0001t0010g0006	1	24	0.0417	600	c.326 others(623): Show c.3263-209669_3263-209668insATGGTGGTGGTGATGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGGTGGTAATGGTGATGGTGATGGTGATGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGAT GGTAATGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTAATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTAATGGTGGTGGTGATGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAATGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTAATGGTGGTGGTGATGGT GGTGGTGGTGATGGTGGTGGTGGTGGTG	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
OPRL1_chr20_64075082_64105633	64088689	T T	TGAAGAGT others(593): Show TGAAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGG CCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTG TGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGAAGAGTGG CCAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGGATCTG TGCAGAGTGGCCAGGATCTGTGCAGGGAGGGTAGGATCTGTGCAGAGTGG CCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGATCTG TGCAGAGCGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAAG GCAGGATCCGTGCAGAGTGGCCAGGATCCGTGCAGAGTGGCCAGGATCCG TGCAGAGTGGCCAGGATCCGTGCAGGGAGGCCATGATCTGTGCAGGGAGG GCAGGGTCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTG TGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGG GCAGGATCTGTGCAGAGTGGCCAGGGTCTGTGCAGAGTGGCCAGGGTCTT G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03098.hp2 HG02622.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0015 a0001c0001t0014 a0001c0001t0015	a0001c0001t0014g0033 a0001c0001t0015g0032 a0001c0001t0014g0033 a0001c0001t0015g0032	2	66	0.0303	600	c.-18 others(619): Show c.-184-3276_-184-3275insAAGAGTGGCCAGGATCTGTGCAGAGT GGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATC TGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGT GGCCAGGATCTGTGAAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGATC TGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGA GGGTAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATC TGTGCAGGGAGGGCAGGATCTGTGCAGAGCGGCCAGGATCTGTGCAGAGT GGCCAGGATCTGTGCAGGGAAGGCAGGATCCGTGCAGAGTGGCCAGGATC CGTGCAGAGTGGCCAGGATCCGTGCAGAGTGGCCAGGATCCGTGCAGGGA GGCCATGATCTGTGCAGGGAGGGCAGGGTCTGTGCAGAGTGGCCAGGATC TGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGT GGCCAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGGGTC TGTGCAGAGTGGCCAGGGTCTTGG	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
OPRL1_chr20_64075082_64105633	64105504	T T	TGGGTGGG others(593): Show TGGGTGGGGGTGGGCGTGATGATGGGGGTGATGGTGGGGGTGGTGGTGGG GGTGGGGGTGATGGTGGGGGTGGGGGTGGGGGTGATGGGGGTGGGCGTGA TGGTGGATGTGATGGGGGTGGGCATGATGATGGGCGTGATGATGGGGGTG GTGGTGGGGGTGATGGTGGGGGTGGTGGTGGGCGTGATGATGGGGGTGAT GGTGGGGGTGGTGGTGGGGGTGGGGGTGATGGTGGGGGTGGGGGTGGGGG TGATGGGGGTGGGCGTGATGGTGGATGTGATGGGGGTGGGCATGATGATG GGCGTGATGATGGGGGTGGTGGTGGGGGTGATGGTGGGGGTGGTGGTGGG CGTGATGATGGGGGTGATGGTGGGGGTGGTGGTGGGGGTGGGGGTGATGG TGGGGGTGGGGGTGGGGGTGATGGGGGTGGGCGTGATGGTGGATGTGATG GGGGTGGGCATGATGATGGGCGTGATGATGGGGGTGGTGGGGGTGGGCGT GATGGTGGATGTGATGGGGGTGGGCATGATGATGGGCATGATGATGGGCG TGATGATGGGGGTGATGGTGGGGGTGGTGGTGGGGGTGGGGGTGATGGTG G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	66	0.0152	600	c.67 others(611): Show c.6705_*6706insGGGTGGGGGTGGGCGTGATGATGGGGGTGATGGT GGGGGTGGTGGTGGGGGTGGGGGTGATGGTGGGGGTGGGGGTGGGGGTGA TGGGGGTGGGCGTGATGGTGGATGTGATGGGGGTGGGCATGATGATGGGC GTGATGATGGGGGTGGTGGTGGGGGTGATGGTGGGGGTGGTGGTGGGCGT GATGATGGGGGTGATGGTGGGGGTGGTGGTGGGGGTGGGGGTGATGGTGG GGGTGGGGGTGGGGGTGATGGGGGTGGGCGTGATGGTGGATGTGATGGGG GTGGGCATGATGATGGGCGTGATGATGGGGGTGGTGGTGGGGGTGATGGT GGGGGTGGTGGTGGGCGTGATGATGGGGGTGATGGTGGGGGTGGTGGTGG GGGTGGGGGTGATGGTGGGGGTGGGGGTGGGGGTGATGGGGGTGGGCGTG ATGGTGGATGTGATGGGGGTGGGCATGATGATGGGCGTGATGATGGGGGT GGTGGGGGTGGGCGTGATGGTGGATGTGATGGGGGTGGGCATGATGATGG GCATGATGATGGGCGTGATGATGGGGGTGATGGTGGGGGTGGTGGTGGGG GTGGGGGTGATGGTGG	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding		4872		chr20	TogoVar
OR1F1_chr16_3183204_3211556	3197877	G G	GGGAGAAG others(593): Show GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAAGGAGAGGGAGAAG GAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAAGGA GAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGG GAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGA GAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGA AGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGG GAGAAGGAGAGGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0182 a0001c0007t0002g0182	1	328	0.0031	600	c.-12 others(617): Show c.-12-6353_-12-6352insAGGAGAGGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGA GGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAG GAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAGGGAGAAGGAGA GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAAGGAGA	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
OR6J1_chr14_22625929_22649352	22637550	C C	CCTGCCCG others(593): Show CCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCTGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCGGCCGCCCAGTCC GGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGATGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0266 a0002c0002t0013g0266	1	362	0.0028	600	c.-27 others(617): Show c.-27-2713_-27-2712insAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGG GGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGATCCCCCCACATCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGG CTGACCCCCCCCACCTCCCTCCCGGACTGGGCGGCCGGCCAGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
PARP10_chr8_143972158_143991460	143981389	A A	ATGGTGAT others(593): Show ATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGA TGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGAC GACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGT GGTGAAGGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTG GTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGA TGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGAC GACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGT GGTGAAGGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTG GTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGA TGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGAC GACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGT GGTGAAGGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTG G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0189 a0004c0004t0001g0189	1	380	0.0026	600	c.255 others(619): Show c.2556+1542_2556+1543insCCACCTTCACCACTCACTGTCGTCAC CACCATCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCATC ACCACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCACCACCT TCACCACTCACTGTCGTCACCACCATCATCACCATCACCTTCACCACTCA CTGTCGTCACCACCATCATCACCACCACCTTCACCACTCACTGTCGTCAC CACCATCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCATC ACCACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCATCACCT TCACCACTCACTGTCGTCACCACCATCATCACCACCACCTTCACCACTCA CTGTCGTCACCACCATCATCACCACCACCTTCACCACTCACTGTCGTCAC CACCATCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCATC ACCACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCATCACCT TCACCACTCACTGTCGTCACCACCATCATCACCACCACCTTCACCACTCA CTGTCGTCACCACCATCATCACCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(593): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCTATAGATAGACATATAGATGTATCTATCGATAGACAG ATAGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	436	0.0023	600	c.-26 others(611): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTA TCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATC GATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACA TCTATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTG TCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTC TATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTA TCGATAGATACATCTATCTGTCTATCGATAGATACATCTATATGTCTATC TATAGATAGATACATCTATATGTCTATCTATAGATAGATACATCTATATG TCTATCTATAGATAGATACATCTATATGTCTATCTATAGATAGATACATC TATATGTCTATCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PGAP6_chr16_365788_386978	370393	A A	ACCCCGGC others(593): Show ACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCG CTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACC CGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCA CCCCCTATCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCT CACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCT CTCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGC TCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCG GCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCC CGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCTCCTACCCCGGC CCCGGCTCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCC GGCCCCCGGCTCTCACCCGCTACCCCCGGCCCCCGGGCTCTCACTCCCTA C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0001 a0012c0017t0001	a0012c0017t0001g0137 a0012c0017t0001g0137	1	376	0.0027	600	c.15 others(611): Show c.1593_*1594insGTAGGGAGTGAGAGCCCGGGGGCCGGGGGTAGCG GGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAG CGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGT AGGGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGG GTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGC CGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGG CCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGG GGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCG GGGGCCGGGATAGGGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGC CGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGA GCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		394		chr16	TogoVar
PHF2_chr9_93571584_93684587	93618890	T T	TGTGTTTC others(593): Show TGTGTTTCCATGTGTGTGTTTGCATATGTGGTATGTGTGATGTGTGTGTG CATGTGTCTGTTTTGTGTTTGCATGTGTGTTTTGTGTGTGTGCCTGGATG TGTGGTATGTGTGTGTGCCTGGAGGTGTGGTGTGTGTATGTGTACCTGTG TGTCTGTGTGTGTAATGTGTGTGGCTGCGTGTGTGGTGTTTGTGTGTCTG CGTGTGTGTGGTGTGTGTTGTGTGTTTGCCCGTGTGGTGGGTGTGTCTGT GTCTGCATGTGTGTGGTGTGTGTGTCTGTATGTATGTTGTATATTTCTGT GTGCATGTGTGGTGTGTTTCTGTCTGTGTGTGATGTGTGTGTGTCTGTGG GGTGTATGTGTCTGCGTGTGTATTTGTGTCTGCATATGTGTGGTGTGTTT GCGTGTTTGGGTATGTATGTGTGTCTGTGTGATGTGTATGTGTGTCTGCA TGTGTGGTGTGTGTGCATGTTTGTGTCTGTGTGTAGTGTGTGTATGTATC TCTGAATGTGTGTTGTGTCTGTGTGTGTATTGTGTGTTTGTGTGTGGCAT GTGTCCGCATGTGTGTTGTGTGTGTGTGTGTGGTGTGTCTGCATGTGTGT G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG01952.hp2 others(18): Show HG01884.hp1 HG01891.hp2 HG01952.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02280.hp2 HG02486.hp2 HG02615.hp1 HG02717.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02965.hp1 HG02976.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp2 NA18906.hp2 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0007 others(4): Show a0001c0001 a0001c0003 a0001c0007 a0001c0019 a0001c0021 a0001c0022 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0003t0007 a0001c0003t0008 a0001c0007t0012 a0001c0019t0002 a0001c0021t0002 a0001c0022t0002 a0004c0010t0009	a0001c0001t0001g0284 a0001c0001t0001g0323 a0001c0001t0002g0319 others(18): Show a0001c0001t0001g0284 a0001c0001t0001g0323 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0325 a0001c0001t0002g0327 a0001c0001t0002g0329 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0013g0324 a0001c0003t0007g0286 a0001c0003t0007g0287 a0001c0003t0007g0326 a0001c0003t0007g0330 a0001c0003t0008g0288 a0001c0007t0012g0321 a0001c0007t0012g0331 a0001c0019t0002g0328 a0001c0021t0002g0335 a0001c0022t0002g0322 a0004c0010t0009g0285	21	350	0.0600	600	c.99- others(617): Show c.99-11076_99-11075insTTCCATGTGTGTGTTTGCATATGTGGTA TGTGTGATGTGTGTGTGCATGTGTCTGTTTTGTGTTTGCATGTGTGTTTT GTGTGTGTGCCTGGATGTGTGGTATGTGTGTGTGCCTGGAGGTGTGGTGT GTGTATGTGTACCTGTGTGTCTGTGTGTGTAATGTGTGTGGCTGCGTGTG TGGTGTTTGTGTGTCTGCGTGTGTGTGGTGTGTGTTGTGTGTTTGCCCGT GTGGTGGGTGTGTCTGTGTCTGCATGTGTGTGGTGTGTGTGTCTGTATGT ATGTTGTATATTTCTGTGTGCATGTGTGGTGTGTTTCTGTCTGTGTGTGA TGTGTGTGTGTCTGTGGGGTGTATGTGTCTGCGTGTGTATTTGTGTCTGC ATATGTGTGGTGTGTTTGCGTGTTTGGGTATGTATGTGTGTCTGTGTGAT GTGTATGTGTGTCTGCATGTGTGGTGTGTGTGCATGTTTGTGTCTGTGTG TAGTGTGTGTATGTATCTCTGAATGTGTGTTGTGTCTGTGTGTGTATTGT GTGTTTGTGTGTGGCATGTGTCCGCATGTGTGTTGTGTGTGTGTGTGTGG TGTGTCTGCATGTGTGTGGTGT	PHF2	ENSG00000197724.12	transcript	ENST00000359246.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
POR_chr7_75910155_75991855	75988980	G G	GGGGTGGA others(593): Show GGGGTGGAGGGGAAGAAGGCCGGGTAGGGGGGTGGAGGAGAAGGCCGGGT GGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGGGT GGGGGGGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGGA GGGGGTGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCCGGGT GGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGGG TGGGGGGGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGG AGGGGGTGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCCGGG TGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCGGGG AGGGGGTGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGG AGGGGGTGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGGG TGGGGGGGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGG AGGGGGTGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCCGGG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0002 a0002c0016t0002	a0002c0016t0002g0155 a0002c0016t0002g0155	1	278	0.0036	600	c.24 others(611): Show c.2499_*2500insGGGTGGAGGGGAAGAAGGCCGGGTAGGGGGGTGG AGGAGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGG AGGGGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCGGGGAGGGGGTGTGG AGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGGAGGGGGTGTGG AGGGGAAGGCCGGGTGGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTG GAGGGGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCGGGGAGGGGGTGTG GAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGGAGGGGGTGTG GAGGGGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTG GAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGGAGGGGGTGTG GAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCCGGGTGGGGGGGTG GAGGGGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCGGGGAGGGGGTGTG GAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGGAGGGGGTGTG GAGGGGAAGGCCGGGT	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		2126		chr7	TogoVar
PPP6R2_chr22_50338327_50450090	50344838	T T	TCCCCCCA others(593): Show TCCCCCCAGTCAGTGCCCCCTCTAGTCAGTTCCCCCCAGTCAGTGCCCCC TCTAGTCAGTTCCCCCCCAGTCAGTGCCCCCTCTAGTCAGTTTCCCCCCA GTCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGCCTCCTCCAGTCA GTTTCCCCCAGTCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGCCC CCTCCAGTCAGTTCCCCCCAGTCAGTGCCCCCCCAGTCAGTTTCCCCCCA GTCAGTGCCCCCCCAGTCAGTTTCCCCCCAGTCAGTGCCCCCCAGTCAGT GCCCCCTCCAGTCAATTCCCCCCAGTCAGTGCCTCCTCCAGTCAATTCCC CCCAGTCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGCCCCCTCCA GTCAGTTCCCCCAGTCAGTGCCCCCCCAGTCAGTTTCCCCCCAGTCAGTG CCCCCAGTCAGTGCCCCCTCCAGTTAATTCCCCCTAGTCAGTGCCCCCTC CAGTCAGTTCCCCCCCAGTCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTC AGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGCCCCCTCCAGTCAGTT C	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	1	340	0.0029	600	c.-14 others(619): Show c.-148+1294_-148+1295insAGTCAGTGCCCCCTCTAGTCAGTTCC CCCCAGTCAGTGCCCCCTCTAGTCAGTTCCCCCCCAGTCAGTGCCCCCTC TAGTCAGTTTCCCCCCAGTCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTC AGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGTGCCTCCTCCAGTCAGTT TCCCCCAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCAGTCAGTGCCCCCC CAGTCAGTTTCCCCCCAGTCAGTGCCCCCCCAGTCAGTTTCCCCCCAGTC AGTGCCCCCCAGTCAGTGCCCCCTCCAGTCAATTCCCCCCAGTCAGTGCC TCCTCCAGTCAATTCCCCCCAGTCAGTGCCTCCTCCAGTCAGTTTCCCCC AGTCAGTGCCCCCTCCAGTCAGTTCCCCCAGTCAGTGCCCCCCCAGTCAG TTTCCCCCCAGTCAGTGCCCCCAGTCAGTGCCCCCTCCAGTTAATTCCCC CTAGTCAGTGCCCCCTCCAGTCAGTTCCCCCCCAGTCAGTGCCTCCTCCA GTCAGTTTCCCCCAGTCAGTGCCTCCTCCAGTCAGTTTCCCCCAGTCAGT GCCCCCTCCAGTCAGTTCCCCCCC	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRDM16_chr1_3064203_3443621	3351524	G G	GTCTCTCC others(593): Show GTCTCTCCCCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCACCTCCCC CCTCCCTCTCTCCCCCTCCTTCTCTCTTCCCCTCCTTCTCTCCCCTCCCT CTCTCCCCTCCCTCTTTCCCCCCTCCCCCTCCTTCTCTCTCCCCTTCCCT CTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTC TCTCCCTCCCTCTCCTTCCCCTCCCTCCCACTCTCCCCCTCCCTCTCTCC CCCTTTCCCTCCCTCTCTCCCCTTCTCTCTCTTCTGCTCCTTCTCTCTCC CCCTTCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTT CCTCTTTCTCTCCCTCTCTCTTCCCCTCCCTCCCTCTCTCCCCCTCCCTC TGTCCCGTCCCTCTCTCCCCCTCCCTCTGTCCCATCCCTCTCTCCCCCTC CCTCTCTCCCCTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCTCCCTCTCT CCCCCTCCCTCTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTCTCCCCTCC C	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0100 a0001c0001t0070g0100	1	210	0.0048	600	c.439 others(619): Show c.439-33623_439-33622insCCCCTCCTCTCTCCCCTCCCTCTCTC CCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCC TCTCTCCCCCACCTCCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTTCCCC TCCTTCTCTCCCCTCCCTCTCTCCCCTCCCTCTTTCCCCCCTCCCCCTCC TTCTCTCTCCCCTTCCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTC TCATCCCCTTCCTCTTTCTCTCCCTCCCTCTCCTTCCCCTCCCTCCCACT CTCCCCCTCCCTCTCTCCCCCTTTCCCTCCCTCTCTCCCCTTCTCTCTCT TCTGCTCCTTCTCTCTCCCCCTTCCTCTCTCCCCTCCCTCTCTGTCCCCC TCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCTCTCTTCCCCTCCCTC CCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTGTCC CATCCCTCTCTCCCCCTCCCTCTCTCCCCTCCCTCTCCTCCCTCTTCCCT CTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTCC CCTCCCTCTCTCCCCTCCCTCTCT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3351524	G G	GTCTCTCC others(593): Show GTCTCTCCCCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCACCTCCCC CCTCCCTCTCTCCCCCTCCTTCTCTCTTCCCCTCCTTCTCTCCCCTCCCT CTCTCCCCTCCCTCTTTCCCCCCTCCCCCTCCTTCTCTCTCCCCTTCCCT CTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTC TCTCCCTCCCTCTCCTTCCCCTCCCTCCCACTCTCCCCCTCCCTCTCTCC CCCTTTCCCTCCCTCTCTCCCCTTCTCTCTCTTCTGCTCCTTCTCTCTCC CCCTTCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTT CCTCTTTCTCTCCCTCTCTCTTCCCCTCCCTCCCTCTCTCCCCCTCCCTC TGTCCCGTCCCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTC CCTCTCTCCCCTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCTCCCTCTCT CCCCCTCCCTCTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTCTCCCCTCC C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02622.hp1 HG01109.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0001 a0001c0017t0054 a0001c0001t0001 a0001c0017t0054	a0001c0001t0001g0125 a0001c0017t0054g0134 a0001c0001t0001g0125 a0001c0017t0054g0134	2	210	0.0095	600	c.439 others(619): Show c.439-33623_439-33622insCCCCTCCTCTCTCCCCTCCCTCTCTC CCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCC TCTCTCCCCCACCTCCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTTCCCC TCCTTCTCTCCCCTCCCTCTCTCCCCTCCCTCTTTCCCCCCTCCCCCTCC TTCTCTCTCCCCTTCCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTC TCATCCCCTTCCTCTTTCTCTCCCTCCCTCTCCTTCCCCTCCCTCCCACT CTCCCCCTCCCTCTCTCCCCCTTTCCCTCCCTCTCTCCCCTTCTCTCTCT TCTGCTCCTTCTCTCTCCCCCTTCCTCTCTCCCCTCCCTCTCTGTCCCCC TCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCTCTCTTCCCCTCCCTC CCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTGTCC CGTCCCTCTCTCCCCCTCCCTCTCTCCCCTCCCTCTCCTCCCTCTTCCCT CTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTCC CCTCCCTCTCTCCCCTCCCTCTCT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3351524	G G	GTCTCTCC others(593): Show GTCTCTCCCCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCACCTCCCC CCTCCCTCTCTCCCCCTCCTTCTCTCTTCCCCTCCTTCTCTCCCCTCCCT CTCTCCCCTCCCTCTTTCCCCCCTCCCCCTCCTTCTCTCTCCCCTTCCCT CTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTC TCTCCCTCCCTCTCCTTCCCCTCCCTCCCACTCTCCCCCTCCCTCTCTCC CCCTTTCCCTCCCTCTCTCCCCTTCTCTCTCTTCTGCTCCTTCTCTCTCC CCCTTCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTT CCTCTTTCTCTCCCTCTCTCTTCCCCTCCCTCCCTCTCTCCCCCTCCCTC TGTCCCGTCCCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTC CCTCTCTCCCCTCCCTCTCGTCCCTCTTCCCTCTCTCCCCCTCCCTCTCT CCCCCTCCCTCTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTCTCCCCTCC C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02735.hp2 NA19079.hp2 others(1): Show HG00558.hp2 HG02735.hp2 NA19079.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0020 a0001c0001 a0001c0002 a0001c0020	a0001c0001t0003 a0001c0002t0002 a0001c0002t0005 others(1): Show a0001c0001t0003 a0001c0002t0002 a0001c0002t0005 a0001c0020t0005	a0001c0001t0003g0168 a0001c0002t0002g0146 a0001c0002t0005g0186 others(1): Show a0001c0001t0003g0168 a0001c0002t0002g0146 a0001c0002t0005g0186 a0001c0020t0005g0196	4	210	0.0191	600	c.439 others(619): Show c.439-33623_439-33622insCCCCTCCTCTCTCCCCTCCCTCTCTC CCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCC TCTCTCCCCCACCTCCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTTCCCC TCCTTCTCTCCCCTCCCTCTCTCCCCTCCCTCTTTCCCCCCTCCCCCTCC TTCTCTCTCCCCTTCCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTC TCATCCCCTTCCTCTTTCTCTCCCTCCCTCTCCTTCCCCTCCCTCCCACT CTCCCCCTCCCTCTCTCCCCCTTTCCCTCCCTCTCTCCCCTTCTCTCTCT TCTGCTCCTTCTCTCTCCCCCTTCCTCTCTCCCCTCCCTCTCTGTCCCCC TCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCTCTCTTCCCCTCCCTC CCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTGTCC CGTCCCTCTCTCCCCCTCCCTCTCTCCCCTCCCTCTCGTCCCTCTTCCCT CTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTCC CCTCCCTCTCTCCCCTCCCTCTCT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTDSS2_chr11_445279_496399	459034	A A	AGGACCTG others(593): Show AGGACCTGGGTTAGACGTGAGGACACACTCCGGTGAATGTAGGACCTGGG TTAGACGTGAGGGGACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTAGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTAGGACCTGGGTTAGACGTGAGGGGACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGAATGTAGGACCTGGG TTAGACGTGAGGACACACTCCAGTGGATGTAGGACCTGGGTTAGACGTGA GGACACACTCCGGTGAATGTAGGACCTGGGTTAGACGTGAGGGGACACTC CGGTGGATGCCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	346	0.0029	600	c.183 others(617): Show c.183-1034_183-1033insAGGACCTGGGTTAGACGTGAGGACACAC TCCGGTGGATGTAGGACCTGGGTTAGACGTGAGGGGACACTCCGGTGGAT GTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGAATGTAGGACCTG GGTTAGACGTGAGGACACACTCCAGTGGATGTAGGACCTGGGTTAGACGT GAGGACACACTCCGGTGAATGTAGGACCTGGGTTAGACGTGAGGGGACAC TCCGGTGGATGCCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGAT GTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTG GGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGT GAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACAC TCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGAT GTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGAATGTAGGACCTG GGTTAGACGTGAGGGGACACTCCGGTGGATGTCGGACCTGGGTTAGACGT GAGGACACACTCCGGTGGATGT	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	459034	A A	AGGACCTG others(593): Show AGGACCTGGGTTAGACGTGAGGACACACTCCGGTGAATGTAGGACCTGGG TTAGACGTGAGGGGACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGAATGT AGGACCTGGGTTAGACGTGAGGGGACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGAATGTAGGACCTGGGTTAGACGTGAGGGGACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGAATGTAGGACCTGGGTTAGACGTGAGGGGACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	346	0.0029	600	c.183 others(615): Show c.183-959_183-958insAATGTAGGACCTGGGTTAGACGTGAGGGGA CACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTG GATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGAATGTAGGAC CTGGGTTAGACGTGAGGGGACACTCCGGTGGATGTCGGACCTGGGTTAGA CGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACA CACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTG GATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGAATGTAGGAC CTGGGTTAGACGTGAGGGGACACTCCGGTGGATGTCGGACCTGGGTTAGA CGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACA CACTCCGGTGAATGTAGGACCTGGGTTAGACGTGAGGGGACACTCCGGTG GATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGAC CTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGA CGTGAGGACACACTCCGGTG	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	459177	C C	CACACTCC others(593): Show CACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGG TGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGAATGTAGG ACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTA GACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGA CACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGG TGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGG ACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTA GACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGA CACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGG TGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTAGG ACCTGGGTTAGACGTGAGGACACACTCTGGTGGATGTAGGACCTGGGTTA GACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGA T	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0050 a0001c0001t0010g0050	1	346	0.0029	600	c.183 others(615): Show c.183-919_183-918insAATGTAGGACCTGGGTTAGACGTGAGGACA CACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTG GATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGAC CTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGA CGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACA CACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTG GATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGAC CTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGA CGTGAGGACACACTCCGGTGGATGTAGGACCTGGGTTAGACGTGAGGACA CACTCTGGTGGATGTAGGACCTGGGTTAGACGTGAGGACACACTCCGGTG GATGTCGGACCTGGGTTAGACGTGAGGATACACTCCGGTGGATGTCGGAC CTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGA CGTGAGGACACACTCCGGTG	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTPRM_chr18_7562316_8411856	7985469	G G	GTATATAA others(593): Show GTATATAAATATATACATATACTGGTAGATACGTATGTAAATATATACAT ATACTGGTAGATACGTAAATATATACATATACTGGTAGATACGTATATAA ATATATACATATACTGGTAGATACGTATATAAATATATACATATACTGGT AGATACGTATGTAAATATATACATATACTGGTAGATACGTAAATATATAC ATATACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGT ATATAAATATATACATATACTGGTAGATACGTATATAAATATATACATAT ACTGGTAGATACGTAAATATATACATATACTGGTAGATACGTATATAAAT ATATACATATACTGGTAGATACGTATATAAATATATACATATACTGGTAG ATACGTATATAAATATATACATATACTGGTAGATACGTATATAAATATAT ACATATACTGGTAGATACGTATATAAATATATACATATACTGGTAGATAC GTATATAAATATATACATATACTGGTACATACGTATATAAATATATACAT ATACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTAT A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0074 a0001c0005t0003g0074	1	80	0.0125	600	c.113 others(621): Show c.1132+30057_1132+30058insTATAAATATATACATATACTGGTA GATACGTATGTAAATATATACATATACTGGTAGATACGTAAATATATACA TATACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTA TATAAATATATACATATACTGGTAGATACGTATGTAAATATATACATATA CTGGTAGATACGTAAATATATACATATACTGGTAGATACGTATATAAATA TATACATATACTGGTAGATACGTATATAAATATATACATATACTGGTAGA TACGTATATAAATATATACATATACTGGTAGATACGTAAATATATACATA TACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTATA TAAATATATACATATACTGGTAGATACGTATATAAATATATACATATACT GGTAGATACGTATATAAATATATACATATACTGGTAGATACGTATATAAA TATATACATATACTGGTAGATACGTATATAAATATATACATATACTGGTA CATACGTATATAAATATATACATATACTGGTAGATACGTATATAAATATA TACATATACTGGTAGATACGTATATA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	7/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
RASA3_chr13_113972783_114137623	114080898	T T	TAGTGCCC others(593): Show TAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGCCCCT CGGCAGAGGGCCGTCCACCCAAAACACCAAGAGTGCCCCTCGGCAGAGGG CCGTCCACCTAGAACACCAATAGTGCCCCTCGGCAGAGGGCCGTCCACCT AGAACACCAATAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAA GAGTGCCCCACGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGTCCCA CGGCAGAGGGCCGTCCACCCAAAACACCAATAGTGCCCCTCGGCAGAGGG CCGTCCACCTAGAACACCAAGAGTGCCCCACGGCAGAGGGCCGTCCACCT AGAACACCAATAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAA GAGTGCCCCACGGCAGAGGGCCGTCCACCTAGAACACCAATAGTGCCCCT CGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGCCCCTCGGCAGAGGG CCGTCCACCTAGAACACCAATAGTGCCCCTCGGCAGAGGGCCGTCCACCC AAAACACCAAGAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAA G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01993.hp2 HG02148.hp2 others(2): Show HG01361.hp2 HG01993.hp2 HG02148.hp2 NA18954.hp2 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0003 a0001c0002t0002 a0001c0003t0003	a0001c0002t0002g0019 a0001c0002t0002g0031 a0001c0003t0003g0020 others(2): Show a0001c0002t0002g0019 a0001c0002t0002g0031 a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0030	5	67	0.0746	600	c.56- others(615): Show c.56-7062_56-7061insCTTGGTGTTCTAGGTGGACGGCCCTCTGCC GAGGGGCACTCTTGGTGTTTTGGGTGGACGGCCCTCTGCCGAGGGGCACT ATTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACTCTTGGTGTTC TAGGTGGACGGCCCTCTGCCGAGGGGCACTATTGGTGTTCTAGGTGGACG GCCCTCTGCCGTGGGGCACTCTTGGTGTTCTAGGTGGACGGCCCTCTGCC GAGGGGCACTATTGGTGTTCTAGGTGGACGGCCCTCTGCCGTGGGGCACT CTTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACTATTGGTGTTT TGGGTGGACGGCCCTCTGCCGTGGGACACTCTTGGTGTTCTAGGTGGACG GCCCTCTGCCGTGGGGCACTCTTGGTGTTCTAGGTGGACGGCCCTCTGCC GAGGGGCACTATTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACT ATTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACTCTTGGTGTTT TGGGTGGACGGCCCTCTGCCGAGGGGCACTCTTGGTGTTCTAGGTGGACG GCCCTCTGCCGAGGGGCACT	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114099720	A A	ACAGCCCC others(593): Show ACAGCCCCCACACAGCCCCCACAGCAGCCCCCCCACAGCCCCCCCACAGC CCCCCACAGCCCCCCCAGCAGCCCCCACAGCAGCCCCCCCACAGCACCCC CCACAGCAGCCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCAC ACAGCCCCCACAGCAGCCCCCCCACAGCCCCCCACAGCCCCCCCAGCAGC CCCCACACAGCCCCCACAGCAGCCCCCCCACAGCCCCCCGCAGCCCCCCC AGCAGCCCCCACACAGCAGCCCCCCCACAGCCCCCCACAGCAGCCCCCCA CAGCAGCCCCCCCACAGCCCCCCGCAGCCCCCACAGCAGCCCCCCCACAG CCCCCCACAGCAGCCCCCCCACAGCCCCCCACAGCCCCCCCACAGCCCCC CCACAGCCCCCACAGCCCCCCACAGCCCCCCACAGCAGCCCCCCCACAGC CCCCCACAGCCCCCCACAGCCCCCCACAGCAGCCCCCCCACAGCCCCCCA CAGCCCCCACACAGCCCCCACAGCAGCCCCCCCACAGCCCCCCGCAGCCC CCACAGCAGCCCCCCCACAGCCCCCCACAGCAGCCCCCCCACAGCCCCCC C	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0022 a0001c0003t0003g0022	1	67	0.0149	600	c.56- others(617): Show c.56-25884_56-25883insGGGGGGGCTGTGGGGGGGCTGCTGTGGG GGGCTGTGGGGGGGCTGCTGTGGGGGCTGCGGGGGGCTGTGGGGGGGCTG CTGTGGGGGCTGTGTGGGGGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGG GGGGCTGTGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGCT GTGGGGGGCTGTGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGTGGGGGGC TGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGC GGGGGGCTGTGGGGGGGCTGCTGTGGGGGGCTGCTGTGGGGGGCTGTGGG GGGGCTGCTGTGTGGGGGCTGCTGGGGGGGCTGCGGGGGGCTGTGGGGGG GCTGCTGTGGGGGCTGTGTGGGGGCTGCTGGGGGGGCTGTGGGGGGCTGT GGGGGGGCTGCTGTGGGGGCTGTGTGGGGGCTGTGGGGGGGCTGCTGTGG GGGCTGTGGGGGGGCTGCTGTGGGGGGTGCTGTGGGGGGGCTGCTGTGGG GGCTGCTGGGGGGGCTGTGGGGGGCTGTGGGGGGGCTGTGGGGGGGCTGC TGTGGGGGCTGTGTGGGGGCTG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(593): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGG TCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGG TCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAG A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0187 a0002c0002t0001g0187	1	412	0.0024	600	c.205 others(615): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTCCTC TCTCCCCACCGCCCACGCCGACCCCTCCTCTCTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCTC ACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCACTGCCCACGCCG ACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAGGCCG ACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTCACTCCCCACT GCCCACGCCGACCCCTCCTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RECQL4_chr8_144506288_144522833	144513804	G G	GAGGGGTC others(593): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGTAGGGGTCGGCGTGGGCGGTGGGGAGTGAGTAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG T	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	412	0.0024	600	c.205 others(615): Show c.2059-93_2059-92insACTCACTCCCCACCGCCCACGCCGACCCCT CCTCACTCCCCACCGCCCACGCCGACCCCTACTCACTCCCCACCGCCCAC GCCGACCCCTACTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCC CACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCT CCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAC GCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCC CACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCT CCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAC GCCGACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCTCACTCCC CACCGCCCAGGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCT CCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAC GCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCC CACCGCCCACGCCGACCCCT	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar

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Search Results (Total: 10000 hits)