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
FAM133B_chr7_92555758_92595390	92576378	T T	TAAAAGAC others(302): Show TAAAAGACAAAGAGAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATGGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGTGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03471.hp1 HG03139.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0038 a0001c0001t0006g0041 a0001c0001t0006g0038 a0001c0001t0006g0041	2	328	0.0061	309	c.466 others(324): Show c.466-558_466-557insTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCACCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCCATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCTTCTCTTTGTCTTTT	FAM133B	ENSG00000234545.8	transcript	ENST00000445716.6	protein_coding	7/10			chr7	TogoVar
FAM171A1_chr10_15206643_15376289	15229788	A A	ACTATCAC others(302): Show ACTATCACCAACATCATCATCATCACCATCACCATCATCACCATCACCAT CATCACCATTGTCACCCCCCTCACCATCATCACCATCATCACCATTGTCA CCCCCATCACCATCACCAACGTCATCATCACCATCATCACCATCACCATC ATCACCATTGTCACCCCCCTCACCATCATCACCATCATCACCATTGTCAC CCCCATCACCATCACCAACGTCATCATCATCACCATCATCACCATCACCA TCATCACCATTGTCACCCCCATCACCATCATCACCATCACCATCATCACC ATTGTCACCC	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0162 a0001c0001t0022g0162	1	303	0.0033	309	c.755 others(326): Show c.755-8729_755-8728insGGGTGACAATGGTGATGATGGTGATGGT GATGATGGTGATGGGGGTGACAATGGTGATGATGGTGATGGTGATGATGG TGATGATGATGACGTTGGTGATGGTGATGGGGGTGACAATGGTGATGATG GTGATGATGGTGAGGGGGGTGACAATGGTGATGATGGTGATGGTGATGAT GGTGATGATGACGTTGGTGATGGTGATGGGGGTGACAATGGTGATGATGG TGATGATGGTGAGGGGGGTGACAATGGTGATGATGGTGATGGTGATGATG GTGATGGTGATGATGATGATGTTGGTGATAG	FAM171A1	ENSG00000148468.17	transcript	ENST00000378116.9	protein_coding	5/7			chr10	TogoVar
FASTKD3_chr5_7854159_7874031	7864812	G G	GAAAAAAA others(302): Show GAAAAAAAATCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03130.hp1 HG02109.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	2	462	0.0043	309	c.152 others(328): Show c.1524+1085_1524+1086insTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCGATTTTTTTT	FASTKD3	ENSG00000124279.12	transcript	ENST00000264669.10	protein_coding	3/6			chr5	TogoVar
FASTKD3_chr5_7854159_7874031	7864812	G G	GAAAAAAA others(302): Show GAAAAAAAATCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0068	1	462	0.0022	309	c.152 others(328): Show c.1524+1085_1524+1086insTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCGATTTTTTTT	FASTKD3	ENSG00000124279.12	transcript	ENST00000264669.10	protein_coding	3/6			chr5	TogoVar
FBRSL1_chr12_132485151_132590188	132576199	T T	TTTTTTTT others(302): Show TTTTTTTTTCTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCAGCC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01175.hp1 HG01516.hp1 others(2): Show HG00609.hp2 HG01175.hp1 HG01516.hp1 HG02257.hp1 HG03098.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0012	a0001c0005 a0002c0004 a0005c0052 others(1): Show a0001c0005 a0002c0004 a0005c0052 a0012c0018	a0001c0005t0006 a0002c0004t0001 a0005c0052t0006 others(1): Show a0001c0005t0006 a0002c0004t0001 a0005c0052t0006 a0012c0018t0009	a0001c0005t0006g0101 a0001c0005t0006g0267 a0002c0004t0001g0130 others(2): Show a0001c0005t0006g0101 a0001c0005t0006g0267 a0002c0004t0001g0130 a0005c0052t0006g0093 a0012c0018t0009g0065	5	348	0.0144	309	c.170 others(326): Show c.1702-589_1702-588insTTTTTTTTTTTTTTTCTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCA CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCAGCCTTTTTTTTCTT	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FIG4_chr6_109686296_109830426	109781773	C C	CAGATTTT others(302): Show CAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAG TGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTA GCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTC CCAAAGTGCT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0273 a0001c0003t0001g0273	1	370	0.0027	309	c.189 others(328): Show c.1890-3191_1890-3190insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC CGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCACCCGCCTCGGCCTCCCAAAGTGCTAGATTT	FIG4	ENSG00000112367.12	transcript	ENST00000230124.8	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
FLT4_chr5_180596506_180654600	180615395	G G	GGGCCCGC others(302): Show GGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCC GCCGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCCCCGCTGG TCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCCCGCCGGTCACCT CCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTC TCCACTTCCTTTTGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCAC TTCCTTTTGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTT TCGGAGCACT	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0061 a0002c0002t0001g0061	1	388	0.0026	309	c.321 others(326): Show c.3219+971_3219+972insAGTGCTCCGAAAGGAAGTGGAGAAGGGA GGTGACCGGCGGGCCCAGTGCTCCAAAAGGAAGTGGAGAAGGGAGGTGAC CAGCGGGGCCCAGTGCTCCAAAAGGAAGTGGAGAAGGGAGGTGACCGGCG GGCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGGTGACCGGCGGGCCCA GTGCTCCAAAAGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAGTGCT CCAAAAGGAAGTGGAGAAGGGAGGTGACCGGCGGGCCCAGTGCTCCGAAA GGAAGTGGAGAAGGGAGGTGACCGGCGGGCC	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FOXN3_chr14_89151177_89422233	89361985	C C	CCACCACC others(302): Show CCACCACCACCACCACCTCCACCACCACCTCCACCACCACCACCTCCAGC ACTACCTCCACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCAC CACCACCTCCACCACCACCTCCACCACCACCACCTCCAGCACTACCTCCA CCACCACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACCACCTCC ACCACCACCACCTCCAGCACCACCACCACCTCCTCCTCCTCCACCACTAC CACCTCCACCACCACCACCACCACCACCTCCACCACTACCACCTCCAGCA CCACCTCCAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0008 a0001c0001t0033g0008	1	230	0.0044	309	c.544 others(328): Show c.544-11178_544-11177insCTGGAGGTGGTGCTGGAGGTGGTAGT GGTGGAGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTAGTGGTGGAGGAGG AGGAGGTGGTGGTGGTGCTGGAGGTGGTGGTGGTGGAGGTGGTGCTGGAG GTGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTGGTGGAGGTAGTGCTGGA GGTGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGG TGGAGGTGGTGCTGGAGGTGGTGGTGGAGGTAGTGCTGGAGGTGGTGGTG GTGGAGGTGGTGGTGGAGGTGGTGGTGGTGGTG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXN3_chr14_89151177_89422233	89362039	C C	CCACCACC others(302): Show CCACCACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCACT ACCACCTCCAGCACCACCTCCACCACCACCTCCACCACCACCACCTCCAG CACCACCACCACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCA CTACCACCTCCAGCACCACCTCCACCACTACCACCTCCAGCACCACCTCC ACCACTACCACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACCAC CTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTA CCACCTCCAG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0141 a0001c0001t0003g0141	1	230	0.0044	309	c.544 others(328): Show c.544-11232_544-11231insCTGGAGGTGGTAGTGGTGGAGGTGGT GGTGGAGGTGGTGCTGGAGGTGGTAGTGGTGGAGGTGGTGCTGGAGGTGG TGGTGGTGGAGGTGGTGCTGGAGGTGGTAGTGGTGGAGGTGGTGCTGGAG GTGGTAGTGGTGGAGGTGGTGCTGGAGGTGGTAGTGGTGGAGGTGGTGGT GGAGGTGGTGCTGGAGGTGGTGGTGGTGGTGGTGCTGGAGGTGGTGGTGG TGGAGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTAGTGGTGGAGGTGGTG GTGGAGGTGGTGCTGGAGGTGGTGGTGGTGGTG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FRAS1_chr4_78052323_78549269	78238351	T T	TTAAAAAA others(302): Show TTAAAAAAGCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01175.hp2 HG02109.hp2 others(5): Show HG00735.hp2 HG01175.hp2 HG02109.hp2 HG02451.hp2 HG02572.hp1 HG03710.hp1 HG03942.hp1 NA19030.hp1	a0001 a0008 a0016 others(5): Show a0001 a0008 a0016 a0029 a0030 a0031 a0061 a0064	a0001c0001 a0008c0006 a0016c0014 others(5): Show a0001c0001 a0008c0006 a0016c0014 a0029c0032 a0030c0030 a0031c0031 a0061c0083 a0064c0084	a0001c0001t0010 a0008c0006t0042 a0016c0014t0007 others(5): Show a0001c0001t0010 a0008c0006t0042 a0016c0014t0007 a0029c0032t0005 a0030c0030t0002 a0031c0031t0002 a0061c0083t0041 a0064c0084t0004	a0001c0001t0010g0142 a0008c0006t0042g0109 a0016c0014t0007g0147 others(5): Show a0001c0001t0010g0142 a0008c0006t0042g0109 a0016c0014t0007g0147 a0029c0032t0005g0038 a0030c0030t0002g0029 a0031c0031t0002g0041 a0061c0083t0041g0112 a0064c0084t0004g0156	8	178	0.0449	309	c.216 others(324): Show c.216+744_216+745insAGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTCGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAATAAAAAAGCT	FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	3/73		INFO_REALIGN_3_PRIME	chr4	TogoVar
FSTL5_chr4_161378897_162169000	161435496	T T	TAAAATCT others(302): Show TAAAATCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGG CTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGG CGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0099 a0001c0003t0014g0099	1	142	0.0070	309	c.184 others(330): Show c.1841+19507_1841+19508insTTTTTTTTTTTTTTTTTTTTGAGA TGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCTAGATTTT	FSTL5	ENSG00000168843.14	transcript	ENST00000306100.10	protein_coding	15/15			chr4	TogoVar
GABBR2_chr9_98283109_98713935	98393157	C C	CCCATCCA others(302): Show CCCATCCATCCATCCATCCATCCATCTATCCATCCACTTGATCAATTCAT CTATCCATCTACCCAGCCATCCATCTGTCCACCCATCTACCTGTCCATCT ATCCACTCACCCACCCACCCACATACCTATCCATCTATCCATCCATCCGC CCATTCACACACCCATCCAGGCATCCACCCAACCATCCATCCATCCATCC ATCCATCCACACACCCACTCATCCACCCAACCATCCATCCATCCACTCAT CCACTCATCCACCCAACCATCCATCCATCCACTCATCCACCAACCCATCC ATCCATCCAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02280.hp1 HG02630.hp2 others(6): Show HG02145.hp2 HG02280.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp2 HG02922.hp2 HG03471.hp1 HG03486.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0004 others(3): Show a0001c0001 a0001c0005 a0002c0004 a0002c0009 a0002c0012 a0002c0019	a0001c0001t0011 a0001c0001t0043 a0001c0005t0013 others(5): Show a0001c0001t0011 a0001c0001t0043 a0001c0005t0013 a0002c0004t0002 a0002c0004t0006 a0002c0009t0006 a0002c0012t0002 a0002c0019t0006	a0001c0001t0011g0061 a0001c0001t0043g0077 a0001c0005t0013g0072 others(6): Show a0001c0001t0011g0061 a0001c0001t0043g0077 a0001c0005t0013g0072 a0001c0005t0013g0118 a0002c0004t0002g0043 a0002c0004t0006g0112 a0002c0009t0006g0109 a0002c0012t0002g0017 a0002c0019t0006g0067	9	164	0.0549	309	c.137 others(328): Show c.1378+1017_1378+1018insATGGATGGATGGATGGGTTGGTGGAT GAGTGGATGGATGGATGGTTGGGTGGATGAGTGGATGAGTGGATGGATGG ATGGTTGGGTGGATGAGTGGGTGTGTGGATGGATGGATGGATGGATGGAT GGTTGGGTGGATGCCTGGATGGGTGTGTGAATGGGCGGATGGATGGATAG ATGGATAGGTATGTGGGTGGGTGGGTGAGTGGATAGATGGACAGGTAGAT GGGTGGACAGATGGATGGCTGGGTAGATGGATAGATGAATTGATCAAGTG GATGGATAGATGGATGGATGGATGGATGGATGG	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	9/18			chr9	TogoVar
GABBR2_chr9_98283109_98713935	98393157	C C	CCCATCCA others(302): Show CCCATCCATCCATCCATCCATCCGTCTATCCATCCACTTGATCAATTCAT CTATCCATCTACCCAGCCATCCATCTGTCCACCCATCTACCTGTCCATCT ATCCACTCACCCACCCACCCACATACCTATCCATCTATCCATCCATCCGC CCATTCACACACCCATCCAGGCATCCACCCAACCATCCATCCATCCATCC ATCCATCCACACACCCACTCATCCACCCAACCATCCATCCATCCACTCAT CCACTCATCCACCCAACCATCCATCCATCCACTCATCCACCAACCCATCC ATCCATCCAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0010 a0001c0025t0010	a0001c0025t0010g0012 a0001c0025t0010g0012	1	164	0.0061	309	c.137 others(328): Show c.1378+1017_1378+1018insATGGATGGATGGATGGGTTGGTGGAT GAGTGGATGGATGGATGGTTGGGTGGATGAGTGGATGAGTGGATGGATGG ATGGTTGGGTGGATGAGTGGGTGTGTGGATGGATGGATGGATGGATGGAT GGTTGGGTGGATGCCTGGATGGGTGTGTGAATGGGCGGATGGATGGATAG ATGGATAGGTATGTGGGTGGGTGGGTGAGTGGATAGATGGACAGGTAGAT GGGTGGACAGATGGATGGCTGGGTAGATGGATAGATGAATTGATCAAGTG GATGGATAGACGGATGGATGGATGGATGGATGG	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	9/18			chr9	TogoVar
GALR1_chr18_77244848_77282900	77252918	C C	CACCACCA others(302): Show CACCACCATCACCACCATCACCACCACCACCACCACCACCACCACCACCA TCACCACCATCACCACCACCACCACCACCACCACCACCATCACCACCACC ACCATCACCACCACCACCACCACCACCACCACCATCACCACCACCACCAC CACCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCA CCACCATCACCACCACCACCACCACCACCATCACCATCACCACCATCACC ACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCAC CACCACCACG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0237 a0001c0001t0023g0237	1	366	0.0027	309	c.666 others(326): Show c.666+1708_666+1709insCCATCACCACCATCACCACCACCACCAC CACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCA CCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCAC CACCACCACCATCACCACCACCATCACCACCACCACCACCACCACCATCA CCATCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACC ACCATCACCACCACCACCACCACCACGACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77252959	T T	TCACCACC others(302): Show TCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACC ACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCAC CATCACCACCACCACCATCACCACCACCACCACCATCACCACCACCACCA CCACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCACC ACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCATCACCACCATCACCA CCACCACCAC	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0205 a0001c0002t0002g0205	1	366	0.0027	309	c.666 others(326): Show c.666+1756_666+1757insCCACCACCACCACCACCACCATCACCAC CACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCA CCACCACCACCATCACCACCACCACCATCACCACCACCACCACCATCACC ACCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCAC CATCACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCATCACC ACCATCACCACCACCACCACCACCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77252992	C C	CCACCACC others(302): Show CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATC ACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCACCAC CACCATCACCACCACCACCATCACCACCATCACCACCATCACCATCACCA CCACCACCACCACCACCACCATCACCACCACCACCATCACCACCATCACC ACCACCACCATCACCACCACCACCACCATCACCACCATCACCACCACCAC CATCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCA CCACCACCAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0111 a0001c0001t0078g0111	1	366	0.0027	309	c.666 others(326): Show c.666+1801_666+1802insTCACCACCACCACCACCACCACCATCAC CACCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCA CCATCACCACCACCACCATCACCACCATCACCACCATCACCATCACCACC ACCACCACCACCACCACCATCACCACCACCACCATCACCACCATCACCAC CACCACCATCACCACCACCACCACCATCACCACCATCACCACCACCACCA TCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GANC_chr15_42268201_42358666	42341093	T T	TAAAAAGT others(302): Show TAAAAAGTGTAATTATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACCACACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG00735.hp2 others(26): Show HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp1 HG01168.hp2 HG01243.hp2 HG01361.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG02055.hp1 HG02055.hp2 HG02148.hp1 HG02602.hp1 HG02738.hp2 HG02895.hp2 HG02897.hp1 HG03239.hp1 HG03486.hp1 HG03654.hp2 HG03831.hp2 HG03942.hp1 HG04199.hp1 HG04228.hp2 NA18990.hp1 NA20129.hp2 NA20805.hp1	a0003 a0009 a0013 a0003 a0009 a0013	a0003c0003 a0009c0009 a0013c0016 a0003c0003 a0009c0009 a0013c0016	a0003c0003t0005 a0003c0003t0012 a0009c0009t0010 others(1): Show a0003c0003t0005 a0003c0003t0012 a0009c0009t0010 a0013c0016t0005	a0003c0003t0005g0011 a0003c0003t0005g0107 a0003c0003t0005g0108 others(26): Show a0003c0003t0005g0011 a0003c0003t0005g0107 a0003c0003t0005g0108 a0003c0003t0005g0109 a0003c0003t0005g0110 a0003c0003t0005g0111 a0003c0003t0005g0112 a0003c0003t0005g0113 a0003c0003t0005g0114 a0003c0003t0005g0115 a0003c0003t0005g0116 a0003c0003t0005g0117 a0003c0003t0005g0118 a0003c0003t0005g0119 a0003c0003t0005g0120 a0003c0003t0005g0121 a0003c0003t0005g0122 a0003c0003t0005g0123 a0003c0003t0005g0124 a0003c0003t0012g0097 a0003c0003t0012g0098 a0003c0003t0012g0099 a0003c0003t0012g0100 a0009c0009t0010g0053 a0009c0009t0010g0054 a0009c0009t0010g0125 a0009c0009t0010g0126 a0013c0016t0005g0104 a0013c0016t0005g0105	29	262	0.1107	309	c.215 others(326): Show c.2152+353_2152+354insTGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCGCGCCACCACACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAGTGTAATTA	GANC	ENSG00000214013.10	transcript	ENST00000318010.13	protein_coding	18/23		INFO_REALIGN_3_PRIME	chr15	TogoVar
GDF2_chr10_47317454_47332588	47319409	T T	TAAATTTT others(302): Show TAAATTTTATCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00609.hp1 others(20): Show HG00280.hp2 HG00408.hp1 HG00609.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01256.hp1 HG01934.hp1 HG01952.hp2 HG01981.hp2 HG02683.hp1 HG02683.hp2 HG02895.hp2 HG03017.hp2 NA18945.hp1 NA18945.hp2 NA18962.hp2 NA18965.hp1 NA18980.hp1 NA19043.hp2 NA19056.hp2 NA19080.hp2 NA20805.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0005 a0001c0001 a0008c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0016 a0008c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0002g0001 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0002g0001 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0024 a0001c0001t0006g0001 a0001c0001t0016g0001 a0008c0005t0001g0013	23	424	0.0543	309	c.-32 others(320): Show c.-3260_-3259insAAATTTTATCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAA	GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding		3044		chr10	TogoVar
GDF2_chr10_47317454_47332588	47319413	T T	TTTTATCA others(302): Show TTTTATCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGAT CACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGT CTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	424	0.0024	309	c.-32 others(320): Show c.-3256_-3255insTTTATCACGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAA ACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAA	GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding		3040		chr10	TogoVar
GET4_chr7_871554_901436	890415	C C	CGGGGTCT others(302): Show CGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTCAGGACGGGGTCTGG GAGTGGAGGGAGTGCGAGCAGGTGTCAGGACGGGGTCTGGGAGTGGAGGG AGCGAGAGTGGGTGTTGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTC AGGACGGGGTCTGGGAGTGGAGGGAGTGCGAGTGGGTGTTAGGACGGGGT CTGGGAGTGGAGGGAGCGTGAGCGGGTGTCAGGACGGGGTCTGGGAGTGG AGGGAGTGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAG AGTGGGTGTT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0151 a0001c0002t0002g0151	1	384	0.0026	309	c.467 others(324): Show c.467-510_467-509insGTCTGGGAGTGGAGGGAGCGTGAGCGGGTG TCAGGACGGGGTCTGGGAGTGGAGGGAGTGCGAGCAGGTGTCAGGACGGG GTCTGGGAGTGGAGGGAGCGAGAGTGGGTGTTGGGCCTGGGAGTGGAGGG AGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGTGCGAGTG GGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTCAGGA CGGGGTCTGGGAGTGGAGGGAGTGCGAGCGGGTGTCAGGACGGGGTCTGG GAGTGGAGGGAGCGAGAGTGGGTGTTGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	890415	C C	CGGGGTCT others(302): Show CGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTCAGGACGGGGTCTGG GAGTGGAGGGAGTGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGG AGCGAGAGTGAGTGTTGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTC AGGACGGGGTCTGGGAGTGGAGGGAGTGCGAGTGGGTGTTAGGACGGGGT CTGGGAGTGGAGGGAGCGTGAGCGGGTGTCAGGACGGGGTCTGGGAGTGG AGGGAGTGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAG AGTGGGTGTT	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0158 a0001c0002t0002g0158	1	384	0.0026	309	c.467 others(324): Show c.467-510_467-509insGTCTGGGAGTGGAGGGAGCGTGAGCGGGTG TCAGGACGGGGTCTGGGAGTGGAGGGAGTGCGAGCGGGTGTCAGGACGGG GTCTGGGAGTGGAGGGAGCGAGAGTGAGTGTTGGGCCTGGGAGTGGAGGG AGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGTGCGAGTG GGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTCAGGA CGGGGTCTGGGAGTGGAGGGAGTGCGAGCGGGTGTCAGGACGGGGTCTGG GAGTGGAGGGAGCGAGAGTGGGTGTTGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	890415	C C	CGGGGTCT others(302): Show CGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTCAGGACGGGGTCTGG GAGTGGAGGGAGTGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGG AGCGAGAGTGGGTGTTGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTC AGGACGGGGTCTGGGAGTGGAGGGAGTGCGAGTGGGTGTTAGGACGGGGT CTGGGAGTGGAGGGAGCGTGAGCGGGTGTCAGGACGGGGTCTGGGAGTGG AGGGAGTGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAG AGTGGGTGTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00621.hp2 HG02056.hp1 others(19): Show HG00544.hp1 HG00621.hp2 HG02056.hp1 HG02132.hp1 HG03927.hp1 NA18939.hp2 NA18953.hp2 NA18962.hp2 NA18973.hp2 NA18979.hp2 NA18982.hp1 NA18994.hp1 NA18999.hp1 NA19005.hp2 NA19007.hp1 NA19064.hp2 NA19068.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19086.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0015	a0001c0002t0001g0141 a0001c0002t0001g0144 a0001c0002t0001g0147 others(19): Show a0001c0002t0001g0141 a0001c0002t0001g0144 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0157 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0140 a0001c0002t0002g0142 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0149 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0161 a0001c0002t0002g0162 a0001c0002t0007g0143 a0001c0002t0007g0160 a0001c0002t0015g0135	22	384	0.0573	309	c.467 others(324): Show c.467-510_467-509insGTCTGGGAGTGGAGGGAGCGTGAGCGGGTG TCAGGACGGGGTCTGGGAGTGGAGGGAGTGCGAGCGGGTGTCAGGACGGG GTCTGGGAGTGGAGGGAGCGAGAGTGGGTGTTGGGCCTGGGAGTGGAGGG AGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGTGCGAGTG GGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTCAGGA CGGGGTCTGGGAGTGGAGGGAGTGCGAGCGGGTGTCAGGACGGGGTCTGG GAGTGGAGGGAGCGAGAGTGGGTGTTGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GFRA2_chr8_21685398_21793875	21697124	A A	AGAAGGGG others(302): Show AGAAGGGGAAGGGGACAGAGGCAGAGGGGAAGGGACAGAGGAGATGGGAG GGGAGAGAAGGGGAAGGGGACAGAGGCAGAGGGGAAGGGACAGAGGAGAG GGGAGGGGACAGAGGAGAGGGGAGGGGACAGAGGGTAAGGGGACAGAGGA GGGGGGAGGGGACACAGGAGAGGAGGGGACAGAGGATGAGGGAGGGAACA GAGGGGAGGGGAAGGGACAGAGGAGAGGGGAGGGGTCACAGGAGAGGGGA GGGGCCAGAGGAAAGGGGAAGGGACAGAGGAGAGGGGAGGGGAGAGAAGG GGGAGGGGAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03098.hp1 HG02647.hp2 HG03098.hp1	a0002 a0005 a0002 a0005	a0002c0021 a0005c0012 a0002c0021 a0005c0012	a0002c0021t0010 a0005c0012t0010 a0002c0021t0010 a0005c0012t0010	a0002c0021t0010g0225 a0005c0012t0010g0198 a0002c0021t0010g0225 a0005c0012t0010g0198	2	322	0.0062	309	c.121 others(328): Show c.1219-2608_1219-2607insGTCCCCTCCCCCTTCTCTCCCCTCCC CTCTCCTCTGTCCCTTCCCCTTTCCTCTGGCCCCTCCCCTCTCCTGTGAC CCCTCCCCTCTCCTCTGTCCCTTCCCCTCCCCTCTGTTCCCTCCCTCATC CTCTGTCCCCTCCTCTCCTGTGTCCCCTCCCCCCTCCTCTGTCCCCTTAC CCTCTGTCCCCTCCCCTCTCCTCTGTCCCCTCCCCTCTCCTCTGTCCCTT CCCCTCTGCCTCTGTCCCCTTCCCCTTCTCTCCCCTCCCATCTCCTCTGT CCCTTCCCCTCTGCCTCTGTCCCCTTCCCCTTC	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	7/8			chr8	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGAA others(302): Show GGGAGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGGGAGG GAGGGGAAGGGAGGGGAAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGG GAGGGAGGGGAAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGG GAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGA GGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGG GGAAGGGAGGGAGGGAGGGGAAGGAAGGAAGGGAGGGAGGGGAAGGAAGG GAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0012 a0001c0001t0038g0012	1	188	0.0053	309	c.229 others(328): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTC CCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCC CCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCC TCCCTCCCTCCCTTCCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTCCCTT CCCCTCCCTCCCTCCCTTCCCCTCCCTTCCCCTCCCTCCCTCCCTTCCCC TCCCTTCCCCTCCCTCCCTCCCTCCCTTCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GLT6D1_chr9_135618648_135644540	135620055	A A	ACTCCCCC others(302): Show ACTCCCCCTTCTCCCCCGTCTCCCCTGTCTGCCCAGTCTCCCCCATCTCC CCCTACTCCCCCTTCTCCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCC CCTCTACTCCCCCTTCTCCCCCTACTCCCCCGTCTCCCCCGTCTCCCCTG TCTGCCCAGTCTCCCCCATCTCCCCCTACTCCCCCTTCTCCCCCTACTCC TTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCCCTTCTCCCCCTACTC CCCCGTCTCCCCCGTCTCCCCCTTCTCCCCCTTTTCCCCCTACTCCCCCT TCTCCCCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	436	0.0023	309	c.40 others(320): Show c.4041_*4042insATGGGGGAGAAGGGGGAGTAGGGGGAAAAGGGGG AGAAGGGGGAGACGGGGGAGACGGGGGAGTAGGGGGAGAAGGGGGAGTAG AGGGGGAAGGGGGAGAAGGGGGAGAAGGAGTAGGGGGAGAAGGGGGAGTA GGGGGAGATGGGGGAGACTGGGCAGACAGGGGAGACGGGGGAGACGGGGG AGTAGGGGGAGAAGGGGGAGTAGAGGGGGAAGGGGGAGAAGGGGGAGAAG GAGTAGGGGGAGAAGGGGGAGTAGGGGGAGATGGGGGAGACTGGGCAGAC AGGGGAGACGGGGGAGAAGGGGGAG	GLT6D1	ENSG00000204007.8	transcript	ENST00000371763.6	protein_coding		3592		chr9	TogoVar
GRID1_chr10_85594552_86371795	86203534	T T	TAAAATTT others(302): Show TAAAATTTTACAGAAACTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG GTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCCGGGCGTGG TGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp2 HG01109.hp2 others(5): Show HG00642.hp2 HG00741.hp2 HG01109.hp2 HG01516.hp2 HG01952.hp2 HG03490.hp2 HG03492.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0009 a0001c0001t0016 others(4): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0016 a0001c0001t0019 a0001c0002t0004 a0001c0003t0001 a0001c0003t0007	a0001c0001t0002g0021 a0001c0001t0009g0014 a0001c0001t0016g0042 others(5): Show a0001c0001t0002g0021 a0001c0001t0009g0014 a0001c0001t0016g0042 a0001c0001t0016g0043 a0001c0001t0019g0041 a0001c0002t0004g0069 a0001c0003t0001g0011 a0001c0003t0007g0007	8	96	0.0833	309	c.520 others(326): Show c.520+2829_520+2830insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGTTTCTGTAAAATTTT	GRID1	ENSG00000182771.19	transcript	ENST00000327946.12	protein_coding	3/15			chr10	TogoVar
GRK4_chr4_2958571_3045760	2961329	T T	TGATCCAC others(302): Show TGATCCACACTCTAGCCTCACAACCATCACACTAACTATCAGAAACCTCT CACTACCACACAACCACCTCTCTAACTACTCAAGCTCACACTCTTCACTA TCCGTTACCTCTATTACTACTATAGTCCACACACTACCCACTCAACCACC ACATATAACTGACACAACCACACACTACCCACACTACCACCACACGTAAC TATCTAAGAACACTCACGACCCACACTACCACCACACGTAACTACTCTAC CTACTATCGTACCCTCTACTAACCTACTAGTAACCAGTCTAAACCTCCCA CCCTACCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0259 a0002c0015t0001g0259	1	268	0.0037	309	c.-27 others(320): Show c.-2742_-2741insGATCCACACTCTAGCCTCACAACCATCACACTAA CTATCAGAAACCTCTCACTACCACACAACCACCTCTCTAACTACTCAAGC TCACACTCTTCACTATCCGTTACCTCTATTACTACTATAGTCCACACACT ACCCACTCAACCACCACATATAACTGACACAACCACACACTACCCACACT ACCACCACACGTAACTATCTAAGAACACTCACGACCCACACTACCACCAC ACGTAACTACTCTACCTACTATCGTACCCTCTACTAACCTACTAGTAACC AGTCTAAACCTCCCACCCTACCTAC	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding		2241		chr4	TogoVar
GUCY1A2_chr11_106669019_107023476	106709951	C C	CATATAGT others(302): Show CATATAGTTATATATTATATACATGTATATAACATAGTTATATATTATAT ACATGTATATAACATATAGTTATATATTATATACATGTATATAACATATA GTTATATATTATATACATGTATATAACATATAGTTATATATTATATACAT GTATATAACATATAGTTATATATTATATACATGTATATAACATATAGTTA TATATTATATACATGTATATAACATATAGTTATGTATATTATATACATGT ATATAACATAGTTATATACATATAACTATATGTATATAATATATAGTACA TGTATATAAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01884.hp2 HG02109.hp1 others(3): Show HG00673.hp1 HG01884.hp2 HG02109.hp1 HG03471.hp2 HG03540.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009	a0001c0001t0030 a0001c0002t0001 a0001c0003t0003 others(1): Show a0001c0001t0030 a0001c0002t0001 a0001c0003t0003 a0001c0009t0001	a0001c0001t0030g0163 a0001c0002t0001g0202 a0001c0003t0003g0238 others(3): Show a0001c0001t0030g0163 a0001c0002t0001g0202 a0001c0003t0003g0238 a0001c0003t0003g0241 a0001c0003t0003g0253 a0001c0009t0001g0130	6	256	0.0234	309	c.183 others(328): Show c.1837-1286_1837-1285insATTATATACATGTACTATATATTATA TACATATAGTTATATGTATATAACTATGTTATATACATGTATATAATATA CATAACTATATGTTATATACATGTATATAATATATAACTATATGTTATAT ACATGTATATAATATATAACTATATGTTATATACATGTATATAATATATA ACTATATGTTATATACATGTATATAATATATAACTATATGTTATATACAT GTATATAATATATAACTATATGTTATATACATGTATATAATATATAACTA TGTTATATACATGTATATAATATATAACTATAT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	106709951	C C	CATATAGT others(302): Show CATATAGTTATATATTATATACATGTATATAACATATAGTTATATATTAT ATACATGTATATAACATAGTTATATATTATATACATGTATATAACATATA GTTATATATTATATACATGTATATAACATATAGTTATATATTATATACAT GTATATAACATATAGTTATATATTATATACATGTATATAACATATAGTTA TATATTATATACATGTATATAACATATAGTTATGTATATTATATACATGT ATATAACATAGTTATATACATATAACTATATGTATATAATATATAGTACA TGTATATAAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00642.hp2 HG00735.hp1 others(26): Show HG00408.hp2 HG00642.hp2 HG00735.hp1 HG01070.hp1 HG01071.hp1 HG01106.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01516.hp2 HG01952.hp1 HG02055.hp2 HG02083.hp1 HG02155.hp1 HG02523.hp1 HG02559.hp2 HG03942.hp1 HG04115.hp1 NA18944.hp1 NA18953.hp2 NA18971.hp1 NA18981.hp1 NA18988.hp1 NA19003.hp2 NA19005.hp2 NA19011.hp1 NA19011.hp2 NA19056.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0033 a0001c0001t0051 a0001c0001t0053 a0001c0002t0002 a0001c0002t0021 a0001c0004t0002 a0001c0004t0006 a0001c0008t0054 a0001c0008t0070	a0001c0001t0001g0141 a0001c0001t0002g0006 a0001c0001t0002g0007 others(26): Show a0001c0001t0001g0141 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0013 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0089 a0001c0001t0002g0098 a0001c0001t0002g0153 a0001c0001t0002g0156 a0001c0001t0003g0062 a0001c0001t0003g0088 a0001c0001t0003g0145 a0001c0001t0005g0095 a0001c0001t0006g0151 a0001c0001t0012g0087 a0001c0001t0012g0103 a0001c0001t0033g0004 a0001c0001t0051g0112 a0001c0001t0053g0099 a0001c0002t0002g0208 a0001c0002t0021g0178 a0001c0002t0021g0179 a0001c0004t0002g0211 a0001c0004t0006g0199 a0001c0008t0054g0020 a0001c0008t0070g0024	29	256	0.1133	309	c.183 others(328): Show c.1837-1286_1837-1285insATTATATACATGTACTATATATTATA TACATATAGTTATATGTATATAACTATGTTATATACATGTATATAATATA CATAACTATATGTTATATACATGTATATAATATATAACTATATGTTATAT ACATGTATATAATATATAACTATATGTTATATACATGTATATAATATATA ACTATATGTTATATACATGTATATAATATATAACTATATGTTATATACAT GTATATAATATATAACTATGTTATATACATGTATATAATATATAACTATA TGTTATATACATGTATATAATATATAACTATAT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
HAAO_chr2_42762089_42797583	42796927	G G	GCATTTTT others(302): Show GCATTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAACTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01934.hp1 HG01978.hp2 others(15): Show HG01123.hp2 HG01934.hp1 HG01978.hp2 HG02148.hp2 HG02273.hp2 HG02451.hp2 HG02572.hp2 HG02683.hp1 HG02738.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03492.hp1 HG03710.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0018 a0001c0001t0001g0298 a0001c0001t0001g0305 others(15): Show a0001c0001t0001g0018 a0001c0001t0001g0298 a0001c0001t0001g0305 a0001c0001t0001g0310 a0001c0001t0001g0316 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0001g0329 a0001c0001t0001g0336 a0001c0001t0001g0342 a0001c0001t0001g0381 a0001c0001t0004g0303 a0001c0001t0004g0304 a0001c0001t0004g0306 a0001c0001t0004g0308 a0001c0001t0004g0314 a0001c0001t0004g0350	18	410	0.0439	309	c.-43 others(320): Show c.-4392_-4391insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAGAAAAAATG	HAAO	ENSG00000162882.15	transcript	ENST00000294973.11	protein_coding		4345		chr2	TogoVar
HAAO_chr2_42762089_42797583	42796927	G G	GCATTTTT others(302): Show GCATTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGGCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAACTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG03453.hp2 HG02818.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0229 a0001c0001t0001g0230	2	410	0.0049	309	c.-43 others(320): Show c.-4392_-4391insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGCCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAGAAAAAATG	HAAO	ENSG00000162882.15	transcript	ENST00000294973.11	protein_coding		4345		chr2	TogoVar
HACL1_chr3_15555699_15606569	15597657	T T	TGGATCAT others(302): Show TGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	428	0.0023	309	c.187 others(326): Show c.187-1234_187-1233insGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAACAAAGATTATGATCC	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	2/16			chr3	TogoVar
HIF3A_chr19_46292042_46348433	46313824	G G	GCTAATTT others(302): Show GCTAATTTTTATATATTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0081 a0001c0005t0001g0081	1	418	0.0024	309	c.102 others(328): Show c.1025+1184_1025+1185insATTTTTTTTTTTTTTGAGACGGAGTC TTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTAATTTTTATAT	HIF3A	ENSG00000124440.16	transcript	ENST00000377670.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
HPCAL1_chr2_10297904_10432604	10399217	C C	CCACCACC others(302): Show CCACCACCACCACCGCCGCTGCCGCTACCACCATCACCACCACCACCACC ACCATCACCACCACCACCACCACCACCATCACCACCATCACCACCACCAC CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCACCACCACCATCACCATCACCACCACCACCACCACCACCACCATCACC ACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCACCAC CACCATCACCACCATCACCACCACCACCACCATCACCACCACCACCACCA CCACCACCAT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	314	0.0032	309	c.-25 others(326): Show c.-25+2310_-25+2311insGCCGCTGCCGCTACCACCATCACCACCA CCACCACCACCATCACCACCACCACCACCACCACCATCACCACCATCACC ACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CACCACCACCACCACCACCATCACCATCACCACCACCACCACCACCACCA CCATCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCATCACCACCATCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCATCACCACCACCACC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10399265	C C	CCATCATC others(302): Show CCATCATCACCGCCATCACCACCACCATCACCATCATCACCACCACCACC ACCACCACCACCACCACCATCACCATCATCACCGCCGCCACCACCACCAC CATCACCATCACCACCACCACCACCACCACCATCACCATCATCACCACCA CCATCACCATCACCACCACCACCACCACCACCACCACCATCACCACCACC ATCACCATCACCACCACCACCACCACCACCATCACCATCATCACCACCAC CACCACCACCACCACCATCACCACCGCCACCATCACCACCACCACCACCA TCACCACCAT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	314	0.0032	309	c.-25 others(326): Show c.-25+2347_-25+2348insTCATCACCGCCATCACCACCACCATCAC CATCATCACCACCACCACCACCACCACCACCACCACCATCACCATCATCA CCGCCGCCACCACCACCACCATCACCATCACCACCACCACCACCACCACC ATCACCATCATCACCACCACCATCACCATCACCACCACCACCACCACCAC CACCACCATCACCACCACCATCACCATCACCACCACCACCACCACCACCA TCACCATCATCACCACCACCACCACCACCACCACCATCACCACCGCCACC ATCACCACCACCACCACCATCACCACCATCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10399442	T T	TCACCACC others(302): Show TCACCACCGCCACCACCACCACCATCACCACCACCACCATCACCATCATC ACCACCACCACCACCACCATCACCACCACCATCACCATCACCACCACCAT CACCACCGCCACCACCACCACCATCACCACCACCACCACCATCACCACCA CCATCATCACCACCATCACCACCACCATCATCACCACCATCACCACCGCC ACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCAC CACCATCACCACCACCATCATCACCACCATCACCACCACCATCATCACCA CCATCATCAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	314	0.0032	309	c.-25 others(326): Show c.-25+2527_-25+2528insCCGCCACCACCACCACCATCACCACCAC CACCATCACCATCATCACCACCACCACCACCACCATCACCACCACCATCA CCATCACCACCACCATCACCACCGCCACCACCACCACCATCACCACCACC ACCACCATCACCACCACCATCATCACCACCATCACCACCACCATCATCAC CACCATCACCACCGCCACCACCACCACCATCACCACCACCACCACCACCA CCATCACCACCACCACCACCATCACCACCACCATCATCACCACCATCACC ACCACCATCATCACCACCATCATCACCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HRH3_chr20_62209960_62225278	62213614	G G	GGGAGAGC others(302): Show GGGAGAGCGGGGATGGGGGAAGGGAGAGCAGGGATGGGGGGGAAGGAGAG CGGGGATGGGTGGGGGAAGGAGAGCGGGGATGGGGGAGGGAGAGCGGGGA TGGGGGAAGGGAGAGCAGGGATGGGGGGGAAGGAGAGCGGGGATGGGTGG GGGAAGGAGAGCGGGGATGGGGGAAGGGAGAGCAGGGATGGGGGGGAAGG AGAGCGGGGATGGGTGGGGGAAGGAGAGCGGGGATGGGGGAGGGAGAGCG GGGATGGGGGAAGGGAGAGCAAGGATGGGGGGGGAAGGAGAGTGGGGATG GGTGGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	368	0.0027	309	c.23 others(320): Show c.2391_*2392insTTCCCCCACCCATCCCCACTCTCCTTCCCCCCCC ATCCTTGCTCTCCCTTCCCCCATCCCCGCTCTCCCTCCCCCATCCCCGCT CTCCTTCCCCCACCCATCCCCGCTCTCCTTCCCCCCCATCCCTGCTCTCC CTTCCCCCATCCCCGCTCTCCTTCCCCCACCCATCCCCGCTCTCCTTCCC CCCCATCCCTGCTCTCCCTTCCCCCATCCCCGCTCTCCCTCCCCCATCCC CGCTCTCCTTCCCCCACCCATCCCCGCTCTCCTTCCCCCCCATCCCTGCT CTCCCTTCCCCCATCCCCGCTCTCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1345		chr20	TogoVar
HSD17B3_chr9_96230306_96307176	96301414	T T	TAAAAATA others(302): Show TAAAAATACAAAACGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	374	0.0027	309	c.154 others(324): Show c.154+536_154+537insTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCCGTTTTGTATTTTT	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	1/10			chr9	TogoVar
HYDIN_chr16_70797084_71235722	71097447	T T	TAAAAAAC others(302): Show TAAAAAACAGACTCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATTACGAGGTCAGGAGATCGAGACCA TCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02602.hp1 HG04199.hp1 others(1): Show HG01928.hp2 HG02602.hp1 HG04199.hp1 NA19090.hp1	a0004 a0018 a0020 others(1): Show a0004 a0018 a0020 a0021	a0004c0032 a0018c0029 a0020c0030 others(1): Show a0004c0032 a0018c0029 a0020c0030 a0021c0025	a0004c0032t0021 a0018c0029t0001 a0020c0030t0001 others(1): Show a0004c0032t0021 a0018c0029t0001 a0020c0030t0001 a0021c0025t0001	a0004c0032t0021g0062 a0018c0029t0001g0047 a0020c0030t0001g0059 others(1): Show a0004c0032t0021g0062 a0018c0029t0001g0047 a0020c0030t0001g0059 a0021c0025t0001g0060	4	174	0.0230	309	c.132 others(328): Show c.1328-3513_1328-3512insTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTAATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCAGAGTCTGTTTTTT	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	10/85			chr16	TogoVar
ICAM3_chr19_10328776_10344624	10337272	C C	CTGGGTGT others(302): Show CTGGGTGTGGTAGTGCACACCTGTAGTCCCAGCTACTCAGCAGGCTGAGG CAGGAGAATCTCTTGAACTTGGGAGGTGGAGGTTGCAGTGAGCAAGATCA TGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCCAAAAA AAAAAAAAGAAGAAGAAGAAGAAAAGGCAGGTGCAGTGGCTCACGCCTGT AATCCCAACACTTTAGGAGGCGGAGGCAGGCAGATCATGAGGTCAGAAGT TCGAGACCAGCTTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATAC AAAAATTAGT	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0086 a0002c0004t0001g0086	1	440	0.0023	309	c.344 others(326): Show c.344-1297_344-1296insACTAATTTTTGTATTTTTAGTAGAGACA GGGTTTCACCATGTTGGTCAAGCTGGTCTCGAACTTCTGACCTCATGATC TGCCTGCCTCCGCCTCCTAAAGTGTTGGGATTACAGGCGTGAGCCACTGC ACCTGCCTTTTCTTCTTCTTCTTCTTTTTTTTTTTTTGGAGATGGAGTCT CACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTTGCTCACTGCAA CCTCCACCTCCCAAGTTCAAGAGATTCTCCTGCCTCAGCCTGCTGAGTAG CTGGGACTACAGGTGTGCACTACCACACCCA	ICAM3	ENSG00000076662.11	transcript	ENST00000160262.10	protein_coding	2/6			chr19	TogoVar
IFITM5_chr11_293200_304526	302085	C C	CAAAAAAA others(302): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCCAGGCGAGGTGGCTCACG CCTGTAGTCTCAGCACTTTGGGAGGCCGAGGCGGGTGAATCATGAGGTCA GGAGTTCGTGACCACCCTGACCAACATGGTGAAACCCCATCTCTACTAAA AATACAAAAATTAGCCAGGCGTGGTGGTGGGTGCCTGAAATTCCAGCTAC TCAGGAGGCTGAGGCATGAGAATCACTTGAACCCAGGAGGCGGAGGTTGC GGTGAACCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAA ACTCCATCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	434	0.0023	309	c.-25 others(320): Show c.-2596_-2595insGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGA GTGCAATGGCGCGATCTCGGTTCACCGCAACCTCCGCCTCCTGGGTTCAA GTGATTCTCATGCCTCAGCCTCCTGAGTAGCTGGAATTTCAGGCACCCAC CACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCA TGTTGGTCAGGGTGGTCACGAACTCCTGACCTCATGATTCACCCGCCTCG GCCTCCCAAAGTGCTGAGACTACAGGCGTGAGCCACCTCGCCTGGCCCTT TTTTTTTTTTTTTTTTTTTTTTTTT	IFITM5	ENSG00000206013.2	transcript	ENST00000382614.2	protein_coding		2560		chr11	TogoVar
IL18R1_chr2_102350796_102403776	102352768	T T	TATAATAT others(302): Show TATAATATATTTTATATATTATATATTATATATAATATAATATGTATTCT ATATATTATATTATATAAAATATAGTATATAATATATAATATAATATATA ATATATAATACAATATATAATATAATATATAATATAAAATATATAATATA ATATATAATATATAATATAATATATAATGTATAATATATAATATAATATA TAATATATAATATATAATGTATAATAACATTATATATTATATATTATACA TATATTATATGTAATATATAATATATAATATATAATATATATTATGTATA ATATATATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0056 a0001c0001t0005g0056	1	366	0.0027	309	c.-36 others(320): Show c.-3661_-3660insATAATATATTTTATATATTATATATTATATATAA TATAATATGTATTCTATATATTATATTATATAAAATATAGTATATAATAT ATAATATAATATATAATATATAATACAATATATAATATAATATATAATAT AAAATATATAATATAATATATAATATATAATATAATATATAATGTATAAT ATATAATATAATATATAATATATAATATATAATGTATAATAACATTATAT ATTATATATTATACATATATTATATGTAATATATAATATATAATATATAA TATATATTATGTATAATATATATTA	IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding		3027		chr2	TogoVar
IL9R_chrX_155992696_156015817	156009241	G G	GTGTGTCT others(302): Show GTGTGTCTGTGTGTGTGTTTGTGTGTGTATGTCTGTGTGTGTGTGTTTAT GTGTGTGTGTCTGTGTGTGTTTATGTCTGTGTGTGTTTGTGTGTGTGTCT CTGTGTGTGTGTCTGTATCTGTGTGTGTTTGTGTCTGTGTGTGTTTGTGT GTGTGTCTGTGTGTGTTTGTGTGTGTGTGTCTGTGTGTGTGTTTGTGTCT CTGTATGTTTGTGTGTGTGTTTGTGTGTGTGTGTTTGTGTTTATGTGTGT ATGTCTGTGTGTGTCTGTGTGTCTGTGTGTGTATGTGTCTGTGTGTGTTT ATGTGTCTGT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0099 a0006c0010t0001g0099	1	220	0.0046	309	c.973 others(324): Show c.973-575_973-574insTGTGTCTGTGTGTGTGTTTGTGTGTGTATG TCTGTGTGTGTGTGTTTATGTGTGTGTGTCTGTGTGTGTTTATGTCTGTG TGTGTTTGTGTGTGTGTCTCTGTGTGTGTGTCTGTATCTGTGTGTGTTTG TGTCTGTGTGTGTTTGTGTGTGTGTCTGTGTGTGTTTGTGTGTGTGTGTC TGTGTGTGTGTTTGTGTCTCTGTATGTTTGTGTGTGTGTTTGTGTGTGTG TGTTTGTGTTTATGTGTGTATGTCTGTGTGTGTCTGTGTGTCTGTGTGTG TATGTGTCTGTGTGTGTTTATGTGTCTGT	IL9R	ENSG00000124334.18	transcript	ENST00000244174.11	protein_coding	8/8			chrX	TogoVar
INO80_chr15_40973880_41121280	41031612	A A	AGGAAGGG others(302): Show AGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAG GGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGG AGGAAGGGAGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAG GAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGGAAAGGAGGA AGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGAAGGGAG GAAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGAAAGGGAGGAAGGGAGGA AGGGAGGAAG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0078 a0001c0002t0004g0078	1	282	0.0036	309	c.290 others(328): Show c.2908-3877_2908-3876insCTTCCTCCCTTCCTCCCTTCCTCCCT TTCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCC CTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCTTTCCTCCCT TCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCC CTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCC CTTCCTCCCTTCCTCCCTTCCTCCCTCCCTTCC	INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35			chr15	TogoVar
INTU_chr4_127627957_127731737	127682039	C C	CAAAACCA others(302): Show CAAAACCACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0138 a0001c0001t0027g0138	1	358	0.0028	309	c.118 others(328): Show c.1182-2361_1182-2360insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAACCACA	INTU	ENSG00000164066.13	transcript	ENST00000335251.11	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
IRAG2_chr12_25047706_25113335	25077266	A A	AATATATA others(302): Show AATATATATATCATATATATATGAAATATATATATGATATATATATGAAA TATATATATCATATATATATGAAATATATATATGATATATATATGAAATA TATATATCATATATATATGAAATATATATATGATATATGAAATATATATA TGATATATGAAATATATATATGATATATGAAATATATATATGATATATGA AATATATATATGATATATATATGAAATATATATATGATATATATATGAAA TATATATATGATATATATATGAAATATATATATGATATATATATGAAATA TATATATGAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	344	0.0029	309	c.25- others(324): Show c.25-1970_25-1969insATCATATATATATGAAATATATATATGATA TATATATGAAATATATATATCATATATATATGAAATATATATATGATATA TATATGAAATATATATATCATATATATATGAAATATATATATGATATATG AAATATATATATGATATATGAAATATATATATGATATATGAAATATATAT ATGATATATGAAATATATATATGATATATATATGAAATATATATATGATA TATATATGAAATATATATATGATATATATATGAAATATATATATGATATA TATATGAAATATATATATGATATATATAT	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
IRAG2_chr12_25047706_25113335	25077266	A A	AATATATA others(302): Show AATATATATATCATATATATATGAAATATATATATGATATATATATGAAA TATATATATCATATATATATGAAATATATATATGATATATGAAATATATA TATGATATATGAAATATATATATGATATATGAAATATATATATGATATAT GAAATATATATATGATATATATATGAAATATATATATGATATATATATGA AATATATATATGATATATATATGAAATATATATATGATATATATATGAAA TATATATATGATATATATATGAAATATATATATGATATATATATGAAATA TATATATGAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG06807.hp2 NA19085.hp1 HG02040.hp1 HG06807.hp2 NA19085.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0003 a0001c0001t0001 a0002c0002t0001 a0003c0003t0003	a0001c0001t0001g0306 a0002c0002t0001g0235 a0003c0003t0003g0158 a0001c0001t0001g0306 a0002c0002t0001g0235 a0003c0003t0003g0158	3	344	0.0087	309	c.25- others(324): Show c.25-1970_25-1969insATCATATATATATGAAATATATATATGATA TATATATGAAATATATATATCATATATATATGAAATATATATATGATATA TGAAATATATATATGATATATGAAATATATATATGATATATGAAATATAT ATATGATATATGAAATATATATATGATATATATATGAAATATATATATGA TATATATATGAAATATATATATGATATATATATGAAATATATATATGATA TATATATGAAATATATATATGATATATATATGAAATATATATATGATATA TATATGAAATATATATATGATATATATAT	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
ITLN2_chr1_160940025_160959809	160956292	T T	TGGCCAAC others(302): Show TGGCCAACTGTGTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCGGGAGCGCTGTGGCGCGATCTCCGCT CACTGCAAGCTCCGCCCTCCGGGTCCACGCCATTCTCCCGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0057 a0003c0003t0002g0057	1	480	0.0021	309	c.-15 others(320): Show c.-1552_-1551insGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCACGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGTGGC GGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATGGCGT GGACCCGGAGGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCGCTC CCGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAACACACAGTTGGCC	ITLN2	ENSG00000158764.7	transcript	ENST00000368029.4	protein_coding		1484		chr1	TogoVar
KCNAB1_chr3_156115578_156543605	156522084	T T	TACAAGAT others(302): Show TACAAGATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCACCCGGCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02630.hp1 HG01891.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0010 a0001c0002t0007g0111 a0001c0002t0007g0010 a0001c0002t0007g0111	2	124	0.0161	309	c.961 others(326): Show c.961-1734_961-1733insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCACCCGGCCACAAGATTT	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNAB1_chr3_156115578_156543605	156522084	T T	TACAAGAT others(302): Show TACAAGATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp1 HG01106.hp1 others(22): Show HG01069.hp1 HG01070.hp1 HG01106.hp1 HG01258.hp2 HG01261.hp1 HG02027.hp1 HG02055.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp2 HG02257.hp2 HG02559.hp2 HG02630.hp2 HG02735.hp1 HG02738.hp1 HG02896.hp1 HG03209.hp1 HG03471.hp2 HG03492.hp2 HG03834.hp2 NA18942.hp1 NA18954.hp2 NA20129.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0001c0010 a0003c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0002t0002 a0001c0002t0008 a0001c0007t0009 a0001c0010t0001 a0003c0005t0001	a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0025 others(22): Show a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0058 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0005g0110 a0001c0001t0009g0086 a0001c0002t0002g0122 a0001c0002t0008g0001 a0001c0007t0009g0119 a0001c0010t0001g0017 a0003c0005t0001g0052	25	124	0.2016	309	c.961 others(326): Show c.961-1734_961-1733insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCACAAGATTT	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar

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Search Results (Total: 10000 hits)