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
FAM120B_chr6_170301758_170412067	170399483	A A	AGAAAGGT others(303): Show AGAAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGGGGAAGGTAGA ACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATA ACTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAGTG AGTGAGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGG TAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGT CATAACTCTTAGGAGTGAGTTGGGAAGGTAGAACTATGTCATAACTCTTA GAAGTGAGTGG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0217 a0001c0001t0005g0217	1	289	0.0035	310	c.269 others(329): Show c.2692+3927_2692+3928insCCTTAGGAGTGAGTGGGGAAGGTAGA ACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATA ACTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAGTG AGTGAGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGG TAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGT CATAACTCTTAGGAGTGAGTTGGGAAGGTAGAACTATGTCATAACTCTTA GAAGTGAGTGGGAAAGGTAGAACTATGTCATAAC	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM120B_chr6_170301758_170412067	170399483	A A	AGAAAGGT others(303): Show AGAAAGGTAGAACTATGTCATAACCCTTAGGAGTGAGTGGGGAAGGTAGA ACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATA ACTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAGTG AGTGAGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGCGTGGGGAAGG TAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGT CATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTA GAAGTGAGTGG	intron_variant intron_variant	MODIFIER	HG01167.hp2 NA18949.hp2 HG01167.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0260 a0001c0006t0001g0246 a0001c0001t0001g0260 a0001c0006t0001g0246	2	289	0.0069	310	c.269 others(329): Show c.2692+3927_2692+3928insCCTTAGGAGTGAGTGGGGAAGGTAGA ACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATA ACTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAGTG AGTGAGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGCGTGGGGAAGG TAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTATGT CATAACTCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTA GAAGTGAGTGGGAAAGGTAGAACTATGTCATAAC	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FASTKD3_chr5_7854159_7874031	7864812	G G	GAAAAAAA others(303): Show GAAAAAAAATCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02572.hp1 HG02630.hp1 others(2): Show HG02486.hp1 HG02572.hp1 HG02630.hp1 HG02970.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0070 a0001c0001t0003g0018 a0001c0001t0003g0070	5	462	0.0108	310	c.152 others(329): Show c.1524+1085_1524+1086insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGATTTTTTTT	FASTKD3	ENSG00000124279.12	transcript	ENST00000264669.10	protein_coding	3/6			chr5	TogoVar
FASTKD3_chr5_7854159_7874031	7864812	G G	GAAAAAAA others(303): Show GAAAAAAAATCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0069	1	462	0.0022	310	c.152 others(329): Show c.1524+1085_1524+1086insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGATTTTTTTT	FASTKD3	ENSG00000124279.12	transcript	ENST00000264669.10	protein_coding	3/6			chr5	TogoVar
FBRSL1_chr12_132485151_132590188	132576199	T T	TTTTTTTT others(303): Show TTTTTTTTTCTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCAGCC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0000 a0000	a0000c0062 a0000c0062	a0000c0062t0055 a0000c0062t0055	a0000c0062t0055g0142 a0000c0062t0055g0142	1	348	0.0029	310	c.170 others(327): Show c.1702-589_1702-588insTTTTTTTTTTTTTTCTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACC ACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCAGCCTTTTTTTTCTT	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBRSL1_chr12_132485151_132590188	132576199	T T	TTTTTTTT others(303): Show TTTTTTTTTCTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCAGCC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0102 a0001c0005t0006g0102	1	348	0.0029	310	c.170 others(327): Show c.1702-589_1702-588insTTTTTTTTTTTTTTTCTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACC ACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCAGCCTTTTTTTTCTT	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBXO34_chr14_55266421_55358611	55329134	T T	TTAAAACG others(303): Show TTAAAACGTGGTTTATTTCTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(23): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00673.hp2 HG01069.hp1 HG01071.hp1 HG01433.hp1 HG01517.hp1 HG02071.hp1 HG02135.hp1 HG03490.hp2 HG03491.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG04184.hp1 NA18939.hp1 NA18941.hp2 NA18970.hp1 NA18983.hp1 NA18993.hp1 NA19060.hp1 NA19062.hp2 NA19079.hp2 NA20752.hp1	a0002 a0002	a0002c0002 a0002c0010 a0002c0002 a0002c0010	a0002c0002t0002 a0002c0002t0003 a0002c0002t0011 others(1): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0011 a0002c0010t0003	a0002c0002t0002g0011 a0002c0002t0003g0034 a0002c0002t0003g0035 others(23): Show a0002c0002t0002g0011 a0002c0002t0003g0034 a0002c0002t0003g0035 a0002c0002t0003g0037 a0002c0002t0003g0041 a0002c0002t0003g0043 a0002c0002t0003g0044 a0002c0002t0003g0045 a0002c0002t0003g0046 a0002c0002t0003g0050 a0002c0002t0003g0078 a0002c0002t0003g0079 a0002c0002t0003g0084 a0002c0002t0003g0087 a0002c0002t0003g0088 a0002c0002t0003g0089 a0002c0002t0003g0090 a0002c0002t0003g0092 a0002c0002t0003g0095 a0002c0002t0003g0097 a0002c0002t0003g0099 a0002c0002t0003g0101 a0002c0002t0003g0106 a0002c0002t0011g0094 a0002c0010t0003g0042 a0002c0010t0003g0086	26	334	0.0778	310	c.-10 others(329): Show c.-10-21228_-10-21227insTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTAAAACGTGGTTTATTTCT	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO34_chr14_55266421_55358611	55329134	T T	TTAAAACG others(303): Show TTAAAACGTGGTTTATTTCTTTTTTTTTTTGAGATGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0083 a0002c0002t0003g0083	1	334	0.0030	310	c.-10 others(329): Show c.-10-21228_-10-21227insTTTTTTTTTTGAGATGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTAAAACGTGGTTTATTTCT	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FER1L5_chr2_96637764_96709883	96659350	C C	CTTTCTTT others(303): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0167 a0002c0001t0001g0167	1	226	0.0044	310	c.748 others(325): Show c.748-989_748-988insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52		INFO_REALIGN_3_PRIME	chr2	TogoVar
FIG4_chr6_109686296_109830426	109781773	C C	CAGATTTT others(303): Show CAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCA GTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCG CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCT CCCAAAGTGCT	intron_variant intron_variant	MODIFIER	HG01071.hp1 NA19075.hp2 HG01071.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0267 a0001c0001t0003g0187 a0001c0001t0002g0267 a0001c0001t0003g0187	2	370	0.0054	310	c.189 others(329): Show c.1890-3191_1890-3190insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCT TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCACCCGCCTCGGCCTCCCAAAGTGCTAGATTT	FIG4	ENSG00000112367.12	transcript	ENST00000230124.8	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
FLT4_chr5_180596506_180654600	180615696	T T	TTCTCCAC others(303): Show TTCTCCACTTCCTTTTGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTC CACTTCCTTTTGGAGCACTGGGGCCTGCCGTCACCTCCCTTCTCCACTTC CGAAATCCACTGTCTTTCGGAGCACTGGGGCCCCGCCGGTCACCTCCCTT CTCCACTTCCGAAATCCACTTCCTTTTGGAGCACTGGGCCCCGCTGGTCA CCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTTGGAGCACTGGGCCCC GCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAACACTGTGGCCCCGCTG GTCAACTCCCA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0061 a0002c0002t0001g0061	1	388	0.0026	310	c.321 others(327): Show c.3219+670_3219+671insTGGGAGTTGACCAGCGGGGCCACAGTGT TCCGAAAGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAGTGCTCCAA AAGGAAGTGGATTTCGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAG TGCTCCAAAAGGAAGTGGATTTCGGAAGTGGAGAAGGGAGGTGACCGGCG GGGCCCCAGTGCTCCGAAAGACAGTGGATTTCGGAAGTGGAGAAGGGAGG TGACGGCAGGCCCCAGTGCTCCAAAAGGAAGTGGAGAAGGGAGGTGACCA GCGGGGCCCAGTGCTCCAAAAGGAAGTGGAGA	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FOXP1_chr3_70949708_71588728	71396963	T T	TACACACA others(303): Show TACACACATATATATGTGTGTATATATATATATACACATATATATGTGTG TGTATATATATATACACATATATATATGTATATATATATACATATATATG TGTATATATATATACATATATATATGTGTATATATATATATACACACATA TATATATGTGTATATATATATACACATATATATGTGTATATATATACATA TATATGTGTATATATATACACATATATATATGTGTATATATATACATATA TATGTGTATATACATATACATATATGTGTATATACATATACATATATATA TGTGTATATAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA20129.hp1 HG02647.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0021 a0001c0001t0004 a0001c0001t0021	a0001c0001t0004g0056 a0001c0001t0021g0042 a0001c0001t0004g0056 a0001c0001t0021g0042	2	96	0.0208	310	c.-16 others(331): Show c.-167-37720_-167-37719insGTATATACACATATATATATGTAT ATGTATATACACATATATGTATATGTATATACACATATATATGTATATAT ATACACATATATATATGTGTATATATATACACATATATATGTATATATAT ACACATATATATGTGTATATATATATACACATATATATATGTGTGTATAT ATATATATACACATATATATATGTATATATATATACACATATATATGTAT ATATATATACATATATATATGTGTATATATATATACACACACATATATAT GTGTATATATATATATACACACATATATATGTGTGT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FRAS1_chr4_78052323_78549269	78368280	T T	TTCTAATG others(303): Show TTCTAATGAATGTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCACCCAGGCTGGAGTACAGTGGCGCAGCCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCCGAGT AGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTTTA TTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTG ATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA19043.hp1 HG02647.hp1 NA19043.hp1	a0065 a0096 a0065 a0096	a0065c0079 a0096c0066 a0065c0079 a0096c0066	a0065c0079t0007 a0096c0066t0027 a0065c0079t0007 a0096c0066t0027	a0065c0079t0007g0167 a0096c0066t0027g0152 a0065c0079t0007g0167 a0096c0066t0027g0152	2	178	0.0112	310	c.272 others(329): Show c.2723-1543_2723-1542insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCGCAGCCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTT TTTTTTTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTG ACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCG TGAGCCACCGCGCCCGGCCTCTAATGAATGTTTT	FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	22/73		INFO_REALIGN_3_PRIME	chr4	TogoVar
GABRA3_chrX_152161234_152456315	152182653	C C	CACTATAT others(303): Show CACTATATATGTATATATAGTGTATATATACATATATAGGTATAGTGTAT ATATACACTATATATACACTATATATGTATAGTATATATACACTATATAT AGTATATATACACTATATATAGTATATATACACTATATATATAGTATATA TACACTATATATATAGTATATATACACTATATATATAGTATATATACACT ATATATACACTATATATGTATATATATACATATATAGTGTATATATAGTG TATATATACACTGTATATGTATATATAGTGTATATATACACTATATATAC ACTGTATATGT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02080.hp2 HG02132.hp1 others(10): Show HG02027.hp1 HG02080.hp2 HG02132.hp1 HG02523.hp1 NA18939.hp2 NA18948.hp1 NA18951.hp1 NA18966.hp1 NA18971.hp1 NA18986.hp1 NA18998.hp2 NA19010.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0016	a0001c0001t0001g0119 a0001c0001t0002g0011 a0001c0001t0002g0012 others(10): Show a0001c0001t0001g0119 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0004g0028 a0001c0001t0004g0031 a0001c0001t0004g0040 a0001c0001t0004g0042 a0001c0001t0004g0060 a0001c0001t0016g0173	13	204	0.0637	310	c.114 others(329): Show c.1143+7076_1143+7077insACATATACAGTGTATATATAGTGTAT ATATACACTATATATACATATACAGTGTATATATACACTATATATACACT ATATATGTATATATATACATATATAGTGTATATATAGTGTATATATACTA TATATATAGTGTATATATACTATATATATAGTGTATATATACTATATATA TAGTGTATATATACTATATATAGTGTATATATACTATATATAGTGTATAT ATACTATACATATATAGTGTATATATAGTGTATATATACACTATACCTAT ATATGTATATATACACTATATATACATATATAGT	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GABRA3_chrX_152161234_152456315	152182653	C C	CACTATAT others(303): Show CACTATATATGTATATATAGTGTATATATACATATATAGGTATAGTGTAT ATATACACTATATATACACTATATATGTATAGTATATATACACTATATAT AGTATATATACACTATATATAGTATATATACACTATATATATAGTATATA TACACTATATATATAGTATATATACACTATATATATAGTATATATACACT GTATATACACTATATATGTATATATATACATATATAGTGTATATATAGTG TATATATACACTGTATATGTATATATAGTGTATATATACACTATATATAC ACTGTATATGT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0008	1	204	0.0049	310	c.114 others(329): Show c.1143+7076_1143+7077insACATATACAGTGTATATATAGTGTAT ATATACACTATATATACATATACAGTGTATATATACACTATATATACACT ATATATGTATATATATACATATATAGTGTATATACAGTGTATATATACTA TATATATAGTGTATATATACTATATATATAGTGTATATATACTATATATA TAGTGTATATATACTATATATAGTGTATATATACTATATATAGTGTATAT ATACTATACATATATAGTGTATATATAGTGTATATATACACTATACCTAT ATATGTATATATACACTATATATACATATATAGT	GABRA3	ENSG00000011677.13	transcript	ENST00000370314.9	protein_coding	9/9			chrX	TogoVar
GABRB3_chr15_26538552_26778066	26627365	T T	TCAAGTTT others(303): Show TCAAGTTTTTTTTTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18969.hp1 NA19056.hp1 others(1): Show NA18968.hp2 NA18969.hp1 NA19056.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0104 a0001c0001t0002g0105 others(1): Show a0001c0001t0002g0055 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0153	4	204	0.0196	310	c.241 others(327): Show c.241-5832_241-5831insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAGAAAAAAAAACTTG	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GAL3ST2_chr2_241771822_241809287	241805379	G G	GCCCAGGA others(303): Show GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCTCCTCAACCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCTCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCT CCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCCTCCCTCCCTCCTCAACCCAGGGACCTCCGCAG GCCACCCTCCCTCCCTCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCC TCCCTCCTCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	314	0.0032	310	c.12 others(321): Show c.1213_*1214insCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCTC CTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCTCCTCAACCCAGGGACCTCCGCAGG CCACCCTCCCTCCCTCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCT CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCTCAACC CAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCTCAACCCAGGGACCTCC GCAGGCCACCCTCCCTCCCTCCTCAA	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1093		chr2	TogoVar
GANC_chr15_42268201_42358666	42341093	T T	TAAAAAGT others(303): Show TAAAAAGTGTAATTATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTACACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02572.hp1 HG02717.hp1 others(6): Show HG02486.hp2 HG02572.hp1 HG02717.hp1 HG03098.hp1 HG03195.hp1 HG03579.hp1 NA18906.hp1 NA20129.hp1 NA21309.hp2	a0003 a0003	a0003c0008 a0003c0013 a0003c0008 a0003c0013	a0003c0008t0006 a0003c0008t0013 a0003c0013t0006 a0003c0008t0006 a0003c0008t0013 a0003c0013t0006	a0003c0008t0006g0133 a0003c0008t0006g0134 a0003c0008t0006g0137 others(6): Show a0003c0008t0006g0133 a0003c0008t0006g0134 a0003c0008t0006g0137 a0003c0008t0013g0132 a0003c0008t0013g0135 a0003c0008t0013g0136 a0003c0013t0006g0010 a0003c0013t0006g0130 a0003c0013t0006g0131	9	262	0.0344	310	c.215 others(327): Show c.2152+353_2152+354insTGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCGCGCCACTACACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAGTGTAATTA	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(303): Show TAAATTTTATCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG01070.hp2 others(27): Show HG00558.hp1 HG00558.hp2 HG01070.hp2 HG01175.hp1 HG01258.hp1 HG01361.hp2 HG01943.hp2 HG01975.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02280.hp1 HG02735.hp1 HG02735.hp2 HG03239.hp2 HG03669.hp1 HG03834.hp2 NA18969.hp2 NA18977.hp1 NA18984.hp1 NA18999.hp1 NA19000.hp1 NA19011.hp1 NA19057.hp1 NA19065.hp2 NA19081.hp2 NA19088.hp1 NA19089.hp2 NA20129.hp2 NA20300.hp1	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0005c0010 a0007c0007 a0001c0001 a0005c0010 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0005c0010t0001 a0007c0007t0002	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0002g0016 others(4): Show a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0002g0016 a0001c0001t0005g0001 a0001c0001t0006g0001 a0005c0010t0001g0026 a0007c0007t0002g0001	30	424	0.0708	310	c.-32 others(321): Show c.-3260_-3259insAAATTTTATCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAA	GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding		3044		chr10	TogoVar
GET4_chr7_871554_901436	889893	T T	TAGGACGG others(303): Show TAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGT CTGGGAGTGGAGGGAGCGTGAGCGGGTGTTAGGACGGGGTCTGGGAGTGG AGGGAGCGCGAGCGGGTGTTAGGACGGGGCCTGGGAGTGGCGAGCGGGTG TTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGG GTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTCAGGACGGGGTCTGGGAGT GGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0126 a0001c0019t0001g0126	1	384	0.0026	310	c.467 others(327): Show c.467-1027_467-1026insTCTGGGAGTGGAGGGAGCGCGAGCGGGT GTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTTAGGACGG GGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGCCTGGGAG TGGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGA GTGGAGGGAGCGCGAGCGGGTGTCAGGACGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GJB3_chr1_34776214_34791364	34777656	T T	TCATCACA others(303): Show TCATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCACCC CAGCCACCTCCATCATCACACACATTCACAACCACACATGCACACAGCCT CCCACACCACCCCAGCCATCTCCACCATCACACACATTCACAACCACACA TGCACACAGCCTCCCACACCACCCCAGCCATCTCCACCATCACACACATT CACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCACCTCCACC ATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCACCCCA GCCACCTCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0009 a0001c0001t0006g0009	1	444	0.0023	310	c.-41 others(321): Show c.-4148_-4147insCATCACACACATTCACAACCACACATGCACACAG CCTCCCACACCACCCCAGCCACCTCCATCATCACACACATTCACAACCAC ACATGCACACAGCCTCCCACACCACCCCAGCCATCTCCACCATCACACAC ATTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCATCTCC ACCATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCACC CCAGCCACCTCCACCATCACACACATTCACAACCACACATGCACACAGCC TCCCACACCACCCCAGCCACCTCCAC	GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding		3557		chr1	TogoVar
GJB3_chr1_34776214_34791364	34777717	A A	ATCATCAC others(303): Show ATCATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCACC CCAGCCATCTCCACCATCACACACATTCACAACCACACATGCACACAGCC TCCCACACCACCCCAGCCATCTCCACCATCACACACATTCACAACCACAC ATGCACACAGCCTCCCACACCACCCCAGCCACCTCCACCATCACACACAT TCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCATCTCCGC CATCACACACGTTCACAACCACACATGCACACAGCCTCCCACACCACCCC AGCCATCTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01361.hp1 HG02083.hp2 others(1): Show HG00323.hp2 HG01361.hp1 HG02083.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	4	444	0.0090	310	c.-40 others(321): Show c.-4087_-4086insTCATCACACACATTCACAACCACACATGCACACA GCCTCCCACACCACCCCAGCCATCTCCACCATCACACACATTCACAACCA CACATGCACACAGCCTCCCACACCACCCCAGCCATCTCCACCATCACACA CATTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCACCTC CACCATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCAC CCCAGCCATCTCCGCCATCACACACGTTCACAACCACACATGCACACAGC CTCCCACACCACCCCAGCCATCTCCG	GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding		3496		chr1	TogoVar
GJB3_chr1_34776214_34791364	34777717	A A	ATCATCAC others(303): Show ATCATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCACC CCAGCCATCTCCACCATCACACACATTCACAACCACACATGCACACAGCC TCCCACACCACCCCAGCCATCTCCGCCATCACACACGTTCACAACCACAC ATGCACACAGCCTCCCACACCACCCCAGCCACCTCCATCATCACACACAT TCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCATCTCCAC CATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCACCCC AGCCATCTCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG03579.hp1 HG02055.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	2	444	0.0045	310	c.-40 others(321): Show c.-4087_-4086insTCATCACACACATTCACAACCACACATGCACACA GCCTCCCACACCACCCCAGCCATCTCCACCATCACACACATTCACAACCA CACATGCACACAGCCTCCCACACCACCCCAGCCATCTCCGCCATCACACA CGTTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCACCTC CATCATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCAC CCCAGCCATCTCCACCATCACACACATTCACAACCACACATGCACACAGC CTCCCACACCACCCCAGCCATCTCCG	GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding		3496		chr1	TogoVar
GJB3_chr1_34776214_34791364	34777729	A A	ATTCACAA others(303): Show ATTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCACCTCC ACCATCACACACATTCACAACCACACATGCACACAGCCTCCCACACCACC CCAGCCATCTCCGCCATCACACACGTTCACAACCACACATGCACACAGCC TCCCACACCACCCCAGCCACCTCCGCCATCACACACGTTCACAACCACAC ATGCACACAGCCTCCCACACCACCCCAGCCATCTCTGCCATCACACACGT TCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCATCTCTGC CATCACACACG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	444	0.0023	310	c.-40 others(321): Show c.-4075_-4074insTTCACAACCACACATGCACACAGCCTCCCACACC ACCCCAGCCACCTCCACCATCACACACATTCACAACCACACATGCACACA GCCTCCCACACCACCCCAGCCATCTCCGCCATCACACACGTTCACAACCA CACATGCACACAGCCTCCCACACCACCCCAGCCACCTCCGCCATCACACA CGTTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCATCTC TGCCATCACACACGTTCACAACCACACATGCACACAGCCTCCCACACCAC CCCAGCCATCTCTGCCATCACACACG	GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding		3484		chr1	TogoVar
GJB3_chr1_34776214_34791364	34777729	A A	ATTCACAA others(303): Show ATTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCATCTCC GCCATCACACACGTTCACAACCACACATGCACACAGCCTCCCACACCACC CCAGCCACCTCCGCCATCACACACGTTCACAACCACACATGCACACAGCC TCCCACACCACCCCAGCCATCTCTGCCATCACACACGTTCACAACCACAC ATGCACACAGCCTCCCACACCACCCCAGCCATCTCTGCCATCACACACGT TCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCATCTCTGC CATCACACACG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	444	0.0023	310	c.-40 others(321): Show c.-4075_-4074insTTCACAACCACACATGCACACAGCCTCCCACACC ACCCCAGCCATCTCCGCCATCACACACGTTCACAACCACACATGCACACA GCCTCCCACACCACCCCAGCCACCTCCGCCATCACACACGTTCACAACCA CACATGCACACAGCCTCCCACACCACCCCAGCCATCTCTGCCATCACACA CGTTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCATCTC TGCCATCACACACGTTCACAACCACACATGCACACAGCCTCCCACACCAC CCCAGCCATCTCTGCCATCACACACG	GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding		3484		chr1	TogoVar
GJB3_chr1_34776214_34791364	34777774	T T	TCTCCATC others(303): Show TCTCCATCATCACACACATTCACAACCACACATGCACACAGCCTCCCACA CCACCCCAGCCATCTCCATCATCACACACATTCACAACCACACATGCACA CAGCCTCCCACACCACCCCAGCCACCTCCATCATCACACACATTCACAAC CACACATGCACACAGCCTCCCACACCACCCCAGCCATCTCCACCATCACA CACATTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCATC TCCGCCATCACACACGTTCACAACCACACATGCACACAGCCTCCCACACC ACCCCAGCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0009 a0001c0001t0006g0009	1	444	0.0023	310	c.-40 others(321): Show c.-4030_-4029insCTCCATCATCACACACATTCACAACCACACATGC ACACAGCCTCCCACACCACCCCAGCCATCTCCATCATCACACACATTCAC AACCACACATGCACACAGCCTCCCACACCACCCCAGCCACCTCCATCATC ACACACATTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCC ATCTCCACCATCACACACATTCACAACCACACATGCACACAGCCTCCCAC ACCACCCCAGCCATCTCCGCCATCACACACGTTCACAACCACACATGCAC ACAGCCTCCCACACCACCCCAGCCAC	GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding		3439		chr1	TogoVar
GJB3_chr1_34776214_34791364	34777774	T T	TCTCCGCC others(303): Show TCTCCGCCATCACACACATTCACAACCACACATGCACACAGCCTCCCACA CCACCCCAGCCACCTCCGCCATCACACACATTCACAACCACACATGCACA CAGCCTCCCACACCACCCCAGCCATCTCCGCCATCACACACATTCACAAC CACACATGCACACAGCCTCCCACACCACCCCAGCCATCTCCGCCATCACA CACATTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCACC TCCACCATCACACACATTCACAACCACACATGCACACAGCCTCCCACACC ACCCCAGCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	444	0.0023	310	c.-40 others(321): Show c.-4030_-4029insCTCCGCCATCACACACATTCACAACCACACATGC ACACAGCCTCCCACACCACCCCAGCCACCTCCGCCATCACACACATTCAC AACCACACATGCACACAGCCTCCCACACCACCCCAGCCATCTCCGCCATC ACACACATTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCC ATCTCCGCCATCACACACATTCACAACCACACATGCACACAGCCTCCCAC ACCACCCCAGCCACCTCCACCATCACACACATTCACAACCACACATGCAC ACAGCCTCCCACACCACCCCAGCCAC	GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding		3439		chr1	TogoVar
GJB3_chr1_34776214_34791364	34777774	T T	TCTCCGCC others(303): Show TCTCCGCCATCACACACATTCACAACCACACATGCACACAGCCTCCCACA CCACCCCAGCCACCTCCGCCATCACACACATTCACAACCACACATGCACA CAGCCTCCCACACCACCCCAGCCATCTCCGCCATCACACACATTCACAAC CACACATGCACACAGCCTCCCACACCACCCCAGCCATCTCCGCCATCACA CACATTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCCATC TCCACCATCACACACATTCACAACCACACATGCACACAGCCTCCCACACC ACCCCAGCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	444	0.0023	310	c.-40 others(321): Show c.-4030_-4029insCTCCGCCATCACACACATTCACAACCACACATGC ACACAGCCTCCCACACCACCCCAGCCACCTCCGCCATCACACACATTCAC AACCACACATGCACACAGCCTCCCACACCACCCCAGCCATCTCCGCCATC ACACACATTCACAACCACACATGCACACAGCCTCCCACACCACCCCAGCC ATCTCCGCCATCACACACATTCACAACCACACATGCACACAGCCTCCCAC ACCACCCCAGCCATCTCCACCATCACACACATTCACAACCACACATGCAC ACAGCCTCCCACACCACCCCAGCCAC	GJB3	ENSG00000188910.8	transcript	ENST00000373366.3	protein_coding		3439		chr1	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGAA others(303): Show GGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGG GAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGG AAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGA GGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGG GAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGA GGGAAGGGAGGGAGGGAGGGGAAGGAAGGAAGGGAGGGAGGGGAAGGAAG GGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0004 a0006c0009t0004	a0006c0009t0004g0028 a0006c0009t0004g0028	1	188	0.0053	310	c.229 others(329): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCC CTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCC CTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCT CCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTTCCCCT CCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTTC CCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGAA others(303): Show GGGAGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGGAAGG GAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGGGAGGGAGGGA GGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAA GGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGG GAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGA GGGAAGGGAGGGAGGGAGGGGAAGGAAGGAAGGGAGGGAGGGGAAGGAAG GGAGGGAGGGA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0009 a0009	a0009c0006 a0009c0006	a0009c0006t0032 a0009c0006t0032	a0009c0006t0032g0001 a0009c0006t0032g0001	1	188	0.0053	310	c.229 others(329): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCC CTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCC CTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCT CCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCC CTTCCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCC CTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGGAAGG others(303): Show GGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAA GGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGGGAGGGAGGGAGGGGGA GGGAGGGAGGGGGAGGGAGGGAGGGAGGGAGGGGGAGGGAGGGAGGGAGG GAGGGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGGAAGGAAAG GAGGGAGGGGAAGGGAGGGAGGGAGGGGAAGGAAGGGAGGGAGGGAGGGA AGGGAGGGAGGGAGGGGAAGGAAGGAAGGAAGGGAGGGAGGGGAAGGAAG GGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0003 a0003	a0003c0025 a0003c0025	a0003c0025t0051 a0003c0025t0051	a0003c0025t0051g0037 a0003c0025t0051g0037	1	188	0.0053	310	c.229 others(329): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCC CTTCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCTTTCCTTCCCCTCC CTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCCCTCCCTCCCTCCCTCCCT CCCCCTCCCTCCCTCCCTCCCTCCCCCTCCCTCCCTCCCCCTCCCTCCCT CCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCT CCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GMDS_chr6_1618806_2250605	1897977	C C	CCCTGGCC others(303): Show CCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCTCCGTTGCCAT CCTGGACACCTATCCTGGCCTCCCTTGCCATCCTGGACACCTACCCTGGC CTCCCTTGCCATCCTGGACACCTATCCTGGCCTCCCTTGCCATCCTGGAC ACCTACCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCTCCCTT GCCATCCTGGACACCTATCCTGGCCTCCGTTGCCATCCTGGACACCTATC CTGGCCTCCCTTGCCATCCTGGACACCTACCCTGGCCACCCTTGCCATCC TGGACACCTAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	166	0.0060	310	c.771 others(329): Show c.771+32125_771+32126insATAGGTGTCCAGGATGGCAAGGGTGG CCAGGGTAGGTGTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTCCAGGA TGGCAACGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGAT AGGTGTCCAGGATGGCAAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAAG GGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGGTAGGTGTC CAGGATGGCAAGGGAGGCCAGGATAGGTGTCCAGGATGGCAACGGAGGCC AGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGG	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1898101	T T	TCCTGGCC others(303): Show TCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCACCCTTGCCAT CCTGGACACCTATCCTGGCCTCCGTTGCCATCCTGGACACCTATCCTGGC CTCCCTTGCCATCCTGGACACCTATCCTGGCCACCCTTGCCATCCTGGAC ACCTACCCTGGCCTCCCTTGCCATCCTGGACACCTACCCTGGCCTCCCTT GCCATCCTGGACACCTATCCTGGCCACCCTTGCCATCCTGGACACCTATC CTGGCCACCCTTGCCATCCTGGACACCTACCCTGGCCTCCCTTGCCATCC TGGACACCTAC	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0111 a0001c0002t0002g0111	1	166	0.0060	310	c.771 others(329): Show c.771+32001_771+32002insGTAGGTGTCCAGGATGGCAAGGGAGG CCAGGGTAGGTGTCCAGGATGGCAAGGGTGGCCAGGATAGGTGTCCAGGA TGGCAAGGGTGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGGT AGGTGTCCAGGATGGCAAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAAG GGTGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTC CAGGATGGCAACGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGTGGCC AGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGG	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GNG13_chr16_793041_805734	795580	G G	GCCCTTCT others(303): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC TTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTT CTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCT CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCA ACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGCC CCGCCCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02723.hp2 HG02717.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	2	422	0.0047	310	c.31 others(321): Show c.3138_*3139insGGGAGGGGCGGGGCGGGGCGGGGCGGCACGGGGC CGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGGGGG CAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCA GCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGC CACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCA CACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACA CGGGCAGTGTGGTTGGGGGAGAAGGG	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2460		chr16	TogoVar
GPATCH3_chr1_26885488_26905467	26904035	T T	TAAATTAA others(303): Show TAAATTAAATAAATAAATAGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCG CAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCAC AGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	292	0.0034	310	c.-35 others(321): Show c.-3594_-3593insTTTATTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGCTCACTGC AAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCTATTTATTTATTTAATTT	GPATCH3	ENSG00000198746.13	transcript	ENST00000361720.10	protein_coding		3569		chr1	TogoVar
GPC6_chr13_93221807_94413020	93453550	T T	TGAGTGTT others(303): Show TGAGTGTTACAACTCTTTTTTTTTTTTTTTGAGACAGCGTCTGGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGC CTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCAAGTAGCTGGGAC TACAGGAGCCCGCCACCGCTCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATG ATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CACGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02055.hp2 HG02451.hp2 others(2): Show HG01256.hp2 HG02055.hp2 HG02451.hp2 HG04228.hp1 NA19091.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0015 a0002c0002t0033 others(1): Show a0001c0001t0001 a0001c0001t0015 a0002c0002t0033 a0003c0004t0003	a0001c0001t0001g0028 a0001c0001t0015g0036 a0002c0002t0033g0041 others(2): Show a0001c0001t0001g0028 a0001c0001t0015g0036 a0002c0002t0033g0041 a0003c0004t0003g0054 a0003c0004t0003g0058	5	76	0.0658	310	c.161 others(329): Show c.161-91697_161-91696insTTTTTTTTTTTTTGAGACAGCGTCTG GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCTCAAGTAG CTGGGACTACAGGAGCCCGCCACCGCTCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCACGCCCGGCCGAGTGTTACAACTCTT	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPHN_chr14_66503147_67186803	66683367	T T	TATATATA others(303): Show TATATATATATATATATGTTCATATATATATATGTTCATATATATATGTT CATATATATATGTTCATATATATATGTACATATATATGTTCATATATATA TGTTCATATATATATGTACATATATATGTACATATATATATGTTCATATA TATGTTCATATATATATGTTCATATATATGTTCATATATATATGTTCATA TATATATGTTCATATATATATGTTCATATATATATGTTCATATATATGTT CATATATATATATGTTCATATATATATGTTCATATATATATATGTTCATA TATATATGTTC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	234	0.0043	310	c.143 others(327): Show c.143+2194_143+2195insATATGTTCATATATATATATGTTCATAT ATATATGTTCATATATATATGTTCATATATATATGTACATATATATGTTC ATATATATATGTTCATATATATATGTACATATATATGTACATATATATAT GTTCATATATATGTTCATATATATATGTTCATATATATGTTCATATATAT ATGTTCATATATATATGTTCATATATATATGTTCATATATATATGTTCAT ATATATGTTCATATATATATATGTTCATATATATATGTTCATATATATAT ATGTTCATATATATATGTTCATATATATATAT	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPHN_chr14_66503147_67186803	66683367	T T	TATGTTCA others(303): Show TATGTTCATATATATATATGTTCATATATATATGTTCATATATATATGTT CATATATATATGTACATATATATGTTCATATATATATGTTCATATATATA TGTACATATATATGTACATATATATATGTTCATATATATGTTCATATATA TATGTTCATATATATGTTCATATATATATGTTCATATATATATGTTCATA TATATATGTTCATATATATATGTTCATATATATATGTTCATATATATGTT CATATATATATATGTTCATATATATATGTTCATATATATATATGTTCATA TATATATGTTC	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	234	0.0043	310	c.143 others(327): Show c.143+2184_143+2185insGTTCATATATATATATGTTCATATATAT ATGTTCATATATATATGTTCATATATATATGTACATATATATGTTCATAT ATATATGTTCATATATATATGTACATATATATGTACATATATATATGTTC ATATATATGTTCATATATATATGTTCATATATATGTTCATATATATATGT TCATATATATATGTTCATATATATATGTTCATATATATATGTTCATATAT ATATGTTCATATATATGTTCATATATATATATGTTCATATATATATGTTC ATATATATATATGTTCATATATATATGTTCAT	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPR161_chr1_168074542_168141930	168110204	T T	TAATAGAA others(303): Show TAATAGAAAAAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0026 a0001c0002t0006g0026	1	340	0.0029	310	c.-44 others(327): Show c.-44-5311_-44-5310insTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCTATTTTTTCTATT	GPR161	ENSG00000143147.15	transcript	ENST00000682931.1	protein_coding	1/5			chr1	TogoVar
GPR173_chrX_53043789_53085615	53074404	T T	TTATATTT others(303): Show TTATATTTATTTATAAATAAATATATATTAATATATATTTATATTTATTT ATAAATAAATATATATAAATATATATAAATATATATTTATATTTATTTAT AAATATATATAAATATATATAAATATATATATATTTATTTATATTTATTT ATAAATAAATATATAAATATATATATATTTATTTATATATAAATATATAT AAATCTATATTTATAGTTATTTATATATAAATATATAAATATATATATAA ATAACTATAAATATAGATTTATATATATTTATATATAAATAACTATAAAT ATAGATTTATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03130.hp1 HG02976.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0030 a0001c0001t0017 a0001c0001t0030	a0001c0001t0017g0197 a0001c0001t0030g0063 a0001c0001t0017g0197 a0001c0001t0030g0063	2	208	0.0096	310	c.-97 others(327): Show c.-97-2112_-97-2111insTTATAAATAAATATATATTAATATATAT TTATATTTATTTATAAATAAATATATATAAATATATATAAATATATATTT ATATTTATTTATAAATATATATAAATATATATAAATATATATATATTTAT TTATATTTATTTATAAATAAATATATAAATATATATATATTTATTTATAT ATAAATATATATAAATCTATATTTATAGTTATTTATATATAAATATATAA ATATATATATAAATAACTATAAATATAGATTTATATATATTTATATATAA ATAACTATAAATATAGATTTATATATATTTAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074404	T T	TTATATTT others(303): Show TTATATTTATTTATAAATAAATATATATTAATATATATTTATATTTATTT ATAAATAAATATATATAAATATATATAAATATATATTTATATTTATTTAT AAATATATATAAATATATATAAATATATATATATTTATTTATATTTATTT ATAAATAAATATATAAATATATATATATTTATTTATATATAAATATATAT AAATCTATATTTATAGTTATTTATTTATAAATATATAAATATATATATAA ATAACTATAAATATAGATTTATATATATTTATATATAAATAACTATAAAT ATAGATTTATA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0189 a0001c0001t0017g0189	1	208	0.0048	310	c.-97 others(327): Show c.-97-2112_-97-2111insTTATAAATAAATATATATTAATATATAT TTATATTTATTTATAAATAAATATATATAAATATATATAAATATATATTT ATATTTATTTATAAATATATATAAATATATATAAATATATATATATTTAT TTATATTTATTTATAAATAAATATATAAATATATATATATTTATTTATAT ATAAATATATATAAATCTATATTTATAGTTATTTATTTATAAATATATAA ATATATATATAAATAACTATAAATATAGATTTATATATATTTATATATAA ATAACTATAAATATAGATTTATATATATTTAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GRIN2A_chr16_9748408_10187428	9848749	T T	TTTTAAAT others(303): Show TTTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAATAC ACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAA TATATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGTTT TATATATTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAA AATACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATAT TTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAATACAC TGTTTTATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01109.hp1 HG00408.hp2 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0020 a0001c0001t0005g0018 a0001c0001t0003g0020 a0001c0001t0005g0018	2	168	0.0119	310	c.132 others(328): Show c.1328+697_1328+1006dupTATATAAAACAGTGTATTTTATATATT TAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGT ATTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATAT ATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTAT ATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAAC AGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTA AATATATAAAACAGTGTATTTTATATATTTAAA	GRIN2A	ENSG00000183454.18	transcript	ENST00000330684.4	protein_coding	5/12			chr16	TogoVar
GRIN2A_chr16_9748408_10187428	9849139	C C	CACTGTTT others(303): Show CACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAA ATATATAAAATACACTGTTTTATATATTTAAATATATAAAATACACTGTT TTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAATATATA AAATACACTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATA TTTAAATATATAAAATACACTGTTTTATATATTTAAATATATAAAATATA CTGTTTTATATATTTAAATATATAAAATACACTGTTTTATATATTTAAAT ATATAAAATAT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0022 a0001c0001t0023g0022	1	168	0.0060	310	c.132 others(327): Show c.1328+616_1328+617insATATTTTATATATTTAAATATATAAAAC AGTGTATTTTATATATTTAAATATATAAAACAGTATATTTTATATATTTA AATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTAT TTTATATATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATAT AAAACAGTGTATTTTATATATTTAAATATATAAAACAGTGTATTTTATAT ATTTAAATATATAAAACAGTGTATTTTATATATTTAAATATATAAAACAG TGTATTTTATATATTTAAATATATAAAACAGT	GRIN2A	ENSG00000183454.18	transcript	ENST00000330684.4	protein_coding	5/12			chr16	TogoVar
GRM7_chr3_6856115_7746533	7128490	T T	TAAAAATC others(303): Show TAAAAATCAGACTTCTGGCCGGGGGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAACTACAAAAAATA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCTAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02896.hp2 HG03486.hp2 HG02280.hp2 HG02896.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0003 a0001c0003t0005 a0001c0001t0002 a0001c0002t0003 a0001c0003t0005	a0001c0001t0002g0051 a0001c0002t0003g0017 a0001c0003t0005g0015 a0001c0001t0002g0051 a0001c0002t0003g0017 a0001c0003t0005g0015	3	80	0.0375	310	c.520 others(329): Show c.520-17948_520-17947insTGGCCGGGGGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAACTA CAAAAAATAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCTAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAATCAGACTTC	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GRM8_chr7_126433598_127257941	127021337	G G	GGGAAATT others(303): Show GGGAAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02486.hp2 HG02965.hp1 others(4): Show HG00544.hp1 HG02486.hp2 HG02965.hp1 HG03195.hp2 NA19074.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0017 a0001c0001t0001g0049 a0001c0001t0001g0051 others(4): Show a0001c0001t0001g0017 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0002g0013 a0001c0001t0002g0070	7	108	0.0648	310	c.727 others(329): Show c.727+85158_727+85159insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAATTTCC	GRM8	ENSG00000179603.19	transcript	ENST00000339582.7	protein_coding	3/10			chr7	TogoVar
GTPBP6_chrX_299759_323796	321639	C C	CGTGGTGG others(303): Show CGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGA GGATTGCTTGAGCCCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGA CCCTATTATCTACAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAAATTAGC CTGGTGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGT GGGAGGATTGCTTGAGCCCAGGAGTTTGACGCCAGCATGGGCAATATGGT AAGACCCTATTATCTACAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAA ATTAGCCTGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0016 a0008c0009t0001g0016	1	155	0.0065	310	c.-28 others(321): Show c.-2853_-2852insACCAGGCTAATTTTTCTTTCTTTCTTTTTTTTTT TTTTTTTTTTGTAGATAATAGGGTCTTACCATATTGCCCATGCTGGCGTC AAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGG GACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTCTTTTTTTT TTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTGCCCATGCTGG TGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAG CTGGGACCACAGGCACCCACCACCAC	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		2844		chrX	TogoVar
HAAO_chr2_42762089_42797583	42796927	G G	GCATTTTT others(303): Show GCATTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAACTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 NA19043.hp1 HG02615.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0296 a0001c0001t0005g0236 a0001c0001t0004g0296 a0001c0001t0005g0236	2	410	0.0049	310	c.-43 others(321): Show c.-4392_-4391insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAGAAAAAATG	HAAO	ENSG00000162882.15	transcript	ENST00000294973.11	protein_coding		4345		chr2	TogoVar
HAAO_chr2_42762089_42797583	42796927	G G	GCATTTTT others(303): Show GCATTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTGTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAACTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCGTGA TCTGCCCGCCTGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0380 a0003c0003t0001g0380	1	410	0.0024	310	c.-43 others(321): Show c.-4392_-4391insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCCAGGCGGGCAGATCACGAGGTCAGGAGATCGAGAC CAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTG CACTCCAGCCTGGGCGACACAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAGAAAAAATG	HAAO	ENSG00000162882.15	transcript	ENST00000294973.11	protein_coding		4345		chr2	TogoVar
HACL1_chr3_15555699_15606569	15597524	C C	CTCATTTC others(303): Show CTCATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCTTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp1 HG02559.hp2 others(2): Show HG02257.hp1 HG02258.hp1 HG02559.hp2 HG03041.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 others(2): Show a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193	5	428	0.0117	310	c.187 others(327): Show c.187-1101_187-1100insTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTG GCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCTGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGC CACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAGAAATGA	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	2/16			chr3	TogoVar
HDHD5_chr22_17132520_17164277	17146763	A A	AATCACAC others(303): Show AATCACACGTCATCGCACACGCCCCACACCTGTGACGCCCTCCTGTGAGC TTACCGGCCTTCGATCACACGCCATCGCACACGCCCCACACCTGTGACGC CCTCCTGTGAGCTTACCGGCCTTCGATCACACGCCATCGCACACGCCCCA CACCTGTGACGCCCTCCTGTGAGCTTACCGGCCTTCGATCACACGCCATC GCACACGCCCCACACCTGTGACGCCCTCCTGTGAGCTTACCGGCATTCGA TCACACGCCATCGCACACGCCCCACACCTGTGACGCCCTCCTGTGAGCTT ACCGGCCTTCG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02135.hp1 HG04184.hp1 others(7): Show HG00558.hp2 HG02135.hp1 HG04184.hp1 NA18747.hp2 NA18977.hp2 NA18989.hp2 NA18991.hp1 NA19060.hp2 NA19084.hp1 NA19087.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0065 a0001c0002t0001g0066 others(1): Show a0001c0002t0001g0007 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0074	10	422	0.0237	310	c.443 others(327): Show c.443+1375_444-1647dupCGAAGGCCGGTAAGCTCACAGGAGGGCG TCACAGGTGTGGGGCGTGTGCGATGGCGTGTGATCGAATGCCGGTAAGCT CACAGGAGGGCGTCACAGGTGTGGGGCGTGTGCGATGGCGTGTGATCGAA GGCCGGTAAGCTCACAGGAGGGCGTCACAGGTGTGGGGCGTGTGCGATGG CGTGTGATCGAAGGCCGGTAAGCTCACAGGAGGGCGTCACAGGTGTGGGG CGTGTGCGATGGCGTGTGATCGAAGGCCGGTAAGCTCACAGGAGGGCGTC ACAGGTGTGGGGCGTGTGCGATGACGTGTGAT	HDHD5	ENSG00000069998.12	transcript	ENST00000336737.8	protein_coding	3/7			chr22	TogoVar

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Search Results (Total: 10000 hits)