Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TAFA5_chr22_48484553_48756932	48641037	C C	CCTGAAGC others(672): Show CCTGAAGCTGAGACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGA ACAGTGGGGGGCTGTTGGTGGGGGTCTGCCCTACGGGACAGCTTCTGTCT GAAGCTGAGACCGTGGGGGCACCATGGCCCTTGTTGGGGCAGTGAGAACA GTGGGGGGCTGTTGGTGGGGGTCTGCCCTATGGGACAACTTCTGTCTGAA GCTGAGACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTG GGGGGCTGTTGGTGGGGGTCTGCCCTATGGGACAGCTTCTGTCTGAAGCT GAGACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGG GGCTGTTGGTGGGGGTCTGCCCTATGGGACAGCTTCTGCCTGAAGCTGAG ACCGTGGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGC TGTTGGTGGGGGTCTGCCCTATGGGACAGCTTCTGTCTGAAGCTGAGACC GTGGGGGCACCATGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGT TGGTGGGGGTCTGCCCTATGGGACAGCTTCTGTCTGAAGCTGAGACCGTG GGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTGG TGGGGGTCTGCCCTATGGGACAGCTTCTGT	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA18906.hp2 HG03453.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0200 a0001c0001t0002g0158 a0001c0001t0002g0200	2	258	0.0078	679	c.113 others(696): Show c.113-5478_113-5477insCGGGACAGCTTCTGTCTGAAGCTGAGAC CGTGGGGGCACCATGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTG TTGGTGGGGGTCTGCCCTATGGGACAACTTCTGTCTGAAGCTGAGACCGT GGGGGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTG GTGGGGGTCTGCCCTATGGGACAGCTTCTGTCTGAAGCTGAGACCGTGGG GGCACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTGGTG GGGGTCTGCCCTATGGGACAGCTTCTGCCTGAAGCTGAGACCGTGGGGGC ACCGTGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTGGTGGGG GTCTGCCCTATGGGACAGCTTCTGTCTGAAGCTGAGACCGTGGGGGCACC ATGGCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTGGTGGGGGTC TGCCCTATGGGACAGCTTCTGTCTGAAGCTGAGACCGTGGGGGCACCGTG GCCCTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTGGTGGGGGTCTGC CCTATGGGACAGCTTCTGTCTGAAGCTGAGACCGTGGGGGCACCGTGGCC CTTGTTGGGGCAGTGAGAACAGTGGGGGGCTGTTGGTGGGGGTCTGCCCT A	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF25_chr16_89868592_89916379	89908710	C C	CCTCCCTC others(672): Show CCTCCCTCCTCCCACCTCCCAGTTCCCGCCTCCCACCTCTCACCTCCCAC CTCCCTCCTCCCAGTTCCCAGCTCCCAGCTCCCACCTCCCAGCTCCAACC TTCCAGCTCCCAGCTCCCACCTAGCAGCTCCCGGCTCCTGGCTCCCACCT CCCTCCTCCCACCTCCCACCTCCCAGCTCCCACCTCCCTCCTCCCACCTC CCACCTCCCTCCTCCCAGTTCCTACCTCCCATCTCCCAGCTCCCAGCTGC CACCTCCCAGCTTCTGCCTCCCTCCTCCCAGTTCCCACCTCCCAGCTCCC ACCTCCCAGCTCCCGCCTCCCTCATCCTAGTTCCCACCTCCCAGCTCCCA GCTCCCTCCTCCCACCTCCCACCTCCCTCCTTTCACCTCCCACCTGCCAC CTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCACCTTCCAGCTCCCGCC TCCCTCCTCCCAGTTCCCACCTCCCACCTCCCAGCTCCCACCTCCCAACT CCCTCCTCCCACCCCCCACCTCCCTCCTCCCAGTTTCCACCTCCCCGTTC CCACCTCCCACCTCCCTCCTCCCACCTCTCTCCTCCCACCTTCCAGTTCC CACCTCCTTCCTCGCAGTTCCCACCTCCCAGCTCCCACCTTCCAGCTCCC AGCTCCCAGCTCCCGCCTCCCGCCTCCCAG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG03041.hp1 HG03654.hp2 others(3): Show HG01071.hp1 HG03041.hp1 HG03654.hp2 HG03710.hp1 HG03942.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0176 a0001c0001t0001g0177 others(3): Show a0001c0001t0001g0054 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262	6	300	0.0200	679	c.179 others(698): Show c.1799+1393_1799+1394insTCCTCCCACCTCCCAGTTCCCGCCTC CCACCTCTCACCTCCCACCTCCCTCCTCCCAGTTCCCAGCTCCCAGCTCC CACCTCCCAGCTCCAACCTTCCAGCTCCCAGCTCCCACCTAGCAGCTCCC GGCTCCTGGCTCCCACCTCCCTCCTCCCACCTCCCACCTCCCAGCTCCCA CCTCCCTCCTCCCACCTCCCACCTCCCTCCTCCCAGTTCCTACCTCCCAT CTCCCAGCTCCCAGCTGCCACCTCCCAGCTTCTGCCTCCCTCCTCCCAGT TCCCACCTCCCAGCTCCCACCTCCCAGCTCCCGCCTCCCTCATCCTAGTT CCCACCTCCCAGCTCCCAGCTCCCTCCTCCCACCTCCCACCTCCCTCCTT TCACCTCCCACCTGCCACCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCC CACCTTCCAGCTCCCGCCTCCCTCCTCCCAGTTCCCACCTCCCACCTCCC AGCTCCCACCTCCCAACTCCCTCCTCCCACCCCCCACCTCCCTCCTCCCA GTTTCCACCTCCCCGTTCCCACCTCCCACCTCCCTCCTCCCACCTCTCTC CTCCCACCTTCCAGTTCCCACCTCCTTCCTCGCAGTTCCCACCTCCCAGC TCCCACCTTCCAGCTCCCAGCTCCCAGCTCCCGCCTCCCGCCTCCCAGCT CCC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TCF25_chr16_89868592_89916379	89908710	C C	CCTCCCTC others(672): Show CCTCCCTCCTCCCACCTCCCAGTTCCCGCCTCCCACCTCTCACCTCCCAC CTCCCTCCTCCCAGTTCCCAGCTCCCAGCTCCCACCTCCCAGCTCCAACC TTCCAGCTCCCAGCTCCCACCTAGCAGCTCCCGGCTCCTGGCTCCCACCT CCCTCCTCCCACCTCCCACCTCCCAGCTCCCACCTCCCTCCTCCCACCTC CCACCTCCCTCCTCCCAGTTCCTACCTCCCATCTCCCAGCTCCCAGCTGC CACCTCCCAGCTTCTGCCTCCCTCCTCCCAGTTCCCACCTCCCAGCTCCC ACCTCCCAGCTCCCGCCTCCCTCATCCTAGTTCCCACCTCCCAGCTCCCA GCTCCCTCCTCCCACCTCCCTCCTTTCACCTCCCACCTGCCACCTCCCGC CTCCCACCTTCCAGCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCTCC TCCCAGTTCCCACCTCCCACCTCCCAGCTCCCACCTCCCAACTCCCTCCT CCCACCCCCCACCTCCCTCCTCCCAGTTTCCACCTCCCCGTTCCCACCTC CCACCTCCCTCCTCCCACCTCCCAACTCTCTCCTCCCACCTTCCAGTTCC CACCTCCTTCCTCGCAGTTCCCACCTCCCAGCTCCCACCTTCCAGCTCCC AGCTCCCAGCTCCCGCCTCCCGCCTCCCAG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	300	0.0033	679	c.179 others(698): Show c.1799+1393_1799+1394insTCCTCCCACCTCCCAGTTCCCGCCTC CCACCTCTCACCTCCCACCTCCCTCCTCCCAGTTCCCAGCTCCCAGCTCC CACCTCCCAGCTCCAACCTTCCAGCTCCCAGCTCCCACCTAGCAGCTCCC GGCTCCTGGCTCCCACCTCCCTCCTCCCACCTCCCACCTCCCAGCTCCCA CCTCCCTCCTCCCACCTCCCACCTCCCTCCTCCCAGTTCCTACCTCCCAT CTCCCAGCTCCCAGCTGCCACCTCCCAGCTTCTGCCTCCCTCCTCCCAGT TCCCACCTCCCAGCTCCCACCTCCCAGCTCCCGCCTCCCTCATCCTAGTT CCCACCTCCCAGCTCCCAGCTCCCTCCTCCCACCTCCCTCCTTTCACCTC CCACCTGCCACCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCACCTTC CAGCTCCCGCCTCCCTCCTCCCAGTTCCCACCTCCCACCTCCCAGCTCCC ACCTCCCAACTCCCTCCTCCCACCCCCCACCTCCCTCCTCCCAGTTTCCA CCTCCCCGTTCCCACCTCCCACCTCCCTCCTCCCACCTCCCAACTCTCTC CTCCCACCTTCCAGTTCCCACCTCCTTCCTCGCAGTTCCCACCTCCCAGC TCCCACCTTCCAGCTCCCAGCTCCCAGCTCCCGCCTCCCGCCTCCCAGCT CCC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TCF3_chr19_1604292_1657615	1629129	C C	CAGAGCTC others(672): Show CAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGA GGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCAGGAAGGGGACAG CAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGT GAGGTGGGAAGGGGACAGCAGAGCTCACAGGGGGTAAGGCGGGAAGGGGA CAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGG GGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGG GACAGCAGAGCTCACGGGGGTGAGGCAGGAAGGGGACAGCAGAGCTCACA GGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAG GGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCA CGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGA AGGGGACAGTAGAGCTCACAGAGGGTGGGGCGGGAAGGGGACAGCAGAGC TCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGGAGC GGGAAGGGGACAGCAGAGCTCATGGGGATGGGGTGGGAAGGGGACAGCAG AGCTCACGGGTGGGGCGGGAAGGGGACAGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0076 a0002c0001t0006g0076	1	352	0.0028	679	c.299 others(696): Show c.299-1704_299-1703insTCTGTCCCCTTCCCGCCCCACCCGTGAG CTCTGCTGTCCCCTTCCCACCCCATCCCCATGAGCTCTGCTGTCCCCTTC CCGCTCCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGT GAGCTCTGCTGTCCCCTTCCCGCCCCACCCTCTGTGAGCTCTACTGTCCC CTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCC CGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTC CCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCC CCTGTGAGCTCTGCTGTCCCCTTCCTGCCTCACCCCCGTGAGCTCTGCTG TCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCAT CCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGC TGTCCCCTTCCCGCCTTACCCCCTGTGAGCTCTGCTGTCCCCTTCCCACC TCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTC TGCTGTCCCCTTCCTGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCA CCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTC T	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2377637	C C	CCCTCTCC others(672): Show CCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCTCCCTCCCTCT CCCCTCCCCTCTCCCCTCCCCTCTCCCCCTCCCCCTTCCCCCTCTCCTAC CCCTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTATCCCCT CCTCTGCCCCCCTCCCCTCTCCCCTCCCCTCCCCCCCCTCCCCTCTCCCC TCTCCCCTCTCCCCTCCCTCTCCCCTCTCCCCTCCCTCTCCCCTCCCCTC TCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCC TCCCCTCTCCCCTCTCCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCC CTCCCCTCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCC TCCCCCTTCCCCTCCCCCCCTCCCTTCCCCTCCCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCT CCCCCCCCTCCCCTCCCCCCTCTCCTCTCCCCTCCCCTCTCCCCTCTCCC CTCCCCTCTCCCCTCCCCTCTCCTCCCTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0026 a0002c0002t0001g0026	1	114	0.0088	679	c.-25 others(698): Show c.-25-12098_-25-12097insTCCCCTCCCCTCTCCCTCCCTCTCCC CTCCCCTCTCCCCTCCCCTCTCCCCCTCCCCCTTCCCCCTCTCCTACCCC TCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTATCCCCTCCT CTGCCCCCCTCCCCTCTCCCCTCCCCTCCCCCCCCTCCCCTCTCCCCTCT CCCCTCTCCCCTCCCTCTCCCCTCTCCCCTCCCTCTCCCCTCCCCTCTCC CCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCC CCTCTCCCCTCTCCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCC CCCTTCCCCTCCCCCCCTCCCTTCCCCTCCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCC CCCCCTCCCCTCCCCCCTCTCCTCTCCCCTCCCCTCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTCCTCCCTTTCCTCTCCCCTCCCCTCTCCCCTC CCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TPSAB1_chr16_1235705_1247554	1239830	C C	CGGGGGCA others(672): Show CGGGGGCAAGTCCACAGGGAGCTGGGGCCGGGGGTGAGACCATGGGGAGC TGGGCTGGGGCTGGGGGTGAGACCATGGGGAGCTGGGGCCGGGGGCTGGG ACTAGTCCATGGGGAGCTGGGCTGGGGCTGGGGGTGAGACCATGGGGAGC TGGGCTGGGGCTGGGACTAGTCCATGGGGAGCTGGGCTGGAGCTGGGGGT GAGACCATGGGGAGCTGGGGCCGGGGGCTGGGACTAGTCCATGGGGAGCT GGGCTGGGGCTGGGGGTGAGACCATGGGGAGCTGGGCTGGGGCTGGGACT AGTCCATGGGGAGCTGGGGGTGAGACCATGGGGAGCTGGGGCCGGGGGCT GCGACTAGTCCATGGGGAGCTGGGCTGGGGCTGGGGGTGAGTCCATGGGG AGCTGGGCTGGGGCTGGGGGTGAGACCATGGGGAGCTGGGCTGGGGCTGG GGGTGAGACCATGGGGAGCTGGGGCCGGGGGATGGGACTAGTCCATGGGG AGCTGGGCTGGGGCTGGGGGTGAGACCATGGGGAGCTGGGCTGGGGCTGG GACTAGTCCATGGGGAGCTGGGCTGGAGCTGGGGGTGAGACCATGGGGAG CTGGGGCCGGGGGCTGCGACTAGTCCATGGGGAGCTGGGCTGGGGCTGGG GGTGAGTCCATGGGGAGCTGGGCTGGGGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG02109.hp1 HG03516.hp2 HG00280.hp1 HG02109.hp1 HG03516.hp2	a0004 a0010 a0004 a0010	a0004c0004 a0010c0012 a0004c0004 a0010c0012	a0004c0004t0006 a0010c0012t0002 a0004c0004t0006 a0010c0012t0002	a0004c0004t0006g0019 a0010c0012t0002g0011 a0004c0004t0006g0019 a0010c0012t0002g0011	3	290	0.0103	679	c.-89 others(688): Show c.-899_-898insGGGGGCAAGTCCACAGGGAGCTGGGGCCGGGGGTGA GACCATGGGGAGCTGGGCTGGGGCTGGGGGTGAGACCATGGGGAGCTGGG GCCGGGGGCTGGGACTAGTCCATGGGGAGCTGGGCTGGGGCTGGGGGTGA GACCATGGGGAGCTGGGCTGGGGCTGGGACTAGTCCATGGGGAGCTGGGC TGGAGCTGGGGGTGAGACCATGGGGAGCTGGGGCCGGGGGCTGGGACTAG TCCATGGGGAGCTGGGCTGGGGCTGGGGGTGAGACCATGGGGAGCTGGGC TGGGGCTGGGACTAGTCCATGGGGAGCTGGGGGTGAGACCATGGGGAGCT GGGGCCGGGGGCTGCGACTAGTCCATGGGGAGCTGGGCTGGGGCTGGGGG TGAGTCCATGGGGAGCTGGGCTGGGGCTGGGGGTGAGACCATGGGGAGCT GGGCTGGGGCTGGGGGTGAGACCATGGGGAGCTGGGGCCGGGGGATGGGA CTAGTCCATGGGGAGCTGGGCTGGGGCTGGGGGTGAGACCATGGGGAGCT GGGCTGGGGCTGGGACTAGTCCATGGGGAGCTGGGCTGGAGCTGGGGGTG AGACCATGGGGAGCTGGGGCCGGGGGCTGCGACTAGTCCATGGGGAGCTG GGCTGGGGCTGGGGGTGAGTCCATGGGGAGCTGGGCTGGGGCT	TPSAB1	ENSG00000172236.19	transcript	ENST00000338844.8	protein_coding		874		chr16	TogoVar
TRAPPC9_chr8_139722725_140462744	140157002	T T	TTTTCCAT others(672): Show TTTTCCATTCAAAAGCCTCCCTTTCCATTCAGAAGCCTCCCTTTCCATTC AGAAGCCTCCCTTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTC CCTTTCCATTCAGAAGCCTCCCTTTCCATTCAAAAGCCTCCCTTTTCCAT TCAGAAGCCTCCCTTTTCCATTCAGAAGCCTCCCTTTCCATTCAGAAGCC TCCCTTTTCCATTCAGAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTC CATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTTCCATTCAAA AGCCTCCCTTTCCATTCAGAAGCCTCCCTTTTCCATTCAGAAGCCTCCCT TTTCCATTCAGAAGCCTCCCTTTCCATTCAGAAGCCTCCCTTTTCCATTC AGAAGCCTCCCTTTTCCATTCAGAAGCCTCCCTTTTCCATTCAAAAGCCT CCCTTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTTCC ATTCAGAAGCCTCCCTTTCCATTCAGAAGCCTCCCTTTTCCATTCAGAAG CCTCCCTTTTCCATTCAAAAGCCTCCCTTTCCATTCAAAAGCCTCCCTTT TCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTCCATTCAA AAGCCTCCCTTTTCCATTCAAAAGCCTCCC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0019 a0001c0003t0002g0019	1	98	0.0102	679	c.255 others(700): Show c.2556+64456_2556+64457insGGGAGGCTTTTGAATGGAAAAGGG AGGCTTTTGAATGGAAAGGGAGGCTTTTGAATGGAAAAGGGAGGCTTTTG AATGGAAAAGGGAGGCTTTTGAATGGAAAGGGAGGCTTTTGAATGGAAAA GGGAGGCTTCTGAATGGAAAAGGGAGGCTTCTGAATGGAAAGGGAGGCTT CTGAATGGAAAAGGGAGGCTTTTGAATGGAAAAGGGAGGCTTTTGAATGG AAAGGGAGGCTTTTGAATGGAAAAGGGAGGCTTCTGAATGGAAAAGGGAG GCTTCTGAATGGAAAAGGGAGGCTTCTGAATGGAAAGGGAGGCTTCTGAA TGGAAAAGGGAGGCTTCTGAATGGAAAAGGGAGGCTTCTGAATGGAAAGG GAGGCTTTTGAATGGAAAAGGGAGGCTTTTGAATGGAAAAGGGAGGCTTT TGAATGGAAAGGGAGGCTTTTGAATGGAAAAGGGAGGCTTCTGAATGGAA AAGGGAGGCTTCTGAATGGAAAGGGAGGCTTCTGAATGGAAAAGGGAGGC TTCTGAATGGAAAAGGGAGGCTTTTGAATGGAAAGGGAGGCTTCTGAATG GAAAGGGAGGCTTTTGAATGGAAAAGGGAGGCTTTTGAATGGAAAGGGAG GCTTCTGAATGGAAAGGGAGGCTTCTGAATGGAAAGGGAGGCTTTTGAAT GGAAA	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22			chr8	TogoVar
TSHZ2_chr20_52967358_53500330	53204105	T T	TATTATAT others(672): Show TATTATATCATCATATGATGATATACTATTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATA TGATACTATATCATCATATGATATGATACTATATCATCATATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATGATATGATACTATATCATCATATGATAT ACTATATCATCATATGATATACTATATCATCATATGATGATATGATACTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATGATATGATACTATATCATCATATGATGATATG ATACTATATCATCATATGATGATATGATACTATATCATCATATGATGATA TGATACTATATCATCATATGATGATATGATACTATATCATCATATGATGA TATGATACTATATCATCATATGATGATATG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0085 a0001c0001t0080g0085	1	174	0.0058	679	c.41- others(696): Show c.41-49392_41-49391insTATATCATCATATGATGATATACTATTA TATCATCATATGATGATATGATACTATATCATCATATGATGATATGATAC TATATCATCATATGATGATATGATACTATATCATCATATGATGATATGAT ACTATATCATCATATGATATGATACTATATCATCATATGATATGATACTA TATCATCATATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATACT ATATCATCATATGATGATATGATACTATATCATCATATGATGATATGATA CTATATCATCATATGATATACTATATCATCATATGATATACTATATCATC ATATGATGATATGATACTATATCATCATATGATGATATGATACTATATCA TCATATGATGATATGATACTATATCATCATATGATGATATGATACTATAT CATCATATGATGATATGATACTATATCATCATATGATGATATGATACTAT ATCATCATATGATGATATGATACTATATCATCATATGATGATATGATACT ATATCATCATATGATGATATGATACTATATCATCATATGATGATATGATA CTATATCATCATATGATGATATGATACTATATCATCATATGATGATATGA T	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TXNDC16_chr14_52425596_52557505	52530408	T T	TATATATT others(672): Show TATATATTATTATATATAATAATATAATATATATTATTATATATTATTAT ATATAATAACATAATATATATTATTATATATTATTATATATAATAACATA ATATATATTATTATATATAATTATATATAATATATAATATATATTATATA TAATTATATATAATAATATAATATATATTATTATATATAATATTATATAA TAATATAATATATATTATTATATATATTATATAATAATATAATATATATT ATTATATATTATTATATATAATTATATATAATAATATAATATATATAATA TTATTATATATAATAATATAATATATATTATTATATATTATTATATATAA TAATATAATATATATTATTATATATAATTATATATAATAATATATATTAT ATTATTATATATAATTATATATAATAATATATATATTATTATATATAATT ATATATAATATATATATATTATTATATATAATTATATATAATAATATATA TATATTATTATATATAATTATATATAATAATATATATATATTATTATATA TTATTATATATAATAATATAATATATTATTATATATTATTATATATAATA ATATAATATATATTATATATTATTATATATAATAATATAATATATATTAT ATATTATTATATATAATAATATAATATATA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	238	0.0042	679	c.392 others(696): Show c.392+6310_392+6311insTATATATTATATTATTATATATAATAAT ATATAATATATATTATATTATTATATATAATAATATATAATATATATTAT ATTATTATATATAATAATATATAATAATATATTATATTATTATATATAAT AATATATAATAATATATATATATTATTATATATAATTATATATAATAATA TATATATATTATTATATATAATTATATATAATAATATATATATATTATAT ATAATTATATATAATAATATATATATTATTATATATAATTATATATAATA ATATAATATATATTATTATATATAATTATATATAATAATATATATTATAT TATTATATATAATAATATATAATAATATATATTATATTATTATATATAAT AATATTATATATATTATATTATTATATATAATTATATATAATAATATATA ATAATATATATTATATTATTATATAATATATATAATAATATATATTATAT TATTATATAATATTATATATAATAATATATATTATATTATTATATATAAT TATATATAATATATATTATATATTATATATAATTATATATAATAATATAT ATTATGTTATTATATATAATAATATATAATAATATATATTATGTTATTAT ATATAATAATATATAATAATATATATTATATTATTATATATAATAATATA T	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
TXNDC16_chr14_52425596_52557505	52530408	T T	TATATATT others(672): Show TATATATTATTATATATAATAATATAATATATATTATTATATATTATTAT ATATAATAATATAATATATATTATTATATATTATTATATATAATAACATA ATATATATTATTATATATAATTATATATAATAATATAATATATATTATAT ATAATTATATATAATAATATAATATATATTATTATATATAATATTATATA ATAATATAATATATATTATTATATATATTATATAATAATATAATATATAT TATTATATATTATTATATATAATTATATATAATAATATAATATATATAAT ATTATTATATATAATAATATAATATATATTATTATATATTATTATATATA ATAATATAATATATATTATTATATATAATTATATATAATAATATATATTA TATTATTATATATAATTATATATAATAATATATATATATTATATATAATT ATATATAATATATATATATTATTATATATAATTATATATAATAATATATA TATATTATTATATATAATTATATATAATAATATATATATATTATTATATA TTATTATATATAATAATATAATATATTATTATATATTATTATATATAATA ATATAATATATATTATATATTATTATATATAATAATATAATATATATTAT ATATTATTATATATAATAATATAATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01517.hp2 HG01167.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0232 a0001c0001t0009g0233 a0001c0001t0009g0232 a0001c0001t0009g0233	2	238	0.0084	679	c.392 others(696): Show c.392+6310_392+6311insTATATATTATATTATTATATATAATAAT ATATAATATATATTATATTATTATATATAATAATATATAATATATATTAT ATTATTATATATAATAATATATAATAATATATTATATTATTATATATAAT AATATATAATAATATATATATATTATTATATATAATTATATATAATAATA TATATATATTATTATATATAATTATATATAATAATATATATATATTATAT ATAATTATATATAATATATATATATTATTATATATAATTATATATAATAA TATAATATATATTATTATATATAATTATATATAATAATATATATTATATT ATTATATATAATAATATATAATAATATATATTATATTATTATATATAATA ATATTATATATATTATATTATTATATATAATTATATATAATAATATATAA TAATATATATTATATTATTATATAATATATATAATAATATATATTATATT ATTATATAATATTATATATAATAATATATATTATATTATTATATATAATT ATATATAATATATATTATATTATTATATATAATTATATATAATAATATAT ATTATGTTATTATATATAATAATATATAATAATATATATTATATTATTAT ATATAATAATATATAATAATATATATTATATTATTATATATAATAATATA T	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
UMAD1_chr7_7635752_7884223	7679092	T T	TATAAATA others(672): Show TATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTT AGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACAT ATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTT ACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATAT ATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAAT ATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTAT AAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGT TTATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGT TTATAAATACATATTTATTTAGTTTATAAATACATATTTACATATTTAGT TTATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATT TAGTTTATAAGTACATATTTATATATTTAGTTTATAAGTACATATTTATA TATTTAATTTATAAGTATATATTTATATATTTAATTTATAGATAAATATA TATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATTTATA GATAAATATATTTATATATTTAATTTATAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01256.hp1 NA19076.hp2 HG01106.hp2 HG01256.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0024 a0001c0001t0033 a0001c0001t0023 a0001c0001t0024 a0001c0001t0033	a0001c0001t0023g0202 a0001c0001t0024g0038 a0001c0001t0033g0203 a0001c0001t0023g0202 a0001c0001t0024g0038 a0001c0001t0033g0203	3	250	0.0120	679	c.82+ others(694): Show c.82+5644_82+5645insTATATATTTACATATTTAGTTTATAAATAT ATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAA ATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTT ATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTA GTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATA TTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTA CATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATA TTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATA TTTACATATTTAGTTTATAAATACATATTTATTTAGTTTATAAATACATA TTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATA CATATTTATATATTTAGTTTATAAGTACATATTTATATATTTAGTTTATA AGTACATATTTATATATTTAATTTATAAGTATATATTTATATATTTAATT TATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATTTAT ATATTTAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679092	T T	TATAAATA others(672): Show TATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTT AGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACAT ATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTT ACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATAT ATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAAT ATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTAT AAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGT TTATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGT TTATAAATACATATTTATTTAGTTTATAAATACATATTTACATATTTAGT TTATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATATT TAGTTTATAAGTACATATTTATATATTTAGTTTATAAGTACATATTTATA TATTTAGTTTATAAGTATATATTTATATATTTAATTTATAGATAAATATA TATTTATATATTTAATTTATAGATAAATATATTTATATATTTAATTTATA GATAAATATATTTATATATTTAATTTATAG	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA19004.hp2 NA18960.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0204 a0001c0001t0003g0205	2	250	0.0080	679	c.82+ others(694): Show c.82+5644_82+5645insTATATATTTACATATTTAGTTTATAAATAT ATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAA ATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTT ATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTA GTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATA TTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTA CATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATA TTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATA TTTACATATTTAGTTTATAAATACATATTTATTTAGTTTATAAATACATA TTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATA CATATTTATATATTTAGTTTATAAGTACATATTTATATATTTAGTTTATA AGTACATATTTATATATTTAGTTTATAAGTATATATTTATATATTTAATT TATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATTTAT ATATTTAATTTATAGATAAATATATTTATATATTTAATTTATAGATAAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679098	C C	CATATATT others(672): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTAT ATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAATATATAT TTATATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATAT ATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATAT ATATTTACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATAC ATATTTACATATTTAGTTTATAAATATTTACATATTTAGTTTATAAATAC ATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAA ATACATATTTATATATTTAGTTTATAAATACATATTTATATATTTAGTTT ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAGTTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0090 a0001c0001t0018g0090	1	250	0.0040	679	c.82+ others(694): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGT TTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATT TAGTTTATAAACATATATTTATATATTTAGTTTATAAATATATATTTATA TATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATT TACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATATATATT TACATATTTAGTTTATAAATATATATTTATTTAGTTTATAAATACATATT TACATATTTAGTTTATAAATATTTACATATTTAGTTTATAAATACATATT TACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACA TATTTATATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAA TATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAA TTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATAT TTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
VAT1_chr17_43009607_43027385	43024257	A A	AATCTCGG others(672): Show AATCTCGGCTCACTGCCACCTCCACCTCCCGGGTTCAAGCGATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACGGGCACGCGCCACCACGCCCGG CTACTTTTTGTATTTTTAGTGGAGACGGGGTTTCCCCATGTTGGCCAGGC TGGTCTCAAACTCCTGACCTCAGATATCCACCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCAAAAAAAGCACTTT TAAAAGGTAAAAGATGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGAAGGCCGAGGCGGGTGGATACCTGAGGTCAGGAGTTTGAGACC AACCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTA GCTGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATCGGTTGAACCCGGGAGGCGGAGGTTGCAGTGCGCTGAGAT CGCGCCACTGCACTCCAGCCTGCCCGACAGAGCGAGACTCCGCCTCAAAA AAAAAAAAAAAAAAAAAAAGGTAAAAGATGCCATGCAAATACGTATCAGT GGTTTGATTATTGCTAGACTTTTTTTTTTTTTTTGAGACGGAGTATTGCT CTATCGCCCAGGCTGAAGTGCAGTGGCACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG01433.hp1 HG02602.hp2 others(6): Show HG00438.hp1 HG01433.hp1 HG02602.hp2 HG02738.hp2 HG03688.hp2 HG04115.hp2 NA18955.hp2 NA19005.hp1 NA19080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0011 a0001c0002t0001g0013 a0001c0002t0001g0034 others(5): Show a0001c0002t0001g0011 a0001c0002t0001g0013 a0001c0002t0001g0034 a0001c0002t0001g0062 a0001c0002t0002g0012 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0091	9	344	0.0262	679	c.-19 others(690): Show c.-1936_-1935insCGTGCCACTGCACTTCAGCCTGGGCGATAGAGCA ATACTCCGTCTCAAAAAAAAAAAAAAAGTCTAGCAATAATCAAACCACTG ATACGTATTTGCATGGCATCTTTTACCTTTTTTTTTTTTTTTTTTTTTTT GAGGCGGAGTCTCGCTCTGTCGGGCAGGCTGGAGTGCAGTGGCGCGATCT CAGCGCACTGCAACCTCCGCCTCCCGGGTTCAACCGATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGATTACAGACGTGCGCCACCATGCCCAGCTAAT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGTTGGTC TCAAACTCCTGACCTCAGGTATCCACCCGCCTCGGCCTTCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGTGCCCGGCCATCTTTTACCTTTTAAAAG TGCTTTTTTTGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGTGGATATCTGAGGTCAGGAGTTTGAGACCAGCCT GGCCAACATGGGGAAACCCCGTCTCCACTAAAAATACAAAAAGTAGCCGG GCGTGGTGGCGCGTGCCCGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATCGCTTGAACCCGGGAGGTGGAGGTGGCAGTGAGCCGAGAT	VAT1	ENSG00000108828.16	transcript	ENST00000355653.8	protein_coding		1873		chr17	TogoVar
VAT1_chr17_43009607_43027385	43024257	A A	AATCTCGG others(672): Show AATCTCGGCTCACTGCCACCTCCACCTCCCGGGTTCAAGCGATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACGGGCACGCGCCACCACGCCCGG CTACTTTTTGTATTTTTAGTGGAGACGGGGTTTCCCCATGTTGGCCAGGC TGGTCTCAAACTCCTGACCTCAGATATCCACCCGCCTCGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCAAAAAAAGCACTTT TAAAAGGTAAAAGATGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGAAGGCCGAGGCGGGTGGATACCTGAGGTCAGGAGTTTGAGACC AACCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTA GCTGGGCATGGTGGCGCACGTCTGTAATCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATCGGTTGAACCCGGGAGGCGGAGGTTGCAGTGCGCTGAGAT CGCGCCACTGCACTCCAGCCTGCCCGACAGAGCGAGACTCCGCCTCAAAA AAAAAAAAAAAAAAAAAAGGTAAAAGATGCCATGCAAATACGTATCAGTG GTTTGATTATTGCTAGACTTTTTTTTTTTTTTTTGAGACGGAGTATTGCT CTATCGCCCAGGCTGAAGTGCAGTGGCACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG06807.hp2 NA19062.hp1 HG02683.hp1 HG06807.hp2 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0059 a0001c0002t0002g0005 a0001c0002t0002g0058 a0001c0002t0001g0059 a0001c0002t0002g0005 a0001c0002t0002g0058	3	344	0.0087	679	c.-19 others(690): Show c.-1936_-1935insCGTGCCACTGCACTTCAGCCTGGGCGATAGAGCA ATACTCCGTCTCAAAAAAAAAAAAAAAAGTCTAGCAATAATCAAACCACT GATACGTATTTGCATGGCATCTTTTACCTTTTTTTTTTTTTTTTTTTTTT GAGGCGGAGTCTCGCTCTGTCGGGCAGGCTGGAGTGCAGTGGCGCGATCT CAGCGCACTGCAACCTCCGCCTCCCGGGTTCAACCGATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGATTACAGACGTGCGCCACCATGCCCAGCTAAT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGTTGGTC TCAAACTCCTGACCTCAGGTATCCACCCGCCTCGGCCTTCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGTGCCCGGCCATCTTTTACCTTTTAAAAG TGCTTTTTTTGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGTGGATATCTGAGGTCAGGAGTTTGAGACCAGCCT GGCCAACATGGGGAAACCCCGTCTCCACTAAAAATACAAAAAGTAGCCGG GCGTGGTGGCGCGTGCCCGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATCGCTTGAACCCGGGAGGTGGAGGTGGCAGTGAGCCGAGAT	VAT1	ENSG00000108828.16	transcript	ENST00000355653.8	protein_coding		1873		chr17	TogoVar
VSIG4_chrX_66016738_66045080	66037121	A A	AATATATA others(672): Show AATATATATAATATATATAATATATATAATATAATATAATGCAATATATA ATAATTATATAATATAATATATAATATATAATATATATTATATATAATAT ATAATATATAATATATATTATATATAATAATATAATATATAATATACATT ATATAATAATATAATATATAATATACATTATATAATAATATAATATATAA TATACATTATATAATAATATAATGTATATTATATAATAATAATGTAATAT ATAACATATATTATATAATAATAATATAAGATATATTATATAATTAATAT AATATATAACATATATTATATAATAATAATATAAGATATATTATATAATT AATATAATATATAATATATATTATATAATTAATATAATATATAATATATA TTATATAATAATAATATAATATATATAATAATTATATAATATTAGAATAT ATATTATATAATAATAATATAATATATATAATAATTATATAATATTAGAA TATATATTATACAATAATAATATAATATATATTATACAATAATAATATAA TATATATATAATTATATAATATAATATATATAATAATAATATAATATAAT ATATAATATATATTATATAGTAATAATATAATATAATATATAATATATAT TATATAATAATATAATATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03516.hp2 HG03209.hp1 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	2	218	0.0092	679	c.55+ others(694): Show c.55+2822_55+2823insATATTATATATTATATTATATTATTATATA ATATATATTATATATTATATTATATTATTACTATATAATATATATTATAT ATTATATTATATTATTATTATATATATTATATTATATAATTATATATATA TTATATTATTATTGTATAATATATATTATATTATTATTGTATAATATATA TTCTAATATTATATAATTATTATATATATTATATTATTATTATATAATAT ATATTCTAATATTATATAATTATTATATATATTATATTATTATTATATAA TATATATTATATATTATATTAATTATATAATATATATTATATATTATATT AATTATATAATATATCTTATATTATTATTATATAATATATGTTATATATT ATATTAATTATATAATATATCTTATATTATTATTATATAATATATGTTAT ATATTACATTATTATTATATAATATACATTATATTATTATATAATGTATA TTATATATTATATTATTATATAATGTATATTATATATTATATTATTATAT AATGTATATTATATATTATATTATTATATATAATATATATTATATATTAT ATATTATATATAATATATATTATATATTATATATTATATTATATAATTAT TATATATTGCATTATATTATATTATATATATTATATATATTATATATAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
WIPF2_chr17_40214304_40289136	40235146	C C	CGGCCTCC others(672): Show CGGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCAGCCC ATTGTGCAAATCTTAAGTGTTGGTAGAATTTAAACCACAATGGCACTGAT GGAGGATTCTGATAAATGTAGTTCCCAGGCCTCCAGATGAATCCAGAAGG AAGTAGAAGTGAAAGTTACAAAAGAAAAAAAATTTAGCGCCCAGTATAAT GACTGTATCATTCGATTACCTTTACTTCCTTGTGTAGTTTTTCCCTAGAC ATAGTAATTGTCATTCTTTTCCTTCCTTCCCTTTTTTGTTTTCTGCTTGT TTTACGGAAAGTCACTGATTCATCCCTAAACTCTGACAGGTATAAACCTC TTCTCATCATTGAAGCACATTAGTGGAGCACCTCTTCCAGAGGCTTTATG AAAGGAGTCTTTGGAGAGTGAGACTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGC TCACCACAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTACCTCAGCCT CCCGAGTAGCTGGGATTACAGGCATGCATCACCATGCCCAGCTAATTTTG TATTTTTAGTAGAGAACGGGTTTCTTCCATGTTGGTCAGGCTGGTCTCGA ATTCCCGACCTCAGGTGATCTGCCTGTCTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03453.hp1 HG06807.hp2 HG03098.hp1 HG03453.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0087 a0001c0001t0096 a0001c0001t0077 a0001c0001t0087 a0001c0001t0096	a0001c0001t0077g0148 a0001c0001t0087g0134 a0001c0001t0096g0161 a0001c0001t0077g0148 a0001c0001t0087g0134 a0001c0001t0096g0161	3	314	0.0096	679	c.-70 others(698): Show c.-70+15683_-70+16361dupTTGAGCCACCACGCCCAGCCCATTGT GCAAATCTTAAGTGTTGGTAGAATTTAAACCACAATGGCACTGATGGAGG ATTCTGATAAATGTAGTTCCCAGGCCTCCAGATGAATCCAGAAGGAAGTA GAAGTGAAAGTTACAAAAGAAAAAAAATTTAGCGCCCAGTATAATGACTG TATCATTCGATTACCTTTACTTCCTTGTGTAGTTTTTCCCTAGACATAGT AATTGTCATTCTTTTCCTTCCTTCCCTTTTTTGTTTTCTGCTTGTTTTAC GGAAAGTCACTGATTCATCCCTAAACTCTGACAGGTATAAACCTCTTCTC ATCATTGAAGCACATTAGTGGAGCACCTCTTCCAGAGGCTTTATGAAAGG AGTCTTTGGAGAGTGAGACTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT TTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTCAGCTCACC ACAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTACCTCAGCCTCCCGA GTAGCTGGGATTACAGGCATGCATCACCATGCCCAGCTAATTTTGTATTT TTAGTAGAGAACGGGTTTCTTCCATGTTGGTCAGGCTGGTCTCGAATTCC CGACCTCAGGTGATCTGCCTGTCTTGGCCTCCCAAAGTGCTGGGATTACA GGC	WIPF2	ENSG00000171475.14	transcript	ENST00000323571.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
ZDHHC11B_chr5_705355_789729	783822	C C	CAGCAGCC others(672): Show CAGCAGCCCCCAAATACCCATCAAAACAGCCCCCAACCCTCATCAAAACA GCAGCCCTCAACCCCCATCAAAACAGCAGCCCTCAACCCCCATCAAAACA GCAGCCCCCTAAACCCCCATCAAAACAGCAGCCCCCCAAACCCCCATCAA GACAACAGCCCCCCCAACCCGTATCAAAACAGCAGCCCCCAACCCCTCAT CAAAACAGCAGCCCCCAGACCCCATCAAAACAGCAGCCCCCCAACCCCTA TCAAAACAGCAGCCTCCCAACCCCTATCAAAACAGCAGCCCCCAACCCCC TATCAAAACAGCAGCCCCCCTAAGCCCCCATCAAGACAGCAGCCTCCCAA CCCCACATCAAAACAGCAGCCCCCCAGACCCCATCAAAACAGCAGCCCCC AACCACCTATCAAAACAGCAGCCCCCCAACCCCTATCAAAACAGCAGCCC CCCAACCCCCTATCAAAACAGTAGCCTCCCAACCACCTATCAAAACAGCA GCCTCCCAACCCCCTATCAAAACAGCAGCCCCCAAACCCCTATCAAAACT GCAGCTCCCAACCCCCTATCAAAACAGCAGTCCCCCAACCCTATCAAAAC AGCAGCCCTCCAACCCCCTATCAAAACAGCAGCCCCCCAAACCCCTATCA AAACAGCAGCCCCCAACCCCGTATCAAAAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG01952.hp2 others(12): Show HG01884.hp2 HG01891.hp1 HG01952.hp2 HG02055.hp1 HG02148.hp1 HG02257.hp2 HG02572.hp2 HG02630.hp2 HG02895.hp2 HG02922.hp2 HG03017.hp1 HG03225.hp1 HG03486.hp1 NA18906.hp1 NA19240.hp2	a0001 a0005 a0001 a0005	a0001c0003 a0001c0004 a0001c0008 others(3): Show a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0001c0014 a0005c0018	a0001c0003t0028 a0001c0004t0005 a0001c0004t0007 others(4): Show a0001c0003t0028 a0001c0004t0005 a0001c0004t0007 a0001c0008t0007 a0001c0009t0029 a0001c0014t0032 a0005c0018t0031	a0001c0003t0028g0026 a0001c0004t0005g0041 a0001c0004t0005g0042 others(12): Show a0001c0003t0028g0026 a0001c0004t0005g0041 a0001c0004t0005g0042 a0001c0004t0005g0045 a0001c0004t0005g0046 a0001c0004t0005g0049 a0001c0004t0007g0040 a0001c0004t0007g0043 a0001c0004t0007g0044 a0001c0008t0007g0050 a0001c0009t0029g0028 a0001c0009t0029g0029 a0001c0014t0032g0047 a0001c0014t0032g0048 a0005c0018t0031g0010	15	271	0.0554	679	c.-23 others(696): Show c.-230+845_-230+846insATTTTGATACGGGGTTGGGGGCTGCTGT TTTGATAGGGGTTTGGGGGGCTGCTGTTTTGATAGGGGGTTGGAGGGCTG CTGTTTTGATAGGGTTGGGGGACTGCTGTTTTGATAGGGGGTTGGGAGCT GCAGTTTTGATAGGGGTTTGGGGGCTGCTGTTTTGATAGGGGGTTGGGAG GCTGCTGTTTTGATAGGTGGTTGGGAGGCTACTGTTTTGATAGGGGGTTG GGGGGCTGCTGTTTTGATAGGGGTTGGGGGGCTGCTGTTTTGATAGGTGG TTGGGGGCTGCTGTTTTGATGGGGTCTGGGGGGCTGCTGTTTTGATGTGG GGTTGGGAGGCTGCTGTCTTGATGGGGGCTTAGGGGGGCTGCTGTTTTGA TAGGGGGTTGGGGGCTGCTGTTTTGATAGGGGTTGGGAGGCTGCTGTTTT GATAGGGGTTGGGGGGCTGCTGTTTTGATGGGGTCTGGGGGCTGCTGTTT TGATGAGGGGTTGGGGGCTGCTGTTTTGATACGGGTTGGGGGGGCTGTTG TCTTGATGGGGGTTTGGGGGGCTGCTGTTTTGATGGGGGTTTAGGGGGCT GCTGTTTTGATGGGGGTTGAGGGCTGCTGTTTTGATGGGGGTTGAGGGCT GCTGTTTTGATGAGGGTTGGGGGCTGTTTTGATGGGTATTTGGGGGCTGC T	ZDHHC11B	ENSG00000206077.14	transcript	ENST00000508859.8	protein_coding	1/13			chr5	TogoVar
ZDHHC11B_chr5_705355_789729	783822	C C	CAGCAGCC others(672): Show CAGCAGCCCCCAAATACCCATCAAAACAGCCCCCAACCCTCATCAAAACA GCAGCCCTCAACCCCCATCAAAACAGCAGCCCTCAACCCCCATCAAAACA GCAGCCCCCTAAACCCCCATCAAAACAGCAGCCCCCCAAACCCCCATCAA GACAACAGCCCCCCCAACCCGTATCAAAACAGCAGCCCCCAACCCCTCAT CAAAACAGCAGCCCCCAGACCCCATCAAAACAGCAGCCCCCCAACCCCTA TCAAAACAGCAGCCTCCCAACCCCTATCAAAACAGCAGCCCCCAACCCCC TATCAAAACAGCAGCCCCCCTAAGCCCCCATCAAGACAGCAGCCTCCCAA CCCCACATCAAAACAGCAGCCCCCCAGACCCCATCAAAATAGCAGCCCCC AACCACCTATCAAAACAGCAGCCCCCCAACCCCTATCAAAACAGCAGCCC CCCAACCCCCTATCAAAACAGTAGCCTCCCAACCACCTATCAAAACAGCA GCCTCCCAACCCCCTATCAAAACAGCAGCCCCCAAACCCCTATCAAAACT GCAGCTCCCAACCCCCTATCAAAACAGCAGTCCCCCAACCCTATCAAAAC AGCAGCCCTCCAACCCCCTATCAAAACAGCAGCCCCCCAAACCCCTATCA AAACAGCAGCCCCCAACCCCGTATCAAAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01261.hp1 HG01346.hp1 others(12): Show HG00140.hp2 HG01261.hp1 HG01346.hp1 HG01884.hp1 HG01891.hp2 HG02145.hp2 HG02257.hp1 HG02280.hp1 HG02723.hp2 HG02809.hp1 HG04115.hp1 NA18522.hp1 NA18522.hp2 NA18979.hp1 NA20300.hp2	a0001 a0012 a0016 a0001 a0012 a0016	a0001c0001 a0001c0004 a0001c0008 others(5): Show a0001c0001 a0001c0004 a0001c0008 a0001c0009 a0001c0040 a0001c0043 a0012c0063 a0016c0061	a0001c0001t0047 a0001c0004t0005 a0001c0004t0044 others(6): Show a0001c0001t0047 a0001c0004t0005 a0001c0004t0044 a0001c0008t0007 a0001c0009t0039 a0001c0040t0005 a0001c0043t0045 a0012c0063t0031 a0016c0061t0042	a0001c0001t0047g0012 a0001c0004t0005g0017 a0001c0004t0005g0025 others(12): Show a0001c0001t0047g0012 a0001c0004t0005g0017 a0001c0004t0005g0025 a0001c0004t0044g0011 a0001c0008t0007g0018 a0001c0008t0007g0019 a0001c0008t0007g0020 a0001c0008t0007g0021 a0001c0008t0007g0022 a0001c0008t0007g0023 a0001c0009t0039g0024 a0001c0040t0005g0016 a0001c0043t0045g0013 a0012c0063t0031g0015 a0016c0061t0042g0014	15	271	0.0554	679	c.-23 others(696): Show c.-230+845_-230+846insATTTTGATACGGGGTTGGGGGCTGCTGT TTTGATAGGGGTTTGGGGGGCTGCTGTTTTGATAGGGGGTTGGAGGGCTG CTGTTTTGATAGGGTTGGGGGACTGCTGTTTTGATAGGGGGTTGGGAGCT GCAGTTTTGATAGGGGTTTGGGGGCTGCTGTTTTGATAGGGGGTTGGGAG GCTGCTGTTTTGATAGGTGGTTGGGAGGCTACTGTTTTGATAGGGGGTTG GGGGGCTGCTGTTTTGATAGGGGTTGGGGGGCTGCTGTTTTGATAGGTGG TTGGGGGCTGCTATTTTGATGGGGTCTGGGGGGCTGCTGTTTTGATGTGG GGTTGGGAGGCTGCTGTCTTGATGGGGGCTTAGGGGGGCTGCTGTTTTGA TAGGGGGTTGGGGGCTGCTGTTTTGATAGGGGTTGGGAGGCTGCTGTTTT GATAGGGGTTGGGGGGCTGCTGTTTTGATGGGGTCTGGGGGCTGCTGTTT TGATGAGGGGTTGGGGGCTGCTGTTTTGATACGGGTTGGGGGGGCTGTTG TCTTGATGGGGGTTTGGGGGGCTGCTGTTTTGATGGGGGTTTAGGGGGCT GCTGTTTTGATGGGGGTTGAGGGCTGCTGTTTTGATGGGGGTTGAGGGCT GCTGTTTTGATGAGGGTTGGGGGCTGTTTTGATGGGTATTTGGGGGCTGC T	ZDHHC11B	ENSG00000206077.14	transcript	ENST00000508859.8	protein_coding	1/13			chr5	TogoVar
ABCB11_chr2_168915781_169036324	168975506	G G	GATAAATA others(673): Show GATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATATA AATATATAAATATTTTTATATTTATAGATAAATATATAAATATATAAATA TTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAATATA TAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATATAAA TATTTATATATTTATAGATAAATATATAAATATTTTTATATTTATAGATA AATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAA TATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATA AATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAA TATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATA AATATATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATA TATAAATATTTTTATATTTATAGATAAATAT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0002 a0005c0011t0002	a0005c0011t0002g0151 a0005c0011t0002g0151	1	306	0.0033	680	c.130 others(699): Show c.1308+1070_1308+1071insATATTTATCTATAAATATAAAAATAT TTATATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTAT ATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAA AAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCT ATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTAT ATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAA AAATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCT ATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTAT ATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAT AAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATATATTT ATCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAAATAT AAAAATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTAT ATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATATAT TTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABR_chr17_998519_1184981	1173303	T T	TCCACCCC others(673): Show TCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTC CACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCTCAGCCCA CCCCCCCCACACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACC CAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCAACAC ATCACCTCAGTCCACCCCCCGCCCCATCACCTCAGCCCACCCAACACATC ACCTCAGTCCACTCAACACATCACCTCAGCCCACCCCCCCCATCACCTCA GCCCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGCCCAC CCAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCG CCCCATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACAT CACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCACCTC AGCCCACCCAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTCAGC CCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACTC AACACATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCAACACA TCACCTCAGTCCACCCCCCCATCACCTCAGC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02886.hp2 HG02145.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0073 a0001c0001t0014 a0001c0001t0073	a0001c0001t0014g0243 a0001c0001t0073g0245 a0001c0001t0014g0243 a0001c0001t0073g0245	2	337	0.0059	680	c.61+ others(695): Show c.61+6363_61+6364insGCTGAGGTGATGGGGGGGTGGACTGAGGTG ATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGTGT TGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTG GGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGC TGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGT GATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGG GCGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTG GGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGG CTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGG TGATGTGTTGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGA TGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTT GGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTGGGGGGG GTGGGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGT GGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACER1_chr19_6301142_6338612	6318734	T T	TGAGATCG others(673): Show TGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATC TCAAAATAAATAAATAAATAAATAAAATGTTCATGCCTCCTGTAAATAAA ATCTAAACTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTTCTCTCTGTTC CCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGTGCCCGCCGCCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAT GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCAGCCGCCTCAGCCTCCCAAGTGCTGGGATTACAGGTGAGAGCCACCGC GCCCGGCCAAAATCTAAACTCTTAAACTTGCCTTATAAAATTATTCCTGG CCGGGCGTCGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGTTGAGG CAGGCGGATCACGAAGTCAGGAGATCGAGACCATCCTGGCTAACACGGTG AAACGCCGTCTCTACTAAAAAATACAAAAAAAATTAGCCGGGCATGGTGG CGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAATCCGGGAGGCGGAGGTTGCAGTGAGCC	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA20905.hp1 HG03688.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0170 a0002c0002t0001g0339 a0001c0001t0001g0170 a0002c0002t0001g0339	2	396	0.0051	680	c.94- others(695): Show c.94-6236_94-6235insGGCTCACTGCAACCTCCGCCTCCCGGATTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC GCCACCATGCCCGGCTAATTTTTTTTGTATTTTTTAGTAGAGACGGCGTT TCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCT GCCTCAACCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACGACGCCCG GCCAGGAATAATTTTATAAGGCAAGTTTAAGAGTTTAGATTTTGGCCGGG CGCGGTGGCTCTCACCTGTAATCCCAGCACTTGGGAGGCTGAGGCGGCTG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGCGGCGGGCACCT GTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGG GAGGCGGAGCTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGG GGAACAGAGAGAACTCCATCTCAAAAAAAAAAAAAAAAAAAGAGTTTAGA TTTTATTTACAGGAGGCATGAACATTTTATTTATTTATTTATTTATTTTG AGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTC	ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding	1/5			chr19	TogoVar
ACER1_chr19_6301142_6338612	6318734	T T	TGAGATCG others(673): Show TGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATC TCAAAATAAATAAATAAATAAATAAAATGTTCATGCCTCCTGTAAATAAA ATCTAAACTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTTCTCTCTGTTC CCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGTGCCCGCCGCCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAT GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCAGCCGCCTCAGCCTCCCAAGTGCTGGGATTACAGGTGAGAGCCACCGC GCCCGGCCAAAATCTAAACTCTTAAACTTGCCTTATAAAATTATTCCTGG CCGGGCGTCGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGTTGAGG CAGGCGGATCACGAAGTCAGGAGATCGAGACCATCCTGGCTGACACGGTG AAACGCCGTCTCTACTAAAAAATACAAAAAAAATTAGCCGGGCATGGTGG CGGGCGCCTGTAGACCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAATCCGGGAGGCGGAGGTTGCAGTGAGCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02280.hp2 HG02965.hp1 HG01243.hp2 HG02280.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0085 a0001c0001t0001g0200 a0001c0001t0001g0068 a0001c0001t0001g0085 a0001c0001t0001g0200	3	396	0.0076	680	c.94- others(695): Show c.94-6236_94-6235insGGCTCACTGCAACCTCCGCCTCCCGGATTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTCTACAGGCGCCC GCCACCATGCCCGGCTAATTTTTTTTGTATTTTTTAGTAGAGACGGCGTT TCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCT GCCTCAACCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACGACGCCCG GCCAGGAATAATTTTATAAGGCAAGTTTAAGAGTTTAGATTTTGGCCGGG CGCGGTGGCTCTCACCTGTAATCCCAGCACTTGGGAGGCTGAGGCGGCTG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGCGGCGGGCACCT GTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGG GAGGCGGAGCTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGG GGAACAGAGAGAACTCCATCTCAAAAAAAAAAAAAAAAAAAGAGTTTAGA TTTTATTTACAGGAGGCATGAACATTTTATTTATTTATTTATTTATTTTG AGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTC	ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding	1/5			chr19	TogoVar
ACER1_chr19_6301142_6338612	6318734	T T	TGAGATCG others(673): Show TGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATC TCAAAATAAATAAATAAATAAATAAAATGTTCATGCCTCCTGTAAATAAA ATCTAAACTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTTCTCTCTGTTC CCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGTGCCCGCCGCCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAT GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCAGCCGCCTCAGCCTCCCAAGTGCTGGGATTACAGGTGAGAGCCACCGC GCCCGGCCAAAATCTAAACTCTTAAACTTGCCTTATAAAATTATTCCTGG CCGGGCGTCGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGTTGAGG CAGGCGGATCACGAAGTCAGGAGATCGAGACCATCCTGGCTGACACGGTG AAACGCCGTCTCTACTAAAAAATACAAAAAAAATTAGCCGGGCATGGTGG CGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAATCCGGGAGGCGGAGGTTGCAGTGAGCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00558.hp2 others(97): Show HG00280.hp1 HG00323.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01516.hp1 HG01891.hp1 HG01928.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp2 HG02071.hp1 HG02071.hp2 HG02135.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02630.hp1 HG02683.hp1 HG02717.hp2 HG02723.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 HG04199.hp1 NA18612.hp2 NA18939.hp1 NA18942.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp1 NA18959.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19057.hp2 NA19062.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0002c0005 a0003c0011 a0006c0010	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(4): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0002c0002t0001 a0002c0005t0001 a0003c0011t0001 a0006c0010t0001	a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0027 others(94): Show a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0056 a0001c0001t0001g0078 a0001c0001t0001g0121 a0001c0001t0001g0132 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0169 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0258 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0346 a0001c0001t0001g0350 a0001c0003t0001g0367 a0001c0004t0001g0381 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0013 a0002c0002t0001g0033 a0002c0002t0001g0039 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0055 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0096 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0106 a0002c0002t0001g0111 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0120 a0002c0002t0001g0122 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0167 a0002c0002t0001g0213 a0002c0002t0001g0216 a0002c0002t0001g0240 a0002c0002t0001g0242 a0002c0002t0001g0247 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0261 a0002c0002t0001g0271 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0284 a0002c0002t0001g0288 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0312 a0002c0002t0001g0317 a0002c0002t0001g0337 a0002c0002t0001g0352 a0002c0005t0001g0356 a0002c0005t0001g0358 a0002c0005t0001g0363 a0002c0005t0001g0371 a0003c0011t0001g0377 a0006c0010t0001g0015	100	396	0.2525	680	c.94- others(695): Show c.94-6236_94-6235insGGCTCACTGCAACCTCCGCCTCCCGGATTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC GCCACCATGCCCGGCTAATTTTTTTTGTATTTTTTAGTAGAGACGGCGTT TCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCT GCCTCAACCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACGACGCCCG GCCAGGAATAATTTTATAAGGCAAGTTTAAGAGTTTAGATTTTGGCCGGG CGCGGTGGCTCTCACCTGTAATCCCAGCACTTGGGAGGCTGAGGCGGCTG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGCGGCGGGCACCT GTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGG GAGGCGGAGCTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGG GGAACAGAGAGAACTCCATCTCAAAAAAAAAAAAAAAAAAAGAGTTTAGA TTTTATTTACAGGAGGCATGAACATTTTATTTATTTATTTATTTATTTTG AGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTC	ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding	1/5			chr19	TogoVar
ACER1_chr19_6301142_6338612	6318734	T T	TGAGATCG others(673): Show TGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATC TCAAAATAAATAAATAAATAAATAAAATGTTCATGCCTCCTGTAAATAAA ATCTAAACTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTTCTCTCTGTTC CCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGTGCCCGCTGCCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAT GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCAGCCGCCTCAGCCTCCCAAGTGCTGGGATTACAGGTGAGAGCCACCGC GCCCGGCCAAAATCTAAACTCTTAAACTTGCCTTATAAAATTATTCCTGG CCGGGCGTCGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGTTGAGG CAGGCGGATCACGAAGTCAGGAGATCGAGACCATCCTGGCTGACACGGTG AAACGCCGTCTCTACTAAAAAATACAAAAAAAATTAGCCGGGCATGGTGG CGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAATCCGGGAGGCGGAGGTTGCAGTGAGCC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0095 a0002c0002t0001g0095	1	396	0.0025	680	c.94- others(695): Show c.94-6236_94-6235insGGCTCACTGCAACCTCCGCCTCCCGGATTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC GCCACCATGCCCGGCTAATTTTTTTTGTATTTTTTAGTAGAGACGGCGTT TCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCT GCCTCAACCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACGACGCCCG GCCAGGAATAATTTTATAAGGCAAGTTTAAGAGTTTAGATTTTGGCCGGG CGCGGTGGCTCTCACCTGTAATCCCAGCACTTGGGAGGCTGAGGCGGCTG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGCAGCGGGCACCT GTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGG GAGGCGGAGCTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGG GGAACAGAGAGAACTCCATCTCAAAAAAAAAAAAAAAAAAAGAGTTTAGA TTTTATTTACAGGAGGCATGAACATTTTATTTATTTATTTATTTATTTTG AGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTC	ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding	1/5			chr19	TogoVar
ACER1_chr19_6301142_6338612	6318734	T T	TGAGATCG others(673): Show TGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATC TCAAAATAAATAAATAAATAAATAAAATGTTCATGCCTCCTGTAAATAAA ATCTAAACTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTTCTCTCTGTTC CCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCCGCCT CCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGTGCCCGCCGCCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAT GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCAGCCGCCTCAGCCTCCCAAGTGCTGGGATTACAGGTGAGAGCCACCGC GCCCGGCCAAAATCTAAACTCTTAAACTTGCCTTATAAAATTATTCCTGG CCGGGCGTCGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGTTGAGG CAGGCGGATCACGAAGTCAGGAGATCGAGACCATCCTGGCTGACACGGTG AAACGCCGTCTCTACTAAAAAATACAAAAAAAATTAGCCGGGCATGGTGG CGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAATCCGGGAGGCGGAGGTTGCAGTGAGCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA19030.hp2 HG02055.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0347 a0001c0003t0001g0362 a0001c0001t0001g0347 a0001c0003t0001g0362	2	396	0.0051	680	c.94- others(695): Show c.94-6236_94-6235insGGCTCACTGCAACCTCCGCCTCCCGGATTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC GCCACCATGCCCGGCTAATTTTTTTTGTATTTTTTAGTAGAGACGGCGTT TCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCT GCCTCAACCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACGACGCCCG GCCAGGAATAATTTTATAAGGCAAGTTTAAGAGTTTAGATTTTGGCCGGG CGCGGTGGCTCTCACCTGTAATCCCAGCACTTGGGAGGCTGAGGCGGCTG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGCGGCGGGCACCT GTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGG GAGGCGGAGCTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGG GGAACAGAGAGAACTCCATCTCAAAAAAAAAAAAAAAAAAAGAGTTTAGA TTTTATTTACAGGAGGCATGAACATTTTATTTATTTATTTATTTATTTTG AGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTC	ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding	1/5			chr19	TogoVar
AFF2_chrX_148495617_149005663	148581253	T T	TACGTATA others(673): Show TACGTATACGTATACACACATATACGTATACGTATACACACATATACGTA TACGTATACACACATATACGTATACGTATACACACATATACGTATACGTA TACACACATATACACGTATACGTATACGTATACACACATATACACGTATA CGTATACGTATACACACATATACACGTATATACGTATACGTGTACACACA TATACACGTATATACGTATACGTGTACACACACACGTATATACGTATACG TGTACACACACACGTATATACGTATACGTGTACACACACACGTATATACG TATACGTGTACACACACACGTATATACGTATACGTGTACACACACACGTA TATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACA CACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGTA CACACACACGTATATACGTATACGTGTACACACACACGTATATACGTATA CGTGTACACACACACGTATATACGTATACGTGTACACACACATACACGTA TACGTGTACACACACATACGTATACGTGTACACACACATACGTATACGTG TACACACACATACGTATACGTGTACACACACATACGTATACGTGTACACA CATATACACGTATACGTGTACACACATATAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0110 a0001c0001t0089g0110	1	169	0.0059	680	c.48- others(697): Show c.48-70736_48-70735insATACACACATATACGTATACGTATACAC ACATATACGTATACGTATACACACATATACGTATACGTATACACACATAT ACGTATACGTATACACACATATACACGTATACGTATACGTATACACACAT ATACACGTATACGTATACGTATACACACATATACACGTATATACGTATAC GTGTACACACATATACACGTATATACGTATACGTGTACACACACACGTAT ATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACAC ACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGTAC ACACACACGTATATACGTATACGTGTACACACACACGTATATACGTATAC GTGTACACACACACGTATATACGTATACGTGTACACACACACGTATATAC GTATACGTGTACACACACACGTATATACGTATACGTGTACACACACACGT ATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACAC ACATACACGTATACGTGTACACACACATACGTATACGTGTACACACACAT ACGTATACGTGTACACACACATACGTATACGTGTACACACACATACGTAT ACGTGTACACACATATACACGTATACGTGTACACACATATACACGTATAC GT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581275	T T	TACGTATA others(673): Show TACGTATACGTATACACACATATACGTATACGTATACACACATATACACG TATACGTATACACACATATACACGTATACGTATACACACATATACACGTA TACGTATACGTGTACACACATATACACGTATATACGTATACGTGTACACA CATATACACGTATATACGTATACGTGTACACACATATACACGTATATACG TATACGTGTACACACATATATATACACGTATATATACGTATACGTGTACA CACACACACGTATATATACGTATACGTGTACACACACACGTATATATACG TATACGTGTACACACACACGTATATATACGTATACGTGTACACACACACG TATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTA CACACACACGTATATACGTATACGTGTACACACACACACGTATATACGTA TACGTGTACACACACATACACGTATATACGTATACGTGTACACACATATA CGTATACGTGTACACACATATACACGTATACGTGTACACACATATACACG TATACGTGTACACACATATACACGTATACGTGTACACACATATACACGTA TACGTGTACACACATATACACGTATACGTGTACACACATATACACGTATA CGTGTACACACATATACACGTATACGTGTAC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18984.hp1 NA18995.hp1 NA18970.hp1 NA18984.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0065 a0001c0001t0067 a0001c0001t0001 a0001c0001t0065 a0001c0001t0067	a0001c0001t0001g0039 a0001c0001t0065g0056 a0001c0001t0067g0057 a0001c0001t0001g0039 a0001c0001t0065g0056 a0001c0001t0067g0057	3	169	0.0178	680	c.48- others(697): Show c.48-70722_48-70721insGTATACGTATACACACATATACGTATAC GTATACACACATATACACGTATACGTATACACACATATACACGTATACGT ATACACACATATACACGTATACGTATACGTGTACACACATATACACGTAT ATACGTATACGTGTACACACATATACACGTATATACGTATACGTGTACAC ACATATACACGTATATACGTATACGTGTACACACATATATATACACGTAT ATATACGTATACGTGTACACACACACACGTATATATACGTATACGTGTAC ACACACACGTATATATACGTATACGTGTACACACACACGTATATATACGT ATACGTGTACACACACACGTATATATACGTATACGTGTACACACACACGT ATATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACAC ACACACACGTATATACGTATACGTGTACACACACATACACGTATATACGT ATACGTGTACACACATATACGTATACGTGTACACACATATACACGTATAC GTGTACACACATATACACGTATACGTGTACACACATATACACGTATACGT GTACACACATATACACGTATACGTGTACACACATATACACGTATACGTGT ACACACATATACACGTATACGTGTACACACATATACACGTATACGTGTAC AC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AHRR_chr5_316714_443285	318049	C C	CCCTCCCC others(673): Show CCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCCT CTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCCC CTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCCA CCTCCCCCCTCACCTCCCCCCTCACCCTCCACCTCCCCCCGCACCCTGCA CCTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCAT CTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTC CCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCT CCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTCCCCCCCA GCCTCCACCTCCCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCACCTC CCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCTCCCACCCTGC ATCTCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCT CCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCT CCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTC CCCCCACCCTCCATCTGCCCCCAACCCTGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0026 a0001c0001t0045g0026	1	268	0.0037	680	c.-37 others(691): Show c.-3781_-3780insCCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGC ACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCC CCTCACCTCCCCCCCCTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCT CCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTCACCCTCCACCTC CCCCCGCACCCTGCACCTCCCCCCGCACCCTGCACCTCCCACCCTTACCC TGCACCTCCCCCCATCTTTTACCTCCCCCCTCACCCTGCACCTCCCTCTC GCCCTGCACCTCCTCCCTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTC CACGCCCCCTCACCTCCCCCCACCTTCCACCTCCCCCCTCCACCTCCCCC CTCACTTCCCCCCCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCTTC CGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACC TCCCTCCCACCCTGCATCTCCCCCAACCCTGCACCTCCCCCATCCTTCAC CTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCAC CCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCC CCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3664		chr5	TogoVar
AHRR_chr5_316714_443285	415440	C C	CTGCTGGG others(673): Show CTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGTGGGAGGCCTAG GGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTG GTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCT AGGGGCCGAGTCTGCCTGGTCGGCTGGGAGGCCTAGGGGCCGAATCTGCC TGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGC CTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTC CCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGTGGGAG GCCTAGGGGCCGAGTCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATC TCCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGG AGGCCTAGGGGCCGAGTCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAA TCTCCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCG GGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCGG AGTCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCTGC TGGGAGGCCTAGGGGCCGAATCTGCCTGGTG	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0121 a0002c0002t0001g0121	1	268	0.0037	680	c.441 others(697): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTCC CTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGG CCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCT GCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGCTGGGA GGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAAT CTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGG GAGGCCTAGGGGCCGAATCTCCCTGGTCTGCTGGGAGGCCTAGGGGCCGA ATCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCTGCT GGGAGGCCTAGGGGCCGAATCTCCCTGGTCTGCTGGGAGGCCTAGGGGCC GAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCTG CTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCTGCTGGGAGGCCTAGGGG CCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTC GGGCGGGAGGCCTAGGGGCGGAGTCTGCCTGGTCTGCTGGGAGGCCTAGG GGCCGAATCTCCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGG TG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10			chr5	TogoVar
AHRR_chr5_316714_443285	415512	T T	TGGGAGGC others(673): Show TGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGC CGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCG GCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGG GCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGT CGGGTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGTGGGAGGCCTAG GGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTG GTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCT AGGGGCCGAATCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCC TGGTGGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGAGGC CTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTG CCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGTGGGAG GCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATC TCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGG AGGCCTAGGGGCCGAATCTGCCTGGTGGGGC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0263 a0001c0001t0001g0253 a0001c0001t0001g0263	2	268	0.0075	680	c.441 others(697): Show c.441+2097_441+2098insATCTGCCTGGTGGGGCGGGAGGCCTAGG GGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGG TCGGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTA GGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAGTCTCCCT GGTCGGGTGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGTGGGAGGCC TAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGC CTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGG CCTAGGGGCCGAATCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCT GCCTGGTGGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGTGGGA GGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAAT CTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGTGG GAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGA ATCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGC GGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCC GA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415566	T T	TCTCCCTG others(673): Show TCTCCCTGGTCTGCTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCG GGAGGCCTAGGGGCCGAGTCTCCCTGGTCAGGCGGGAGGCCTAGGGGCCG AATCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGG TGGGAGGCCTAGGGGCCGAATCTCCCTGGTCTGCTGGGAGGCCTAGGGGC CGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGG GGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAGGG GCCGAGTCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGT CGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGCGGGAGGCCTAG GGGCCGAGTCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTG GTCGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGCGGGAGGCCT AGGGGCCGAGTCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCC TGGTGGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGC CTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTG CCTGGTCGGGCGGGAGGCCTAGGGGCCGAAC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0012 a0003c0004t0012	a0003c0004t0012g0110 a0003c0004t0012g0110	1	268	0.0037	680	c.441 others(697): Show c.441+2135_441+2136insCCCTGGTCTGCTGGGAGGCCTAGGGGCC GAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCAG GCGGGAGGCCTAGGGGCCGAATCTCCCTGGTCGGGCGGGAGGCCTAGGGG CCGAATCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTCCCTGGTC TGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGG GGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCTCCCTGG TCGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGCGGGAGGCCTA GGGGCCGAGTCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTCCCT GGTCGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGCGGGAGGCC TAGGGGCCGAGTCTCCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTCC CTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTCCCTGGTCGGGCGGGAGG CCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAATCT CCCTGGTCGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGA GGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAAC CT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG7_chr3_11267397_11562665	11487564	A A	AGACGGGG others(673): Show AGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCCCTCTC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCA GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCCGGGCG GGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCGGGCGGG GGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGG GTCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTC CCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCCCTC CCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0013 a0001c0002t0034g0013	1	292	0.0034	680	c.207 others(701): Show c.2079+60658_2079+60659insAGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGATGGCTGGGCGGGGGGCTGACACCCCCACCTCC CTCTCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCT GGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCAGGCC GGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGTCCGG GCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGTCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTC ACCTCCCAGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCT CCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGG CCGGGC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP10A_chr15_25673712_25868327	25758337	A A	ACTCATTC others(673): Show ACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCC ACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCCGACCACCTGCT CCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCA CCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTC CGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAACTCAT TCCGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTA ACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCTATCACC TGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCG ATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTC ATTCCGACCACCTGCTCCACCCTCATTCCGACCACCTGCTCCACCCTAAC TCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCAC CCTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTAACTCATTCCGATCACCTGCTCCACC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0015 a0015	a0015c0024 a0015c0024	a0015c0024t0001 a0015c0024t0001	a0015c0024t0001g0207 a0015c0024t0001g0207	1	300	0.0033	680	c.655 others(699): Show c.655-22197_655-22196insGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGG AATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGGTC GGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAG GTGATCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTG GAGCAGGTGATAGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATAGGAA TGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGA TCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGT GGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGA GCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAG GGTGGAGCAGGTGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAA TGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
C8orf82_chr8_144520733_144534111	144531191	A A	AGAGCAGC others(673): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACAT AGCAGGCACAGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGG GCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGT GGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAG GTGGGGAGTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCA GCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGG CAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAG GGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCA CGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACA TAGCAGGCACGGCAGAAGGGCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp2 NA19059.hp2 NA19090.hp2 NA18974.hp2 NA19059.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	3	398	0.0075	680	c.-22 others(691): Show c.-2276_-2275insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCTGTGCCTGCTATG TCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTG CCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCG TGCCTGCTGTGTCCAGTCCACACCCCACCTGCTGCTCCCTGCCCTGTGCC CTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2081		chr8	TogoVar
CALN1_chr7_71774491_72417338	72209190	T T	TTCCTTCC others(673): Show TTCCTTCCCTCCTTCCCTTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCC CTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCT CCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTTT CCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCC CTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCT CCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCC TTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCCTT CCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCGTCCTTCC CTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCT CCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCC TTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTT CCCTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCC TTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTT CCCTCCTTCCCTCCTTCCCTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02523.hp2 NA18975.hp2 HG01934.hp2 HG02523.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0024 a0001c0001t0005 a0001c0001t0006 a0001c0001t0024	a0001c0001t0005g0012 a0001c0001t0006g0017 a0001c0001t0024g0016 a0001c0001t0005g0012 a0001c0001t0006g0017 a0001c0001t0024g0016	3	142	0.0211	680	c.244 others(699): Show c.244+69495_244+69496insGGGAAGGAAGGAGGGAAGGAGGGAAG GAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAAGAGGGAAGGA GGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAG GAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGA GGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGG GAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGA AGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAG GAGGGAAGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGA GGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGG GAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAAGGA AGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAG GAGGGAAAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAGGAGG GAAGGAGGGAAGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGA AAGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAAGGGAAGGAGGGA AGGA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAPN11_chr6_44153820_44189401	44181712	C C	CACTCACA others(673): Show CACTCACATACAGACACAACCACACCACACACACACACACACACACTCAC AGACACAACCACACCACACACACATACACACTCACATACAGACACAACCA CACCACACTCACACATACACACTCACATACAGACACAACCACACCACACT CACACACACATACACACTCACATACAGACACAACCACACCACACTCACAC ACACACACATACACACTCACATACAGACACAACCACACCACACACACATA CACACTCACATACAGACACAACCACACCACACTCACACACACATACACAC TCACATACAGACAACCACACCACACTCACACACACATACACACTCACATA CAGACACAACCACACCACACTCACACACACACATACACACTCACATACAG ACACAACCACACCACACACACACACACTCACATACAGACACAACCACACC ACACTCACACATACACACATACAGACACAACCACACCACACTCACACACA CACATACACACTCACATACAGACACAACCACACCACACTCACACACACAC ACATACACACTCACATACAGACACAACCACACCACACACACACATACACA CTCACATACAGACACAACCACACCACACTCACACACACATACACACTCAC ATACAGACACAACCACACCACACACACACAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0421 a0001c0001t0001g0421	1	460	0.0022	680	c.193 others(697): Show c.1938+394_1938+395insTCACATACAGACACAACCACACCACACA CACACACACACACACTCACAGACACAACCACACCACACACACATACACAC TCACATACAGACACAACCACACCACACTCACACATACACACTCACATACA GACACAACCACACCACACTCACACACACATACACACTCACATACAGACAC AACCACACCACACTCACACACACACACATACACACTCACATACAGACACA ACCACACCACACACACATACACACTCACATACAGACACAACCACACCACA CTCACACACACATACACACTCACATACAGACAACCACACCACACTCACAC ACACATACACACTCACATACAGACACAACCACACCACACTCACACACACA CATACACACTCACATACAGACACAACCACACCACACACACACACACTCAC ATACAGACACAACCACACCACACTCACACATACACACATACAGACACAAC CACACCACACTCACACACACACATACACACTCACATACAGACACAACCAC ACCACACTCACACACACACACATACACACTCACATACAGACACAACCACA CCACACACACACATACACACTCACATACAGACACAACCACACCACACTCA CACACACATACACACTCACATACAGACACAACCACACCACACACACACAT AC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44181720	C C	CACATACA others(673): Show CACATACAGACACAACCACACCACACACACACACACACACACTCACAGAC ACAACCACACCACACACACATACACACTCACATACAGACACAACCACACC ACACTCACACATACACACTCACATACAGACACAACCACACCACACTCACA CACACATACACACTCACATACAGACACAACCACACCACACTCACACACAC ACACATACACACTCAGACACAACCACACCACACACACATACACACTCACA TACAGACACAACCACACCACACTCACACACACATACACACTCACATACAG ACAACCACACCACACTCACACACACATACACACTCACATACAGACACAAC CACACCACACTCACACACACACATACACACTCACATACAGACACAACCAC ACCACACACACACACACTCACATACAGACACAACCACACCACACTCACAC ATACACACATACAGACACAACCACACCACACTCACACACACACATACACA CTCACATACAGACACAACCACACCACACACACACACACACATACACACTC ACATACAGACACAACCACACCACACACACACATACACACTCACATACAGA CACAACCACACCACACTCACACACACATACACACTCACATACAGACACAA CCACACCACACACACACATACACACTCACAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	460	0.0022	680	c.193 others(697): Show c.1938+403_1938+404insTACAGACACAACCACACCACACACACAC ACACACACACTCACAGACACAACCACACCACACACACATACACACTCACA TACAGACACAACCACACCACACTCACACATACACACTCACATACAGACAC AACCACACCACACTCACACACACATACACACTCACATACAGACACAACCA CACCACACTCACACACACACACATACACACTCAGACACAACCACACCACA CACACATACACACTCACATACAGACACAACCACACCACACTCACACACAC ATACACACTCACATACAGACAACCACACCACACTCACACACACATACACA CTCACATACAGACACAACCACACCACACTCACACACACACATACACACTC ACATACAGACACAACCACACCACACACACACACACTCACATACAGACACA ACCACACCACACTCACACATACACACATACAGACACAACCACACCACACT CACACACACACATACACACTCACATACAGACACAACCACACCACACACAC ACACACACATACACACTCACATACAGACACAACCACACCACACACACACA TACACACTCACATACAGACACAACCACACCACACTCACACACACATACAC ACTCACATACAGACACAACCACACCACACACACACATACACACTCACATA CA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC183_chr9_136791338_136812741	136802875	T T	TGGGGGCC others(673): Show TGGGGGCCCCCCAAGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCAGGGGCCCTCCAG GGCGGGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCAGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCAGGGGCCCTCCAGGGCGGGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCAGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCAGGGGCCCTCCAGGGCGGGCCCTCTTGGATCTTCGGATGGG GTCAAGGTGAGCTCAGGGCCCAGGGCCAGGGGCTCTCCAGGGCGGGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCAGGGG CCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGA TGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0009 a0009	a0009c0007 a0009c0007	a0009c0007t0002 a0009c0007t0002	a0009c0007t0002g0113 a0009c0007t0002g0113	1	398	0.0025	680	c.666 others(695): Show c.666+101_666+102insAGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCAGGGGC CCTCCAGGGCGGGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCAGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCCAGGGGCCCTCCAGGGCGGGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCAG GGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGCCAGGGGCCCTCCAGGGCGGGCCCTCTTGGATCTTC GGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCAGGGGCTCTCCAGGGC GGGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CCAGGGGCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCA	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136803145	G G	GCCGGGGG others(673): Show GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGG GCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCT CAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGG ATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0330 a0001c0001t0002g0330	1	398	0.0025	680	c.666 others(695): Show c.666+360_666+361insCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGG GCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCT CAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGG ATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CD2AP_chr6_47472789_47632263	47505616	G G	GGGGGGCC others(673): Show GGGGGGCCGACCCCCCCCACCTCCCTCCCTGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCCGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACC TCCCTCCTGGACGAGGCGGCTGGCCGGGCGTGGGGCTGACACCCCCACCT CCCTCCTGGACAGGGCAGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCCACCT CCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCAACTCCCAGACGGGGCGGCTGG CCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGTTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGCGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCAGGC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0137 a0001c0001t0007g0137	1	322	0.0031	680	c.165 others(697): Show c.165+2181_165+2182insCCGACCCCCCCCACCTCCCTCCCTGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGACGGGGCCGCTGGCCGGGCAGGGGG GCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGG GGCTGACCCCCCCACCTCCCTCCTGGACGAGGCGGCTGGCCGGGCGTGGG GCTGACACCCCCACCTCCCTCCTGGACAGGGCAGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGG CCGACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAACTCC CAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCC GGACAGGGCGGTTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGG GGCGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGG GG	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDON_chr11_125951821_126067866	126065063	G G	GTGATAGT others(673): Show GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTAT TAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTA AGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAG AGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAG GTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGT GATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0300 a0001c0001t0083g0300	1	334	0.0030	680	c.-25 others(691): Show c.-2547_-2546insATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCAATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2198		chr11	TogoVar
CECR2_chr22_17364460_17563151	17524554	G G	GGCTAATT others(673): Show GGCTAATTTTTTGTATTGTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTTTTCTG TTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTTTCTTA GATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATAACAGA TCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATAAGTGT ATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGATTTGGC TTTTTTAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTGGCTAA GAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAAAGTTA CTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACTCCGTCTC GGTTTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGTCTCACTGCAA GCTCCGCATCCCGGGTTCTCGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCACCCACTACCACGCCCA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0262 a0001c0001t0015g0262	1	324	0.0031	680	c.110 others(697): Show c.1108+299_1108+300insGTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTT TTCTGTTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTT TCTTAGATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATA ACAGATCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATA AGTGTATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGAT TTGGCTTTTTTAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTG GCTAAGAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAA AGTTACTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACTCC GTCTCGGTTTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCGTCTCAC TGCAAGCTCCGCATCCCGGGTTCTCGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCACCCACTACCACGCCCAGCTAATTTTTTGTA TT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(673): Show ATATTTATTTAATATATAAAATAAATATTTATTTTATATATAAAATAAAT ATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATA TTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATT TATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTT ATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTT TAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTAAT ATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTTAT TTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	402	0.0025	680	c.80- others(695): Show c.80-5002_80-5001insAATATATAAAATAAATATTTATTTTATATA TAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTAATATAT AAAATAAATATTTATTTTAATATTAAAATAAATATTTATTTTATATATAA AATAAATATTTATTTAATATATAAAATAAATATTTATTTTAATATATAAA ATAAATATTTATTTTAATATATAAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATA TTTATTTTATTTATTTATTTTAATATATAAAATATTTTATTTATTTATTT	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(673): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGGGGGAGGAGGGGGAGCTGGGGAG GGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGGG AGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAG GAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAG GGGGAGCTGGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAG CTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCT GGGGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGAGCAGGGGA GGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGG GGAGGAGGGGGAGCTGGGGAGGGGAGGAGGGGGAGCAGGGGAGGGGGGAG GAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAG GGAGAGCAGGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGG GGAGCTGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGA GCAGGGGAGGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGC AGTGGAGGGGGGAGAAGAGGAGGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0008 a0004c0010t0008	a0004c0010t0008g0046 a0004c0010t0008g0046	1	168	0.0060	680	c.-26 others(689): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCACTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCCTCCCCTGCTCCCC CTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTC CTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCCTGCTCTCCCTCCT CCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCC CCCTCCCCTGCTCCCCCTCCTCCCCTCCCCAGCTCCCCCTCCTCCCCTCC CCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCC TGCTCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCCCCAGCTC CCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCC CCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCCAGCTCCCCCTCCT CCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCC CCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCC TCCCCTGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCC CAGCTCCCCCTCCTCCCCCCCCTGCTCCCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(673): Show TCTCTCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCC TCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCTCTCCCCCATCCCCCTCC CCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTC TCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTC TCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCTCCCTCA CGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCT CTCCCCCTCCTCCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCT TCCCCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTT CCTCTCCCTCTCCCTCCCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCT CTCTCCCTCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCC TCCCCCTCTCCTCCTCTCCCTCTCTCCGTCCCCCCTCCTCCTCTCCCTCT CTCCCTCTTCCCCATCTCCCCCCTTCTCCTCTCCCCCTCCCTCTCTCCCT CTCTCCCCCTCCCCCTCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02630.hp2 HG02818.hp2 others(2): Show HG02451.hp2 HG02630.hp2 HG02818.hp2 HG02897.hp2 HG03471.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0021 a0004c0004t0003 a0004c0004t0021	a0004c0004t0003g0119 a0004c0004t0003g0185 a0004c0004t0003g0192 others(2): Show a0004c0004t0003g0119 a0004c0004t0003g0185 a0004c0004t0003g0192 a0004c0004t0003g0193 a0004c0004t0021g0152	5	320	0.0156	680	c.380 others(697): Show c.380-7767_380-7766insCCCCCTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCTCT CCCCCATCCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCC CTCCCCCTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCC CTCACATCCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTC TCTCCCTCTCCCTCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCC CCTTCCTCTCCCCCTCTCCCCCTCCTCCTCCCTCTCTCCCTCTTCCCCTC TCCCCCTCTCCCTCTTCCCCTCTCCCCATCTCCCTCTCCCCCCCTTCTCC CTCTCCCACCCTCTTCCTCTCCCTCTCCCTCCCCCTCTCCCTTCTCTCCC TCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCTCTTCTCCTCT CCCCCTCTCCCCCCCTCCCCCTCTCCTCCTCTCCCTCTCTCCGTCCCCCC TCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCCCCCCTTCTCCTCTCCC CCTCCCTCTCTCCCTCTCTCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCT CC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
COL21A1_chr6_56051590_56252580	56098116	T T	TATATAAA others(673): Show TATATAAATATATATAAATATATATGTAAATATATAAATATATATAAATA TATATGTAAATATATAAATATATATAAATAAATATATATAAATATATATA AATATAAATATATATATAAATATGTAATTCTAAATATATATGTAAATATA TATAAATATAAATATATTTATAAATATATAAATATATAAATATATATAAA AATATATATAAATATATAAAAAAATATAAATATATATAAATATATAAATA TATATAAATATATATATAAATATATATATAAATATATATATAAATATATA TATAAATATATATATAAATATATATAAATATATAACTATATAAATAAATA TATATAAATATATAAATATATAAAAATATATATAAATATATATGTAAATA TATAAATATATATAAATATATATAAATATATATAAGTATATAAATATATA TAAATATATATAAGTATATAAATATATATATAAATATATATAAGTATATA AATATATATATAAATATATATAAGTATATAAATATATATAAATATATATA AGTATATAAATATATATATAAATATATATAAGTATATATAAATATATATA AATATATATAAGTATATATAAATATATAAAAATATATATAAGTATATATA AATATATATAAATATATATAAATATATGCAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0100 a0002c0008t0001g0100	1	264	0.0038	680	c.181 others(699): Show c.1812+3355_1812+3356insTTGCATATATTTATATATATTTATAT ATATTTATATATACTTATATATATTTTTATATATTTATATATACTTATAT ATATTTATATATATTTATATATACTTATATATATTTATATATATATTTAT ATACTTATATATATTTATATATATTTATATACTTATATATATTTATATAT ATATTTATATACTTATATATATTTATATATATATTTATATACTTATATAT ATTTATATATATTTATATACTTATATATATTTATATATATTTATATATAT TTATATATTTACATATATATTTATATATATTTTTATATATTTATATATTT ATATATATTTATTTATATAGTTATATATTTATATATATTTATATATATAT TTATATATATATTTATATATATATTTATATATATATTTATATATATATTT ATATATATTTATATATTTATATATATTTATATTTTTTTATATATTTATAT ATATTTTTATATATATTTATATATTTATATATTTATAAATATATTTATAT TTATATATATTTACATATATATTTAGAATTACATATTTATATATATATTT ATATTTATATATATTTATATATATTTATTTATATATATTTATATATTTAC ATATATATTTATATATATTTATATATTTACATATATATTTATATATATTT ATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL22A1_chr8_138583235_138919041	138692270	T T	TTGTGGAG others(673): Show TTGTGGAGGTGTGTGTATGTGTGTAATGTGTGTATGCATGTTTGTGGAGG TGTATGTGTGGAGGTGTGTGTGTATGTGTGCAGTGCATGTGTGCATGTTT GTGGAGGTGTATGCATGCGTGTGCATTTGTGAAGGTGTGTGAGTGAGTGT GTGCACGTTTGTGGAGGTGTGTGTGCACGTGTGTGTGTGCATGTTTGTGG AGGTGTGTGTATGTGTGTAATGTGTGTATGCATGTTTGTGGAGGTGTATG TGTGGAGTTGTGTGTGTATGTGTGCAGTGCATGTGTGCATGTTTGTGGAG GTGTATGCATGCGTGTGCATTTGTGAAGGTGTGTGTGTGCACGTTTGTGG AGGTGTGTGTGCACGTGTGTGTGTTTGTGGAGGTGTGTATATGTGTACAC ATGCGTGTGTGCACGTTTGTGGAGGTGTGTGTGTGTACGTGTGTGTGCAT GTTTGTGGTGGTATGTGTATGTGTGGAGGTGTGTATGTGTGCACGTGCAT GTGTGCATGTTTGTGGAGGTGTATGTGTGCACGTGCATGCACATTTGTGG ACGTGTGTGCGTGTGTGTGCATGTTTGTGGAGGTGTGTGTGCGCGTGCGT GTATGCATGTTTGTGGAGGTGTGTGTGTGTACATGTGTGTATGCATGTTT GTGGAGGTGTATGTGTGGAGGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp2 HG02809.hp1 HG02809.hp2	a0001 a0001	a0001c0008 a0001c0010 a0001c0008 a0001c0010	a0001c0008t0001 a0001c0010t0001 a0001c0008t0001 a0001c0010t0001	a0001c0008t0001g0041 a0001c0010t0001g0128 a0001c0008t0001g0041 a0001c0010t0001g0128	2	158	0.0127	680	c.275 others(699): Show c.2754+1375_2754+1376insTACACACACACCTCCACACATACACC TCCACAAACATGCATACACACATGTACACACACACACCTCCACAAACATG CATACACGCACGCGCACACACACCTCCACAAACATGCACACACACGCACA CACGTCCACAAATGTGCATGCACGTGCACACATACACCTCCACAAACATG CACACATGCACGTGCACACATACACACCTCCACACATACACATACCACCA CAAACATGCACACACACGTACACACACACACCTCCACAAACGTGCACACA CGCATGTGTACACATATACACACCTCCACAAACACACACACGTGCACACA CACCTCCACAAACGTGCACACACACACCTTCACAAATGCACACGCATGCA TACACCTCCACAAACATGCACACATGCACTGCACACATACACACACAACT CCACACATACACCTCCACAAACATGCATACACACATTACACACATACACA CACCTCCACAAACATGCACACACACACGTGCACACACACCTCCACAAACG TGCACACACTCACTCACACACCTTCACAAATGCACACGCATGCATACACC TCCACAAACATGCACACATGCACTGCACACATACACACACACCTCCACAC ATACACCTCCACAAACATGCATACACACATTACACACATACACACACCTC CACA	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	35/64			chr8	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(673): Show CAGTTTATAGATGATATGGGGGTAGGGAGGGGGGTGCAGTTGATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGG CGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGC AGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAAT ATGGGGGCGGGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCA GAGTGTAGTTTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAG ATAATATGGAGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGG GGTAGGGGAGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGT ACTTTATAGATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAA TATGGGGGCGGGGCAGGGGGTGCAATTTATAGATAATATGAGGGTGGGGC AGGGGTGCAGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTT ATAGATAATATGGGGGTGGGGTAGGGGGTGT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0262 a0001c0003t0004g0262	1	272	0.0037	680	c.109 others(699): Show c.109+14824_109+14825insGATATGGGGGTAGGGAGGGGGGTGCA GTTGATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGCGGGGCGGGGGTGTAGCTTATAGATAATATG GGGGCAGGGCCAGAGTGTAGTTTATAGATAATATGGAGGCGGGGCGGGGG TACAGTTTATAGATAATATGGAGGCGGGGCGGGGGTGTAGTTTATAGGTA ATATGGAGGTGGGGTAGGGGAGTGCAGTGTATAGATAATATGGGGGGCGG GGCAGGGGGTGTACTTTATAGATAATATGGGGGGCGGGGTAGGGGGTGTA GTTTATAGATAATATGGGGGCGGGGCAGGGGGTGCAATTTATAGATAATA TGAGGGTGGGGCAGGGGTGCAGTTTGTAGATAATATGGGGGGCAGGGCAG GGGGTGCAGTTTATAGATAATATGGGGGTGGGGTAGGGGGTGTAGTTTAT AGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CPNE7_chr16_89570758_89602246	89597938	C C	CCCCCGCC others(673): Show CCCCCGCCCACCCATCCGTCCACCCATCCCCCCGCCCACCCATCTGTCCA CCCATCCGTCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCGTCC ACCCATCCCCCCGCCCACCCATCTGTCCACCCATCCCCCCGCCCACCCAT CTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACCC ATCCATCCACCCATCCCCCCACCCACCCATCCGTCCACCCATCCCCCCGC CCACCCATCCGTCCACCCATCCCCCCGCCCACCCATCTGTCCACCCATCC GTCCATCCATCCCCCCACCCACCCATCTGTCCACCCATCCCCCCGCCCAC CCATCCGTCCACCCACCCATCTGTCCACCCATCTGTCCACCCATCCGTCC ACCCATCCATCCACCCATTCCCCCACCCACCCATCCATCCATCCCCCCAC CCACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACCCATCC CCCCACCCACCCGTCCGTCCATCCATCCCCCCACCCACCCATCCATCCAC CCATCCCCCCACCCACCCATCTGTCCACCCATCTGTCCACCCATCCGTCC ACCCATCCCCCCACCCATCCGTCCACCCATCCGTCCACTCACCCATCCGT CCACTCACCCATCTGTCCACCCATTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0318	1	348	0.0029	680	c.13 others(691): Show c.1317_*1318insCCCCGCCCACCCATCCGTCCACCCATCCCCCCGC CCACCCATCTGTCCACCCATCCGTCATCCATCCCCCCACCCACCCATCTG TCCACCCATCCGTCCACCCATCCCCCCGCCCACCCATCTGTCCACCCATC CCCCCGCCCACCCATCTGTCCACCCATCCGTCCATCCATCCCCCCACCCA CCCATCTGTCCACCCATCCATCCACCCATCCCCCCACCCACCCATCCGTC CACCCATCCCCCCGCCCACCCATCCGTCCACCCATCCCCCCGCCCACCCA TCTGTCCACCCATCCGTCCATCCATCCCCCCACCCACCCATCTGTCCACC CATCCCCCCGCCCACCCATCCGTCCACCCACCCATCTGTCCACCCATCTG TCCACCCATCCGTCCACCCATCCATCCACCCATTCCCCCACCCACCCATC CATCCATCCCCCCACCCACCCATCCATCCACCCATCCCCCCACCCACCCA TCTGTCCACCCATCCCCCCACCCACCCGTCCGTCCATCCATCCCCCCACC CACCCATCCATCCACCCATCCCCCCACCCACCCATCTGTCCACCCATCTG TCCACCCATCCGTCCACCCATCCCCCCACCCATCCGTCCACCCATCCGTC CACTCACCCATCCGTCCACTCACCCATCTGTCCACCCATTCCCCCG	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding		693		chr16	TogoVar

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Search Results (Total: 10000 hits)