Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
FAM174C_chr19_1270530_1284228	1282354	A A	AGGGGAGG others(668): Show AGGGGAGGGTAGTATGAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGG GAAAGGGAGGAAGGAGAGAGGAAGGGAGGAGGGAGGGGAAGGTGTGAAGG GAAGGAGGGAGGGGAGATGGGAGGGAAGTAGGGAGGGGAGGGAGGGGAAA GGTGTGAAGGGAAGAGGGAGGGGAGGTGGGAGGGGAGGAGGGAGGGAGGG AGGAGGGTGTGAAGGGAGGAGGGGGGAGGGTGTGAAGGGAAGAGGGAGGG GAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGT GAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGG AGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGG GAGGAGGGAGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGG AGGAGGGTGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAGGGTGTG AAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAGGAGGGAG GGAGGAGGGTGTGAAGGGGAAAGAGGGAGGGGAGGATTGGAAAGGGGAGG AAGGTGTAAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGTATTAATGGGGA AGAGAGTGGGAAGGGGGAGGAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	254	0.0039	675	c.35 others(686): Show c.3577_*3578insGGGGAGGGTAGTATGAAGGGGGAAGGAAGGAGGG AGGGGAGAAGGGTGGGAAAGGGAGGAAGGAGAGAGGAAGGGAGGAGGGAG GGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGATGGGAGGGAAGTAGGGAG GGGAGGGAGGGGAAAGGTGTGAAGGGAAGAGGGAGGGGAGGTGGGAGGGG AGGAGGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGGGGAGGGTGTGA AGGGAAGAGGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGG AGGGGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGAGGGAGGAGGGT GTGAAGGGAGGAGGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGG AGGGAGGGGAGGAGGGAGGAGGGAGGAGAGGAGGGTGTGAAGGGAGGAAG GAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGAGAGGAGGG AGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGTGT GAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGGAAAGAGGGAGGGGAGG ATTGGAAAGGGGAGGAAGGTGTAAAAGAGGGAGAGAGGAAGGAAGGGAGG GGGTATTAATGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAG		FAM174C	ENSG00000228300.14	transcript	ENST00000409293.6	protein_coding					3127		chr19	TogoVar
FHIT_chr3_59742277_61256452	60551540	G G	GGAGGAGG others(668): Show GGAGGAGGGGAGATGGGAGGGGGGGAGGAGGGGAGGGGAGGAGGGGAGGG GAGGGGAAGAAGGGGAGGGGAGGAGGGGAGGGGAGGGGAAGAAGGGGAGG GGAGGAGGGGAGGGGAAGAAGGGGAGGGGAGGAGGGGAGGGGAGGGGAAG AAGGGGAGGGGAGGAGGGGAGGGGAGGGGAAGAAGGGGAGGGGAGGGGAG GGGAGCGGGGAGGAGGGGAGGGGGAGGAGGGGAGGGGAGGGGAGGGGGAG GAGGAGAGGGGAGGGGAGCGGGGAGGAGGGGAGGGGGAGGAGGGGAGGGG GAGGAGGGGAGGGGGGGGAGGGGAGGGGGAGGAGGGGAGGGGGGGGGAGG GGAGGGGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGGGAGGGGGAGG AGGGGAGGGGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGGGAGGGGGAGG GGAGCGGGGAGGAGGGGAGGGGGAGGAGGGGAGGGGAGGGGAGGGGAGCG GGGAGGAGGGGAGGGGGAGGAGGGGAGGGGAGGGGAGGGGAGCGGGGAGG AGGGGAGGGGGGAGGAGGGGAGGGGGGGGGAGGGGAGGGGGAGGAGGGGA GGGGGAGGAGGGGAGGGGGGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGG GGAGGGGAGGGGGAGGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0039 a0001c0001t0006g0039	1	46	0.0217	675	c.-17 others(694): Show c.-17-14562_-17-14561insTCCCCCTCCCCCTCCCCCTCCCCTCC CCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCCCCCCTCCCCTCCTCCCCC TCCCCTCCTCCCCCTCCCCTCCCCCCCCCTCCCCTCCTCCCCCCTCCCCT CCTCCCCGCTCCCCTCCCCTCCCCTCCCCTCCTCCCCCTCCCCTCCTCCC CGCTCCCCTCCCCTCCCCTCCCCTCCTCCCCCTCCCCTCCTCCCCGCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCCCCTCCCCT CCTCCCCCTCCCCTCCCCCTCCCCTCCTCCCCCTCCCCTCCTCCCCCTCC CCTCCCCCCCCCTCCCCTCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCTC CCCCTCCCCTCCTCCCCCTCCCCTCCTCCCCGCTCCCCTCCCCTCTCCTC CTCCCCCTCCCCTCCCCTCCCCTCCTCCCCCTCCCCTCCTCCCCGCTCCC CTCCCCTCCCCTCCCCTTCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTT CTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTTCTTCCCCTCCCCTCCTCC CCTCCCCTTCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTTCTTCCCCTC CCCTCCCCTCCTCCCCTCCCCTCCTCCCCCCCTCCCATCTCCCCTCCTC		FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	4/9						chr3	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATGTAT others(668): Show GTATGTATATTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATTTATATACATATAAATATATATTTATATACA TATAAATATATATATTTATATACATATAAATATATATTTATATACATATA AATATATATATTTATATACATATAAATATATATTTACATACATATAAATA TATATTTACATACATATAAATATATACATTTATATACATATAAATATATA CATATATACATATAAATATATATTTATATACATATAAATATATATTTATA TACATATAAATATATATATTTATATATATTTATATATATATAAATATATA TATATTTGTATATATATATAAATATATATATATTTATATATATATAAATA TATATATATATTTATATATATATACATATAAATATATATTTATATACATA TAAATATATAATTATATACATATAAATATATAATTATATACATATAAATA TATATAATTATATACATATAAATATATATTTATATACATATAAATTTATA TACATATAAATATAAATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA19074.hp2 NA18961.hp2 NA19074.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0010 a0001c0001 a0003c0010	a0001c0001t0002 a0003c0010t0001 a0001c0001t0002 a0003c0010t0001	a0001c0001t0002g0073 a0003c0010t0001g0268 a0001c0001t0002g0073 a0003c0010t0001g0268	2	292	0.0069	675	c.49 others(686): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATATTTATA TATATATAAATATATATATATTTATATATATATACAAATATATATATATT TATATATATATAAATATATATAAATATATATATTTATATGTATATAAATA TATATTTATATGTATATAAATATATATTTATATGTATATATGTATATATT TATATGTATATAAATGTATATATTTATATGTATGTAAATATATATTTATA TGTATGTAAATATATATTTATATGTATATAAATATATATATTTATATGTA TATAAATATATATTTATATGTATATAAATATATATATTTATATGTATATA AATATATATTTATATGTATATAAATATATATTTATATGTATATAAATATA TATTTATATGTATATAAATATATATTTATATGTATATAAATATATATATT TATATGTATATAAATATATATTTATATGTATATAAATATATATATTTATA TGTATATAAATATATATATTTATATGTATATAATATACATA		FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding					4182		chr13	TogoVar
FUT7_chr9_137025174_137037088	137034336	G G	GGGGGGTT others(668): Show GGGGGGTTTGGAGGGAGGGGGGCTGGAGGGAGGGGGCTTGGAGGGAGGGG GTTTGGGGAGGCTAAAGGGAGGGGAACTTGGAAGGAGGGGGGTTTGGAGG GAGAGGGGTTTGGAGGGAGGGTGGCTTGGAGGGAGGGGGGTTTGGAGGGA GGGGGCTTGGAGAGAGGGGGGTTTGGAGGGAGGGGGCTGGAGGGAGGGGA GCTTGGAGGGGAGCTTGGAGGGGGTTCGGAGGGGGGGCTTGGAGGGAGGG GAGTTTGGAGGGAGGGGAGCTTGGAGGGAGGGGGGTTTAGAGGGAGGGAG CTGGAGGGAGGGGAGCTTGGAGGGGAGCTTGGAGGGAGGGGGTTCGGAGG GGGGACTTGGAGGGAGGGGGCTTGGAGGGAGGGGGGCTTGGAGGGAGGGG GGCTTGGAGGGAGGGGAGTTTGGAGGGAGGGGGCTGGAGGGAGGGGAGCT TGGTGGGGAGCTTGGAGGGAGGGGAGCTTGGAAGGAGGGGGGTTTGGAGG GAGGGGGTTTGGAGGGAGGGCGGCTTGGAGGGAGGGGGGTTTGGAGGGGG GGGCTTGGAGAGGGGGGTTTGGAAGGAGGGGACGAGGGAGGGGAGCTTGG AGGGGAGCTTGGAGGGAGGGGGTTCGGAGTGGGGGCTTGGAGGGAGGGGG CTTGGAGGGAGGGGGGCTTGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03688.hp1 NA19082.hp1 HG03239.hp1 HG03688.hp1 NA19082.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0012 a0001c0001 a0009c0012	a0001c0001t0001 a0009c0012t0001 a0001c0001t0001 a0009c0012t0001	a0001c0001t0001g0001 a0009c0012t0001g0025 a0001c0001t0001g0001 a0009c0012t0001g0025	3	358	0.0084	675	c.-23 others(686): Show c.-2346_-2345insTCCCTCCAAGCCCCCCTCCCTCCAAGCCCCCTCC CTCCAAGCCCCCACTCCGAACCCCCTCCCTCCAAGCTCCCCTCCAAGCTC CCCTCCCTCGTCCCCTCCTTCCAAACCCCCCTCTCCAAGCCCCCCCCTCC AAACCCCCCTCCCTCCAAGCCGCCCTCCCTCCAAACCCCCTCCCTCCAAA CCCCCCTCCTTCCAAGCTCCCCTCCCTCCAAGCTCCCCACCAAGCTCCCC TCCCTCCAGCCCCCTCCCTCCAAACTCCCCTCCCTCCAAGCCCCCCTCCC TCCAAGCCCCCCTCCCTCCAAGCCCCCTCCCTCCAAGTCCCCCCTCCGAA CCCCCTCCCTCCAAGCTCCCCTCCAAGCTCCCCTCCCTCCAGCTCCCTCC CTCTAAACCCCCCTCCCTCCAAGCTCCCCTCCCTCCAAACTCCCCTCCCT CCAAGCCCCCCCTCCGAACCCCCTCCAAGCTCCCCTCCAAGCTCCCCTCC CTCCAGCCCCCTCCCTCCAAACCCCCCTCTCTCCAAGCCCCCTCCCTCCA AACCCCCCTCCCTCCAAGCCACCCTCCCTCCAAACCCCTCTCCCTCCAAA CCCCCCTCCTTCCAAGTTCCCCTCCCTTTAGCCTCCCCAAACCCCCTCCC TCCAAGCCCCCTCCCTCCAGCCCCCCTCCCTCCAAACCCCC		FUT7	ENSG00000180549.8	transcript	ENST00000314412.7	protein_coding					2249		chr9	TogoVar
GALNT9_chr12_132191372_132334589	132241358	G G	GGGGCCCT others(668): Show GGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCCGGGAC CCTCCCTATACCAATTACACACACAACACACACCCTTCCAGGGGCCCTCC CTATACCCATTACACACATGCCACACCCCCTTCCCAGGGCCCTCCCTATC CCCATTACACACACAACACACCCCCTTCCAGGGGCCCTCCCTATACCCAT TACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACAC ACACACCACACACCCTTCCAGGGGCCCTCCCTATACCCATTACACACACG CCACACACCCTTCCCTTGGCCGTCCCTATACCCATTACACACACGCCACA CCACCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACACCC TTACAGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCT GGGGACCTCCCTATACCCATTACACACACGCCACACACCCTTCCCGGGGC CCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCAGGGACCTCC CTATCCCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATA CCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCAT TACACACACGCCACACCCCCTTCCCA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0176 a0001c0008t0002g0176	1	183	0.0055	675	c.107 others(694): Show c.1077+6551_1077+6552insTGGGAAGGGGGTGTGGCGTGTGTGTA ATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGG TATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGGATAG GGAGGTCCCTGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGG GCCCCGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGTCCCC AGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGTAA GGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGTGG TGTGGCGTGTGTGTAATGGGTATAGGGACGGCCAAGGGAAGGGTGTGTGG CGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGGTGTGT GTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTA ATGGGTATAGGGAGGGCCCCTGGAAGGGGGTGTGTTGTGTGTGTAATGGG GATAGGGAGGGCCCTGGGAAGGGGGTGTGGCATGTGTGTAATGGGTATAG GGAGGGCCCCTGGAAGGGTGTGTGTTGTGTGTGTAATTGGTATAGGGAGG GTCCCGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCC		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALNT9_chr12_132191372_132334589	132242468	C C	CCACACCC others(668): Show CCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACAACACA CCCCCTTCCCGGGGCCTTCCCTATACCCATTACACACACGCCACACCCCC TTCCAGGGGCCCTCCCTATACCCATTACACACACAACACACCCCCTTCCC GGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGAGC CCTCCCTATACCCATTACACACACACCACACCCCCTTCCAGGGGCCCTCC CTATACCCATTACACACACAACACACACCCTTCCCGGGGCCCTCCCTATA CCCATTACACACACACCACACACCCTTCCCGGGGCCCTCCCTATACCCAT TACACACACAACACACACCCTTCCCGGGGCCCTCCCTATACCCATTACAC ACACACCACACCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACA ACACACCCCCTTCCCGGGGCCTTCCCTATACCCATTACACACACGCCACA CCCCCTTCCAGGGGCCCTCCCTATACCCATTACACACACAACACACCCCC TTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCC GGAGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCAGGGGC CCTCCCTATACCCATTACACACACAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	183	0.0055	675	c.107 others(694): Show c.1077+5441_1077+5442insTTGTGTGTGTAATGGGTATAGGGAGG GCCCCTGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCTCC GGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAA GGGGGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGGG TGTGGCGTGTGTGTAATGGGTATAGGGAAGGCCCCGGGAAGGGGGTGTGT TGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGTGTGT GTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGTTGTGTGTGTA ATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGGTGTGTGTGTAATGGG TATAGGGAGGGCCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAG GGAGGGCCCCTGGAAGGGGGTGTGGTGTGTGTGTAATGGGTATAGGGAGG GCTCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCC GGGAAGGGGGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAA GGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAAGGCCCCGGGAAGGGGG TGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTG		GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10						chr12	TogoVar
GALR1_chr18_77244848_77282900	77252941	C C	CCATCACC others(668): Show CCATCACCACCACCATCACCATCACCACCACCACCACCACCACCACCACC ACCACCACCACCACCATCACCACCACCACCATCACCACCATCACCACCAC CACCATCACCACCACCACCACCACCACCATCACCACCACCATCACCATCA CCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACC ACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCACCAC CACCATCACCACCACCATCACCACCATCACCACCACCACCACCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCATCACCACCACCACCACCACCATCACCACCATCAC CACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCATCA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCATCACC ACCATCACCACCACCACCACCACCACCACCATCACCACCATCACCACCAC CACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ATCACCACCACCATCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0112 a0001c0001t0003g0112	1	366	0.0027	675	c.666 others(692): Show c.666+1729_666+1730insTCACCACCACCATCACCATCACCACCAC CACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCA TCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCATC ACCACCACCATCACCATCACCACCACCACCACCACCACCACCACCACCAC CACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCATCA CCACCACCACCACCACCACCACCATCACCACCACCATCACCACCATCACC ACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCATCACCACCACCACCA CCACCATCACCACCATCACCACCACCACCACCACCACCACCATCACCACC ATCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCAC CACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCA TCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCAC CACCACCACCACCACCACCATCACCACCACCATCACCACCACCATCA		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr18	TogoVar
GAS6_chr13_113815549_113869076	113817317	T T	TCCTCCCC others(668): Show TCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCC CTCCCCCCACGGGACACATCCCTCCTCCCCCCACGGGACACATACCCCCT CCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCC CCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCT CCAGGGAACACATCCCCCCTCCCTCCCTCGGGACACATCCCCCCTCCCCC CACGGGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCA GGGGACACATCCCCCCTCCCCCCCACGGGACACATCCCCCCCTCCCCCCA CGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGG GGACACATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCAGGGG ACACATACCCCCTCCCTCCAGGGGACACATACCCCCTCCCTCCAGGGGAC ACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACAC ATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACAT ACCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCC CCCCTCCCTCCAGGGGACACATCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	143	0.0070	675	c.35 others(686): Show c.3546_*3547insGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGC CCCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGTATGTGTCC CGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCC TGGAGGGAGGGGGGATGTGCCCCGAGGAGGGAGGGGGGATGTGTCCCCTG GAGGGAGGGGGTATGTGTCCCCTGGAGGGAGGGGGTATGTGTCCCCTGGG GGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCCTGGAGG GAGGGGGGATGTGCCCCGAGGAGGGAGGGGGGATGTGTCCCGTGGGGGGA GGGGGGGATGTGTCCCGTGGGGGGGAGGGGGGATGTGTCCCCTGGAGGGA GGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGG GGGGATGTGTCCCGAGGGAGGGAGGGGGGATGTGTTCCCTGGAGGGAGGG GGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGG GATGTGTCCCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGTA TGTGTCCCGTGGGGGGAGGAGGGATGTGTCCCGTGGGGGGAGGGGGTATG TGTCCCGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGG		GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding					3231		chr13	TogoVar
GAS6_chr13_113815549_113869076	113817328	C C	CGGGACAC others(668): Show CGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCCCCACG GGACACATCCCTCCTCCCCCCCACGGGACACATACCCCCCTCCCTCCAGG GGACACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGG ACACATCCCCCCTCCCTCCAGGGGACACATCCCCCCTCCCTCCAGGGGAC ACATCCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCACGGGACAC ATCCCCCCTCCCCCCACGGGACACATCCCCCCTCCCTCCAGGGGACACAT CCCCCCTCCCTCCTCGGGACACATCCCCCCTCCCCCCCACGGGACACATC CCCCCTCCCTCCAGGGGACACATCCCCCCTCCCCCCACGGGACACATCCC CCCTCCCCCCACGGGACACATACCCCCTCCCTCCAGGGGACACATCCCCC CTCCCTCCTCGGGGCACATCCCCCCTCCCTCCAGGGGACACATCCCCCCT CCCCCCACGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCC CTCCAGGGGACACATCCCCCCTCCCTCCTCGGGGCACATCCCCCCTCCCT CCAGGGGACACATCCCCCCTCCCCCCACGGGACACATACCCCCTCCCTCC AGGGGACACATCCCCCCTCCCTCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0023 a0001c0003t0001g0023	1	143	0.0070	675	c.35 others(686): Show c.3535_*3536insATGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAG GGGGTATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCCTGGAGGGAGGG GGGATGTGCCCCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGG TATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGA TGTGTCCCCTGGAGGGAGGGGGGATGTGCCCCGAGGAGGGAGGGGGGATG TGTCCCCTGGAGGGAGGGGGTATGTGTCCCGTGGGGGGAGGGGGGATGTG TCCCGTGGGGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGTC CCGTGGGGGGGAGGGGGGATGTGTCCCGAGGAGGGAGGGGGGATGTGTCC CCTGGAGGGAGGGGGGATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCCG TGGGGGGAGGGGGGATGTGTCCCGAGGAGGGAGGGGGGATGTGTCCCCTG GAGGGAGGGGGGATGTGTCCCCTGGAGGGAGGGGGGATGTGTCCCGTGGG GGGAGGGGGGATGTGTCCCGAGGAGGGAGGGGGGATGTGTCCCCTGGAGG GAGGGGGGTATGTGTCCCGTGGGGGGGAGGAGGGATGTGTCCCGTGGGGG GAGGGGGTATGTGTCCCGTGGGGGGAGGGGGGATGTGTCCC		GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding					3220		chr13	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(668): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTG TGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGCC CCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCC GTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCAACCACACTGCCCGTGTGGCTGCCCCTGGCCCCGTGCCCTTCTCC CCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCC CGCCCCTCCCCTCCCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	422	0.0024	675	c.31 others(686): Show c.3125_*3126insGCGGGGGGGGGGGGAGGGGAGGGGCGGGGCGGGG CGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGG GCACGGGGCCAGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGG GGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGG CCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGG GGGCAGCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGG GCAGCCACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCA CACGGGCAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACAC GGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGG GCAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCA GTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTG TGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTG GTTGGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTG GGGGGGAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC		GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding					2447		chr16	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(668): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTG TGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTC CCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCC CCGCCCCTCCCCTCCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	422	0.0024	675	c.31 others(686): Show c.3125_*3126insGCGGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGC GGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGG CACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGG GCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGC CGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGG GGCAGCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGG CAGCCACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCAC ACGGGCAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACG GGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGG CAGTGTGTTTGGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCA GTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTG TGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTG GTTGGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTG GGGGGGAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC		GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding					2447		chr16	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(668): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTC CCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCC CCGCCCCTCCCCTCCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0017	1	422	0.0024	675	c.31 others(686): Show c.3125_*3126insGCGGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGC GGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGG CACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGG GCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGC CGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGG GGCAGCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGG CAGCCACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCAC ACGGGCAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACG GGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGG CAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAG TGTGTTTGGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTG TGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTG GTTGGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTG GGGGGGAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC		GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding					2447		chr16	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(668): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCGTG TGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCG GCCCCTTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCC GTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCC CCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCC CCGCCCCTCCCCTCCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	675	c.31 others(686): Show c.3125_*3126insGCGGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGC GGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGCAC GGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCC GGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGG GGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGGCACGGGGCCGGGGG CAGCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCAAGGGGCCGGGGGCA GCCACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACAC GGGCAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGG CAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCA GTGTGTTTGGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGT GTGTTTGGGGGGGCGGGCACGGGGCCGGGGGGCAGCCACACGGGCAGTGT GGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGG TTGGGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTG GGGGGGAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC		GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding					2447		chr16	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(668): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGTCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCT CCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGC CCCGCCCCTCCCCTCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	422	0.0024	675	c.31 others(686): Show c.3125_*3126insGCGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGCG GCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGC ACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGG CCGGGGGCAGCCACACGGACAGTGTGGTTGGGGGAGAAGGGCACGGGGCC GGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGG GCAGCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGC AGCCACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACA CGGGCAGTGTGTTTGGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACG GGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGG CAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAG TGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGT GGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGG TTGGGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTG GGGGGGAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC		GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding					2447		chr16	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(668): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCGTG TGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCC GGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC CCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCC CCGCCCCTCCCCTCCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	675	c.31 others(686): Show c.3125_*3126insGCGGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGC GGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACG GGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCG GGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGG GGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGGCACGGGGCCGGGGGC AGCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAG CCACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACG GGCAGTGTGTTTGGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGG CAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCA GTGTGTTTGGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGT GTGTTTGGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGT GGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGG TTGGGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTG GGGGGGAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC		GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding					2447		chr16	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(668): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCGTG TGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCTGTGCTGCCCGTGTGGCTGCCCC CGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC CCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCC CCGCCCCTCCCCTCCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	675	c.31 others(686): Show c.3125_*3126insGCGGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGC GGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACG GGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCG GGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGG GGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGGGCA GCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGC CACACGGGCAGCACAGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACG GGCAGTGTGTTTGGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGG CAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCA GTGTGTTTGGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGT GTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTG GTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGT TGGGGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTG GGGGGGAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC		GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding					2447		chr16	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(668): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCGTG TGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCC GGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC CCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCC CCGCCCCTCCCCTCCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	675	c.31 others(686): Show c.3125_*3126insGCGGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGC GGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACG GGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCG GGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGG GGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGGCACGGGGCCGGGGGC AGCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAG CCACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACG GGCAGTGTGTTTGGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGG CAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCA GTGTGTTTGGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGT GTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTG GTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGT TGGGGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTG GGGGGGAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC		GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding					2447		chr16	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(668): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTG TGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCGCCCCCCCTGTGCTGCCCGTGTGGCTGCCCCC GGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC CCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCC CCGCCCCTCCCCTCCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	675	c.31 others(686): Show c.3125_*3126insGCGGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGC GGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACG GGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCG GGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGG GGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGGCACGGGGCCGGGGGC AGCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAG CCACACGGGCAGCACAGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACAC GGGCAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGG CAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCA GTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTG TGTTTGGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTG GTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGT TGGGGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTG GGGGGGAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC		GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding					2447		chr16	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(668): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTG TGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCC GTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC CCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCC CCGCCCCTCCCCTCCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	675	c.31 others(686): Show c.3125_*3126insGCGGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGC GGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACG GGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGCACGGGGCC GGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGG GGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGGCACGGGGCCGGGGG CAGCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCA GCCACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACAC GGGCAGTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGG CAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCA GTGTGTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTG TGTTTGGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTG GTTGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGT TGGGGGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTG GGGGGGAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC		GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding					2447		chr16	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(668): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCCAAACAC ACTGCCCGTGTGGCTTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCAACCACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCC CGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC CCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCC CCGCCCCTCCCCTCCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	675	c.31 others(686): Show c.3125_*3126insGCGGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGC GGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACG GGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCG GGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGG GGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGGGCA GCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGC CACACGGGCAGCACAGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGG GCAGTGTGTTTGGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGC AGTGTGGTTGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGT GTGTTTGGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGT GTTTGGGGGGGCGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGT TGGGGGAGAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTG GGGGGGGGGGGCACGGGGCCGGGGGCAAGCCACACGGGCAGTGTGTTTGG GGGGGGAGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGC		GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding					2447		chr16	TogoVar
HAUS2_chr15_42543838_42574994	42557401	T T	TATATATA others(668): Show TATATATAGTATATATTTTATATATAGTATATATTTTATATATAGTATAT ATTTTATATATAATATATATTTTATATATAATATATATATTTTATATATA ATATATATTATATATATATTATATAAAATATATAATATATATTATATATA TATTATATAAAATATATAATATATATTTTATATATATCATATATTTTATA TATAATATATATTTTATATATATCATATATTTTATATATAATATATATTA TATATACATTATATAATATATATTATATTATATACATTATATATTATATA ATATATATTATATATTATACGTAATATATAATGTATATTATATATAATAT ATTATGTATATAATGTATATTATATATAATATACATTATATATAATGTAT ATTATATGTAATATACACATTATATATAATGTATATTATATGTAATATAC ACATTATATATAATGTATATTATATGTAATATACACATTATATATAATGT ATATTATATGTAATATACACATTATATATAATGTATATTATATGTAATAT ATACATTATATATAATGTATATTATATGTAATATATACATTATATATAAT GTATATTATATGTAATATATACATTATATAATGTATATTATATGTAATAT ATACATTATATAATGTATATTATATA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0297 a0001c0002t0004g0297	1	350	0.0029	675	c.94- others(688): Show c.94-790_94-789insGTATATATTTTATATATAGTATATATTTTATA TATAGTATATATTTTATATATAATATATATTTTATATATAATATATATAT TTTATATATAATATATATTATATATATATTATATAAAATATATAATATAT ATTATATATATATTATATAAAATATATAATATATATTTTATATATATCAT ATATTTTATATATAATATATATTTTATATATATCATATATTTTATATATA ATATATATTATATATACATTATATAATATATATTATATTATATACATTAT ATATTATATAATATATATTATATATTATACGTAATATATAATGTATATTA TATATAATATATTATGTATATAATGTATATTATATATAATATACATTATA TATAATGTATATTATATGTAATATACACATTATATATAATGTATATTATA TGTAATATACACATTATATATAATGTATATTATATGTAATATACACATTA TATATAATGTATATTATATGTAATATACACATTATATATAATGTATATTA TATGTAATATATACATTATATATAATGTATATTATATGTAATATATACAT TATATATAATGTATATTATATGTAATATATACATTATATAATGTATATTA TATGTAATATATACATTATATAATGTATATTATATAATATATA		HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr15	TogoVar
HAUS2_chr15_42543838_42574994	42557401	T T	TATATATA others(668): Show TATATATAGTATATATTTTATATATATTATATATTTTATATATAGTATAT ATTTTATATATAATATATATTTTATATATAATATATATATTTTATATATA ATATATATTATATATATATTATATAAAATATATAATATATATTATATATA TATTATATAAAATATATAATATATATTTTATATATATCATATATTTTATA TATAATATATATTTTATATATATCATATATTTTATATATAATATATATTA TATATACATTATATAATATATATTATATTATATACATTATATATTATATA ATATATATTATATATTATACGTAATATATAATGTATATTATATATAATAT ATTATGTATATAATGTATATTATATATAATATACATTATATATAATGTAT ATTATATGTAATATACACATTATATATAATGTATATTATATGTAATATAC ACATTATATATAATGTATATTATATGTAATATACACATTATATATAATGT ATATTATATGTAATATACACATTATATATAATGTATATTATATGTAATAT ATACATTATATATAATGTATATTATATGTAATATATACATTATATATAAT GTATATTATATGTAATATATACATTATATAATGTATATTATATGTAATAT ATACATTATATAATGTATATTATATA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02280.hp2 HG02615.hp1 others(6): Show HG01496.hp2 HG02280.hp2 HG02615.hp1 HG02647.hp2 HG03130.hp2 HG03139.hp2 HG03579.hp2 HG06807.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0004 a0001c0002t0004g0296 a0001c0002t0004g0299 others(3): Show a0001c0002t0004g0004 a0001c0002t0004g0296 a0001c0002t0004g0299 a0001c0002t0004g0301 a0001c0002t0004g0305 a0001c0002t0004g0308	9	350	0.0257	675	c.94- others(688): Show c.94-790_94-789insGTATATATTTTATATATATTATATATTTTATA TATAGTATATATTTTATATATAATATATATTTTATATATAATATATATAT TTTATATATAATATATATTATATATATATTATATAAAATATATAATATAT ATTATATATATATTATATAAAATATATAATATATATTTTATATATATCAT ATATTTTATATATAATATATATTTTATATATATCATATATTTTATATATA ATATATATTATATATACATTATATAATATATATTATATTATATACATTAT ATATTATATAATATATATTATATATTATACGTAATATATAATGTATATTA TATATAATATATTATGTATATAATGTATATTATATATAATATACATTATA TATAATGTATATTATATGTAATATACACATTATATATAATGTATATTATA TGTAATATACACATTATATATAATGTATATTATATGTAATATACACATTA TATATAATGTATATTATATGTAATATACACATTATATATAATGTATATTA TATGTAATATATACATTATATATAATGTATATTATATGTAATATATACAT TATATATAATGTATATTATATGTAATATATACATTATATAATGTATATTA TATGTAATATATACATTATATAATGTATATTATATAATATATA		HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr15	TogoVar
HAUS2_chr15_42543838_42574994	42557401	T T	TATATATA others(668): Show TATATATAGTATATATTTTATATATATTATATATTTTATATATAGTATAT ATTTTATATATAATATATATTTTATATATAATATATATATTTTATATATA ATATATATTATATATATATTATATAAAATATATAATATATATTATATATA TATTATATAAAATATATAATATATATTTTATATATATCATATATTTTATA TATAATATATATTTTATATATATCATATATTTTATATATAATATATATTT TATATACATTATATAATATATATTATATTATATACATTATATATTATATA ATATATATTATATATTATACGTAATATATAATGTATATTATATATAATAT ATTATGTATATAATGTATATTATATATAATATACATTATATATAATGTAT ATTATATGTAATATACACATTATATATAATGTATATTATATGTAATATAC ACATTATATATAATGTATATTATATGTAATATACACATTATATATAATGT ATATTATATGTAATATACACATTATATATAATGTATATTATATGTAATAT ATACATTATATATAATGTATATTATATGTAATATATACATTATATATAAT GTATATTATATGTAATATATACATTATATAATGTATATTATATGTAATAT ATACATTATATAATGTATATTATATA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0306 a0001c0002t0004g0306	1	350	0.0029	675	c.94- others(688): Show c.94-790_94-789insGTATATATTTTATATATATTATATATTTTATA TATAGTATATATTTTATATATAATATATATTTTATATATAATATATATAT TTTATATATAATATATATTATATATATATTATATAAAATATATAATATAT ATTATATATATATTATATAAAATATATAATATATATTTTATATATATCAT ATATTTTATATATAATATATATTTTATATATATCATATATTTTATATATA ATATATATTTTATATACATTATATAATATATATTATATTATATACATTAT ATATTATATAATATATATTATATATTATACGTAATATATAATGTATATTA TATATAATATATTATGTATATAATGTATATTATATATAATATACATTATA TATAATGTATATTATATGTAATATACACATTATATATAATGTATATTATA TGTAATATACACATTATATATAATGTATATTATATGTAATATACACATTA TATATAATGTATATTATATGTAATATACACATTATATATAATGTATATTA TATGTAATATATACATTATATATAATGTATATTATATGTAATATATACAT TATATATAATGTATATTATATGTAATATATACATTATATAATGTATATTA TATGTAATATATACATTATATAATGTATATTATATAATATATA		HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr15	TogoVar
HAUS2_chr15_42543838_42574994	42557401	T T	TATATATA others(668): Show TATATATAGTATATATTTTATATATATTATATATTTTATATATAGTATAT ATTTTATATATAATATATATTTTATATATAATATATATATTTTATATATA ATATATATTATATATATATTATATAAAATATATAATATATATTATATATA TATTATATAAAATATATGATATATATTTTATATATATCATATATTTTATA TATAATATATATTTTATATATATCATATATTTTATATATAATATATATTA TATATACATTATATAATATATATTATATTATATACATTATATATTATATA ATATATATTATATATTATACGTAATATATAATGTATATTATATATAATAT ATTATGTATATAATGTATATTATATATAATATACATTATATATAATGTAT ATTATATGTAATATACACATTATATATAATGTATATTATATGTAATATAC ACATTATATATAATGTATATTATATGTAATATACACATTATATATAATGT ATATTATATGTAATATACACATTATATATAATGTATATTATATGTAATAT ATACATTATATATAATGTATATTATATGTAATATATACATTATATATAAT GTATATTATATGTAATATATACATTATATAATGTATATTATATGTAATAT ATACATTATATAATGTATATTATATA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0307 a0001c0002t0004g0307	1	350	0.0029	675	c.94- others(688): Show c.94-790_94-789insGTATATATTTTATATATATTATATATTTTATA TATAGTATATATTTTATATATAATATATATTTTATATATAATATATATAT TTTATATATAATATATATTATATATATATTATATAAAATATATAATATAT ATTATATATATATTATATAAAATATATGATATATATTTTATATATATCAT ATATTTTATATATAATATATATTTTATATATATCATATATTTTATATATA ATATATATTATATATACATTATATAATATATATTATATTATATACATTAT ATATTATATAATATATATTATATATTATACGTAATATATAATGTATATTA TATATAATATATTATGTATATAATGTATATTATATATAATATACATTATA TATAATGTATATTATATGTAATATACACATTATATATAATGTATATTATA TGTAATATACACATTATATATAATGTATATTATATGTAATATACACATTA TATATAATGTATATTATATGTAATATACACATTATATATAATGTATATTA TATGTAATATATACATTATATATAATGTATATTATATGTAATATATACAT TATATATAATGTATATTATATGTAATATATACATTATATAATGTATATTA TATGTAATATATACATTATATAATGTATATTATATAATATATA		HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr15	TogoVar
HAUS2_chr15_42543838_42574994	42557401	T T	TATATATA others(668): Show TATATATAGTATATATTTTATATATATTATATATTTTATATATAGTATAT ATTTTATATATAATATATATTTTATATATAATATATATATTTTATATATA ATATATATTATATATATATTATATAAAATATATAATATATATTTTATATA TATTATATAAAATATATAATATATATTTTATATATATCATATATTTTATA TATAATATATATTTTATATATATCATATATTTTATATATAATATATATTA TATATACATTATATAATATATATTATATTATATACATTATATATTATATA ATATATATTATATATTATACGTAATATATAATGTATATTATATATAATAT ATTATGTATATAATGTATATTATATATAATATACATTATATATAATGTAT ATTATATGTAATATACACATTATATATAATGTATATTATATGTAATATAC ACATTATATATAATGTATATTATATGTAATATACACATTATATATAATGT ATATTATATGTAATATACACATTATATATAATGTATATTATATGTAATAT ATACATTATATATAATGTATATTATATGTAATATATACATTATATATAAT GTATATTATATGTAATATATACATTATATAATGTATATTATATGTAATAT ATACATTATATAATGTATATTATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0303 a0001c0002t0004g0303	1	350	0.0029	675	c.94- others(688): Show c.94-790_94-789insGTATATATTTTATATATATTATATATTTTATA TATAGTATATATTTTATATATAATATATATTTTATATATAATATATATAT TTTATATATAATATATATTATATATATATTATATAAAATATATAATATAT ATTTTATATATATTATATAAAATATATAATATATATTTTATATATATCAT ATATTTTATATATAATATATATTTTATATATATCATATATTTTATATATA ATATATATTATATATACATTATATAATATATATTATATTATATACATTAT ATATTATATAATATATATTATATATTATACGTAATATATAATGTATATTA TATATAATATATTATGTATATAATGTATATTATATATAATATACATTATA TATAATGTATATTATATGTAATATACACATTATATATAATGTATATTATA TGTAATATACACATTATATATAATGTATATTATATGTAATATACACATTA TATATAATGTATATTATATGTAATATACACATTATATATAATGTATATTA TATGTAATATATACATTATATATAATGTATATTATATGTAATATATACAT TATATATAATGTATATTATATGTAATATATACATTATATAATGTATATTA TATGTAATATATACATTATATAATGTATATTATATAATATATA		HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr15	TogoVar
HPCAL1_chr2_10297904_10432604	10399538	C C	CCACCACC others(668): Show CCACCACCATCACCACCACCATCATCACCACCATCACCACCACCATCACC ACCACCATCACCATCACCATCACCATCACCATCATCACCGCCACCACCAC CACCATCACCACCACCATCACCATCACCACCACCATCATCACCACCATCA TCACCACCATCACCACCACCATCACCATCACCACCACCATCATCACCACC ACCACCACCGCCACCACCACCGCCACCACCACCACCATCACCACCACCAC CACCACCACCATCACCACCACCATCATCACCACCATCACCACCACCACCA TCACCACCACCACCACCATCACCACCACCATCACCATCATCACCGCCACC ACCACCACCATCACCACCACCATCACCATCACCACCACCATCATCACCAC CATCATCACCGCCGCCACCACCACCACCACCGCCGCCGCCGCCGCCACTG CCGCCACCACCACCACCATCACCATCATCACCGCCGCCACCACCACCACC ATCACCACCACAACCACCACCACCACCATCACCACCACTACCATCACCAC CACCATCACCACCACTACCATCATCACCACCACCACCACCACCACCATCA CCACCACCACCACCATCACCATCACCACCACCACCACCATCACCATCATC ACCACCATCACCGCCACCATCACCAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp1 HG02615.hp1 others(4): Show HG01891.hp1 HG02280.hp1 HG02615.hp1 HG02976.hp1 HG03041.hp1 HG03516.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0286 others(4): Show a0001c0001t0003g0069 a0001c0001t0003g0071 a0001c0001t0003g0286 a0001c0001t0003g0294 a0001c0001t0003g0301 a0001c0001t0011g0148 a0001c0001t0011g0149	7	314	0.0223	675	c.-25 others(692): Show c.-25+2623_-25+2624insCCATCACCACCACCATCATCACCACCAT CACCACCACCATCACCACCACCATCACCATCACCATCACCATCACCATCA TCACCGCCACCACCACCACCATCACCACCACCATCACCATCACCACCACC ATCATCACCACCATCATCACCACCATCACCACCACCATCACCATCACCAC CACCATCATCACCACCACCACCACCGCCACCACCACCGCCACCACCACCA CCATCACCACCACCACCACCACCACCATCACCACCACCATCATCACCACC ATCACCACCACCACCATCACCACCACCACCACCATCACCACCACCATCAC CATCATCACCGCCACCACCACCACCATCACCACCACCATCACCATCACCA CCACCATCATCACCACCATCATCACCGCCGCCACCACCACCACCACCGCC GCCGCCGCCGCCACTGCCGCCACCACCACCACCATCACCATCATCACCGC CGCCACCACCACCACCATCACCACCACAACCACCACCACCACCATCACCA CCACTACCATCACCACCACCATCACCACCACTACCATCATCACCACCACC ACCACCACCACCATCACCACCACCACCACCATCACCATCACCACCACCAC CACCATCACCATCATCACCACCATCACCGCCACCATCACCATCACCA		HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
HS3ST6_chr16_1906475_1923415	1920388	A A	AGTCCCCA others(668): Show AGTCCCCACAGTCTCAGCTATCCCCATGGTCTCAGCCATCCCCGTGGTCT CAGCAGGTCCCCATGGTCTCAGGAGTCCCCACGGTCTCAGCCGTCCCCAC GGTCTCAGCAGTCCCCCACGGTCTCAGCCGTCCCCACGGTCTCAGGAGTC CCCACGGACTCAGCCGTCCCCAGGGTCTCAGCCATCCCCAGGGGTCTCAG CCGTCCCCACGGTCCAGCCGTCCCCCACCGTCTCAGCAGTCCCCACGGTC TCAGCCGTCCCCATGGTCTCAGCAGTCCCCACGGTCTCAGGAGTCCCCAC GGTCTCAGCAGTCCCCCACGGTCTCAGCCGTCCCCACCGTCTCAGGAGTC CCCACCATCTCAGCCGTCCCCACGGTCTCAGGAGTCCCCCATGGTCTCAA CCGTCTCCACGGTCTCAGGAGTCCCCACGGTCTCAGTCATCCCCACGGTC CCAGCCGTCCCCACGGTCCAAGCCGTCCCCACGGTCCCAGCCGTCCCCCA CGGTCTCAGCCGTCCCCACGGTCTCCGCAGTCCCCACGGTCTCAGCCATC CCCACGGTCTCAGGAGTCCCCATGGTCTCAGCCGTCCCCACGGTCTCAGA AGTCCCCACGGTCTCAGCCGTCCCCCACGGTCTCAGGAGCCCCCCACGGT CTCAGGCCGTCCCCATGGTCTCAGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	433	0.0023	675	c.-20 others(686): Show c.-2066_-2065insGACTGAGACCATGGGGACGGCCTGAGACCGTGGG GGGCTCCTGAGACCGTGGGGGACGGCTGAGACCGTGGGGACTTCTGAGAC CGTGGGGACGGCTGAGACCATGGGGACTCCTGAGACCGTGGGGATGGCTG AGACCGTGGGGACTGCGGAGACCGTGGGGACGGCTGAGACCGTGGGGGAC GGCTGGGACCGTGGGGACGGCTTGGACCGTGGGGACGGCTGGGACCGTGG GGATGACTGAGACCGTGGGGACTCCTGAGACCGTGGAGACGGTTGAGACC ATGGGGGACTCCTGAGACCGTGGGGACGGCTGAGATGGTGGGGACTCCTG AGACGGTGGGGACGGCTGAGACCGTGGGGGACTGCTGAGACCGTGGGGAC TCCTGAGACCGTGGGGACTGCTGAGACCATGGGGACGGCTGAGACCGTGG GGACTGCTGAGACGGTGGGGGACGGCTGGACCGTGGGGACGGCTGAGACC CCTGGGGATGGCTGAGACCCTGGGGACGGCTGAGTCCGTGGGGACTCCTG AGACCGTGGGGACGGCTGAGACCGTGGGGGACTGCTGAGACCGTGGGGAC GGCTGAGACCGTGGGGACTCCTGAGACCATGGGGACCTGCTGAGACCACG GGGATGGCTGAGACCATGGGGATAGCTGAGACTGTGGGGAC		HS3ST6	ENSG00000162040.7	transcript	ENST00000454677.3	protein_coding					1974		chr16	TogoVar
IFFO2_chr1_18899280_18961676	18926013	A A	ATGGTTGG others(668): Show ATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGAT GGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATG GATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGTTGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGG ATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGA TGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATTGGTTGGTTGGTTGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATTGGATGGATTGGTTGGATGGATGGATGGATGGATG GATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0060 a0001c0001t0018g0060	1	376	0.0027	675	c.666 others(692): Show c.666-4893_666-4892insATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCA TCCATCCATCCATCCATCCAACCAATCCATCCAATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATC CAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCC ATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAACCATC CATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCA TCCATCCAACCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCA		IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8						chr1	TogoVar
IQSEC1_chr3_12892043_13078429	12896683	T T	TCTGCCAG others(668): Show TCTGCCAGTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTATT TATTTTTTTTTTATTGATCATTCTTGGGTGTTTCTCGCAGAGGGGGATTT GGCAGGGTCATAGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTG AACAAAGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGTCCTTGGCCTT CCGCAGTGTTTGTGTCCCTGGGTACTTAAGATTAGGGAGTGGTGATGACT CTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGC ACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAG AGCACAGGGTTGGGGATAAGGTCACAGATCAACAGGATCCCAAGGCAGAA GAATTTTTCTTAGTACAGAACAAAATGAAAAGTCTCCCATGTCTACTTCT ATCCACAGAGACCCGGCAACCATCCGATTTCTCAATTTTTTCCCCACCCT TCCCGCCTTTCTATTCCACAAAACCACCATTGTCATCATGGCCCATCCCC AATGAGCCGCTGGGCACACCTCCCAGACGGGGTCGTGGCCGGGCAGAGGG GCCCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAAGCGCCCCTCACCTCC CGGATGGGGCGGCTGGCCGGGCCGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0035 a0004c0005t0035	a0004c0005t0035g0062 a0004c0005t0035g0062	1	250	0.0040	675	c.42 others(686): Show c.4299_*4300insCCCGGCCCGGCCAGCCGCCCCATCCGGGAGGTGA GGGGCGCTTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGGGCCCCTCTGC CCGGCCACGACCCCGTCTGGGAGGTGTGCCCAGCGGCTCATTGGGGATGG GCCATGATGACAATGGTGGTTTTGTGGAATAGAAAGGCGGGAAGGGTGGG GAAAAAATTGAGAAATCGGATGGTTGCCGGGTCTCTGTGGATAGAAGTAG ACATGGGAGACTTTTCATTTTGTTCTGTACTAAGAAAAATTCTTCTGCCT TGGGATCCTGTTGATCTGTGACCTTATCCCCAACCCTGTGCTCTCTGAAA CATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGATG TGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATCA CCACTCCCTAATCTTAAGTACCCAGGGACACAAACACTGCGGAAGGCCAA GGACGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTT TATCTGCTGACCTTCCCTCCACTATTGTCCTATGACCCTGCCAAATCCCC CTCTGCGAGAAACACCCAAGAATGATCAATAAAAAAAAAATAAATAAATT AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAACTGGCAG		IQSEC1	ENSG00000144711.17	transcript	ENST00000613206.2	protein_coding					359		chr3	TogoVar
ISOC2_chr19_55447985_55466642	55449123	C C	CCACACAC others(668): Show CCACACACCACACACACCACACACATACACCACACATGCACCACACACAC ACCACACACACCACACACACACCACACATACACCACACACCTCACACACA TCACACAGCCCACACACCACACACTGCACACACCGCACACACACACCAAC ATACCACACACCAGAGACACACACGACACACCACACACAGACCACACACA CCACACACACCACACACACACCCCACACACCACAAACACCCCACACACTC CACACACTGCACACACCGCACACGCCGCACATGCCACACACACCACACAC CACACACACACCACACTGCACACACTGCACACACCACACACCCCACATAC CACATTCACACACCACACACCACACATACCACATTCACACACCACACATA CCACACACACCACACACACCCCAGACACTGCACACACTGTACACACCACA CACACCCCACACACCACACACAGTGCACAAACCACACACCACACACACAC CACACCACACCCCCCACACATAACCATACACAGACCACACATACACACAC CACACACCACACATACCACACACACCAGATACACACACACCACATACCAC ACACACACAAACCACACAACACACACACACATACACACCACAAGCACACC ACACACACACAAACCACAAACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	380	0.0026	675	c.41 others(686): Show c.4184_*4185insTGTGTGTTTGTGGTTTGTGTGTGTGTGGTGTGCT TGTGGTGTGTATGTGTGTGTGTGTTGTGTGGTTTGTGTGTGTGTGGTATG TGGTGTGTGTGTATCTGGTGTGTGTGGTATGTGTGGTGTGTGGTGTGTGT ATGTGTGGTCTGTGTATGGTTATGTGTGGGGGGTGTGGTGTGGTGTGTGT GTGGTGTGTGGTTTGTGCACTGTGTGTGGTGTGTGGGGTGTGTGTGGTGT GTACAGTGTGTGCAGTGTCTGGGGTGTGTGTGGTGTGTGTGGTATGTGTG GTGTGTGAATGTGGTATGTGTGGTGTGTGGTGTGTGAATGTGGTATGTGG GGTGTGTGGTGTGTGCAGTGTGTGCAGTGTGGTGTGTGTGTGGTGTGTGG TGTGTGTGGCATGTGCGGCGTGTGCGGTGTGTGCAGTGTGTGGAGTGTGT GGGGTGTTTGTGGTGTGTGGGGTGTGTGTGTGGTGTGTGTGGTGTGTGTG GTCTGTGTGTGGTGTGTCGTGTGTGTCTCTGGTGTGTGGTATGTTGGTGT GTGTGTGCGGTGTGTGCAGTGTGTGGTGTGTGGGCTGTGTGATGTGTGTG AGGTGTGTGGTGTATGTGTGGTGTGTGTGTGGTGTGTGTGGTGTGTGTGT GGTGCATGTGTGGTGTATGTGTGTGGTGTGTGTGGTGTGTG		ISOC2	ENSG00000063241.8	transcript	ENST00000425675.7	protein_coding					3861		chr19	TogoVar
KLHL15_chrX_23978720_24032186	23982660	C C	CAAAAAAA others(668): Show CAAAAAAAAAAAAAAAAAAAAGTGGATGATGGAGGTAGATGATCAGAAAG CTCCAGAAGGCCAGCAAGAAGGACAAGGGTCTGAACTAGGACAGTATGGA TGGAAAGGAGAGGGCAGTTGAGAGTTTAAAGTGCTAGAACTGGATGAACT AAAATGTTGGGGTTAAGTGGGAGAGAGACATGCCGAGGTTATACATGAAC AATTGTAGGCAATGGTAAAGCCAGATAATACAGAGAAGATAAGTGGCATG TTTTGGGGGAGTAGACAATGTATTCAGATTTGCACTTGTTCAGTTTGAAA TTCCAATACAACAGTGAGAGATGTTCAGGAGATGGTTGGAACTCTGCGTT GAGAAATACAGATATGATGGGTATCAGAATAAAAGTTGTAGGCTGGGTGC AGTGGCTCACACCTGTAACCCCAACACGTTGGGAGGCCGAACGGGTGGAT CATCTGAGGTCAGGAGTTCGAGACCAGCCTGTCCAACATGGTGAAACCCC GTCTCTACTAAAAATACAAAATTACCTGGGCATGGTGGCACATGCACCTG TAATCCCAGCTACTTGGGATGCTGAAGCAGGAGAATCACTTGAACCCAGA AGGTGGAGGTTGCAGTGAGCCAAGACCACACCACTGCATTCCAGCCAGAG CAAGGCTCTGTCTAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp1 NA19012.hp1 NA19078.hp2 NA18978.hp1 NA19012.hp1 NA19078.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0012 a0001c0001t0001 a0002c0004t0012	a0001c0001t0001g0088 a0001c0001t0001g0269 a0002c0004t0012g0024 a0001c0001t0001g0088 a0001c0001t0001g0269 a0002c0004t0012g0024	3	286	0.0105	675	c.52 others(686): Show c.5260_*5261insTTTTTTTTTTTTTAGACAGAGCCTTGCTCTGGCT GGAATGCAGTGGTGTGGTCTTGGCTCACTGCAACCTCCACCTTCTGGGTT CAAGTGATTCTCCTGCTTCAGCATCCCAAGTAGCTGGGATTACAGGTGCA TGTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTTC ACCATGTTGGACAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCC GTTCGGCCTCCCAACGTGTTGGGGTTACAGGTGTGAGCCACTGCACCCAG CCTACAACTTTTATTCTGATACCCATCATATCTGTATTTCTCAACGCAGA GTTCCAACCATCTCCTGAACATCTCTCACTGTTGTATTGGAATTTCAAAC TGAACAAGTGCAAATCTGAATACATTGTCTACTCCCCCAAAACATGCCAC TTATCTTCTCTGTATTATCTGGCTTTACCATTGCCTACAATTGTTCATGT ATAACCTCGGCATGTCTCTCTCCCACTTAACCCCAACATTTTAGTTCATC CAGTTCTAGCACTTTAAACTCTCAACTGCCCTCTCCTTTCCATCCATACT GTCCTAGTTCAGACCCTTGTCCTTCTTGCTGGCCTTCTGGAGCTTTCTGA TCATCTACCTCCATCATCCACTTTTTTTTTTTTTTTTTTTT		KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding					1059		chrX	TogoVar
KLHL15_chrX_23978720_24032186	23982660	C C	CAAAAAAA others(668): Show CAAAAAAAAAAAAAAAAAAAGTGGATGATGGAGGTAGATGATCAGAAAGC TCCAGAAGGCCAGCAAGAAGGACAAGGGTCTGAACTAGGACAGTATGGAT GGAAAGGAGAGGGCAGTTGAGAGTTTAAAGTGCTAGAACTGGATGAACTA AAATGTTGGGGTTAAGTGGGAGAGAGACATGCCGAGGTTATACATGAACA ATTGTAGGCAATGGTAAAGCCAGATAATACAGAGAAGATAAGTGGCATGT TTTGGGGGAGTAGACAATGTATTCAGATTTGCACTTGTTCAGTTTGAAAT TCCAATACAACAGTGAGAGATGTTCAGGAGATGGTTGGAACTCTGCGTTG AGAAATACAGATATGATGGGTATCAGAATAAAAGTTGTAGGCTGGGTGCA GTGGCTCACACCTGTAACCCCAACACGTTGGGAGGCCGAACGGGTGGATC ATCTGAGGTCAGGAGTTCGAGACCAGCCTGTCCAACATGGTGAAACCCCG TCTCTACTAAAAATACAAAATTACCTGGGCATGGTGGCACATGCACCTGT AATCCCAGCTACTTGGGATGCTGAAGCAGGAGAATCACTTGAACCCAGAA GGTGGAGGTTGCAGTGAGCCAAGACCACACCACTGCATTCCAGCCAGAGC AAGGCTCTGTCTAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG04115.hp1 NA19090.hp2 HG03139.hp1 HG04115.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0102 a0001c0001t0001g0277 a0001c0001t0001g0051 a0001c0001t0001g0102 a0001c0001t0001g0277	3	286	0.0105	675	c.52 others(686): Show c.5260_*5261insTTTTTTTTTTTTTTAGACAGAGCCTTGCTCTGGC TGGAATGCAGTGGTGTGGTCTTGGCTCACTGCAACCTCCACCTTCTGGGT TCAAGTGATTCTCCTGCTTCAGCATCCCAAGTAGCTGGGATTACAGGTGC ATGTGCCACCATGCCCAGGTAATTTTGTATTTTTAGTAGAGACGGGGTTT CACCATGTTGGACAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACC CGTTCGGCCTCCCAACGTGTTGGGGTTACAGGTGTGAGCCACTGCACCCA GCCTACAACTTTTATTCTGATACCCATCATATCTGTATTTCTCAACGCAG AGTTCCAACCATCTCCTGAACATCTCTCACTGTTGTATTGGAATTTCAAA CTGAACAAGTGCAAATCTGAATACATTGTCTACTCCCCCAAAACATGCCA CTTATCTTCTCTGTATTATCTGGCTTTACCATTGCCTACAATTGTTCATG TATAACCTCGGCATGTCTCTCTCCCACTTAACCCCAACATTTTAGTTCAT CCAGTTCTAGCACTTTAAACTCTCAACTGCCCTCTCCTTTCCATCCATAC TGTCCTAGTTCAGACCCTTGTCCTTCTTGCTGGCCTTCTGGAGCTTTCTG ATCATCTACCTCCATCATCCACTTTTTTTTTTTTTTTTTTT		KLHL15	ENSG00000174010.10	transcript	ENST00000328046.8	protein_coding					1059		chrX	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(668): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCACTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACT CTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	370	0.0027	675	c.-27 others(686): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGTGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG		KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding					2705		chr12	TogoVar
LGR6_chr1_202188799_202324761	202205150	C C	CCACACAC others(668): Show CCACACACACACACCTAACACGCACCTCGTTCAAACGCACACACCCCCTT CAAACACACACACCTCCTTCAAACACACACACACCTCCAAACACACACAC ACCTAACACACACCTTCAAGCACACACTCCTCCAAACACACACACACCTA ACACACACCTCCTCCAAACACACACACCTAACACACACCTCCTTCAAACA CACACACCTAACACACCCGTCCTTCAAACACACACACACCACACACACAT CTAACACACACCTCCTTCAGACACACACCTCCAAACACACACACACCTTA CACACACCTTCAAACACACACACACCTAACACACACCTCCTTCAAACACA CACACCTCCAAACACACACATCTAACACACACCTCCTTCAAACACACACA CACACCTCCACACACACACACACAACACACACCTCCTTCAAACACACACA CCTCCAAACACACACACACCTAACACAGCTTCTTCAAACACACACACACC TCCAAACACACACACACCTAACACACACCTCCTTCAAACACACAAACCTC CAGCACACACACCTAACACACACCTCCTTCAAACACACACCTCCACACAC ACACACCTAACACATACCTCCTTCAAACACACACACCTCCAAACACACAC ACACCTAACACACACACCTTCAAACA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0095 a0001c0001t0004g0095	1	262	0.0038	675	c.212 others(694): Show c.212+10958_212+10959insACACCTAACACGCACCTCGTTCAAAC GCACACACCCCCTTCAAACACACACACCTCCTTCAAACACACACACACCT CCAAACACACACACACCTAACACACACCTTCAAGCACACACTCCTCCAAA CACACACACACCTAACACACACCTCCTCCAAACACACACACCTAACACAC ACCTCCTTCAAACACACACACCTAACACACCCGTCCTTCAAACACACACA CACCACACACACATCTAACACACACCTCCTTCAGACACACACCTCCAAAC ACACACACACCTTACACACACCTTCAAACACACACACACCTAACACACAC CTCCTTCAAACACACACACCTCCAAACACACACATCTAACACACACCTCC TTCAAACACACACACACACCTCCACACACACACACACAACACACACCTCC TTCAAACACACACACCTCCAAACACACACACACCTAACACAGCTTCTTCA AACACACACACACCTCCAAACACACACACACCTAACACACACCTCCTTCA AACACACAAACCTCCAGCACACACACCTAACACACACCTCCTTCAAACAC ACACCTCCACACACACACACCTAACACATACCTCCTTCAAACACACACAC CTCCAAACACACACACACCTAACACACACACCTTCAAACACACACACAC		LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(668): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCACGCC TGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGA GACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAA TATTAGCCGAGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCT GAGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTG ACAAAAGTACCTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCT TGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTC TTCCTCCCAGGTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0190 a0002c0002t0002g0190	1	448	0.0022	675	c.56 others(686): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGTAA CTGGATATAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAG TCTTGCTCTGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACT GAAAGCTCCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGTGCCCGCCACCACGCTCGGCTAATATTTTTGTA TTTTTAGTAGAGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCGATCTC CTGACCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAG GCATGAGCCACTGCGCCTGGCGAGAACATTTTTTTTTTAACAGTTAATTG GCCGGGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAG GCAGGTGGATCATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACA TGGTGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGCCAGGCGTGGT GGCGGGTGCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA		LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding					4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(668): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCACGCC TGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGA GACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAA TATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCT GAGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTG ACAAAAGTACCTTCTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCT TGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTC TTCCTCCCAGGTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 NA18972.hp1 NA18981.hp2 others(1): Show HG01934.hp2 NA18972.hp1 NA18981.hp2 NA18999.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0008 a0002c0002t0002 a0002c0002t0008	a0002c0002t0002g0191 a0002c0002t0002g0203 a0002c0002t0008g0044 others(1): Show a0002c0002t0002g0191 a0002c0002t0002g0203 a0002c0002t0008g0044 a0002c0002t0008g0045	4	448	0.0089	675	c.56 others(686): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGTAA CTGGATATAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAG TCTTGCTCTGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACT GAAAGCTCCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCACGCTCGGCTAATATTTTTGTA TTTTTAGTAGAGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCGATCTC CTGACCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAG GCATGAGCCACTGCGCCTGGCGAGAACATTTTTTTTTTAACAGTTAATTG GCCGGGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAG GCAGGTGGATCATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACA TGGTGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGCCAGGCGTGGT GGCGGGTGCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA		LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding					4813		chr1	TogoVar
LRRC38_chr1_13469973_13519003	13470159	C C	CTGCCTCA others(668): Show CTGCCTCAGCCTGCTGAGTAGCTGGGACTACAGGCACCCGCCACCACGCC TGGCTAATTTTTTGTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCC AGGATGGTCTGTCTCGATCTCCTGACCTCATGATCCACCTGCCTTGGCCT CCCAAAGTGCCGGGATTACAGGCGTGAGCCACCACGCCCGGCCAATTAAC TGTTAAAAAAAAAATGTTCTCGCCAGGCGCAGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACGAGGTCAGGAGATCGA GACCATCTTTGCTAACACAGTGAAACCTGTCTCTACTAAAAATACAAAAA TATTAGCCGAGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGCAGAATGGCGTGAACCTGGGAGGCGGAGCTTTCAGTGAGCT GAGATCGCGCCACTGCACTCCTGCCTGGGTGACAGAGCAAGACTCCATCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTTATATCCAGTTACCTTGA CAAAAGTACCTTCTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCT TGTTGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTC TTCCTCCCAGGTTCAAGTGATTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01496.hp1 NA18961.hp1 others(2): Show HG01123.hp2 HG01496.hp1 NA18961.hp1 NA19005.hp1 NA19062.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0008 a0002c0002t0002 a0002c0002t0008	a0002c0002t0002g0005 a0002c0002t0002g0073 a0002c0002t0002g0256 others(2): Show a0002c0002t0002g0005 a0002c0002t0002g0073 a0002c0002t0002g0256 a0002c0002t0002g0321 a0002c0002t0008g0028	5	448	0.0112	675	c.56 others(686): Show c.5686_*5687insAGAGAATCACTTGAACCTGGGAGGAAGAGGTTGC AGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAAGAGCGAA ACTCTGTCTCAAAAAAAAAAAAAAAAAAAGAAGGTACTTTTGTCAAGGTA ACTGGATATAACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAG TCTTGCTCTGTCACCCAGGCAGGAGTGCAGTGGCGCGATCTCAGCTCACT GAAAGCTCCGCCTCCCAGGTTCACGCCATTCTGCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCACGCTCGGCTAATATTTTTGTA TTTTTAGTAGAGACAGGTTTCACTGTGTTAGCAAAGATGGTCTCGATCTC CTGACCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAG GCATGAGCCACTGCGCCTGGCGAGAACATTTTTTTTTTAACAGTTAATTG GCCGGGCGTGGTGGCTCACGCCTGTAATCCCGGCACTTTGGGAGGCCAAG GCAGGTGGATCATGAGGTCAGGAGATCGAGACAGACCATCCTGGCTAACA TGGTGAAACCCCGTCTCTACTAAAAACACAAAAAATTAGCCAGGCGTGGT GGCGGGTGCCTGTAGTCCCAGCTACTCAGCAGGCTGAGGCA		LRRC38	ENSG00000162494.6	transcript	ENST00000376085.4	protein_coding					4813		chr1	TogoVar
LUC7L_chr16_183990_234449	186612	G G	GGAGGAAC others(668): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACA GCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGG GGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGAGGGAGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGGAGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGGAACAGCGACACGGGAGGGAG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	350	0.0029	675	c.25 others(686): Show c.2585_*2586insTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTG TTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCCCCCGTGT CGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCTCC CGTGTCGCTGTTCCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCC CCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCC TCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCT GTTCCTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTG TCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCCC CCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGT TCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTC GCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCC GTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTC CCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTC CCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTC		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2377		chr16	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(668): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGC GGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGGAGGGGGAAAAGGGG TGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGGTGGGGGGA AGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGT GAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGA GGGGGAGGGGAGGGGAGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGG AGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGG AGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGA GGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGG GGAGGGGGAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGGAGGGAAGGGAG GGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGAGGGGGAGGGGGA GGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGG AGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0251 a0001c0001t0006g0251	1	272	0.0037	675	c.250 others(690): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCCCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCC CTTCCCTCCCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTC CCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCC CCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCC CTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCC CTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCTCCCCTCCCCCTCCC TCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCACCC CTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCC CCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCACCCC TTTTCCCCCTCCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCT TCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCT		MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10						chr6	TogoVar
MUC4_chr3_195741771_195816929	195776441	G G	GCACCCAT others(668): Show GCACCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCACC CATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGTCATAC CTTCCACAGTCATACCTTCCGCACCCATACCTTCCACAGTCATACCTTCC GCACCCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCACC CATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACAGTCATAC CTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATACCTTCC ACACCCATACCTTCCACGGCCATACCTTCCACACCCATACCTTCCACACC CATACCTTCCACACCCATACCTTCCGCACCCATACCTTCCGCACCCATAC CTTCCACACCCATACCTTCCACACCCATACCTTCCACAGTCATACCTTCC ACACCCATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACACC CATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCATAC CTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCATACCTTCC GCACCCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCGCACC CTTACCTTCCGCACCCATACCTTCCA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0010 a0003c0003t0002g0010	1	249	0.0040	675	c.129 others(696): Show c.12943+1861_12943+1862insTGGAAGGTATGGGTGCGGAAGGTA AGGGTGCGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGT GCGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGA AGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTA TGGGTGTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGGGT GTGGAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGA AGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGTGGAAGGTA TGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGCCGTGGAAGGTATGGGT GTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGA AGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTA TGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGT GCGGAAGGTATGACTGTGGAAGGTATGGGTGCGGAAGGTATGACTGTGGA AGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTA TGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGT G		MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24						chr3	TogoVar
MUC4_chr3_195741771_195816929	195782886	A A	AGGAAGAG others(668): Show AGGAAGAGGGGTGGCCTGTCCTGTGGATGCTGAGGAAGTGTCGGTGACAA GAAGAGGGATGGCGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAGGA AGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAG AGAGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCAGTGACAGGAAGAG AGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGGG GTGGTGTCACCTGTGGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGGT GGTGTCCCCTGTGGATAATGAGGAAGCATCGGTGACATGAAGAGCGGTGG CGTGACCTGTGGATACTGAGGAAGCGTCGGTGACAAGAAGAGAGGTGGCG TGACCTGTGGATACTGAGGAAGCGTCGGTGACAAGAAGATGGGTGGCGTG ACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCAC CTGTGGATACTGAGAAAAGGCTGGTGACAGGAAGAGGGGTGTCCTGACCT GTGGATGCTGAGGAAGTATCAGTGACAGGAAGCGGCGTGGTGTCACCAGT GGATGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTGTCCTG TAGATACTGAGGAAGTGTCGGTGACC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01192.hp1 HG02004.hp2 HG02027.hp1 others(9): Show HG01192.hp1 HG02004.hp2 HG02027.hp1 HG02071.hp1 HG02523.hp1 HG03704.hp2 HG03831.hp2 NA18959.hp1 NA19004.hp2 NA19091.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0004 a0008 a0009 others(8): Show a0004 a0008 a0009 a0022 a0118 a0145 a0146 a0147 a0157 a0167 a0173	a0004c0004 a0008c0087 a0009c0006 others(8): Show a0004c0004 a0008c0087 a0009c0006 a0022c0096 a0118c0112 a0145c0070 a0146c0072 a0147c0063 a0157c0107 a0167c0054 a0173c0048	a0004c0004t0001 a0008c0087t0001 a0009c0006t0001 others(8): Show a0004c0004t0001 a0008c0087t0001 a0009c0006t0001 a0022c0096t0001 a0118c0112t0001 a0145c0070t0001 a0146c0072t0001 a0147c0063t0001 a0157c0107t0001 a0167c0054t0001 a0173c0048t0001	a0004c0004t0001g0094 a0008c0087t0001g0127 a0009c0006t0001g0101 others(9): Show a0004c0004t0001g0094 a0008c0087t0001g0127 a0009c0006t0001g0101 a0009c0006t0001g0133 a0022c0096t0001g0077 a0118c0112t0001g0109 a0145c0070t0001g0169 a0146c0072t0001g0171 a0147c0063t0001g0149 a0157c0107t0001g0145 a0167c0054t0001g0110 a0173c0048t0001g0146	12	249	0.0482	675	c.869 others(684): Show c.8693_8694insGGTCACCGACACTTCCTCAGTATCTACAGGACAGGC CACCCCTCTTCCTGTCACCAGCCTTTCCTCAGCATCATCCACTGGTGACA CCACGCCGCTTCCTGTCACTGATACTTCCTCAGCATCCACAGGTCAGGAC ACCCCTCTTCCTGTCACCAGCCTTTTCTCAGTATCCACAGGTGACACCAC GCCTCTTCCTGTCACTAGCCCTTCCTCAGCATCCACAGGTCACGCCACCC ATCTTCTTGTCACCGACGCTTCCTCAGTATCCACAGGTCACGCCACCTCT CTTCTTGTCACCGACGCTTCCTCAGTATCCACAGGTCACGCCACCGCTCT TCATGTCACCGATGCTTCCTCATTATCCACAGGGGACACCACCCCTCTTC CTGTCACCAGCCCTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCCT GTCACCGACACTTCCTCAGTATCCACAGGTCACGCCACCTCTCTTCCTGT CACTGACACTTCCTCAGCATCCACAGGTCACGCCACCTCTCTTCCTGTCA CCGACACTTCCTCAGCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACC AGCCCTTCCTCAGCATCCACAGGTCACGCCATCCCTCTTCTTGTCACCGA CACTTCCTCAGCATCCACAGGACAGGCCACCCCTCTTCC	p.Pro others(690): Show p.Pro2898_Leu2899insValThrAspThrSerSerValSerThrGly GlnAlaThrProLeuProValThrSerLeuSerSerAlaSerSerThrGl yAspThrThrProLeuProValThrAspThrSerSerAlaSerThrGlyG lnAspThrProLeuProValThrSerLeuPheSerValSerThrGlyAsp ThrThrProLeuProValThrSerProSerSerAlaSerThrGlyHisAl aThrHisLeuLeuValThrAspAlaSerSerValSerThrGlyHisAlaT hrSerLeuLeuValThrAspAlaSerSerValSerThrGlyHisAlaThr AlaLeuHisValThrAspAlaSerSerLeuSerThrGlyAspThrThrPr oLeuProValThrSerProSerSerAlaSerThrGlyAspThrThrProL euProValThrAspThrSerSerValSerThrGlyHisAlaThrSerLeu ProValThrAspThrSerSerAlaSerThrGlyHisAlaThrSerLeuPr oValThrAspThrSerSerAlaSerThrGlyGlnAlaThrProLeuProV alThrSerProSerSerAlaSerThrGlyHisAlaIleProLeuLeuVal ThrAspThrSerSerAlaSerThrGlyGlnAlaThrProLeuPro	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	8805/16756	8693/16239	2898/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195782886	A A	AGGAAGAG others(668): Show AGGAAGAGGGGTGGCCTGTCCTGTGGATGCTGAGGAAGTGTCGGTGACAA GAAGAGGGATGGCGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAGGA AGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAG AGAGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCAGTGACAGGAAGAG AGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACAGGAAGAGGG GTGGTGTCACCTGTGGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGGT GGTGTCCCCTGTGGATAATGAGGAAGCATCGGTGACATGAAGAGTGGTGG CGTGACCTGTGGATACTGAGGAAGCGTCGGTGACAAGAAGAGAGGTGGCG TGACCTGTGGATACTGAGGAAGCGTCGGTGACAAGAAGATGGGTGGCGTG ACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCAC CTGTGGATACTGAGAAAAGGCTGGTGACAGGAAGAGGGGTGTCCTGACCT GTGGATGCTGAGGAAGTATCAGTGACAGGAAGCGGCGTGGTGTCACCAGT GGATGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTGTCCTG TAGATACTGAGGAAGTGTCGGTGACC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03491.hp2 HG03491.hp2	a0152 a0152	a0152c0094 a0152c0094	a0152c0094t0002 a0152c0094t0002	a0152c0094t0002g0123 a0152c0094t0002g0123	1	249	0.0040	675	c.869 others(684): Show c.8693_8694insGGTCACCGACACTTCCTCAGTATCTACAGGACAGGC CACCCCTCTTCCTGTCACCAGCCTTTCCTCAGCATCATCCACTGGTGACA CCACGCCGCTTCCTGTCACTGATACTTCCTCAGCATCCACAGGTCAGGAC ACCCCTCTTCCTGTCACCAGCCTTTTCTCAGTATCCACAGGTGACACCAC GCCTCTTCCTGTCACTAGCCCTTCCTCAGCATCCACAGGTCACGCCACCC ATCTTCTTGTCACCGACGCTTCCTCAGTATCCACAGGTCACGCCACCTCT CTTCTTGTCACCGACGCTTCCTCAGTATCCACAGGTCACGCCACCACTCT TCATGTCACCGATGCTTCCTCATTATCCACAGGGGACACCACCCCTCTTC CTGTCACCAGCCCTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCCT GTCACCGACACTTCCTCAGTATCCACAGGTCACGCCACCTCTCTTCCTGT CACTGACACTTCCTCAGCATCCACAGGTCACGCCACCTCTCTTCCTGTCA CCGACACTTCCTCAGCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACC AGCCCTTCCTCAGCATCCACAGGTCACGCCATCCCTCTTCTTGTCACCGA CACTTCCTCAGCATCCACAGGACAGGCCACCCCTCTTCC	p.Pro others(690): Show p.Pro2898_Leu2899insValThrAspThrSerSerValSerThrGly GlnAlaThrProLeuProValThrSerLeuSerSerAlaSerSerThrGl yAspThrThrProLeuProValThrAspThrSerSerAlaSerThrGlyG lnAspThrProLeuProValThrSerLeuPheSerValSerThrGlyAsp ThrThrProLeuProValThrSerProSerSerAlaSerThrGlyHisAl aThrHisLeuLeuValThrAspAlaSerSerValSerThrGlyHisAlaT hrSerLeuLeuValThrAspAlaSerSerValSerThrGlyHisAlaThr ThrLeuHisValThrAspAlaSerSerLeuSerThrGlyAspThrThrPr oLeuProValThrSerProSerSerAlaSerThrGlyAspThrThrProL euProValThrAspThrSerSerValSerThrGlyHisAlaThrSerLeu ProValThrAspThrSerSerAlaSerThrGlyHisAlaThrSerLeuPr oValThrAspThrSerSerAlaSerThrGlyGlnAlaThrProLeuProV alThrSerProSerSerAlaSerThrGlyHisAlaIleProLeuLeuVal ThrAspThrSerSerAlaSerThrGlyGlnAlaThrProLeuPro	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	8805/16756	8693/16239	2898/5412			chr3	TogoVar
NKAIN2_chr6_123798865_124830640	124687566	T T	TATATTCC others(668): Show TATATTCCATACATATACATACATGGTATATATTCCATACATATACATAC ATGGTATATATTCCATATATACATACATGGTATATATTCCTATATATACA TACATGGTATATATTCCATATATATACATACATGGTATATATTCCATATA TATATACACATACATGGTATATATTCCATATATATATACACATACATGGT ATATATTCCATATATACATACATGGTATATATTCCTATATATACATACAT GGTATATATTCCTATATATACATACATGGTATATATTCCATATATATACA TACATGGTATATATTCCATATATATATACATACATGGTATATATTCCATA TATATACATACATGGAATATATATATTCCATACATGGAATATATATATTC CATATATACATATATATATTCCATATATACACATATATATATTCCATATA TACACATATACATGGAATATATATCTGTATATATATGGAATATATATATG TATATATATGAAATATATATGTATATGTATTTATATTATGTATTTATATT ATAAATATATATTATGTATATATATTTATATTATAAATATATATTATGTA TATATATTTATAATATAAATATATATTATGTATATATATTTATATTATAA ATATATATTATGTATATATATTTATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02895.hp2 NA18522.hp1 others(1): Show HG02717.hp1 HG02895.hp2 NA18522.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0016 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0016 a0001c0002t0001 a0001c0002t0014	a0001c0001t0001g0040 a0001c0001t0016g0010 a0001c0002t0001g0008 others(1): Show a0001c0001t0001g0040 a0001c0001t0016g0010 a0001c0002t0001g0008 a0001c0002t0014g0022	4	66	0.0606	675	c.474 others(694): Show c.474+29184_474+29185insTCCATACATATACATACATGGTATAT ATTCCATACATATACATACATGGTATATATTCCATATATACATACATGGT ATATATTCCTATATATACATACATGGTATATATTCCATATATATACATAC ATGGTATATATTCCATATATATATACACATACATGGTATATATTCCATAT ATATATACACATACATGGTATATATTCCATATATACATACATGGTATATA TTCCTATATATACATACATGGTATATATTCCTATATATACATACATGGTA TATATTCCATATATATACATACATGGTATATATTCCATATATATATACAT ACATGGTATATATTCCATATATATACATACATGGAATATATATATTCCAT ACATGGAATATATATATTCCATATATACATATATATATTCCATATATACA CATATATATATTCCATATATACACATATACATGGAATATATATCTGTATA TATATGGAATATATATATGTATATATATGAAATATATATGTATATGTATT TATATTATGTATTTATATTATAAATATATATTATGTATATATATTTATAT TATAAATATATATTATGTATATATATTTATAATATAAATATATATTATGT ATATATATTTATATTATAAATATATATTATGTATATATATTTATAATAT		NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
NME4_chr16_392199_405754	397709	T T	TGAGGGAG others(668): Show TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGG AGTCGGGGAGTGGGGGGTGGGGGTGGAGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGCGGGTGTGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGGGAGGGTGAGGGAGTCAGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG GGTGAGGGAGTTGGGGGGTGGGGGTG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	356	0.0028	675	c.91+ others(688): Show c.91+397_91+398insAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGTGGGGGGGTGAGGGAGTCGGGGAGTGGGGGGTGGGGGTGGAGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGCGGGTGTGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGGGAGGGTGAGGGAGTCAGGGGGTGGGGGTGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGG		NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(668): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC CCACCCTCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCC TCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCC CCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCC TTCCCTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0118 a0001c0001t0118	a0001c0001t0118g0241 a0001c0001t0118g0241	1	326	0.0031	675	c.433 others(692): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGG AGAGGGAAGGGGAAGGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAGG GGAAGGGGGAGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAGGGGGAGG GGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAGGGGAAGGGGAGGGTGGGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG		NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5						chr1	TogoVar
NUP205_chr7_135552917_135653753	135570756	T T	TTATATAT others(668): Show TTATATATTATATTAATATAATTAATTATATTTATATATTATATTAATAT ATATTAATTATATTTATATATTATATTAATATATATTAATTATATTTATA TATTATATTAATATATATTAATTATATTAATATATATTATATTAATATAT ATTAATTATATTTATATATTATATTAATATATATTAATTATATTTATATA TTATATTAATATATATTAATTATATTAATATATATTAATTATATTAATAT ATATTAATATATATTAATTATATTAATATATATTAATATAATTAATATAT ATTAATTATATTAATATATATTAATATAATTAATATATATTAATATATAT TATATTAATATATATTATATTAATATATATTAATATATATTATATTAATA TATATTATATTAATATATATTAATATATATTATATTAATATATATTATAT TAATATATATTAATATATATTATATTAATATATATTATATTAATATATAT TAATATATATTATATTAATATATATTAATATATATTATATTAATATATAT TATATTAATATATATTAATATATATTATATTAATATATATTAATATATAT TATATTAATATATATTATATTAATATATATTAATTATATTAATATATATT ATATTAATATATATTAATTATATTAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0001 a0002c0019t0001	a0002c0019t0001g0016 a0002c0019t0001g0016	1	352	0.0028	675	c.29- others(688): Show c.29-330_29-329insATTAATTATATTTATATATTATATTAATATAT ATTAATTATATTTATATATTATATTAATATATATTAATTATATTTATATA TTATATTAATATATATTAATTATATTAATATATATTATATTAATATATAT TAATTATATTTATATATTATATTAATATATATTAATTATATTTATATATT ATATTAATATATATTAATTATATTAATATATATTAATTATATTAATATAT ATTAATATATATTAATTATATTAATATATATTAATATAATTAATATATAT TAATTATATTAATATATATTAATATAATTAATATATATTAATATATATTA TATTAATATATATTATATTAATATATATTAATATATATTATATTAATATA TATTATATTAATATATATTAATATATATTATATTAATATATATTATATTA ATATATATTAATATATATTATATTAATATATATTATATTAATATATATTA ATATATATTATATTAATATATATTAATATATATTATATTAATATATATTA TATTAATATATATTAATATATATTATATTAATATATATTAATATATATTA TATTAATATATATTATATTAATATATATTAATTATATTAATATATATTAT ATTAATATATATTAATTATATTAATATATATTATATTAATATA		NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42					INFO_REALIGN_3_PRIME	chr7	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(668): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTAATACATATATAACATATATGTATTAC ATATATGTAATACATATATAACATATATGTATTACATATATGTAATACAT ATATAACATGTATTACATATATGTATTACATATATGTAATACATATATAA CATGTATTACATATATGTATTACATATATGTAATACATATATAACATGTA TTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0005 a0001c0001t0010g0005	1	400	0.0025	675	c.70 others(686): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTAATACATATATAACATATATGTATTAC ATATATGTAATACATATATAACATGTATTACATATATGTATTACATATAT GTAATACATATATAACATGTATTACATATATGTATTACATATATGTAATA CATATATAACATGTATTACATATATGTAATACATATATAAC		PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding					3166		chr20	TogoVar
PCBP3_chr21_45638725_45947450	45746270	T T	TTGTCAGC others(668): Show TTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGTTGTC AGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCAT CGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCG TGTCAGTCCATTGACGTAGCGCACACGGTGTTGTCAGCATCGCCGTGTCA GTCCATTGACGTAGCGCACACGGTGTTGTCAGCATCGCCGTGTCAGTCCA TTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGAC GTAGCGCACACGGTGTTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGC GCACACGGTGTTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACA CGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTG GTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTC AGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCAT CGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGTTGTCAGCATCGCCG TGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCA GTCCATTGACGTAGCGCACACGGTGG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0285 a0001c0002t0009g0285	1	292	0.0034	675	c.-16 others(694): Show c.-161-9058_-161-9057insGTGTCAGCATCGCCGTGTCAGTCCAT TGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACG TAGCGCACACGGTGTTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCG CACACGGTGTTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACAC GGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGT TGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGTTGTCA GCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATC GCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGT GTCAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAG TCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCAT TGACGTAGCGCACACGGTGTTGTCAGCATCGCCGTGTCAGTCCATTGACG TAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCG CACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACAC GGTGTTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTG		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45909792	C C	CCCCCCCG others(668): Show CCCCCCCGCCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGAT ACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCGCCCACTGC CCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCGC CCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCC GGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATAC GGACCCCCCCCCCGCCCACTGCCCAGATACGGACCCCCCCCGCCCACTGC CCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCTGGCCACCC ACTGCCCAGATACGGACCCGGCCACCCACTGCCCAGATACAGACCCGGCC CACCCACTGCCCAGATATGGACCCCCCCAACCCACTTCCCAGATACGGAC CCCCCCACACACACTTCCCAGATACGGACCCCCCCACACACACTTCCCAG ATACGGACCCCCCTCACCTGCTTCCCAAATATGGACCTGGCCCACCCACT GCCCAGATATGGACCCCCCCCACCACTGCCCAGATACGGACCCCCCCCAC CCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCC CCCCCCGCCCACTGCCCAGATACGGA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0284 a0001c0001t0002g0284	1	292	0.0034	675	c.471 others(690): Show c.471+312_471+313insGCCCACTGCCCAGATACGGACCCCCCCCAC CCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCC CCCCGCCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATAC GGACCCCCCCCGCCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCC CAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCC ACTGCCCAGATACGGACCCCCCCCCCGCCCACTGCCCAGATACGGACCCC CCCCGCCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACG GACCTGGCCACCCACTGCCCAGATACGGACCCGGCCACCCACTGCCCAGA TACAGACCCGGCCCACCCACTGCCCAGATATGGACCCCCCCAACCCACTT CCCAGATACGGACCCCCCCACACACACTTCCCAGATACGGACCCCCCCAC ACACACTTCCCAGATACGGACCCCCCTCACCTGCTTCCCAAATATGGACC TGGCCCACCCACTGCCCAGATATGGACCCCCCCCACCACTGCCCAGATAC GGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCC AGATACGGACCCCCCCCCCGCCCACTGCCCAGATACGGACCCCCC		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17					INFO_REALIGN_3_PRIME	chr21	TogoVar
PCID2_chr13_113172536_113213669	113176508	C C	CCCAGCAC others(668): Show CCCAGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGACAGAACTGTG GCCTTGTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCACCCC AGCACTTTGGGAGGCCGAGGCGGGGGAATTGCCCCGACAGAAACTGTGGC CTTGTAAGAGGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCACCCAG CACTTTGGGAGGCTGAGGCGGGGGAATTGCCCCGACAGAACTGTGGCCTT GTAAGAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCACCCAGCACT TTGGGAGGCCGAGGCGGGGGAATTGCCCCGACAGAACTGTGGCCTTGTAA GAGGAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCACCCCAGCACTTTG GGAGGCCGAGGCGGGGGAATTGCCCCGACAGAACTGTGGCCTTGTAAGAG GAAGAGAGCCGGGTGTGGTGGCACATGCCTGTCACCCAGCACTTTGGGAG GCCGAGGCGGGGGAATTGCCCCGACAGAACTGTGGCCTTGTAAGAGGAAG AGAGCCGGGTGTGGTGGCACATGCCTGTCACCCAGCACTTTGGGAGGCCG AGGCGGGGGAATTGCCCCGACAGAACTGTGGCCTTGTAAGAGGAAGAGAG CCGGGTGTGGTGGCACATGCCTGTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	414	0.0024	675	c.16 others(686): Show c.1689_*1690insTGACAGGCATGTGCCACCACACCCGGCTCTCTTC CTCTTACAAGGCCACAGTTCTGTCGGGGCAATTCCCCCGCCTCGGCCTCC CAAAGTGCTGGGTGACAGGCATGTGCCACCACACCCGGCTCTCTTCCTCT TACAAGGCCACAGTTCTGTCGGGGCAATTCCCCCGCCTCGGCCTCCCAAA GTGCTGGGTGACAGGCATGTGCCACCACACCCGGCTCTCTTCCTCTTACA AGGCCACAGTTCTGTCGGGGCAATTCCCCCGCCTCGGCCTCCCAAAGTGC TGGGGTGACAGGCATGTGCCACCACACCCGGCTCTCTTCCTCTTACAAGG CCACAGTTCTGTCGGGGCAATTCCCCCGCCTCGGCCTCCCAAAGTGCTGG GTGACAGGCATGTGCCACCACACCCGGCTCTCTTCCTCTTACAAGGCCAC AGTTCTGTCGGGGCAATTCCCCCGCCTCAGCCTCCCAAAGTGCTGGGTGA CAGGCATGTGCCACCACACCCGGCTCTCTTCCCTCTTACAAGGCCACAGT TTCTGTCGGGGCAATTCCCCCGCCTCGGCCTCCCAAAGTGCTGGGGTGAC AGGCATGTGCCACCACACCCGGCTCTCTTCCTCTTACAAGGCCACAGTTC TGTCGGGGCAATTCCCCCGCCTCGGCCTCCCAAAGTGCTGG		PCID2	ENSG00000126226.22	transcript	ENST00000337344.9	protein_coding					1027		chr13	TogoVar

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Search Results (Total: 10000 hits)