JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ADARB2_chr10_1172313_1742525	1397492	G G	GAGGCTTC others(731): Show GAGGCTTCCTGGGTCACCGTCCTCCTCTCCCCTCCCGAGTGGAGGCTTCC TGGGTCACCGTCCGTCTCTCCCCTCCCGAGTGGAGGCTTCCTGGGTCACC ATCAGCCTCTCCCCTCCCGAGTGGAGGCTTCCTGGGTCACCGTCCATCTC TTCCCTCCCGAGCGCAGGCTTCCTGGGTCACCATCAGCCTCTCCCCTCCC GAGTGGAGGCTTCCTGGGTCACCGTCCTCCTCTCCCCTCCCGAGTGGAGG CTTCCTGGGTCACCGTCCGTCTCTCCCCTCCCGAGTGGAGGCTTCCTGGG TCACCGTCCGTCTCTCCCCTCCCGAGCGCAGGCTTCCTGGGTCACCATCA GCCTCTCCCCTCCCGAGTGGAGGCTTCCTGGGTCACCGTCCTCCTCTCCC CTCCCGAGTGGAGGCTTCCTGGGTCACCGTCCTCCTCTCCCCTCCCGAGT GCAGGCTTCCTGGGTCACCGTCTGTCTCTCCCCTCCCGAGTGCAGGCTTC CTGGGTCACCGTCCTCCTCTCCCCTCCCGAGTGCAGGCTTCCTGGGTCAC CGTCCTCCTCTCCCCTCCCGAGTGCAGACTTCCTGGGTCACCGCCCTCCT CTCCCCTCCCGAGTGCAGGCTTCCTGGGTCACCATCAGTCTCTCCCCTCC CGAGTGCAGGCTTCCTGGGTCACCGTCCTCCTCTCCCGTCCCGAGTGCAG GCTTCCTGGGTCACCATCAGTCTCTCCCCTCCCGAGTGC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0062 a0001c0001t0052g0062	1	106	0.0094	738	c.101 others(757): Show c.101-18333_101-18332insGCACTCGGGAGGGGAGAGACTGATGG TGACCCAGGAAGCCTGCACTCGGGACGGGAGAGGAGGACGGTGACCCAGG AAGCCTGCACTCGGGAGGGGAGAGACTGATGGTGACCCAGGAAGCCTGCA CTCGGGAGGGGAGAGGAGGGCGGTGACCCAGGAAGTCTGCACTCGGGAGG GGAGAGGAGGACGGTGACCCAGGAAGCCTGCACTCGGGAGGGGAGAGGAG GACGGTGACCCAGGAAGCCTGCACTCGGGAGGGGAGAGACAGACGGTGAC CCAGGAAGCCTGCACTCGGGAGGGGAGAGGAGGACGGTGACCCAGGAAGC CTCCACTCGGGAGGGGAGAGGAGGACGGTGACCCAGGAAGCCTCCACTCG GGAGGGGAGAGGCTGATGGTGACCCAGGAAGCCTGCGCTCGGGAGGGGAG AGACGGACGGTGACCCAGGAAGCCTCCACTCGGGAGGGGAGAGACGGACG GTGACCCAGGAAGCCTCCACTCGGGAGGGGAGAGGAGGACGGTGACCCAG GAAGCCTCCACTCGGGAGGGGAGAGGCTGATGGTGACCCAGGAAGCCTGC GCTCGGGAGGGAAGAGATGGACGGTGACCCAGGAAGCCTCCACTCGGGAG GGGAGAGGCTGATGGTGACCCAGGAAGCCTCCACTCGGGAGGGGAGAGAC GGACGGTGACCCAGGAAGCCTCCACTCGGGAGGGGAGAGGAGGACGGTGA CCCAGGAAGCCT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(731): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCACCCACCCATTTATCAACCCATCCATTCACCCACCGTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCACCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCATTCATCCATCCACCCACCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCACTCATCCATCCACCCATCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CACCCATTCATCCATTCACCCACCCATTCATCCATCCACCCACCCATTCA TCCATCCACCCATCCATTCATCCATCCACCCATCCATTCATCCATCCACC CACCCATTTACCTACCCATTAATTCACCCACCCTTCCACCACCCACCCAC CCATCCATATACCCACCCACCCATTCACCCATCCATTCATCCATCCACCC ACCCACCCATTCACCCACCCACCCAGCCATCTCACCCATTCACCCATCCA CTCATCCATTCACCTATCCACCCACCCATCCACTCATCC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0040 a0040	a0040c0037 a0040c0037	a0040c0037t0050 a0040c0037t0050	a0040c0037t0050g0088 a0040c0037t0050g0088	1	262	0.0038	738	c.775 others(753): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGTGGATGGATGAATGGATGGGTGGATGGATGAATGGATGG GTGGATGGATGAATGGGTGGGTGGATGGATGAATGGGTGGGTGAATGGAT GAATGGGTGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGG GTGGATGGATGAATGGATGGGTGGATGGATGAGTGGGTGGGTGAATGGAT GAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGG GTGGATGGATGAATGGGTGGGTGGATGGATGAATGGGTGGGTGAATGGAT GAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGGTGG GTGGATGGATGAATGGGTGGGTGAATGGATGAATGGGTGGGTGGATGGAT GAGTGGACGGGTGAATTGATGGGTGGGTGGGTATATGGATGGGTGGGTGG GTGGGTGGTGGAACGGTGGGTGAATGGATGGGTTGATAAATGGGTGGGTG AATGGATGGGTGGATGGATGAGTGGATGGTGAATGGATGGGTGGGTGGAT GGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(731): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCCTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCACCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATCCACCCACCCATTCATCCATCCACCCATCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCACTCATCCATCCACCCATCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CACCCATTCATCCATTCACCCACCCATTCATCCATCCACCCACCCATTCA TCCATCCACCCATCCATTCATCCATCCACCCATCCATTCATCCATTCACC CACCCATTTACCTACCCATTAATTCACCCACCCTTCCACCACCCACCCAC CCATCCATATACCCACCCACCCATTCACCCATCCATTCATCCATCCACCC ACCCACCCATTCACCCACCCACCCAGCCATCTCACCCATTCACCCATCCA CTCATCCATTCACCTATCCACCCACCCATCCACTCATCC	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0087 a0001c0001t0062g0087	1	262	0.0038	738	c.775 others(753): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGATGG GTGGATGGATGAATGGGTGGGTGGATGGATGAATGGGTGGGTGAATGGAT GAATGGGTGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGG GTGGATGGATGAATGGATGGGTGGATGGATGAGTGGGTGGGTGAATGGAT GAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGG GTGGATGGATGAATGGATGGGTGGATGGATGAATGGGTGGGTGGATGGAT GAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGGTGG GTGGATGGATGAATGGGTGGGTGAATGGATGAATGGGTGGGTGGATGGAT GAGTGGACGGGTGAATTGATGGGTGGGTGGGTATATGGATGGGTGGGTGG GTGGGTGGTGGAAGGGTGGGTGAATGGATGGGTTGATAAATGGGTGGGCG AATGGATGGGTGGATGGATGAGTGGATGGTGAATGGATGGGTGGGTGGAT GGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(731): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCCTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCACCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATCCACCCACCCATTCATCCATCCACCCATCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATTCACCCATCCATTCATCCATCCACCCATCCATTCA TCCATTCACCCACCCACTCATCCATCCACCCATCCATTCATCCATCCACC CACCCATTCATCCATCCACCCATCCATTCATCCATCCACCCATCCATTCA TCCATTCACCCACCCACTCATCCATCCACCCATCCATTCATCCATTCACC CACCCATTTACCTACCCATTAATTCACCCACCCTTCCACCACCCACCCAC CCATCCATATACCCACCCACCCATTCACCCATCCATTCATCCATCCACCC ACCCACCCATTCACCCACCCACCCAGCCATCTCACCCATTCACCCATCCA CTCATCCATTCACCTATCCACCCACCCATCCACTCATCC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0033 a0033	a0033c0021 a0033c0021	a0033c0021t0028 a0033c0021t0028	a0033c0021t0028g0009 a0033c0021t0028g0009	1	262	0.0038	738	c.775 others(753): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAGTGGGTGG GTGAATGGATGAATGGATGGGTGGATGGATGAATGGATGGGTGGATGGAT GAATGGGTGGGTGGATGGATGAATGGATGGGTGGATGGATGAGTGGGTGG GTGAATGGATGAATGGATGGGTGGATGGATGAATGGATGGGTGAATGGAT GAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGG GTGGATGGATGAATGGATGGGTGGATGGATGAATGGGTGGGTGGATGGAT GAATGGATGGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGGTGG GTGGATGGATGAATGGGTGGGTGAATGGATGAATGGGTGGGTGGATGGAT GAGTGGACGGGTGAATTGATGGGTGGGTGGGTATATGGATGGGTGGGTGG GTGGGTGGTGGAAGGGTGGGTGAATGGATGGGTTGATAAATGGGTGGGCG AATGGATGGGTGGATGGATGAGTGGATGGTGAATGGATGGGTGGGTGGAT GGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
AGPAT2_chr9_136668143_136692457	136675470	C C	CAGCAGGG others(731): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGG ACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGC AGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGA GGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAG CAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGC TGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTG GCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGG AGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGG GCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGG TAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGG GACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAG CAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGG	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA19005.hp2 NA19070.hp2 NA18990.hp1 NA19005.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	3	374	0.0080	738	c.589 others(753): Show c.589-664_589-663insCCCAGTCCCCAGCCTACCTGCTGGCCCCCT CCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTG CTCCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTC CCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTCCCAGTCCCCAGCCTA CCTGCTGGCCCCCTCCCTCCCTGCTCCCAGTCCCCAGCCTACCTGCTGGC CCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCT CCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTCC CAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTCCCAGTCCCCA GCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTACCTG CTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCC TCCCTCCCTGCTCCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCT GCTCCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGT CCCCAGCCTACCTGCTGGCCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCT ACCTGCTGGCCCCCTCCCTCCCTGCTCCCAGTCCCCAGCCTACCTGCTGG CCCCCTCCCTCCCTGCTGCCAGTCCCCAGCCTACCTGCTGGCCCCCTCCC TCCCTGCT	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	4/5			chr9	TogoVar
AHRR_chr5_316714_443285	344423	A A	ATGTGTGA others(731): Show ATGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTG TGTGTGCGCGGGGGGAGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGT GTGCGCGGGGGGAGCTGTGTGTGTGTGTGCGGTATGTGTGAGGCTGTGGG GGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAG CTGTGTGTGTGTGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGG TGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGG TGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGA GGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGAGG CTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCG GGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTG TGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGT GTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTG TGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTG TGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCT GTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	268	0.0037	738	c.62+ others(751): Show c.62+534_62+535insGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGG GGGGAGCTGTGTGTGTGTGTGCGGTATGTGTGAGGCTGTGGGGGGCTGTG TGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGT GTGTGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTG TGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTG TGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGT GTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGAGGCTGTGGGG GGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGC TGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGG GTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGG GTGTGTGTGTGTGAGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTG AGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTG AGGCTGTGGGGGGCTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGC GCGGGGGGAGCTGTGTGTGTGTGGGTGTGTGTGTGTGAGGCTGTGGGGGG CTGTGTGTGGGGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTG TGTGTG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKLE2_chr12_132720503_132766832	132759517	A A	ATATGATA others(731): Show ATATGATATGTGCTATATGATATACACGTATCATATGCCATGATATACGT ATATTATACATCATATATAAAAACATATTTTTATATAAAATATCAGTATT TTATGTATATTATATGTGCTATATGATATACACGTATCATATGCCATGAT ATACGTATATTATACATCATATATAAAAACATATTTTTATATAAAATATC AGTATTTTATGTATACTATATGTGCTATATGATATACACGTATCATATGC CATGATATACGTATATTATACATCATATATAAAAACATATTTTTATATAA AATAAATCAGTATTTTATGTATATTATATGTGCTATATGATATACACGTA TCATATGCCATGATATACGTATATTATACATCATATATAAAAACATATTT TTATATAAAATATCAGTATTTTATGTATACTATATGTGCTATATGATATA CACGTATCATATGCCATGATATACGTATATTATACATCATATATAAAAAC ATATTTTTATATAAAATATCAGTATTTTATGTATACTATATGTGCTATAT GATATACACGTATCATATGCCATGATATACGTATATTATACATCATATAT AAAAACATATTTTTATATAAAATATCAGTATTTTATGTATACTATATGTG CTATATGATATACACGTATCATATGCCATGATATACGTATATTATACATC ATATATAAAAACATATTTTTATATAAAATATCAGTATTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	350	0.0029	738	c.181 others(755): Show c.181+2100_181+2101insAAATACTGATATTTTATATAAAAATATG TTTTTATATATGATGTATAATATACGTATATCATGGCATATGATACGTGT ATATCATATAGCACATATAGTATACATAAAATACTGATATTTTATATAAA AATATGTTTTTATATATGATGTATAATATACGTATATCATGGCATATGAT ACGTGTATATCATATAGCACATATAGTATACATAAAATACTGATATTTTA TATAAAAATATGTTTTTATATATGATGTATAATATACGTATATCATGGCA TATGATACGTGTATATCATATAGCACATATAGTATACATAAAATACTGAT ATTTTATATAAAAATATGTTTTTATATATGATGTATAATATACGTATATC ATGGCATATGATACGTGTATATCATATAGCACATATAATATACATAAAAT ACTGATTTATTTTATATAAAAATATGTTTTTATATATGATGTATAATATA CGTATATCATGGCATATGATACGTGTATATCATATAGCACATATAGTATA CATAAAATACTGATATTTTATATAAAAATATGTTTTTATATATGATGTAT AATATACGTATATCATGGCATATGATACGTGTATATCATATAGCACATAT AATATACATAAAATACTGATATTTTATATAAAAATATGTTTTTATATATG ATGTATAATATACGTATATCATGGCATATGATACGTGTATATCATATAGC ACATATCATA	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	1/12			chr12	TogoVar
ANKRD28_chr3_15662236_15802979	15742674	A A	AGCCAGCC others(731): Show AGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCACCGTCTGGGAGGGAGGTGGGGGGGGGGTCAGTCTCCCCCC GGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGTGAAGTGAGGATCCCCTCTGCCCGGCCAGCCGCCCCATCCGGGAA GGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCATCTGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGAG GGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGT GAGGGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCT CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCAGGCTAGCCGCCCCGTCTG GGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCAGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGAGGGGTCAGCCCCCCGCCCGGCCAGCCG CCCTGTCCGGGAGGGAGGTGGGGGGTTCAGCCCCCGCCC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0287 a0001c0003t0005g0287	1	340	0.0029	738	c.352 others(755): Show c.352-5442_352-5441insGGGCGGGGGCTGAACCCCCCACCTCCCT CCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCTCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCGCCGGGCGGGGGGCTGACCCCC CACCTCCCTCCCAGACGGGGCGGCTAGCCTGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGAGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGTGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGGGCGGGGGGGCTGACCC CCCCCACCTCCTTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGATCCTC ACTTCACAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGGGGAGACTGACCCCCCCCCCACCTCCCTCCCAGACG GTGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGC	ANKRD28	ENSG00000206560.12	transcript	ENST00000683139.1	protein_coding	4/27			chr3	TogoVar
ANXA2_chr15_60342151_60402986	60349957	C C	CAGGGGAA others(731): Show CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAA GGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	334	0.0030	738	c.838 others(753): Show c.838-761_838-760insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGC CTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCC CTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350015	G G	GGAAGGCA others(731): Show GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAAGGAGGCA GGAGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGA	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	334	0.0030	738	c.838 others(753): Show c.838-819_838-818insTCCTGCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCTCCTGCCTCCTTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCC CTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTC	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350083	G G	GAGGGGAA others(731): Show GAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAA GGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGG CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	334	0.0030	738	c.838 others(753): Show c.838-887_838-886insGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350155	C C	CAGGGGAA others(731): Show CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAA GGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG CAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	334	0.0030	738	c.838 others(753): Show c.838-959_838-958insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(731): Show GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGAA AGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAA GGGAAGGGAAAGGGAAGGGAAAGGAAGGGAAGGGGAAGGGAAGGGGAAAA GGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGAAGGGGAAAAG GAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGAAAAGGAAGGGAAGGGA AGGGGAAGGGAAGGGAAGGGAATGGGAAAAGGAAGGGAAGGGAAAAGGAA GGGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGG GAAGGGAAGGGAAAGGGAAGGGAAAGGAAAGGGAAAGGGAAAGGGAAGGG GAAGGGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGAAAAG TAAGGGAAAGGAGAGGGAAGGGAAAGGGAGGGGAAGGGAAGGGGAAGGGG AAGGAAAAGGAAGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGCAAA GGGAAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGAGGGAGGA AGGAAGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGGAGGGGAAG AGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGAAGGGAGGAAGGAAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	242	0.0041	738	c.927 others(755): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCTTTTTCTTCTCTTCCCTC CCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCAT CCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTTC CTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCCT TCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCTCT CCTTTCCCTTACTTTTCCTTCCCCTTCCCTTCCCCTTCCCCTTCCCTTCC CCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTTCCTTTCCCTTCCCTTT CCCTTCCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCC TTCCCTTCCCCTTCCTTTTCCCTTCCCTTCCTTTTCCCATTCCCTTCCCT TCCCTTCCCCTTCCCTTCCCTTCCTTTTCCCTTCCCTTCCCCTTCCCTTC CCCTTCCCTTCCTTTTCCCCTTCCTTTCCCCTTTCCTTCCCTTCCCTTCC CCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCTTTCCCTTCCC TTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCC TTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCCTT CCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(731): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGA AGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAA GGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAA GGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAAAAGGAA GGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAGGGAAG GGGAAGGGAAGGGAAGGGAATGGGACAAGGAAGGGGAAGGGAAAAGGAAG GGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGGG AAGGGAAGGGAAAGGGAAGGGAAAGGGGAAGGGAAAGGGAAAGGGAAGGG GAAGGGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGAAAA GTAAGGGAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGGAAGG GGAAGGAAAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGC AAAGGGAAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGAGGGA GGAAGGAAGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGGAGGGG AAGAGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	242	0.0041	738	c.927 others(755): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCTCCCC TCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCATCCG TCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTTCCTT TCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCCCTTC CTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCCTCTC CTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCCTTCC CCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCCTTTCCCTTCCCTT TCCCTTCCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCC CTTCCCTTCCCCTTCCTTTTCCCTTCCCCTTCCTTGTCCCATTCCCTTCC CTTCCCTTCCCCTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCC TTCCCCTTCCCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCC TTCCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCC TTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCT TCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCTTCCCTTC CCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(731): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGA AGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAA GGGAAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAG GGGAAAAGGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAG GGGAAAAGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAA GGGAAGGGAAGGGGAAGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAG GGAAAAGGAAGGGGAAGGGAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGA AGGGAAAGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAAGGGAAGGGGA AGGGAAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGAAAAGTAAGGGA AAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGGAAGGGGAAGGAA AAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGCAAAGGGAA AGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGAGGGAGGAAGGAA GGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGGAGGGGAAGAGAGG GGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0085 a0001c0003t0003g0085	1	242	0.0041	738	c.927 others(755): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTT CCCTCCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCG TCCATCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCC CTTTCCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCT TCCCCTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTT CCCCTCTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCT TCCCTTTCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCCCT TCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCTCCCTTCCC CTTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTTCCCTTCCCTTCCC CTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCC TTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCTTCCC TTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCCC TTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCT TCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCCTTCCCTTC CCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(731): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGA AAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAA AGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAAGGGAA AAGGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAA AAGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAA GGGAAGGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAAAGGAA GGGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGG GAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAAGGGAAAGGGAAGGG GAAGGGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGAAAA GTAAGGGAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGGAAGG GGAAGGAAAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGC AAAGGGAAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGAGGGA GGAAGGAAGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGGAGGGG AAGAGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	242	0.0041	738	c.927 others(755): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCTCCCC TCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCATCCG TCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTTCCTT TCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCCCTTC CTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCCTCTC CTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCCTTCC CCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCCCTTT CCCTTCCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCC TTCCCTTCCCCTTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTTCCC TTCCCCTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCC TTCCCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCC TTCCCTTCCTTTTCCCTTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCT TTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCCT TCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCCTTC CCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(731): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGA AAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAA AGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAA AAGGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAA AAGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAA GGGAAGGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAAAGGAA GGGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGG GAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAAGGGAAAGGGAAGGG GAAGGGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGAAAA GTAAGGGAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGGAAGG GGAAGGAAAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGC AAAGGGAAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGAGGGA GGAAGGAAGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGGAGGGG AAGAGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01074.hp2 HG01175.hp2 others(16): Show HG00280.hp2 HG01074.hp2 HG01175.hp2 HG01192.hp1 HG01981.hp1 HG01993.hp2 HG02148.hp2 HG02622.hp2 HG02723.hp2 HG02735.hp2 HG03834.hp2 HG04228.hp2 NA18946.hp1 NA18948.hp2 NA18966.hp2 NA18983.hp2 NA19066.hp2 NA19090.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0129 others(16): Show a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0179 a0001c0001t0001g0221 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0018g0122	19	242	0.0785	738	c.927 others(755): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCTCCCC TCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCATCCG TCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTTCCTT TCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCCCTTC CTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCCTCTC CTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCCTTCC CCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCCCTTT CCCTTCCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCC TTCCCTTCCCCTTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTTCCC TTCCCCTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCC TTCCCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCC TTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCT TTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCCT TCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCCTTC CCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(731): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGA AAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAA AGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAA AAGGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAA AAGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAA GGGAAGGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAAAGGAA GGGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGG GAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAAGGGAAAGGGAAGGG GAAGGGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGAAAA GTAAGGGAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGGAAGG GGAAGGAAAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGC AAAGGGAAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGAGGGA GGAAGGAAGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGGAGGGG AAGAGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02074.hp2 HG04204.hp2 others(4): Show HG01934.hp1 HG02074.hp2 HG04204.hp2 NA18971.hp2 NA18983.hp1 NA19007.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0144 a0001c0001t0001g0154 a0001c0001t0001g0172 others(4): Show a0001c0001t0001g0144 a0001c0001t0001g0154 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0009g0145	7	242	0.0289	738	c.927 others(755): Show c.927+4528_927+4529insTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCTCCCC TCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCATCCG TCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTTCCTT TCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCCCTTC CTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCCTCTC CTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCCTTCC CCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCCCTTT CCCTTCCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCC TTCCCTTCCCCTTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTTCCC TTCCCCTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCC TTCCCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCC TTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCT TTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCCT TCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCCTTC CCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP39_chr8_144524179_144690846	144687405	A A	ACCCCGTG others(731): Show ACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCCGTGACCACG CACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCA CTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGA CCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGC GAGCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCC CGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACTG GCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCACTTCC CACCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACA CACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCA CTTCCCACCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGA CCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGC GAGCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCC CGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTG GCGGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCACTTCC CACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0028 a0001c0002t0009g0028	1	246	0.0041	738	c.-18 others(749): Show c.-1802_-1801insGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGG GGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTC GCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGG TCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAG TGCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTG TGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTG GGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGC CAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACG GGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTC GCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGG TCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAG TGCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTG CGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTG GGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCGCCGC CAGTGCGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCAC GGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1560		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687461	G G	GGTGAGCA others(731): Show GGTGAGCACTTCCCACCCCGTGACCACACATTTACAGTGAGCACTTCCCA CCCCTGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACAC ACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCAC TTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGAC CACACATTTACAGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTG AGCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCC CGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTA GCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCC CACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACA CATTTACAGTGAGCACTTCCCACCCCTGTGACCACACACTGGCGGTGAGC ACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTG ACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGG TGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACC CCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACT AGCGGTGAGCACTTCCCACCCCGTGACCACACATTTACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0098 a0001c0002t0001g0098	1	246	0.0041	738	c.-18 others(749): Show c.-1858_-1857insTGTAAATGTGTGGTCACGGGGTGGGAAGTGCTCA CCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGT CACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGT GCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGT GTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGG GAAGTGCTCACCGCCAGTGTGTGGTCACAGGGGTGGGAAGTGCTCACTGT AAATGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACG GGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTC ACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGG TCACGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGTGGGAA GTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACTGTAAAT GTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGT GGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCG CCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCAC AGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGTGGGAAGTGC TCAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1616		chr8	TogoVar
C4orf50_chr4_5954375_6023431	6004363	A A	ATGGTGAC others(731): Show ATGGTGACTGTGATGGTGATGGTGATGATGGTGATGGTGATGGTGATGAT GGTGATGATGGTGATGGTGATGATGTGATGGTGATGTTGATGATGGTGGT GATGGTGATGATGTGATGGCGATGATAGTGATGATGGTGATGATGGTGAT GGTGATGATGTGATGGTGATGATGTGATAGTGATGATGGTGATGATGCTG ATGGTGATGATGGTGATAGTGATGATGGTGATGGTGATGATGGTGATGAT GGTGATGATGGTGATGGTGATTATGGTGATGATGGGATGGTGATGTTGAT GATGGTGGTGATGGTGATGATGTGATGGCGATGATAGTGATGATGGTGAT GATGGTGATGGTGATGATGTGATGGTGATGATAGTGATGATGGTGATGAT GGTGATGATGGTGATGGTGATGATGATGGTGATGATAGTGATGATGGTGA TGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGATGGTGATG ATGGTGACGGTGATGATGTGATGGTGATGATGGTGATGATGGTGATGGTG ATGATGGTGATGGTGATGATGGTGATGATGGTGATGGTGATGATGGTGAT GATGTGATGGTGATGATGTTGATGATGGTGATGATGGTGATGATGGTGAT GGTGATGATGGTGATGGTGATGATGGTGATGATGTTGATGATGGTGATGA TGGTGATGATGGTGATGGTGATGATAGTGATGATGGTGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0023 a0023	a0023c0056 a0023c0056	a0023c0056t0000 a0023c0056t0000	a0023c0056t0000g0042 a0023c0056t0000g0042	1	346	0.0029	738	c.963 others(755): Show c.963+3632_963+3633insCCACCATCATCACTATCATCACCATCAC CATCATCACCATCATCACCATCATCAACATCATCACCATCATCACCATCA CCATCATCACCATCACCATCATCACCATCATCACCATCATCAACATCATC ACCATCACATCATCACCATCATCACCATCACCATCATCACCATCATCACC ATCACCATCATCACCATCACCATCATCACCATCATCACCATCACATCATC ACCGTCACCATCATCACCATCATCACCATCATCACCATCACCATCATCAC CATCACCATCATCACCATCATCACTATCATCACCATCATCATCACCATCA CCATCATCACCATCATCACCATCATCACTATCATCACCATCACATCATCA CCATCACCATCATCACCATCATCACTATCATCGCCATCACATCATCACCA TCACCACCATCATCAACATCACCATCCCATCATCACCATAATCACCATCA CCATCATCACCATCATCACCATCATCACCATCACCATCATCACTATCACC ATCATCACCATCAGCATCATCACCATCATCACTATCACATCATCACCATC ACATCATCACCATCACCATCATCACCATCATCACTATCATCGCCATCACA TCATCACCATCACCACCATCATCAACATCACCATCACATCATCACCATCA CCATCATCACCATCATCACCATCACCATCACCATCATCACCATCACCATC ACAGTCACCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
CABP5_chr19_48024383_48049079	48043533	C C	CCACCACC others(731): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCTCACC ATCACCACCACCATCATCATCACCATCACCACCATCACCACCATCTCACC ATCACCATCACCACCACCATCACCACCACCATCACCACCACCATCACCAT CACCATCACCACCACCACCATCACCACCAGCACCACCAGCACCACCACCA TCAACATCATCATCATCACCACCATCACCACCATCATCACCACCACCGTC ATCACCACCAGCACCACCATCACCACCACCATCACCACCATCTCACCATC ATCACCATCACCATCACCATCACCACCATCTCACCATCACCATCACCACC ATCATCACCACCACCATCTCACCATCACCATCACCACCATCATCACCACC ACCATCACCACCACCATCACCATCACCATCACCACCATCATCATCACCAC CATCACCACCACCACCACCACCATCATCACCACCATCACCACCACCATCA CCATCACCATCACCACCATCATCATCACCACCATCACCACCACCACCACC ACCATCATCACCATCACCACCAGCACCACCACCAACATCATCATCATCAC CACCACCACCACCATCACCACCACCACCACCATCAACACCACCATCACCA CCACCATCATCATCACCACCACCACCATCACCACCATCT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0073 a0007c0015t0073	a0007c0015t0073g0179 a0007c0015t0073g0179	1	376	0.0027	738	c.63+ others(751): Show c.63+326_63+327insAGATGGTGGTGATGGTGGTGGTGGTGATGATG ATGGTGGTGGTGATGGTGGTGTTGATGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGATGATGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGA TGATGGTGGTGGTGGTGGTGGTGATGGTGGTGATGATGATGGTGGTGATG GTGATGGTGATGGTGGTGGTGATGGTGGTGATGATGGTGGTGGTGGTGGT GGTGATGGTGGTGATGATGATGGTGGTGATGGTGATGGTGATGGTGGTGG TGATGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGAGATGGTGGTGG TGATGATGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTGATGGTGA TGGTGATGATGGTGAGATGGTGGTGATGGTGGTGGTGATGGTGGTGCTGG TGGTGATGACGGTGGTGGTGATGATGGTGGTGATGGTGGTGATGATGATG ATGTTGATGGTGGTGGTGCTGGTGGTGCTGGTGGTGATGGTGGTGGTGGT GATGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGA TGGTGATGGTGAGATGGTGGTGATGGTGGTGATGGTGATGATGATGGTGG TGGTGATGGTGAGATGGTGGTGATGGTGGTGGTGGTGGTTATGGTGGTGG TGGTGGTGATGATGGTGATGATGATGGTGTTGATGATGGTGATGATGATG GTGGTG	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	1/5			chr19	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGCC others(731): Show ATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCA TGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCG GCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGG TCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGA CGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGT AGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCG AGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGG GCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGG CGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGG GGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGT GGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTA CGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGG GTACGTGGGGGGCGGGCGAGTAGACGGTCAGCATGCATAGGGCCGGGGGC GGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGA GGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0002 a0002c0011t0002	a0002c0011t0002g0203 a0002c0011t0002g0203	1	338	0.0030	738	c.300 others(755): Show c.300-9309_300-9308insCCGGAGGCGGGGTACGTGGGGGGCGGGC GAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCG GGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGG GCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGG GGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACG TGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGT ACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGAGGCGG GGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGG CGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGG AGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGC CGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAG GGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCA TAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGTCAGCAT GCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTCGG CATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGCGAGTAGACGGC ATGTGTAGGG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC183_chr9_136791338_136812741	136803282	T T	TGGGGCCC others(731): Show TGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGC CAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCGGGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGCCCCCCAGGGCGGGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCGGGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0018 a0018	a0018c0033 a0018c0033	a0018c0033t0001 a0018c0033t0001	a0018c0033t0001g0185 a0018c0033t0001g0185	1	398	0.0025	738	c.666 others(753): Show c.666+511_666+512insCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCGGGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGCCCCCCAGGGCGGGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCGGGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCC CCCAGGGC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEP72_chr5_607340_658553	628573	G G	GGACCCAG others(731): Show GGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCTGGTTGCAGTT CCCGGGGAGTGTTCCCAGGACCCAGCGCCCTTCTTTGTGCAGCTTCTGGA GAACTCAGGTCGCAGTCCCCGGGGAGTGTTCCCAGGACCCAGCCCCCTTC TTTGTGCAGCGTTATGGAGAACTCAGGTCACGGTTCCTGGGGAGTGTTCC CAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTTGCAG TCCCCGGGGAGTGGCCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTG GAGAACTCTGGTTGCCGTCCCCGGGGAGTGTTCCCAGGACCCAGCCCCCT TCTTTGTGCAGCTTCTGGAGAACTCAGGTCGCAGTCCCTGGGGAGTGTTC CCAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTCGCC GTCCCCGGGGAGTGTTCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTTT GGAGAACTCAGGTTGCAGTCCCCGGGGAGTGGCCCCAGGACCCAGCCCCC TTCTTTGTGCAGCTTTTGGAGAACTCTGGTCGCCGTCCCCGGGGAGTGTT CCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTCGC CGTCCCCGGGGAGTGTTCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTC TGGAGAACTCAGGTCGCAGTCCCCGGGGAGTGTTCCCAC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0019 a0003c0005t0002g0019	1	91	0.0110	738	c.512 others(755): Show c.512+4032_512+4033insTGGTTGCAGTTCCCGGGGAGTGTTCCCA GGACCCAGCGCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTCGCAGTC CCCGGGGAGTGTTCCCAGGACCCAGCCCCCTTCTTTGTGCAGCGTTATGG AGAACTCAGGTCACGGTTCCTGGGGAGTGTTCCCAGGACCCAGCCCCCTT CTTTGTGCAGCTTCTGGAGAACTCAGGTTGCAGTCCCCGGGGAGTGGCCC CAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCTGGTTGCCG TCCCCGGGGAGTGTTCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTG GAGAACTCAGGTCGCAGTCCCTGGGGAGTGTTCCCAGGACCCAGCCCCCT TCTTTGTGCAGCTTCTGGAGAACTCAGGTCGCCGTCCCCGGGGAGTGTTC CCAGGACCCAGCCCCCTTCTTTGTGCAGCTTTTGGAGAACTCAGGTTGCA GTCCCCGGGGAGTGGCCCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTTT GGAGAACTCTGGTCGCCGTCCCCGGGGAGTGTTCCCAGGACCCAGCCCCC TTCTTTGTGCAGCTTCTGGAGAACTCAGGTCGCCGTCCCCGGGGAGTGTT CCCAGGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTCGC AGTCCCCGGGGAGTGTTCCCACGACCCAGCCCCCTTCTTTGTGCAGCTTC TGGAGAACTC	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(731): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGGGGGAGGAGGGGGAGCTGGGGAG GGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGGG GAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGA GGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGG AGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGGGGGAGGAGGGG GAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGAG CTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCT GGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCTGGG GAGGGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAG GGGGGAGGAGGGGGAGCTGGGGAGGGGAGGAGGGGGAGCTGGGGAGGGGA GGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGA GGGGGAGGAGGGAGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGG GGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCAGGGGAGGGGGGA GGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGA GGGGGAGCAGTGGAGGGGGGAGAAGAGGAGGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	168	0.0060	738	c.-26 others(747): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCACTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCC TCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTCC CCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCC TCCTCCCCTCCCCAGCTCCCCCTCCTCCCCTCCCCAGCTCCCCCTCCTCC CCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCC CTCCCCAGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTC CCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCC CAGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTG CTCCCCCTCCTCCCCCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCC CCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCC TCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTC CTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCC CCCCTCCCCAGCTCCCCCTCCTCCCCCCCCTGCTCCCCCTCCTCCCCCCT CC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
COG7_chr16_23383493_23458189	23454899	C C	CACTCAGG others(731): Show CACTCAGGAGGCAGAGGCAGGAGAATCGCTTGAACCTAGGAGGCAGAGGT TGCAGTGAACCGAGATCCGCCACTGCACTCCAGCCTGGGCAACAGACCGA GACTCCATCCCCCCCAAAAAAAAAAAAAAATCCTGCTGGGATTTTGACAG GGATTATGCTGAACTGTTGAATTGTTGGATTAATTTTAGGAGAATTGCCA TCATGACAATATTGACTGTTCCAATCCATAGCATGAAACGCCTCTTCATT TATTTAGATGGGAATTTTTCAGCCTTGGCACTACTGAGCCCAGATAATTT TTAGTTATGGGGGCTGTCCTATGCATTGTAAGATATTTCGCAGCATCCCT GGCCGCTACCCATTAGGAGCAACATCCTCTCCAAGTTGTGGCAACCAAAA ATCTGTCCACACAGTGCCAAGTGTTCCCTAGTAGGAATCACCCCTGGGGA TTTAGATCTGATTTAGATCTTCTTTAATTTCTCTCAGCAATATTTTGTAG TTTTCATTGTATAATACAAGTCTTGCACTTATTTTGTTAAATTTATTTAT TTATAAGTATTTCCTTTTCTAGGTGCAGTGGCTCATGCCTGCAATCCCAG CACTTTGGGAGGCCGAGGCAGGAGGATCACAAGGTCAGGAGTTCCATACA AGACTAGCCTGCCCAACATGGTGAAACCCCGTCTCTACTGAAAATACAAA AACAGCCTGGCGTGGTTGTGTGCACCTGTAATCCCAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG02257.hp2 HG02922.hp1 HG01934.hp1 HG02257.hp2 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0003 a0002c0002t0003 a0001c0003t0003 a0002c0002t0003	a0001c0003t0003g0137 a0002c0002t0003g0107 a0002c0002t0003g0112 a0001c0003t0003g0137 a0002c0002t0003g0107 a0002c0002t0003g0112	3	272	0.0110	738	c.-19 others(749): Show c.-1906_-1905insAGCTGGGATTACAGGTGCACACAACCACGCCAGG CTGTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTGGGCAGGCT AGTCTTGTATGGAACTCCTGACCTTGTGATCCTCCTGCCTCGGCCTCCCA AAGTGCTGGGATTGCAGGCATGAGCCACTGCACCTAGAAAAGGAAATACT TATAAATAAATAAATTTAACAAAATAAGTGCAAGACTTGTATTATACAAT GAAAACTACAAAATATTGCTGAGAGAAATTAAAGAAGATCTAAATCAGAT CTAAATCCCCAGGGGTGATTCCTACTAGGGAACACTTGGCACTGTGTGGA CAGATTTTTGGTTGCCACAACTTGGAGAGGATGTTGCTCCTAATGGGTAG CGGCCAGGGATGCTGCGAAATATCTTACAATGCATAGGACAGCCCCCATA ACTAAAAATTATCTGGGCTCAGTAGTGCCAAGGCTGAAAAATTCCCATCT AAATAAATGAAGAGGCGTTTCATGCTATGGATTGGAACAGTCAATATTGT CATGATGGCAATTCTCCTAAAATTAATCCAACAATTCAACAGTTCAGCAT AATCCCTGTCAAAATCCCAGCAGGATTTTTTTTTTTTTTTGGGGGGGATG GAGTCTCGGTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGATCTCGGTTCA CTGCAACCTCTGCCTCCTAGGTTCAAGCGATTCTCCTGCCTCTGCCTCCT GAGT	COG7	ENSG00000168434.13	transcript	ENST00000307149.10	protein_coding		1711		chr16	TogoVar
COG7_chr16_23383493_23458189	23455382	C C	CAGCAATA others(731): Show CAGCAATATTTTGTAGTTTTCATTGTATAATACAAGTCTTGCACTTATTT TGTTAAATTTATTTATTTATAAGTATTTCCTTTTCTAGGTGCAGTGGCTC ATGCCTGCAATCCCAGCACTTTGGGAGGCCGAGGCAGGAGGATCACAAGG TCAGGAGTTCCATACAAGACTAGCCTGCCCAACATGGTGAAACCCCGTCT CTACTGAAAATACAAAAACAGCCTGGCGTGGTTGTGTGCACCTGTAATCC CAGCTACTCAGGAGGCAGAGGCAGGAGAATCGCTTGAACCTAGGAGGCAG AGGTTGCAGTGAACCGAGATCCGCCACTGCACTCCAGCCTGGGCAACAGA CCGAGACTCCATCCCCCCCCAAAAAAAAAAAAAATCCTGCTGGGATTTTG ACAGGGATTATGTTGAACTGTTGAATTGTTGGATTAATTTTAGGAGAATT GCCATCATGACAATATTGACTGTTCCAATCCATAGCATGAAACGCCTCTT CATTTATTTAGATGGGAATTTTTCAGCCTTGGCACTACTGAGCCCAGATA ATTTTTAGTTATGGGGGCTGTCCTATGCATTGTAAGATATTTCGCAGCAT CCCTGGCCGCTACCCATTAGGAGCAACATCCTCTCCAAGTTGTGGCAACC AAAAATCTGTCCACACAGTGCCAAGTGTTCCCTAGTAGGAATCACCCCTG GGGATTTAGATCTGATTTAGATCTTCTTTAATTTCTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	272	0.0037	738	c.-23 others(749): Show c.-2389_-2388insAAGAGAAATTAAAGAAGATCTAAATCAGATCTAA ATCCCCAGGGGTGATTCCTACTAGGGAACACTTGGCACTGTGTGGACAGA TTTTTGGTTGCCACAACTTGGAGAGGATGTTGCTCCTAATGGGTAGCGGC CAGGGATGCTGCGAAATATCTTACAATGCATAGGACAGCCCCCATAACTA AAAATTATCTGGGCTCAGTAGTGCCAAGGCTGAAAAATTCCCATCTAAAT AAATGAAGAGGCGTTTCATGCTATGGATTGGAACAGTCAATATTGTCATG ATGGCAATTCTCCTAAAATTAATCCAACAATTCAACAGTTCAACATAATC CCTGTCAAAATCCCAGCAGGATTTTTTTTTTTTTTGGGGGGGGATGGAGT CTCGGTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGATCTCGGTTCACTGC AACCTCTGCCTCCTAGGTTCAAGCGATTCTCCTGCCTCTGCCTCCTGAGT AGCTGGGATTACAGGTGCACACAACCACGCCAGGCTGTTTTTGTATTTTC AGTAGAGACGGGGTTTCACCATGTTGGGCAGGCTAGTCTTGTATGGAACT CCTGACCTTGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTGCA GGCATGAGCCACTGCACCTAGAAAAGGAAATACTTATAAATAAATAAATT TAACAAAATAAGTGCAAGACTTGTATTATACAATGAAAACTACAAAATAT TGCT	COG7	ENSG00000168434.13	transcript	ENST00000307149.10	protein_coding		2194		chr16	TogoVar
COL21A1_chr6_56051590_56252580	56098126	T T	TATATAAA others(731): Show TATATAAATATATATAAATATAAATATATAAATATATATAAATAAATATA TATAAATATATATAAATATAAATATATATATAAATATGTAATTCTAAATA TATATGTAAATATATATAAATATAAATATATTATTTATAAATATATAAAT ATATATATATTTATAAATATATAAATATATATATATTTATAAATATATAA ATATATATATATTTATAAATATATAAATATATATAAAAATATATATAAAT ATATAAAAAATATAAATATATATAAATATATAAATATATGTAAATATATA TAAATATATATATAAATATATATATAAATATATATATAAATATATATATA AATATATATATATAAATATATATAAATATATAACTATATAAATAAATATA TATAAATATATAAATATATAAAAATATATATAAATATATATGTAAATATA TAAATATATATAAATATATATAAATATATATAAGTATATAAATATATATA AATATATATAAGTATATAAATATATATATAAATATATATAAGTATATAAA TATATATATAAATATATATAAGTATATAAATATATATAAATATATATTAG TATATAAATATATATATAAATATATATAAGTATATATAAATATATATAAA TATATATAAGTATATATAAATATATAAAAATATATATAAGTATATATAAA TATATATAAATATATATAAATATATGCAAATATATATAA	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	264	0.0038	738	c.181 others(757): Show c.1812+3345_1812+3346insTTATATATATTTGCATATATTTATAT ATATTTATATATATTTATATATACTTATATATATTTTTATATATTTATAT ATACTTATATATATTTATATATATTTATATATACTTATATATATTTATAT ATATATTTATATACTAATATATATTTATATATATTTATATACTTATATAT ATTTATATATATATTTATATACTTATATATATTTATATATATATTTATAT ACTTATATATATTTATATATATTTATATACTTATATATATTTATATATAT TTATATATATTTATATATTTACATATATATTTATATATATTTTTATATAT TTATATATTTATATATATTTATTTATATAGTTATATATTTATATATATTT ATATATATATATTTATATATATATTTATATATATATTTATATATATATTT ATATATATATTTATATATATTTACATATATTTATATATTTATATATATTT ATATTTTTTATATATTTATATATATTTTTATATATATTTATATATTTATA AATATATATATATTTATATATTTATAAATATATATATATTTATATATTTA TAAATATATATATATTTATATATTTATAAATAATATATTTATATTTATAT ATATTTACATATATATTTAGAATTACATATTTATATATATATTTATATTT ATATATATTTATATATATTTATTTATATATATTTATATATTTATATTTAT ATATATTTATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL27A1_chr9_114150537_114317511	114278403	T T	TGGTGATA others(731): Show TGGTGATAGTGGGGGTGGGAGTGGAGTGGAGGTGAGGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGATGGTGGTGGTGATGATGATGGTGGTG GTGATGGTGGTGGTGGTTGGTGGTGGTGATGATGGCGGGGGTGATGGTGG TGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTG GTGGTGATGATGATGGCGGGGGTGGTGGTGGTGGTGATGATGGCGGGGGT GATGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGG GGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGGTGATGATG GCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGAT GATGGCGGGGGTGGTGGTGGTGATGTTGATGGCGGGGGTGGTGGTGGTGA TGATGATGGCGGGGGTGGTGGTGGTGATGTTGATGGCGGGGGTGGTGGTG GTGATGATGATGGCAGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGT GGTGGTGATGTTGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGG TGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCG GGGGTGGTGGTGGTGATGTTGATGGCGGGGGTGGTGGTGGTGATGATGAT GGCGGGGGTGGTGGTGGTGGTGATGATGGTGGGGGTGGG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03130.hp2 HG02257.hp2 HG03130.hp2	a0001 a0012 a0001 a0012	a0001c0171 a0012c0159 a0001c0171 a0012c0159	a0001c0171t0006 a0012c0159t0008 a0001c0171t0006 a0012c0159t0008	a0001c0171t0006g0211 a0012c0159t0008g0007 a0001c0171t0006g0211 a0012c0159t0008g0007	2	308	0.0065	738	c.371 others(757): Show c.3717+2639_3717+2640insATAGTGGGGGTGGGAGTGGAGTGGAG GTGAGGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGT GGTGATGATGATGGTGGTGGTGATGGTGGTGGTGGTTGGTGGTGGTGATG ATGGCGGGGGTGATGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGAT GATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGG TGGTGATGATGGCGGGGGTGATGGTGGTGATGATGATGGCGGGGGTGGTG GTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGT GGTGGTGGTGGTGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGG GGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGTTGATG GCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGTT GATGGCGGGGGTGGTGGTGGTGATGATGATGGCAGGGGTGGTGGTGGTGA TGATGATGGCGGGGGTGGTGGTGGTGATGTTGATGGCGGGGGTGGTGGTG GTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGT GGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGTTGATGGCGGGGG TGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGGTGATGATGGTG GGGGTGGGGGTG	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	37/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
CTDP1_chr18_79674803_79759503	79726785	G G	GGCTGTGG others(731): Show GGCTGTGGGGGTGGGGTGACGCCGTTGCTGGTGGACTGCTGTCGGGGTGG GGTGACGCCGTTGCTGGTGGACGGCTGTGGGGGATGGGGGTGACACCATT GCTGGTGGACTGCTGTGGGGGAAGGGGGTGACGCCGTTGCTGGTGGACGG CTGTGGGGGATGGGGGTGACGCCATTGCTGGTGGACGGCTGTGGGGGTGG GGTGACGCCGTTGCTGGTGGACGGCTGTGGGGGATGGGGGTGACGCCGTT GCTGGTGGACGGCTGTGGGGGATGGGGGTGACGCCATTGCTGGTGGACGG CTGTGGGGGTGGGGTGACGCCGTTGCTGGTGGACGTCTGTGGGGGTGGGG TGACGCCGTTGCTGGTGGACTGCTGTGGGGGTGGGGTGACGCCGTTGCTG GTGGATGGCTGTCAGGGTGGGGTGACGCCGTTGCTGGTGGACGGCTGTGG GGGATGGGGGTGACGCCATTGCTGGTGGACGGCTGTGGGGGTGGGGTGAC GCCGTTGCTGGTGGATGGCTGTCGGGGTGGGGTGACGCCGTTGCTGGTGG ACGGCTGTGGGGGATGGGGGTGACGCCATTGCTGGTGGACGGCTGTGGGG GTGGGGTGACGCCGTTGCTGGTGGACGGCTGTGGGGGATGGGGGTGACAC CATTGCTGGTGGACTGCTGTGGGGGTGGGGTGACGCCGTTGCTGGTGGAT GGCTGTCGGGGATGGGGGTGACACCATTGCTGGTGGACT	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0318 a0004c0004t0001g0318	1	378	0.0027	738	c.241 others(757): Show c.2418-2112_2418-2111insTGGGGTGACGCCGTTGCTGGTGGACT GCTGTCGGGGTGGGGTGACGCCGTTGCTGGTGGACGGCTGTGGGGGATGG GGGTGACACCATTGCTGGTGGACTGCTGTGGGGGAAGGGGGTGACGCCGT TGCTGGTGGACGGCTGTGGGGGATGGGGGTGACGCCATTGCTGGTGGACG GCTGTGGGGGTGGGGTGACGCCGTTGCTGGTGGACGGCTGTGGGGGATGG GGGTGACGCCGTTGCTGGTGGACGGCTGTGGGGGATGGGGGTGACGCCAT TGCTGGTGGACGGCTGTGGGGGTGGGGTGACGCCGTTGCTGGTGGACGTC TGTGGGGGTGGGGTGACGCCGTTGCTGGTGGACTGCTGTGGGGGTGGGGT GACGCCGTTGCTGGTGGATGGCTGTCAGGGTGGGGTGACGCCGTTGCTGG TGGACGGCTGTGGGGGATGGGGGTGACGCCATTGCTGGTGGACGGCTGTG GGGGTGGGGTGACGCCGTTGCTGGTGGATGGCTGTCGGGGTGGGGTGACG CCGTTGCTGGTGGACGGCTGTGGGGGATGGGGGTGACGCCATTGCTGGTG GACGGCTGTGGGGGTGGGGTGACGCCGTTGCTGGTGGACGGCTGTGGGGG ATGGGGGTGACACCATTGCTGGTGGACTGCTGTGGGGGTGGGGTGACGCC GTTGCTGGTGGATGGCTGTCGGGGATGGGGGTGACACCATTGCTGGTGGA CTGCTGTGGGGG	CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
EEF1A2_chr20_63483014_63504083	63492159	T T	TGGATAGG others(731): Show TGGATAGGTGGATGGGTGGATGGACAGAAGGATGAATGGGTAGGGAGATG GATGGATGGATGGATGGGGAGGGATGGATGGATGGATGGATGGATGGGTG GATGGATAGAAGGATGGATGGGTGGGGAGGTGGGTGGGTGGGTGGATGGA TGGAGAGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGAGA GAAGGATGGATGGGTGGGGAGGTGGGTGGGTGGGTGGATGGGTGGATGGA TGGATGGGTGGGGAGGTGGGCGGGTGGATGGATGGATGGATGCAGAGGTG GGTGGATGGATGGATGGAGAGAAGGATGGATGGGTGGGGAGGTGGGTGGG TGGATGGATGGATGAGTGGGGAGGTGGGTGGGTGGATGGATGGATGGATG GATGCATGGATGGATGGATGGAGAGGTGGGTGGACGGATGGATGGATTGG GAGGTGGGTAGATGGGTGGATGGACAGAAGGATGGATGGGTGGGGAGGTG GGTGGGTGGGTGGATGGATGGATGGGGAGGTGGATGGATGGATGGTTAGA TGGGGAGGTGGGTGGATGGGTGGATGGACAGAAGGATGGATGGGTAGGGA GGTAGGTGAGTGGATGGATGGATGGGGAGATGGATGGATGGATAGAGAGA AGGATGGATGGGTGGGACAATGGATGGATGGATGGATAGAAGGATGGACG GGTGGGGACATGGATGGATGGATGGATGGATGGACAGAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0136 a0001c0005t0001g0136	1	374	0.0027	738	c.772 others(753): Show c.772+977_772+978insTTCTGTCCATCCATCCATCCATCCATCCAT GTCCCCACCCGTCCATCCTTCTATCCATCCATCCATCCATTGTCCCACCC ATCCATCCTTCTCTCTATCCATCCATCCATCTCCCCATCCATCCATCCAC TCACCTACCTCCCTACCCATCCATCCTTCTGTCCATCCACCCATCCACCC ACCTCCCCATCTAACCATCCATCCATCCACCTCCCCATCCATCCATCCAC CCACCCACCCACCTCCCCACCCATCCATCCTTCTGTCCATCCACCCATCT ACCCACCTCCCAATCCATCCATCCGTCCACCCACCTCTCCATCCATCCAT CCATGCATCCATCCATCCATCCATCCACCCACCCACCTCCCCACTCATCC ATCCATCCACCCACCCACCTCCCCACCCATCCATCCTTCTCTCCATCCAT CCATCCACCCACCTCTGCATCCATCCATCCATCCACCCGCCCACCTCCCC ACCCATCCATCCATCCACCCATCCACCCACCCACCCACCTCCCCACCCAT CCATCCTTCTCTCCATCCATCCATCCATCCATCCATCTATCCATCTATCC ATCTCTCCATCCATCCACCCACCCACCCACCTCCCCACCCATCCATCCTT CTATCCATCCACCCATCCATCCATCCATCCATCCATCCCTCCCCATCCAT CCATCCATCCATCTCCCTACCCATTCATCCTTCTGTCCATCCACCCATCC ACCTATCC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63492159	T T	TGGATAGG others(731): Show TGGATAGGTGGATGGGTGGATGGACAGAAGGATGAATGGGTAGGGAGATG GATGGATGGATGGATGGGGAGGGATGGATGGATGGATGGATGGATGGGTG GATGGATAGAAGGATGGATGGGTGGGGAGGTGGGTGGGTGGGTGGATGGA TGGAGAGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGAGA GAAGGATGGATGGGTGGGGAGGTGGGTGGGTGGGTGGATGGGTGGATGGA TGGATGGGTGGGGAGGTGGGCGGGTGGATGGATGGATGGATGCAGAGGTG GGTGGATGGATGGATGGAGAGAAGGATGGATGGGTGGGGAGGTGGGTGGG TGGATGGATGGATGAGTGGGGAGGTGGGTGGGTGGATGGATGGATGGATG GATGCATGGATGGATGGATGGAGAGGTGGGTGGACGGATGGATGGATTGG GAGGTGGGTAGATGGGTGGATGGACAGAAGGATGGATGGGTGGGGAGGTG GGTGGGTGGGTGGATGGATGGATGGGGAGGTGGATGGATGGATGGTTAGA TGGGGAGGTGGGTGGATGGGTGGATGGACAGAAGGATGGATGGGTAGGGA GGTAGGTGAGTGGATGGATGGATGGGGAGATGGATGGATGGATAGAGAGA AGGATGGATGGGTGGGACAATGGATGGATGGATGGATAGAAGGATGGACG GGTGGGGAGATGGATGGATGGATGGATGGATGGACAGAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02622.hp2 NA19240.hp2 HG02280.hp1 HG02622.hp2 NA19240.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0036 a0001c0007t0003g0085 a0001c0007t0003g0036 a0001c0007t0003g0085	3	374	0.0080	738	c.772 others(753): Show c.772+977_772+978insTTCTGTCCATCCATCCATCCATCCATCCAT CTCCCCACCCGTCCATCCTTCTATCCATCCATCCATCCATTGTCCCACCC ATCCATCCTTCTCTCTATCCATCCATCCATCTCCCCATCCATCCATCCAC TCACCTACCTCCCTACCCATCCATCCTTCTGTCCATCCACCCATCCACCC ACCTCCCCATCTAACCATCCATCCATCCACCTCCCCATCCATCCATCCAC CCACCCACCCACCTCCCCACCCATCCATCCTTCTGTCCATCCACCCATCT ACCCACCTCCCAATCCATCCATCCGTCCACCCACCTCTCCATCCATCCAT CCATGCATCCATCCATCCATCCATCCACCCACCCACCTCCCCACTCATCC ATCCATCCACCCACCCACCTCCCCACCCATCCATCCTTCTCTCCATCCAT CCATCCACCCACCTCTGCATCCATCCATCCATCCACCCGCCCACCTCCCC ACCCATCCATCCATCCACCCATCCACCCACCCACCCACCTCCCCACCCAT CCATCCTTCTCTCCATCCATCCATCCATCCATCCATCTATCCATCTATCC ATCTCTCCATCCATCCACCCACCCACCCACCTCCCCACCCATCCATCCTT CTATCCATCCACCCATCCATCCATCCATCCATCCATCCCTCCCCATCCAT CCATCCATCCATCTCCCTACCCATTCATCCTTCTGTCCATCCACCCATCC ACCTATCC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
EGFL7_chr9_136657916_136677678	136675470	C C	CAGCAGGG others(731): Show CAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGA GGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGG CCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGT AGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGG ACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGC AGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGA GGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAG CAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGC TGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTG GCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGG AGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGG GCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGG TAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGG GACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAG CAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18990.hp2 NA19005.hp1 others(1): Show NA18951.hp2 NA18990.hp2 NA19005.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0122 a0001c0001t0001g0001 a0001c0001t0001g0122	4	432	0.0093	738	c.31 others(749): Show c.3184_*3185insAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGG GACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAG CAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGG AGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCA GCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGG CTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACT GGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGG GAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGG GGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAG GTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGG GGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGA GCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGG GAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCC AGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAG GCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGAC TGGG	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		2793		chr9	TogoVar
FAM118A_chr22_45304934_45346955	45328345	G G	GGCAGAAC others(731): Show GGCAGAACAAGCCCATGGAGTCTCTGGACTTGAAGGACAAGACCAAGGTA CGGGCTGGGGGTGCGGGAGGCCTTTGGCCGGCAGCAGAACAAGCCCATGG AGTCCCTGGACTTGAAGGACAAGACCAAGGTGTGGGCTGGGGGTGCGGGA GGCCTTTGGCCGGCAGCAGAACAAGCCCATGGAGTCCCTGGACTTGAAGG ACAAGACCAAGGTGTGGGCTGGGGGTGCTGGAGGCCTTTGGCCGGCGGCA GAACAAGCCCATGGAGTCCCTGGACTTGAAGGACAAGACCAAGGTACGGG CTGGGGGTGCGGGAGGCCTTTGGCCGGCAGCAGAACAAGCCCATGGAGTC TCTGGACTTGAAGGACAAGACCAAGGTGTGGGCTGGGGGTGCGGGAGGCC TTTGGCCGGCAGCAGAACAAGCCCATGGAGTCCCTGGACTTGAAGGACAA GACCAAGGTGTGGGCTGGGGGTGCGGGAGGCCTTTGGCCGGCAGCAGAAC AAGCCCATGGAGTCCCTGGACTTGAAGGACAAGACCAAGGTACGGGCTGG GGGTGCGGGAGGCCTTTGGCCGGCAGCAGAACAAGCCCATGGAGTCTCTG GACTTGAAGGACAAGACCAAGGTGTGGGCTGGGGGTGCGGGAGGCCTTTG GCCGGCAGCAGAACAAGCCCATGGAGTCTCTGGACTTGAAGGACAAGACC AAGGTGTGGGCTGGGGGTGCGGGAGGCCTTTGGCCGGCA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0143 a0002c0002t0002g0143	1	416	0.0024	738	c.522 others(753): Show c.522+303_522+304insTCTGGACTTGAAGGACAAGACCAAGGTACG GGCTGGGGGTGCGGGAGGCCTTTGGCCGGCAGCAGAACAAGCCCATGGAG TCCCTGGACTTGAAGGACAAGACCAAGGTGTGGGCTGGGGGTGCGGGAGG CCTTTGGCCGGCAGCAGAACAAGCCCATGGAGTCCCTGGACTTGAAGGAC AAGACCAAGGTGTGGGCTGGGGGTGCTGGAGGCCTTTGGCCGGCGGCAGA ACAAGCCCATGGAGTCCCTGGACTTGAAGGACAAGACCAAGGTACGGGCT GGGGGTGCGGGAGGCCTTTGGCCGGCAGCAGAACAAGCCCATGGAGTCTC TGGACTTGAAGGACAAGACCAAGGTGTGGGCTGGGGGTGCGGGAGGCCTT TGGCCGGCAGCAGAACAAGCCCATGGAGTCCCTGGACTTGAAGGACAAGA CCAAGGTGTGGGCTGGGGGTGCGGGAGGCCTTTGGCCGGCAGCAGAACAA GCCCATGGAGTCCCTGGACTTGAAGGACAAGACCAAGGTACGGGCTGGGG GTGCGGGAGGCCTTTGGCCGGCAGCAGAACAAGCCCATGGAGTCTCTGGA CTTGAAGGACAAGACCAAGGTGTGGGCTGGGGGTGCGGGAGGCCTTTGGC CGGCAGCAGAACAAGCCCATGGAGTCTCTGGACTTGAAGGACAAGACCAA GGTGTGGGCTGGGGGTGCGGGAGGCCTTTGGCCGGCAGCAGAACAAGCCC ATGGAGTC	FAM118A	ENSG00000100376.12	transcript	ENST00000441876.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
FAM118A_chr22_45304934_45346955	45328367	C C	CCTGGACT others(731): Show CCTGGACTTGAAGGACAAGACCAAGGTACGGGCTGGGGGTGCGGGAGGCC TTTGGCCGGCAGCAGAACAAGCCCATGGAGTCCCTGGACTTGAAGGACAA GACCAAGGTGTGGGCTGGGGGTACGGGAGGCCTTTGGCCGGCAGCAGAAC AAGCCCATGGAGTCCCTGGACTTGAAGGACAAGACCAAGGTGTGGGCTGG GGGTGCGGGAGGCCTTTGGCCGGCGGCAGAACAAGCCCATGGAGTCCCTG GACTTGAAGGACAAGACCAAGGTGTGGGCTGGGGGTGCGGGAGGCCTTTG GCCGGCAGCAGAACAAGCCCATGGAGTCCCTGGACTTGAAGGACAAGACC AAGGTGTGGGCTGGGGCTGCGGGAGGCCTTTGGCCGGCAGCAGAACAAGC CCATGGAGTCCCTGGACTTGAAGGACAAGACCAAGGTGTGGGCTGGGGGT GCGGGAGGCCTTTGGCCGGCAGCAGAACAAGCCCATGGAGTCTCTGGACT TGAAGGACAAGACCAAGGTGTGGGCTGGGGGTGCGGGAGGTCTTTGGCCG GCAGCAGAACAAGCCCATGGAGTCTCTGGACTTGAAGGACAAGACCAAGG TGTGGGCTGGGGGTGCGGGAGGTCTTTGGCCGGCAGCAGAACAAGCCCAT GGAGTCTCTGGACTTGAAGGACAAGACCAAGGTGTGGGCTGGGGGTGCGG GAGGTCTTTGGCCGGCAGCAGAACAAGCCCATGGAGTCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0067 a0002c0002t0002g0067	1	416	0.0024	738	c.522 others(753): Show c.522+330_522+331insACGGGCTGGGGGTGCGGGAGGCCTTTGGCC GGCAGCAGAACAAGCCCATGGAGTCCCTGGACTTGAAGGACAAGACCAAG GTGTGGGCTGGGGGTACGGGAGGCCTTTGGCCGGCAGCAGAACAAGCCCA TGGAGTCCCTGGACTTGAAGGACAAGACCAAGGTGTGGGCTGGGGGTGCG GGAGGCCTTTGGCCGGCGGCAGAACAAGCCCATGGAGTCCCTGGACTTGA AGGACAAGACCAAGGTGTGGGCTGGGGGTGCGGGAGGCCTTTGGCCGGCA GCAGAACAAGCCCATGGAGTCCCTGGACTTGAAGGACAAGACCAAGGTGT GGGCTGGGGCTGCGGGAGGCCTTTGGCCGGCAGCAGAACAAGCCCATGGA GTCCCTGGACTTGAAGGACAAGACCAAGGTGTGGGCTGGGGGTGCGGGAG GCCTTTGGCCGGCAGCAGAACAAGCCCATGGAGTCTCTGGACTTGAAGGA CAAGACCAAGGTGTGGGCTGGGGGTGCGGGAGGTCTTTGGCCGGCAGCAG AACAAGCCCATGGAGTCTCTGGACTTGAAGGACAAGACCAAGGTGTGGGC TGGGGGTGCGGGAGGTCTTTGGCCGGCAGCAGAACAAGCCCATGGAGTCT CTGGACTTGAAGGACAAGACCAAGGTGTGGGCTGGGGGTGCGGGAGGTCT TTGGCCGGCAGCAGAACAAGCCCATGGAGTCTCTGGACTTGAAGGACAAG ACCAAGGT	FAM118A	ENSG00000100376.12	transcript	ENST00000441876.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
FAM118A_chr22_45304934_45346955	45328367	C C	CCTGGACT others(731): Show CCTGGACTTGAAGGACAAGACCAAGGTGTGGGCTGGGGGTGCTGGAGGCC TTTGGCCGGCGGCAGAACAAGCCCATGGAGTCTCTGGACTTGAAGGACAA GACCAAGGTGTGGGCTGGGGGTGCGGGAGGCCTTTGGCCGGCAGCAGAAC AAGCCCATGGAGTCTCTGGACTTGAAGGACAAGACCAAGGTATGGGCTGG GGGTGCGGGAGGCCTTTGGCCGGCAGCAGAACAAGCCCATGGAGTCCCTG GACTTGAAGGACAAGACCAAGGTGTGGGCTGGGGGTGCGGGAGGCCTTTG GCCGGCAGCAGAACAAGCCCATGGAGTCCCTGGACTTGAAGGACAAGACC AAGGTGTGGGCTGGGGGTGCGGGAGGCCTTTGGCCGGCAGCAGAACAAGC CCATGGAGTCCCTGGACTTGAAGGACAAGACCAAGGTACGGGCTGGGGGT GCGGGAGGCCTTTGGCCGGCAGCAGAACAAGCCCATGGAGTCTCTGGACT TGAAGGACAAGACCAAGGTGTGGGCTGGGGGTGCGGGAGGTCTTTGGCCG GCAGCAGAACAAGCCCATGGAGTCTCTGGACTTGAAGGACAAGACCAAGG TGTGGGCTGGGGGTGCGGGAGGTCTTTGGCCGGCAGCAGAACAAGCCCAT GGAGTCTCTGGACTTGAAGGACAAGACCAAGGTGTGGGCTGGGGGTGCGG GAGGTCTTTGGCCGGCAGCAGAACAAGCCCATGGAGTCT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0077 a0002c0002t0002g0077	1	416	0.0024	738	c.522 others(753): Show c.522+341_522+342insGTGCTGGAGGCCTTTGGCCGGCGGCAGAAC AAGCCCATGGAGTCTCTGGACTTGAAGGACAAGACCAAGGTGTGGGCTGG GGGTGCGGGAGGCCTTTGGCCGGCAGCAGAACAAGCCCATGGAGTCTCTG GACTTGAAGGACAAGACCAAGGTATGGGCTGGGGGTGCGGGAGGCCTTTG GCCGGCAGCAGAACAAGCCCATGGAGTCCCTGGACTTGAAGGACAAGACC AAGGTGTGGGCTGGGGGTGCGGGAGGCCTTTGGCCGGCAGCAGAACAAGC CCATGGAGTCCCTGGACTTGAAGGACAAGACCAAGGTGTGGGCTGGGGGT GCGGGAGGCCTTTGGCCGGCAGCAGAACAAGCCCATGGAGTCCCTGGACT TGAAGGACAAGACCAAGGTACGGGCTGGGGGTGCGGGAGGCCTTTGGCCG GCAGCAGAACAAGCCCATGGAGTCTCTGGACTTGAAGGACAAGACCAAGG TGTGGGCTGGGGGTGCGGGAGGTCTTTGGCCGGCAGCAGAACAAGCCCAT GGAGTCTCTGGACTTGAAGGACAAGACCAAGGTGTGGGCTGGGGGTGCGG GAGGTCTTTGGCCGGCAGCAGAACAAGCCCATGGAGTCTCTGGACTTGAA GGACAAGACCAAGGTGTGGGCTGGGGGTGCGGGAGGTCTTTGGCCGGCAG CAGAACAAGCCCATGGAGTCTCTGGACTTGAAGGACAAGACCAAGGTGTG GGCTGGGG	FAM118A	ENSG00000100376.12	transcript	ENST00000441876.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
HNF4A_chr20_44350699_44437845	44404778	T T	TGTTTGTT others(731): Show TGTTTGTTGATGTGTGTGTATGTGTGCGTGTGTGTGAATTGTGTGTGTGT ATGTGTGGACTGTGCGTGTGTTCATGTTCGGACTGTGTGTGTGTATGTAA GTGTGTGTGCGTGTGTGTGACTGTGTGTCTTTGTGTGCCTGTGTGGACTG CTGTGTGTGCGTGGACTGTGTGGTGTGGGTGTGTGCGTGTGTGTGGACTG TGTGGTGTGGGTGTGTGCGTGTGTGTGGACTGTGTGGTGTGGGTGTGTGC GTGTGTGTGTGACCGTGTGGAGTGTGTCTGTGTGCATGTGTGGGCTGTGT GGTGCATGTGTGCTTATGTTTGGCGTGTGTGTGTGCGTGTGTGTGGACTC TGTGGTGTGTGCATGTGTGCATGTATGTGCGTGTGTGTGACTGTGTGGTG TGTGTCTGTGTGCACGTGTGGGCTTATATTTGGTGTGTGTGCATGTGTGG ACCGTGTGGTGTGTGTGTGTGCGTGTGTGGACTGTAGTGTGTGTGCACGT GTGTGTGTGCTTGTGTGTGGACTGTGTGTGTGTGGACTGTAGTGTGTGTG CGTGACTGTGGTGTGTGTGCATGACTGTGTGGTGTGTGTGTGCATGTGTG GATTGTGTGGTGTGTGTGGACTGTGGGTGTGTGGTGTGTGTGTGTGCTTG TGTGTGGTGTGTGTGCCTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTT GTGTGTGGACTGTGGATTGTGTGGTGTGTGTGTGCGCAC	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA19056.hp2 NA18995.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0042 a0001c0001t0003 a0001c0001t0042	a0001c0001t0003g0059 a0001c0001t0042g0084 a0001c0001t0003g0059 a0001c0001t0042g0084	2	322	0.0062	738	c.50- others(753): Show c.50-1278_50-1277insTTGTTGATGTGTGTGTATGTGTGCGTGTGT GTGAATTGTGTGTGTGTATGTGTGGACTGTGCGTGTGTTCATGTTCGGAC TGTGTGTGTGTATGTAAGTGTGTGTGCGTGTGTGTGACTGTGTGTCTTTG TGTGCCTGTGTGGACTGCTGTGTGTGCGTGGACTGTGTGGTGTGGGTGTG TGCGTGTGTGTGGACTGTGTGGTGTGGGTGTGTGCGTGTGTGTGGACTGT GTGGTGTGGGTGTGTGCGTGTGTGTGTGACCGTGTGGAGTGTGTCTGTGT GCATGTGTGGGCTGTGTGGTGCATGTGTGCTTATGTTTGGCGTGTGTGTG TGCGTGTGTGTGGACTCTGTGGTGTGTGCATGTGTGCATGTATGTGCGTG TGTGTGACTGTGTGGTGTGTGTCTGTGTGCACGTGTGGGCTTATATTTGG TGTGTGTGCATGTGTGGACCGTGTGGTGTGTGTGTGTGCGTGTGTGGACT GTAGTGTGTGTGCACGTGTGTGTGTGCTTGTGTGTGGACTGTGTGTGTGT GGACTGTAGTGTGTGTGCGTGACTGTGGTGTGTGTGCATGACTGTGTGGT GTGTGTGTGCATGTGTGGATTGTGTGGTGTGTGTGGACTGTGGGTGTGTG GTGTGTGTGTGTGCTTGTGTGTGGTGTGTGTGCCTGTGTGTGGACTGTGT GGTGCGTGTGTGTGCTTGTGTGTGGACTGTGGATTGTGTGGTGTGTGTGT GCGCACGT	HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
HPCAL1_chr2_10297904_10432604	10399223	C C	CCACCACC others(731): Show CCACCACCGCCGCTGCCGCTACCACCATCACCACCACCACCACCACCATC ACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCATCACCACCATCACCACCA CCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCACC ACCACCACCACCGCCGCCGCCGCCGCCACCGCCACCGCCACCGCCACCGC CACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCG CCGCCGCCACCGCCACCGCCACCGCCACCGCCACCACCATCACCATCACC ACCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCAC CACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCATCACCACCATCACCACCACCACCACCATCAC CACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCA CCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCAC CACCACCACCATCACCACCATCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0032 a0001c0001t0004g0032	1	314	0.0032	738	c.-25 others(755): Show c.-25+2310_-25+2311insGCCGCTGCCGCTACCACCATCACCACCA CCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACC ACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCATCAC CACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCACCGCCGCCGCCGCCGCCACCGCCACC GCCACCGCCACCGCCACCACCATCACCACCACCACCACCACCACCACCAC CACCACCACCACCGCCGCCGCCACCGCCACCGCCACCGCCACCGCCACCA CCATCACCATCACCACCACCACCACCACCACCACCACCACCACCACCATC ACCACCACCACCACCACCACCACCACCACCACCACCACCACCACCATCAC CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCACCACCACCACCATCACCACCACCACCACCATCACCACCATCACCACC ACCACCACCATCACCACCACCACCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCATCA CCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACC ACCACCATCACCACCACCACCACCATCACCACCATCACCACCACCACCAC CATCACCACC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10399265	C C	CCATCATC others(731): Show CCATCATCACCGCCACCACCACCACCACCACCGCCGCCGCCGCCGCCACC GCCGCCACCACCACCACCATCACCATCATCACCGCCGCCACCACCACCAC CATCACCATCACCACCACCACCACCACCACCATCACCATCATCACCACCA CCATCACCATCACCACCACCACCACCACCACCACCACCATCACCACCACC ATCACCATCACCACCACCACCACCACCACCATCACCATCATCACCACCAC CACCACCACCACCACCATCACCATCATCACCGCCACCACCACCACCACCA TCACCATCATCACCACCACCACCACCACCACCATCACCATCATCACCACC ACCACCACCACCACCATCACCATCATCACCGCCACCACCACCACCACCAT CACCATCATCACCACCACCACCACCACCACCATCACCACCACCATCACCA TCACCACCACCACCACCACCACCATCACCATCATCACCACCACCACCACC ACCACCACCATCACCATCATCACCGCCACCACCACCACCACCATCACCAT CATCACCACCACCACCACCACCACCATCACCATCATCACCACCACCACCA CCACCACCATCACCATCATCACCACCACCACCACCACCACCATCACCATC ATCACCGCCACCACCACCACCACCATCACCATCATCACCGCCACCACCAC CACCATCACCATCATCACCGCCGCCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	314	0.0032	738	c.-25 others(755): Show c.-25+2347_-25+2348insTCATCACCGCCACCACCACCACCACCAC CGCCGCCGCCGCCGCCACCGCCGCCACCACCACCACCATCACCATCATCA CCGCCGCCACCACCACCACCATCACCATCACCACCACCACCACCACCACC ATCACCATCATCACCACCACCATCACCATCACCACCACCACCACCACCAC CACCACCATCACCACCACCATCACCATCACCACCACCACCACCACCACCA TCACCATCATCACCACCACCACCACCACCACCACCATCACCATCATCACC GCCACCACCACCACCACCATCACCATCATCACCACCACCACCACCACCAC CATCACCATCATCACCACCACCACCACCACCACCATCACCATCATCACCG CCACCACCACCACCACCATCACCATCATCACCACCACCACCACCACCACC ATCACCACCACCATCACCATCACCACCACCACCACCACCACCATCACCAT CATCACCACCACCACCACCACCACCACCATCACCATCATCACCGCCACCA CCACCACCACCATCACCATCATCACCACCACCACCACCACCACCATCACC ATCATCACCACCACCACCACCACCACCATCACCATCATCACCACCACCAC CACCACCACCATCACCATCATCACCGCCACCACCACCACCACCATCACCA TCATCACCGCCACCACCACCACCATCACCATCATCACCGCCGCCACCACC ACCACCATCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(731): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGTATATATGGAACATATATACATATATGTATATAT GGAACATATATACATATATGGAACCAATACATACATGGAACATATATATG TGGAACCAATACATACATGGAACATATATATGTGGAACCAATACATATAC GGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGA ACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAA CATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCA ATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATA TATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATAC ATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATA TGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATAT ACGGAACATATATATCTGGAACCAATACATATACGGAACATATATATCTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGG AACATATATATGTGGAACCAATACATATACGGAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0235 a0002c0002t0002g0235	1	323	0.0031	738	c.-36 others(749): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGTATATATGGAACATATATACATATATGTATATATGGAACATATATA CATATATGTATATATGGAACATATATACATATATGGAACCAATACATACA TGGAACATATATATGTGGAACCAATACATACATGGAACATATATATGTGG AACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATA CATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATAT ATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATA TACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGT GGAACCAATACATATACGGAACATATATATCTGGAACCAATACATATACG GAACATATATATCTGGAACCAATACATATACGGAACATATATATGTGGAA CCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAAC ATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
IL33_chr9_6210807_6262983	6259673	T T	TGTCCTCT others(731): Show TGTCCTCTTTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TAAATTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTG CACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGC TGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATC CCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCC TTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAA TATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGG TTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTT ATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCA GTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGA ATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGAT TTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGG TATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATG GTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCT CCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02886.hp2 NA18906.hp1 HG02818.hp2 HG02886.hp2 NA18906.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0050 a0002c0003t0006g0332 a0002c0003t0006g0333 a0002c0003t0006g0050 a0002c0003t0006g0332 a0002c0003t0006g0333	3	362	0.0083	738	c.35 others(749): Show c.3505_*3506insGTCCTCTTTTATTTCTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTAAATTTTTTTTTTTTTTTTTATTATACTCTAAGT TTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGT GCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATA TCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAG AGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCC ACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTT TACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATG AACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCA CATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAG TCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCT TTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGAT GGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACA CTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAA AGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTT TTTA	IL33	ENSG00000137033.12	transcript	ENST00000682010.1	protein_coding		1691		chr9	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(731): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGA GGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGA GGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGG GCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCA GGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGG AGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAG AGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATG GGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGAAACGGGC AGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGG AGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCA GGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGA CGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAG GGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	204	0.0049	738	c.978 others(755): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGG CAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAG GAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAG AGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGA GGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAG GGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGA GGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGA GGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGG GCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCA GGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGA CGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAG GAGAGAGGGGCAGGGAGGACGGGCAGGGAGGACGGGCAGGGAGGAGGGGC AGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGG AGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGG GGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(731): Show GGAAGGGAGGTGGAGGGAGAAAAGAGGAGGAGGAGGAAGGAAAGAAGGAG AAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGAG AAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAGA AAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAGG GACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTGA AGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGGA GGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGGA GGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGGG GAGAGGAGAGAAGAGGGAGAGGAGGAGAGAGGAGGAGGGGGAGGAGGAGA GAGGAGGAGGGGAGGAGGAGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAG GAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGG AGGAGGAGAGGAAGGAGGAGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGG GGGAGGAGGAGAGGAAAGAGTCCGGGAGGAGGAGGGAGAAAGGAGGAGGG GAGGAGGAGGGAGAAAGGAAGAGGGGAGGAGGGAGGGAGAAAGGAAGAGG GGGAGGAGGAGGGAGAAAGGAAGAGGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0140 a0001c0001t0070g0140	1	386	0.0026	738	c.-46 others(749): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCTCCTC CTCCCCCTCTTCCTTTCTCCCTCCCTCCTCCCCTCTTCCTTTCTCCCTCC TCCTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCCTC CTCCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTCTC CTCCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCCTC CCCTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCTCC TCCTCTCTCCTCCTCCCCCTCCTCCTCTCTCCTCCTCTCCCTCTTCTCTC CTCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTT CTCCCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCTTCCTTTCTCCCT CCTCCTCCTTCCCTCCTCCTTTCTCTTCTTTTCTCCCACTTCTCCCTCCT CCCCTTCACTTCCTCCTCCTCCCCTTTCTCCCTCCTCCTCTTCTCCTCTT TTGTCCCTCCTCTCCCTCCTCCCTTTCACCTTTTCCTCCTCCTCCCCTCC TCCTTTCTCCCTCCCCCTCCCCTCATCTTTTCTCCCTCCTCCTCCTCTCC TCTTTCTCCTCCTCTATTCTCCCTCCTCTCCCTTCTCCCCCTTCACTTCT TCCTTCTCCTTCTTTCCTTCCTCCTCCTCCTCTTTTCTCCCTCCACCTCC CTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KIF1A_chr2_240708767_240825219	240786833	G G	GGCCACCA others(731): Show GGCCACCATCAGGACCCCTGAGTGAGGGGTGGGGGCTGCCATCAGGACCC CTGAGTGAGAGGGTGGGGGCCACCATCAGGAACCCTGAGTGAGAGGGTGG GGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGC CCCTGAGTGAGAGGGTAGGGGCCACCATCAGGAACCCTGAGTGAGAGGGT AGGGGCTGCCATCAGGACCCCTGAGAGAGAGGGTAGGGGCCACCATCAGG ACCCCTGAGTGAGAGGGTAGGGGCCACCACCAGGACCCCTGAGGGGATGG GAGCCAGCATCAGGACCCCTGAGTGAGAGGGTGGGGGCCACCATCAGGAC CCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGT AGGGGCCACCATCAGGAACCCTGAGTGAGAGGGTAGGGGCTGCCATCAGG ACCCCTGAGAGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGAGG GTAGGGGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGAC CCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGGGGTG GGGGCCGCCATCAGGACCCCTGAGTGAGAGGGTGGGGGCCAGTATCAGGA CCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGACCCCTGAGTGAGGGGG TGGGGGCTGCCATCAGGACCCCTGAGTGAGGGGGTGGGT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0172 a0002c0002t0008g0172	1	330	0.0030	738	c.430 others(753): Show c.430-321_430-320insACCCACCCCCTCACTCAGGGGTCCTGATGG CAGCCCCCACCCCCTCACTCAGGGGTCCAGCAGGCAGCCCCCACCCCCTC ACTCAGGGGTCCTGATACTGGCCCCCACCCTCTCACTCAGGGGTCCTGAT GGCGGCCCCCACCCCTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCCCT CACTCAGGGGTCCTGATGCTGGCTCCCATCCCCTCAGGGGTCCTGGTGGT GGCCCCTACCCTCTCACTCAGGGGTCCTGATGGTGGCCCCTACCCTCTCT CTCAGGGGTCCTGATGGCAGCCCCTACCCTCTCACTCAGGGTTCCTGATG GTGGCCCCTACCCTCTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCCCT CACTCAGGGGTCCTGATGGTGGCCCCCACCCTCTCACTCAGGGGTCCTGA TGCTGGCTCCCATCCCCTCAGGGGTCCTGGTGGTGGCCCCTACCCTCTCA CTCAGGGGTCCTGATGGTGGCCCCTACCCTCTCTCTCAGGGGTCCTGATG GCAGCCCCTACCCTCTCACTCAGGGTTCCTGATGGTGGCCCCTACCCTCT CACTCAGGGGCCCAGCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCTGA TGGTGGCCCCCACCCTCTCACTCAGGGTTCCTGATGGTGGCCCCCACCCT CTCACTCAGGGGTCCTGATGGCAGCCCCCACCCCTCACTCAGGGGTCCTG ATGGTGGC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
LORICRIN_chr1_153254687_153267124	153256755	A A	ATAAAACT others(731): Show ATAAAACTATAGTCACATATGTATATAAAACTATATATAGTCACATATGT ATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCAC ATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATAT AGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACT ATATATAGTTATATGTATATAAAACTATAGTCATATATGTATATAAAACT ATATATAGTCATATATGTATATAAAACTATATACAGTCATATATGTATAT AAAACTATATACAGTCATATATGTATATAAAATTATATACAGTCATATAT GTATATAAAACTATATACAGTCATGTATGTATATAAAACTATACAGTCAT ATATGTATATAAAACTATACAGTCATATATGTATATAAAACTATATATAG TCATATATGTATATAAAACTATATATAGTCATATATGTATATAAAACTAT ATAGTTATATATGTATATAAAACTATATAGTTATATATGTATATAAAACT ATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTAT AGTTATATATGTATGTAAAACTATAGTTATATATGTAAAACTATAGTTAT ATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATATACAGTT ATGTATGTATGTAAAACTATATACAGTTATGTATGTATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	738	c.-30 others(749): Show c.-3002_-3001insTAAAACTATAGTCACATATGTATATAAAACTATA TATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAA ACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTA TATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACA TATGTATATAAAACTATATATAGTTATATGTATATAAAACTATAGTCATA TATGTATATAAAACTATATATAGTCATATATGTATATAAAACTATATACA GTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAATTA TATACAGTCATATATGTATATAAAACTATATACAGTCATGTATGTATATA AAACTATACAGTCATATATGTATATAAAACTATACAGTCATATATGTATA TAAAACTATATATAGTCATATATGTATATAAAACTATATATAGTCATATA TGTATATAAAACTATATAGTTATATATGTATATAAAACTATATAGTTATA TATGTATATAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATA TGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATG TAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTA AAACTATATACAGTTATGTATGTATGTAAAACTATATACAGTTATGTATG TATG	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2931		chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(731): Show CCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGG CCACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACCCG GGCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACA TACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACTACATA CCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTAC TACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTT ACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGC TTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCG GGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0059 a0001c0004t0059	a0001c0004t0059g0184 a0001c0004t0059g0184	1	296	0.0034	738	c.368 others(755): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTA AGCGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAG TGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTA AGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAG TAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTA AGTAAGTAAGTGGCCCGGGTATGTAGTAAGTACGTGGCCCGGGTATGTAG TAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583324	A A	ACAGCCAC others(731): Show ACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCCGCAGCCACCA GACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCC ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCAC CAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAG CCACCAGACAACCCACAGCCACCAGACAACCCACAGCCACCAGACAACGC GCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCA GACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCC ACCAGACAACCCGCAGCCACCAGACAACCCACAGCCACCAGACAACCCAC AGCCACCAGACAACGCACAGCCACCAGACAACGCACAGCCACCAGACAAC GCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	292	0.0034	738	c.377 others(755): Show c.377-3396_377-3395insCGCGTTGTCTGGTGGCTGTGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGCGTT GTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCG GGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGTGGG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTG GCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGGGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGT CTGGTGGCTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583450	G G	GCAGCCAC others(731): Show GCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCC ACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGC AGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGA CAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAG CCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGC GCAGCCACCAGACAACCCGCAGCCACCAGACAACCCGCAGCCACCAGACA ACCCACAGCCACCAGACAACCCACAGCCACCAGACAACGCACAGCCACCA GACAACGCACAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCC ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01978.hp2 HG00733.hp1 HG01978.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0002 a0001c0001t0001 a0004c0004t0002	a0001c0001t0001g0040 a0004c0004t0002g0123 a0001c0001t0001g0040 a0004c0004t0002g0123	2	292	0.0069	738	c.377 others(755): Show c.377-3522_377-3521insTGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGTGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGTGGGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGGGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTG GCTGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCG CGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGT CTGGTGGCTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583558	G G	GCAGCCAC others(731): Show GCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCA GACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCC ACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCGC AGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAAC GCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAG CCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGC GCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCC ACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAACGCGC AGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCGCAGCCACCAGACAACCCGCAGCCACCAGACAACCCA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0046 a0002c0046	a0002c0046t0001 a0002c0046t0001	a0002c0046t0001g0095 a0002c0046t0001g0095	1	292	0.0034	738	c.377 others(755): Show c.377-3630_377-3629insTGGGTTGTCTGGTGGCTGCGGGTTGTCT GGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTG GCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGGGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTT GTCTGGTGGCTGCGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGC TGTGGGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGT CTGGTGGCTG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar

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Search Results (Total: 8931 hits)