Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ZNF516_chr18_76352682_76500242	76401788	C C	CCCCCGCG others(539): Show CCCCCGCGCCGCACCTCTCCACCACCAACCACACTCCCGCGCCGCACCCC TCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAC CCCCGCGCCGCACCCCTCCACCACCCACACCCCCGCGCCACACCCCTCCA CCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCC GCGCTCCATCTCTCCACCAACCACACCCCCGCGCCGCACCTCTCCACCAC CAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGC CGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACC CACACCCCCGCGCCGCACCCCTCCACCACCAACCACAGCCCCGCGCCGCA CCCCTCCACCACCAACCACACCCCCGCGCTCCATCTCTCCACCAACCACA CCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCC TCCACCACCCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAG	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0006 a0006	a0006c0039 a0006c0039	a0006c0039t0001 a0006c0039t0001	a0006c0039t0001g0178 a0006c0039t0001g0178	1	346	0.0029	546	c.181 others(567): Show c.1811-21486_1811-21485insCTGTGGTTGGTGGTGGAGGGGTGC GGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGT GGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGAGAGATGGAGCGCGG GGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGCTGTGGTTGGTGGTG GAGGGGTGCGGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGCT GTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGG GGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGAGGTGCGGCGCGGGGGTG TGGTTGGTGGAGAGATGGAGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTG CGGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGTGGCGCGGGGGTGTGGG TGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGC GCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGAGTGTGGTTGGT GGTGGAGAGGTGCGGCGCGGGG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ACTRT2_chr1_3016467_3027903	3016683	G G	GGGAGGGA others(540): Show GGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGGGAAGGAGGGAGGGAGGAG AGAGGAAGGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAG GGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGAGAGAGGAAAGGAAGAAG GGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGGAG GAAGGGAAGGAGAGAAGGAGAAAGAAGTGAGGAAAGAAGGAGGGAGGGGA GAGAAAATGGAGGAAGGAGGATGGGAACAGGGGAGGGAGAGAAGGAGGAA GGAAGGAGGGAAGGAGATACGTAGGAAGGAAGGAGGGAAAAAGGAAGAGA GAAAGGGAAGGAAGGAGGGAGGAAGGGAGGAAGGAAGGAGAGAGGGAGGG CAGGAGGAGGGGAGGGAGGGAGGAAGGGAAGAAGGGAGGGGAGAGGAAGA GCAGGAGGAAGGTAAGGAGGGAGGAGGGATGGAGAAGGGAGGGAGGGAGG AAGCGAGGAGGAGAGGGAGGGAGGATGGTGGGAGGGAGGGAGGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01069.hp2 HG03239.hp2 HG00735.hp2 HG01069.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	366	0.0082	547	c.-50 others(558): Show c.-5004_-5003insGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGGGAA GGAGGGAGGGAGGAGAGAGGAAGGGAAGGAGGGAGGGAGGGAGGAGGGAG GGAGGAGGGAGGAAGGGAAGGAGGGAGGGAGGGAGGAGGGAGGGAGGAGA GAGGAAAGGAAGAAGGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGG GAGGGAGGGAGGGAGGAAGGGAAGGAGAGAAGGAGAAAGAAGTGAGGAAA GAAGGAGGGAGGGGAGAGAAAATGGAGGAAGGAGGATGGGAACAGGGGAG GGAGAGAAGGAGGAAGGAAGGAGGGAAGGAGATACGTAGGAAGGAAGGAG GGAAAAAGGAAGAGAGAAAGGGAAGGAAGGAGGGAGGAAGGGAGGAAGGA AGGAGAGAGGGAGGGCAGGAGGAGGGGAGGGAGGGAGGAAGGGAAGAAGG GAGGGGAGAGGAAGAGCAGGAGGAAGGTAAGGAGGGAGGAGGGATGGAGA AGGGAGGGAGGGAGGAAGCGAGGAGGAGAGGGAGGGAGGATGGTGGGAGG GAGGGAGGGGGGA	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding		4783		chr1	TogoVar
ADGRA1_chr10_133082924_133136675	133111675	C C	CACCACAG others(540): Show CACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCCGCCGTGA GCACCTCCCTCCTAATGCCTCCAGACCACCTGCCCACCACAGGCACCTCC CTCCTAATGCCTCCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAAT CCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATGCCTCCAG ACCACCTGCCCGCCACAGACACCTCCCTCCTAATCCCTCCAGACAACCTG CCCGCCACAGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCAC GGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCGCCACAGGCACCT CCCTCCTAATCCCACCAGACCACCTGCCCGCCACAGGCACCTCCCTCCTA ATCCCACCAGACCACCTGCCCCCCCGGGAACCATCCCTCCTAATCCCACC AGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACAACC TGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0032 a0001c0001t0027g0032	1	368	0.0027	547	c.401 others(564): Show c.401+8833_401+8834insACCACAGACACCTCCCTCCTAATCCCTC CAGACCACCTGCCCGCCGTGAGCACCTCCCTCCTAATGCCTCCAGACCAC CTGCCCACCACAGGCACCTCCCTCCTAATGCCTCCAGACCACCTGCCCAC CACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCA CCTCCCTCCTAATGCCTCCAGACCACCTGCCCGCCACAGACACCTCCCTC CTAATCCCTCCAGACAACCTGCCCGCCACAGGCACCTCCCTCCTAATCCC ACCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACA ACCTGCCCGCCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCC GCCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCCCCCGGGA ACCATCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCC TCCTAATCCCTCCAGACAACCTGCCCACCACAGGCACCTCCCTCCTAATC CCACCAGACCACCTGCCCA	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
ASAP2_chr2_9201812_9410678	9400249	T T	TCCCCTCC others(540): Show TCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGC CCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTC CTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCC CCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCC CCTTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTCC TGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCC CTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCTCCTGCCCC CCTCCCCTCCTGTACCCCTCCCCCCTCCCCTCCTGTACCCCTCCCCCCTC CTGCCCCCTCCCCTCCTGCCCCCTGCCCCCCTCCCCTCCTGCCCCCTCCC TTCCTACCCCCTCCCCTCCTGCCCCCTCCCCTCCTCCCCTCATGCCCTCC TGCCCCCTCCCCTCCTGCCCCCCCTCCCCTCCTCCCCTCCTGCCCCCC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0201 a0001c0004t0005g0201	1	210	0.0048	547	c.273 others(564): Show c.2734+177_2734+178insCCCCTCCTGCCCCCTTCCCCTCCTGCCC TCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCT GCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCC CCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCC TGCCCCCCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCCTC CCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCT CCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCT CCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCC CTCCTGTACCCCTCCCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTGCCCC CCTCCCCTCCTGCCCCCTCCCTTCCTACCCCCTCCCCTCCTGCCCCCTCC CCTCCTCCCCTCATGCCCTCCTGCCCCCTCCCCTCCTGCCCCCCCTCCCC TCCTCCCCTCCTGCCCCCC	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	25/27			chr2	TogoVar
CABP5_chr19_48024383_48049079	48043533	C C	CCACCACC others(540): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCTCACC ATCACCACCACCATCATCATCACCATCACCACCATCACCACCATCTCACC ATCACCATCACCACCACCATCACCACCACCATCACCACCACCATCACCAT CACCATCACCACCACCACCATCACCACCAGCACCACCAGCACCACCACCA TCAACATCATCATCATCACCACCATCACCACCATCATCACCACCACCGTC ATCACCACCAGCACCACCATCACCACCACCATCACCACCATCTCACCATC ATCACCATCACCATCACCATCACCACCATCTCACCATCACCATCACCACC ATCATCACCACCACCATCACCACCACCATCACCATCACCATCACCACCAT CATCATCACCACCATCACCACCACCACCACCACCATCATCACCATCACCA CCATCACCACCACCATCATCATCACCACCACCACCATCACCACCATCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02895.hp2 HG03486.hp1 HG02886.hp2 HG02895.hp2 HG03486.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0022 a0005c0008t0009 a0005c0008t0010 a0001c0001t0022 a0005c0008t0009 a0005c0008t0010	a0001c0001t0022g0291 a0005c0008t0009g0290 a0005c0008t0010g0289 a0001c0001t0022g0291 a0005c0008t0009g0290 a0005c0008t0010g0289	3	376	0.0080	547	c.63+ others(560): Show c.63+326_63+327insAGATGGTGGTGATGGTGGTGGTGGTGATGATG ATGGTGGTGGTGATGGTGGTGATGGTGATGATGGTGGTGGTGGTGGTGGT GATGGTGGTGATGATGATGGTGGTGATGGTGATGGTGATGGTGGTGGTGA TGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGAGATGGTGGTGATGG TGATGGTGATGGTGATGATGGTGAGATGGTGGTGATGGTGGTGGTGATGG TGGTGCTGGTGGTGATGACGGTGGTGGTGATGATGGTGGTGATGGTGGTG ATGATGATGATGTTGATGGTGGTGGTGCTGGTGGTGCTGGTGGTGATGGT GGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGATGG TGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTGGTGATGGTGATGA TGATGGTGGTGGTGATGGTGAGATGGTGGTGATGGTGGTGGTGGTGGTTA TGGTGGTGGTGGTGGTGATGATGGTGATGATGATGGTGTTGATGATGGTG ATGATGATGGTGGTG	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	1/5			chr19	TogoVar
CACNA1B_chr9_137872782_138129619	138127006	C C	CCCCCGGC others(540): Show CCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGG GCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCG TGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGG CCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAG GGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCG GCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTG CAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCA AGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGA CACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCG CAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCGGCCGCCA GCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0012 a0002c0010t0012	a0002c0010t0012g0233 a0002c0010t0012g0233	1	248	0.0040	547	c.50 others(558): Show c.5007_*5008insCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGAC ACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGC AAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCA GCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCC CCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGC CCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTG AGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCC ATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGG GGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGC CGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCA GTGCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGA GGGCCCTGCAGTG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		2388		chr9	TogoVar
CACNA1B_chr9_137872782_138129619	138127006	C C	CCCCCGGC others(540): Show CCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGACACCGTGAGCAAGAGG GCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGACACCG TGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCGAGG CCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAG GGGGCGCGAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCG GCCGCCAGCAGGGGGCGCGAGGCCATGACACCGTGAGCAAGAGGGCCCTG CAGTGCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGACACCGTGAGCA AGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGA CACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCG CGAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCGGCCGCCA GCAGGGGGCGCGAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0006 a0001c0003t0005g0006	1	248	0.0040	547	c.50 others(558): Show c.5007_*5008insCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGAC ACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGC GAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCA GCAGGGGGCGCGAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCC CCCGGCCGCCAGCAGGGGGCGCGAGGCCATGACACCGTGAGCAAGAGGGC CCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGACACCGTG AGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCGAGGCC ATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGG GGCGCGAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGC CGCCAGCAGGGGGCGCGAGGCCATGACACCGTGAGCAAGAGGGCCCTGCA GTGCCCCGGCCGCCAGCAGGGGGCGCGAGGCCATGACACCGTGAGCAAGA GGGCCCTGCAGTG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		2388		chr9	TogoVar
CASP8_chr2_201255536_201292709	201283070	C C	CGGGGCGG others(540): Show CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGGCG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGGGG CTGACCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGTT GAACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCAGGCAGGGGGCTGATCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0266 a0001c0001t0004g0266	1	386	0.0026	547	c.803 others(564): Show c.803-1702_803-1701insCGGATGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCT GGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCGG ACTGGGCGGCTGGCCGGGCGGGGGGTTGAACCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGG GCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGG CTGACCCCCCCTCCCCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCC	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC198_chr14_57464300_57498857	57498800	G G	GTGTGTAT others(540): Show GTGTGTATATGGTATATATATATAATATGGTATATATATGTGTGTGTGTG TGTATATGGTATATATATATAATATGGTATATATATGTGTGTGTGTGTGT ATATATGGTATATATATATAATATGGTATATATATGTGTGTGTGTGTGTA TATGGTATATATATAATATGGTATATATATGTGTGTGTGTATATGGTATA TATATATAATATGGTATATATATGTGTGTGTATATGGTATATATATATAA TATGGTATATATATGTGTGTGTGTATATATGGTATATATATATAATATGG TATATATATGTGTGTGTGTGTGTATATATGGTATATATATATAATATGGT ATATATAGTGTGTGTGTGTGTGTATATATGGTATATATATATAATATGGT ATATATATGTGTGTGTGTGTGTATATATGGTATATATATATAATGTGGTA TATATATGTGTGTGTGTATATATGGTATATATATAATATGGTATATATAT GTGTGTGTGTGTGTATATATGGTATATATATATAATATGGTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	362	0.0028	547	c.-50 others(558): Show c.-5086_-5085insTATATATACCATATTATATATATATACCATATAT ACACACACACACACATATATATACCATATTATATATATACCATATATACA CACACACATATATATACCACATTATATATATATACCATATATACACACAC ACACACATATATATACCATATTATATATATATACCATATATACACACACA CACACACTATATATACCATATTATATATATATACCATATATACACACACA CACACATATATATACCATATTATATATATATACCATATATACACACACAC ATATATATACCATATTATATATATATACCATATACACACACATATATATA CCATATTATATATATATACCATATACACACACACATATATATACCATATT ATATATATACCATATACACACACACACACATATATATACCATATTATATA TATATACCATATATACACACACACACACATATATATACCATATTATATAT ATATACCATATACACACACACACACATATATATACCATATTATATATATA TACCATATACACA	CCDC198	ENSG00000100557.10	transcript	ENST00000216445.8	protein_coding		4944		chr14	TogoVar
CCDC198_chr14_57464300_57498857	57498800	G G	GTGTGTGT others(540): Show GTGTGTGTATATGGTATATATATATAATATGGTATATATATGTGTGTGTG TGTGTATATGGTATATATATATAATATGGTATATATATGTGTGTGTGTGT GTATATATGGTATATATATATAATATGGTATATATATGTGTGTGTGTGTG TATATGGTATATATATAATATGGTATATATATGTGTGTGTGTATATGGTA TATATATATAATATGGTATATATATGTGTGTGTATATGGTATATATATAT AATATGGTATATATATGTGTGTGTGTATATATGGTATATATATATAATAT GGTATATATATGTGTGTGTGTGTGTATATATGGTATATATATATAATATG GTATATATAGTGTGTGTGTGTGTATATATGGTATATATATATAATATGGT ATATATATGTGTGTGTGTGTGTATATATGGTATATATATATAATGTGGTA TATATATGTGTGTGTGTATATATGGTATATATATAATATGGTATATATAT GTGTGTGTGTGTGTATATATGGTATATATATATAATATGGTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG02135.hp2 NA18942.hp2 others(7): Show HG00558.hp2 HG02135.hp2 NA18942.hp2 NA18980.hp2 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19084.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0041 a0001c0001t0001g0133 others(4): Show a0001c0001t0001g0015 a0001c0001t0001g0041 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0170 a0001c0001t0001g0181	10	362	0.0276	547	c.-50 others(558): Show c.-5086_-5085ins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	CCDC198	ENSG00000100557.10	transcript	ENST00000216445.8	protein_coding		4944		chr14	TogoVar
CCDC198_chr14_57464300_57498857	57498800	G G	GTGTGTGT others(540): Show GTGTGTGTATATGGTATATATATATAATATGGTATATATGTGTGTGTGTG TGTGTATATGGTATATATATATAATATGGTATATATATGTGTGTGTGTGT GTATATATGGTATATATATATAATATGGTATATATATGTGTGTGTGTGTG TATATGGTATATATATAATATGGTATATATATGTGTGTGTGTATATGGTA TATATATATAATATGGTATATATATGTGTGTGTATATGGTATATATATAT AATATGGTATATATATGTGTGTGTGTATATATGGTATATATATATAATAT GGTATATATATGTGTGTGTGTGTGTATATATGGTATATATATATAATATG GTATATATAGTGTGTGTGTGTGTATATATGGTATATATATATAATATGGT ATATATATGTGTGTGTGTGTGTATATATGGTATATATATATAATGTGGTA TATATATGTGTGTGTGTATATATGGTATATATATAATATGGTATATATAT GTGTGTGTGTGTGTATATATGGTATATATATATAATATGGTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	362	0.0028	547	c.-50 others(558): Show c.-5086_-5085ins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	CCDC198	ENSG00000100557.10	transcript	ENST00000216445.8	protein_coding		4944		chr14	TogoVar
CDON_chr11_125951821_126067866	126065047	G G	GTGATGAT others(540): Show GTGATGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGA GGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGG TGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG ATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGAT AGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAG TATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTA TTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATT AAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAA GAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGA GGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGG TGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0028 a0002c0028	a0002c0028t0101 a0002c0028t0101	a0002c0028t0101g0311 a0002c0028t0101g0311	1	334	0.0030	547	c.-25 others(558): Show c.-2531_-2530insCCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAA TACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATA CTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACT ATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTAT CACCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTATCATCA	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2182		chr11	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(540): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCC CTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTT CTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCC CCTCCTCCCTTCCCCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCT TCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCC TTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCC TCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0007 a0002c0001t0002g0007	1	354	0.0028	547	c.69 others(558): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTT CCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCC GTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTC CCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCC CCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTC CCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTCCCTTCCCCCTTCCCCCC TCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCC CTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACC CCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTC CTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CHMP1A_chr16_89639435_89662708	89647782	C C	CGCGGGGG others(540): Show CGCGGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGGGG TCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGTTGGTGGA GAAAAGGCCGCCGACGTGGAGACCCAGCGCGGGGTCCGTGGAGAAAAGGC CGCCGACGTGGACACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACG TGGAGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACC CAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGAGACCCAGTGCGG GGTCCGTGGAGAAAAGGCCGCCGACGTGGACACCCAGCGCGGGGTCGGTG GAGAAAAGGCCGCCGACGTGGGGACCCAGTGCGGGGTTGGTGGAGAAAAG GCCGCCGACGTGGAGACCCAGCGCGGGGTCCGTGGAGAAAAGGCCGCCGA CGTGGACACCCAGCGCGGGGTCGGTGGAGAAAAGGCGGCCGACGTGGAGA CCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGGGACCCAGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	392	0.0026	547	c.253 others(562): Show c.253-452_253-451insACTGGGTCCCCACGTCGGCGGCCTTTTCTC CACCGACCCCGCACTGGGTCTCCACGTCGGCCGCCTTTTCTCCACCGACC CCGCGCTGGGTGTCCACGTCGGCGGCCTTTTCTCCACGGACCCCGCGCTG GGTCTCCACGTCGGCGGCCTTTTCTCCACCAACCCCGCACTGGGTCCCCA CGTCGGCGGCCTTTTCTCCACCGACCCCGCGCTGGGTGTCCACGTCGGCG GCCTTTTCTCCACGGACCCCGCACTGGGTCTCCACGTCGGCGGCCTTTTC TCCACCGACCCCGCACTGGGTCCCCACGTCGGCGGCCTTTTCTCCACCGA CCCCGCACTGGGTCTCCACGTCGGCCGCCTTTTCTCCACCGACCCCGCGC TGGGTGTCCACGTCGGCGGCCTTTTCTCCACGGACCCCGCGCTGGGTCTC CACGTCGGCGGCCTTTTCTCCACCAACCCCGCACTGGGTCCCCACGTCGG CGGCCTTTTCTCCACCGACCCCGCACTGGGTCTCCACGTCGGCGGCCTTT TCTCCACCGACCCCCGC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CUL4A_chr13_113204613_113272108	113232250	G G	GTCACCAC others(540): Show GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATT ACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCA CCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGT CACCACTACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACC ACCATTACTGTCACCACTACCTGCCCACCACCATTACTGCTGCCACCACT ACCCGCCCACCACTATTACTGCTGCTGCCACCACCAGTATTACTGTCACC GCCACCACCGCTATTACTACTGCCACCACCACCTGTCCACCACCATTA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	396	0.0025	547	c.513 others(562): Show c.513-927_513-926insTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGC CCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTAC TGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACC ACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACC TGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGCTG CCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCAC CATTACTGCTGCCACCACTACCCGCCCACCACTATTACTGCTGCTGCCAC CACCAGTATTACTGTCACCGCCACCACCGCTATTACTACTGCCACCACCA CCTGTCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCCC others(540): Show GCACCCCCACCCCCACCCCCACCCCGCACCCCCACCCCCACCCCCACCCG CACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCA CCCGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACC CCCACCCCCACCCCCACCCTCACCCCCACCCGCACCCCCACCCCCACCCC CACCCGCACCCGCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCA CCCCCACCCGCACCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACC CGCACCCGCACCCCCACCCGCACCCGCACCCCCACCCGCACCCCCACCCC CACCTCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCGCACCCCCA CCCCCACCCGCACCCCCACCCCCACCCTCACCCGCACCCCCACCCCCACC CGCACCCCCACCCCCACCCTCACCCCCACCCTCACCCGCACCCGCACCCC CACCCTCACCCCCACCCTCACCCCCACCCTCACCCGCACCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0026 a0026	a0026c0037 a0026c0037	a0026c0037t0006 a0026c0037t0006	a0026c0037t0006g0049 a0026c0037t0006g0049	1	320	0.0031	547	c.39 others(558): Show c.3972_*3973insGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGAGGG TGGGGGTGAGGGTGGGGGTGCGGGTGCGGGTGAGGGTGGGGGTGAGGGTG GGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGGG GGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGGG TGGGGGTGGAGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCG GGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGG TGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAGGGTG GGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGG GGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGG TGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGGTGGGGGT GGGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DIP2C_chr10_269201_694668	516740	G G	GTAAGGTG others(540): Show GTAAGGTGGACAGTGGGACAGGGGAAGGGGGTAAGGGGGGGACAGGGGGT AGGGTGGGAGGGGGGGACAGGGGGTAGGGTGGGAGGGGGGGACAGGGGGT AGGGTGGGAGGGGGGGACAGGGGGTAGGGTGGGGGGGGGGACAGGGGGTA GGGTGGGAGGGGGGGACAGGGGGTAGGGTGGGAGGGGGGGACAGGGGGTA GGGTGGGAGGGGGGGACAGGGGGTAGGGTGGGAGGGGGGGACAGGGGGTA GGGTGGGAGGGGGGGGACAGGGGGTAGGGTGGGAGGGGGGGACAGGGGGT AGGGTGGGAGGGGGGGACAGGGGGTAGGGTGGGAGGGGGGGACAGGGGGT AGGGTGGGAGGGGGGGACAGGGGGTAGGGTGGGAGGGGGGGACAGGGGGT AGGGTGGGAGGGGGGACGGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTG GGGGGGGACACGGGGTAGGGTGGGGGGGACACAGGGGGTAGGGTGGGGGG GGACACGGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGGAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	88	0.0114	547	c.86- others(564): Show c.86-30211_86-30210insGTCCCCCCCCACCCTACCCCCTGTCCCC CCCCACCCTACCCCGTGTCCCCCCCCACCCTACCCCCTGTGTCCCCCCCA CCCTACCCCGTGTCCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTAC CCCGTCCCCCCTCCCACCCTACCCCCTGTCCCCCCCTCCCACCCTACCCC CTGTCCCCCCCTCCCACCCTACCCCCTGTCCCCCCCTCCCACCCTACCCC CTGTCCCCCCCTCCCACCCTACCCCCTGTCCCCCCCTCCCACCCTACCCC CTGTCCCCCCCCTCCCACCCTACCCCCTGTCCCCCCCTCCCACCCTACCC CCTGTCCCCCCCTCCCACCCTACCCCCTGTCCCCCCCTCCCACCCTACCC CCTGTCCCCCCCTCCCACCCTACCCCCTGTCCCCCCCCCCACCCTACCCC CTGTCCCCCCCTCCCACCCTACCCCCTGTCCCCCCCTCCCACCCTACCCC CTGTCCCCCCCTCCCACCCTACCCCCTGTCCCCCCCTTACCCCCTTCCCC TGTCCCACTGTCCACCTTA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DNAH17_chr17_78418697_78582396	78438423	A A	AGGAGGAG others(540): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAG GGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAG GGAGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGAGGA GGGGGAGGAGGAGGGAGGAGGGGGAGGGGGAGGAGGGGGAGGAGGGAGGA GGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAG GAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAG GAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGA GGAAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAG GGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAG GAGGGAGGAGGGAGGAGGAGGAAGGAGGAGGGAGGAGGAGGAGGAGGGAG GAGGGAGGAGGGAGGAGGAGGAGGGGGAGGGAGGAGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0011 a0011	a0011c0007 a0011c0007	a0011c0007t0002 a0011c0007t0002	a0011c0007t0002g0130 a0011c0007t0002g0130	1	252	0.0040	547	c.118 others(566): Show c.11806-556_11806-555insCTCCTCCTCCTCCTCCTCCCTCCCCC TCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCT TCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCC TCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCT CCTCCTCCTCCCTCCTCCTTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCC CTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCC TCCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCC TCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCCCTCCTCCCCCTCC CCCTCCTCCCTCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCTCC CTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCCTCC TCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCCTCC TCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78438445	G G	GGAGGAGG others(540): Show GGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGAG GAGGAGGGAGGAGGAGGAGGAGGGAGGAGAGGGGAGGAGGAGGGGGAGGA GGAGGGGGGAGGAGGAGGGGGGAGGAGGAGGGGGGAGGAGGAGGGGGGGA GGAGGAGGGGGGAGGAGGAGGGGGGAGGAGGAGGGGGAGGAGGAGGGAGG AGGAGGGGAGGAGGAGGGAGGAGGAGGGAGGAGAGGAGGGAGGAGGGAGG AGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGA GGAGGAGGGAGGAGGAGGAGGAGGAGGGGGGAGGAGGAGGAGGGAGGAGG AGGAGGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGGGAGGAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0039 a0039	a0039c0121 a0039c0121	a0039c0121t0001 a0039c0121t0001	a0039c0121t0001g0036 a0039c0121t0001g0036	1	252	0.0040	547	c.118 others(566): Show c.11806-578_11806-577insTCCTCCTCCTCCTCCCCTCCCTCCTC CTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCCCCTCC TCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCC TCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCTCCTCCCTCC TCCTCCCTCCTCCTCCCCTCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCC CCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCT CCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCTCCTCCTCCCCTCTCCTCC CTCCTCCTCCTCCTCCCTCCTCCTCTCCCTCCTCCTCCTCCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCT CCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCCTCCTCCCTCCTCCTCCTC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DOCK1_chr10_126900428_127457516	126947606	T T	TTGGTGGT others(540): Show TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTAC TGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGT GGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGT ATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTG ATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTAGTTGGTAGTA TTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGG TGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAG TATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGAT GGTGGTAGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTAGTTGGT AGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0002 a0001c0024t0002	a0001c0024t0002g0061 a0001c0024t0002g0061	1	136	0.0074	547	c.47- others(564): Show c.47-23091_47-23090insGTGATGGTGGTGGTTGGTAGTATTACTG TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTAC TGTTGGTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGT ATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATG GTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTAGTTGGTAGTA TTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGA TGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAG TATTACTGTTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGGT GGTGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGT AGTATTACTGTTGGTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
EFCAB6_chr22_43523778_43817305	43730259	A A	AAAGGATG others(540): Show AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA GGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGG GAGGGGAGGAGGGAAGGGAGGGAAGGAGGGAAGGAAGAGGAAGGAGGGAA GGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGAAAGGAG GGAAGGAGGGAAGGAGGGAAGGGAGGGACGGAGGGAGGGAAGGAGGGAAG GGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAA GGGAGGGAAGGAGGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAGGG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18946.hp1 NA18947.hp2 others(4): Show NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18983.hp1 NA18984.hp2 NA19070.hp1 NA19091.hp1	a0004 a0005 a0004 a0005	a0004c0012 a0005c0004 a0004c0012 a0005c0004	a0004c0012t0001 a0005c0004t0001 a0004c0012t0001 a0005c0004t0001	a0004c0012t0001g0097 a0005c0004t0001g0103 a0005c0004t0001g0104 others(4): Show a0004c0012t0001g0097 a0005c0004t0001g0103 a0005c0004t0001g0104 a0005c0004t0001g0105 a0005c0004t0001g0106 a0005c0004t0001g0109 a0005c0004t0001g0110	7	290	0.0241	547	c.757 others(564): Show c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT TCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCC TCCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCGTCCCTCCC TTCCCTCCTTCCCTCCTTCCCTCCTTTCCTCCTTTCCTCCTTTCCCTCCT TCCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCC CTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTTCCCTCCCTC CCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCCTCCTTCCCCTCC TTCCCTCCTCCCCTCCCTCCCTCCCTCCCCTCCTTCCCTCCTCCCCTCCC TTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCCCTCCCTCCCTTCCCTCC TTTCCCTCCTCCCCTCCCTCCCTCCCTTCCCTCCTTCCCTCCCTCCATCC CTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCCTCCCCTCCTTCCCTC CCTCCCTCCCTCCATCCTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	8/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43730259	A A	AAAGGATG others(540): Show AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA GGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGG GAGGGGAGGAGGGAAGGGAGGGAAGGAGGGAAGGAAGAGGAAGGAGGGAA GGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGAGGGAAGGAG GGAAGGAGGGAAGGGAGGGACGGAGGGAGGGAAGGAGGGAAGGGAGGGAA GGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGA AGGAGGGAAGGAGGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAGGG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0244 a0002c0002t0001g0244	1	290	0.0035	547	c.757 others(564): Show c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCG TCCCTCCCTTCCCTCCTTCCCTCCTTCCCTCCTTTCCTCCTTTCCCTCCT TCCCTCCCTCCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCC CTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTTCCCTCCCTC CCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCCTCCTTCCCCTCC TTCCCTCCTCCCCTCCCTCCCTCCCTCCCCTCCTTCCCTCCTCCCCTCCC TTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCCCTCCCTCCCTTCCCTCC TTTCCCTCCTCCCCTCCCTCCCTCCCTTCCCTCCTTCCCTCCCTCCATCC CTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCCTCCCCTCCTTCCCTC CCTCCCTCCCTCCATCCTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	8/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43730259	A A	AAAGGATG others(540): Show AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGAAGGAGGGAAGGGAGG GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA GGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGG GAGGGGAGGAGGGAAGGGAGGGAAGGTAGGGAAGGAGGGAAGGAAGAGGA AGGAGGGAAGGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGA GGAAAGGAGGGAAGGAGGGAAGGAGGGAAGGGAGGGAGGGAGGGAGGGAA GGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGA AGGAGGGAAGGAGGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAGGG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02055.hp2 HG02293.hp2 others(13): Show HG01175.hp2 HG02055.hp2 HG02293.hp2 HG02622.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG03017.hp1 HG03209.hp1 HG04228.hp2 NA18939.hp1 NA18942.hp2 NA18943.hp2 NA19011.hp2 NA19043.hp1 NA20129.hp2	a0001 a0031 a0001 a0031	a0001c0001 a0001c0023 a0001c0027 others(2): Show a0001c0001 a0001c0023 a0001c0027 a0001c0046 a0031c0022	a0001c0001t0001 a0001c0001t0003 a0001c0023t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0023t0001 a0001c0027t0001 a0001c0046t0001 a0031c0022t0001	a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 others(13): Show a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0236 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0285 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0023t0001g0254 a0001c0027t0001g0075 a0001c0046t0001g0067 a0031c0022t0001g0237	16	290	0.0552	547	c.757 others(564): Show c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCCTTCCCTCCT TCCCTCCTTCCCTCCTTTCCTCCTTTCCTCCTTTCCCTCCTTCCCTCCCT CCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCCCTACCTTCC CTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTTCCCTCCCTC CCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCCTCCTTCCCCTCC TTCCCTCCTCCCCTCCCTCCCTCCCTCCCCTCCTTCCCTCCTCCCCTCCC TTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCCCTCCCTCCCTTCCCTCC TTTCCCTCCTCCCCTCCCTCCCTCCCTTCCCTCCTTCCCTCCCTCCATCC CTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCCTCCCCTCCTTCCCTC CCTCCCTCCCTCCATCCTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	8/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43730259	A A	AAAGGATG others(540): Show AAAGGATGGAGGGAGGGAGGGAGGGAAGGAGGGGAGGGAGGGAAGGGATG GAGGGAGGGAAGGAGGGAAGGGATGGAGGGAGGGGAGGAGGGAAGGGAGG GAGGGAGGGGAGGAGGGAAAGGAGGGAAGGGAGGGAGGGAGGGAAGGGAT GGAGGGAGGGGAGGAGGGAAGGGAGGGGAGGAGGGAAGGAGGGGAGGGAG GGAGGGAGGGGAGGAGGGAAGGAGGGGAAGGAGGGAAGGGAGGGAGGGGA GGGAGGGAAGGGAGGGAAGGGAGGGAGGGAAGGGAGGGAAGGGAAGGAGG GAGGGGAGGAGGGAAGGGAGGGAAGGTAGGGAAGGAGGGAAGGAAGAGGA AGGAGGGAAGGAGGGAAGGGAGGGAGGGAAGGAGGGAAAGGAGGAAAGGA GGAAAGGAGGGAAGGAGGGAAGGAGGGAAGGGAGGGAGGGAGGGAGGGAA GGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGAAGGAGGGAAGGGAGGGA AGGAGGGAAGGAGGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAGGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00558.hp2 others(58): Show HG00280.hp2 HG00423.hp2 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01169.hp2 HG01255.hp2 HG01258.hp2 HG01261.hp1 HG01934.hp2 HG02004.hp2 HG02040.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp2 HG02155.hp1 HG02300.hp2 HG02602.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG03017.hp2 HG03492.hp2 HG03834.hp1 HG04115.hp1 HG06807.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp2 NA18960.hp1 NA18962.hp2 NA18965.hp1 NA18974.hp1 NA18979.hp2 NA18999.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19057.hp1 NA19070.hp2 NA19077.hp1 NA19080.hp1 NA19081.hp1 NA19083.hp1 NA19084.hp1 NA19087.hp1 NA20905.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0013 a0001c0035 others(3): Show a0001c0001 a0001c0013 a0001c0035 a0001c0047 a0008c0008 a0008c0029	a0001c0001t0001 a0001c0001t0007 a0001c0013t0001 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0013t0001 a0001c0035t0001 a0001c0047t0001 a0008c0008t0001 a0008c0029t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 others(58): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0239 a0001c0001t0007g0238 a0001c0013t0001g0031 a0001c0035t0001g0235 a0001c0047t0001g0178 a0008c0008t0001g0026 a0008c0008t0001g0033 a0008c0008t0001g0035 a0008c0008t0001g0037 a0008c0008t0001g0202 a0008c0029t0001g0034	61	290	0.2103	547	c.757 others(564): Show c.757+1439_757+1440insCCCTCCTTCCCTCCCTCCCTCCCTCCCT TCCTTCCCTCCTTCCCTCCTTCCCTCCCTTCCCTCCTTCCCTCCCTTCCC TCCTTCCCTCCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCCTTCCCTCCT TCCCTCCTTCCCTCCTTTCCTCCTTTCCTCCTTTCCCTCCTTCCCTCCCT CCCTTCCCTCCTTCCCTCCTTCCTCTTCCTTCCCTCCTTCCCTACCTTCC CTCCCTTCCCTCCTCCCCTCCCTCCTTCCCTTCCCTCCCTTCCCTCCCTC CCTTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTCCCTCCTTCCCCTCC TTCCCTCCTCCCCTCCCTCCCTCCCTCCCCTCCTTCCCTCCTCCCCTCCC TTCCCTCCTCCCCTCCCTCCATCCCTTCCCTCCCTCCCTCCCTTCCCTCC TTTCCCTCCTCCCCTCCCTCCCTCCCTTCCCTCCTCCCCTCCCTCCATCC CTTCCCTCCTTCCCTCCCTCCATCCCTTCCCTCCCTCCCCTCCTTCCCTC CCTCCCTCCCTCCATCCTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	8/31			chr22	TogoVar
EXOC2_chr6_480154_698139	519116	A A	AAACCACC others(540): Show AAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGA GAACCAACACCCACCGAGCGCCTACACTCACCGTCCACACTCGGAGACGA GAACCACCACCCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACGCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAGAA CCACCACCCACCGAGCGCCGACACTCACCGTCCACACTCGGAGACGAG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0269 a0001c0001t0026g0269	1	272	0.0037	547	c.238 others(568): Show c.2380+13352_2380+13353insCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGTGCGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGA GTGTCGGCGCTCGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTG TAGGCGCTCGGTGGGTGTTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTG TCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTG TCGGCGCTCGGTGGGTGGTGGTTCTCGTCTCCGAGTGTGGACGGTGAGTG TCGGCGCTCGGTGGGTGGTGGTT	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
GOLGA3_chr12_132763914_132833869	132776452	A A	ACCCAGAG others(540): Show ACCCAGAGCCTCACACAGGTACCCGCAGCAGCTGCTGTAGCCCCTCCAGT TCCTTCCTCCCTGCTGCTCCCGCCTGTGCCCAGCGCCTCACACACAGGTA CCCACAGCAGCTGCTGTAGCCCCTCCAGCTCCTTCCTCCCTGCTGCTCCC GCCTGTACCCAGAGCCTCACACAGGTACCCGCAGCAGCTGCTGTAGCCCC TCCAGCTCCTTCCTCCCTGCTGCTCCCGCCTGTACCCAGCGCCTCACACA CAGGTACCCGCAGCAGCTGCTGTAGCCCCTCCAGCTCCTTCCTCCCTGCT GCTCCCGCCTGTACCCAGCGCCTCACACACAGGTACCCGCAGCAGCTGCT GTAGCCCCTCCAGTTCCTTCCTCCCTGCTGCTCCCGCCTGTGCCCAGCGC CTCACACACAGGTACCTGCAGCAGCTGCTGTAGCCCCTCCAGCTCCTTCC TCCCTGCTGCTCCCGCCTGTACCCAGAGCCTCACACAGGTACCCGCAGCA GCTGCTGTAGCCCCTCCAGTTCCTTCCTCCCTGCTGCTCCCGCCTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00738.hp1 others(25): Show HG00280.hp1 HG00438.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01175.hp2 HG01257.hp1 HG01258.hp2 HG01496.hp2 HG01517.hp2 HG02129.hp2 HG02602.hp1 HG02809.hp1 HG03490.hp2 HG03540.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 NA18906.hp1 NA18946.hp1 NA18989.hp1 NA18998.hp2 NA19004.hp2 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0025 others(1): Show a0001c0001 a0001c0003 a0001c0025 a0002c0002	a0001c0001t0003 a0001c0001t0032 a0001c0001t0033 others(7): Show a0001c0001t0003 a0001c0001t0032 a0001c0001t0033 a0001c0001t0037 a0001c0001t0055 a0001c0001t0059 a0001c0003t0054 a0001c0025t0003 a0002c0002t0003 a0002c0002t0053	a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0008 others(25): Show a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0010 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0109 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0032g0107 a0001c0001t0033g0108 a0001c0001t0037g0113 a0001c0001t0055g0009 a0001c0001t0059g0120 a0001c0003t0054g0154 a0001c0025t0003g0106 a0002c0002t0003g0240 a0002c0002t0053g0239	28	308	0.0909	547	c.397 others(564): Show c.3978+181_3978+182insCACAGGCGGGAGCAGCAGGGAGGAAGGA ACTGGAGGGGCTACAGCAGCTGCTGCGGGTACCTGTGTGAGGCTCTGGGT ACAGGCGGGAGCAGCAGGGAGGAAGGAGCTGGAGGGGCTACAGCAGCTGC TGCAGGTACCTGTGTGTGAGGCGCTGGGCACAGGCGGGAGCAGCAGGGAG GAAGGAACTGGAGGGGCTACAGCAGCTGCTGCGGGTACCTGTGTGTGAGG CGCTGGGTACAGGCGGGAGCAGCAGGGAGGAAGGAGCTGGAGGGGCTACA GCAGCTGCTGCGGGTACCTGTGTGTGAGGCGCTGGGTACAGGCGGGAGCA GCAGGGAGGAAGGAGCTGGAGGGGCTACAGCAGCTGCTGCGGGTACCTGT GTGAGGCTCTGGGTACAGGCGGGAGCAGCAGGGAGGAAGGAGCTGGAGGG GCTACAGCAGCTGCTGTGGGTACCTGTGTGTGAGGCGCTGGGCACAGGCG GGAGCAGCAGGGAGGAAGGAACTGGAGGGGCTACAGCAGCTGCTGCGGGT ACCTGTGTGAGGCTCTGGG	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	21/23			chr12	TogoVar
ITGB1BP1_chr2_9398475_9428528	9400249	T T	TCCCCTCC others(540): Show TCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGC CCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTC CTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCC CCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCC CCTTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTCC TGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCC CTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCTCCTGCCCC CCTCCCCTCCTGTACCCCTCCCCCCTCCCCTCCTGTACCCCTCCCCCCTC CTGCCCCCTCCCCTCCTGCCCCCTGCCCCCCTCCCCTCCTGCCCCCTCCC TTCCTACCCCCTCCCCTCCTGCCCCCTCCCCTCCTCCCCTCATGCCCTCC TGCCCCCTCCCCTCCTGCCCCCCCTCCCCTCCTCCCCTCCTGCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0011	1	276	0.0036	547	c.65 others(558): Show c.6584_*6585insGGGGGGCAGGAGGGGAGGAGGGGAGGGGGGGCAG GAGGGGAGGGGGCAGGAGGGCATGAGGGGAGGAGGGGAGGGGGCAGGAGG GGAGGGGGTAGGAAGGGAGGGGGCAGGAGGGGAGGGGGGCAGGGGGCAGG AGGGGAGGGGGCAGGAGGGGGGAGGGGTACAGGAGGGGAGGGGGGAGGGG TACAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAGGGGGGCAGGAGGG CAGGAGGGGAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAG GGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGGCAGGAGG GCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGG AGGAGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGA GGGGAAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGAGGG CAGGAGGGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAAG GGGGCAGGAGGGG	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding		3225		chr2	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(540): Show CTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTC CCCCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCCC CCCTCTCTCTCCCCCTCCCCCTCCCCCCTCTCCCCTCCCCCTCTCTCCCC CTCCCCCCTCCCCTCCCCCCTCTCTCCCCCTCCCCTCCCCCCTCTCTCCC CCTCCCCTCCCCCTCTCTCTCCCCCTCTCTCTCCCCCTCCCCTCCCCCCT CTCCCCTCCCCCTCCCCCATCCCCCTCCCCCATCCCCCTCCCCCATCCCC CTCCCCCATCCCCCTCCCCCATCCCCCTCCCCCTCCTTCCCTCTCCCCCT CCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCT TCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCT CTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCT CTCTCTCTCCCCCCCTTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG03017.hp1 HG01256.hp1 HG01258.hp1 HG03017.hp1	a0002 a0005 a0002 a0005	a0002c0005 a0005c0012 a0002c0005 a0005c0012	a0002c0005t0011 a0005c0012t0007 a0002c0005t0011 a0005c0012t0007	a0002c0005t0011g0096 a0005c0012t0007g0048 a0005c0012t0007g0050 a0002c0005t0011g0096 a0005c0012t0007g0048 a0005c0012t0007g0050	3	158	0.0190	547	c.11 others(568): Show c.1103+4110_*1103+4111insCCCTCCTTCCCTCTCTCTCTCCCC CTCCCCTCCCCCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCC CCCCTCCCCCCTCTCTCTCCCCCTCCCCCTCCCCCCTCTCCCCTCCCCCT CTCTCCCCCTCCCCCCTCCCCTCCCCCCTCTCTCCCCCTCCCCTCCCCCC TCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCTCTCTCCCCCTCCCC TCCCCCCTCTCCCCTCCCCCTCCCCCATCCCCCTCCCCCATCCCCCTCCC CCATCCCCCTCCCCCATCCCCCTCCCCCATCCCCCTCCCCCTCCTTCCCT CTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCC CCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCT CCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCC TTCCCTCTCTCTCTCTCCCCCCCTTCCCTCTCTCTCTCTCCCCCTCCTTC CCCCTGTCTCTCTCTCCCCCTCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(540): Show CTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTC CCCCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCCC CCCTCTCTCTCCCCCTCCCCCTCCCCCTCTCCCCTCCCCCTCTCTCCCCC TCCCCCCTCCCCTCCCCCCTCTCTCCCCCTCCCCTCCCCCCTCTCTCCCC CTCCCCTCCCCCTCTCTCTCCCCCTCTCTCTCCCCCTCCCCTCCCCCCTC TCCCCTCCCCCTCCCCCATCCCCCCTCCCCCATCCCCCTCCCCCATCCCC CTCCCCCATCCCCCTCCCCCATCCCCCTCCCCCTCCTTCCCTCTCCCCCT CCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCT TCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCT CTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCT CTCTCTCTCCCCCCCTTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0007 a0005c0012t0007	a0005c0012t0007g0047 a0005c0012t0007g0047	1	158	0.0063	547	c.11 others(568): Show c.1103+4110_*1103+4111insCCCTCCTTCCCTCTCTCTCTCCCC CTCCCCTCCCCCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCC CCCCTCCCCCCTCTCTCTCCCCCTCCCCCTCCCCCTCTCCCCTCCCCCTC TCTCCCCCTCCCCCCTCCCCTCCCCCCTCTCTCCCCCTCCCCTCCCCCCT CTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCTCTCTCCCCCTCCCCT CCCCCCTCTCCCCTCCCCCTCCCCCATCCCCCCTCCCCCATCCCCCTCCC CCATCCCCCTCCCCCATCCCCCTCCCCCATCCCCCTCCCCCTCCTTCCCT CTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCC CCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCT CCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCC TTCCCTCTCTCTCTCTCCCCCCCTTCCCTCTCTCTCTCTCCCCCTCCTTC CCCCTGTCTCTCTCTCCCCCTCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
LARS1_chr5_146108034_146187650	146174469	T T	TATATATA others(540): Show TATATATATCCATATATATATATATCCATATATATATATCCCATATATAT ATATATCCATATATATATATCCATTATAATATATATCCATATATTATATC CATATATATATATCCATATATATATCCATATATATATCCATATATATATA TCCATATATATATCCATATATATATATCCATATATATATCCATATATATA TATCCATATATATATCCATATATATATATCCATATATATATCCATATATA TATATCCATATATATATCCATATATATATATCCATATATATGGATATATA TATATCCATATATATCAATCCATATATATATCCCATATATATCTATCCAT ATATATATCCATATATCTATCCATATATTATCCATATATATATATCCATA TATATATATATCCATATATATATCCATATATATATATCCATATAATATAT ATATCCATATATATATATATCCATATATATATATCCATATATATATATAT CCATATATATATATCCATATATATATATATCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0218 a0002c0002t0002g0218	1	284	0.0035	547	c.126 others(564): Show c.126-1696_126-1695insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATATGGATATATATATATGG ATATATATATATATGGATATATATATTATATGGATATATATATATGGATA TATATATGGATATATATATATATGGATATATATATATGGATAATATATGG ATAGATATATGGATATATATATGGATAGATATATATGGGATATATATATG GATTGATATATATGGATATATATATATCCATATATATGGATATATATATA TGGATATATATATGGATATATATATATGGATATATATATGGATATATATA TATGGATATATATATGGATATATATATATGGATATATATATGGATATATA TATATGGATATATATATGGATATATATATATGGATATATATATGGATATA TATATGGATATATATATATGGATATAATATATGGATATATATTATAATGG ATATATATATATGGATATATATATATATGGGATATATATATATGGATATA TATATATATGGATATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
MYT1_chr20_64159452_64247253	64176333	C C	CCTGCAGC others(540): Show CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GTAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGGCGTCTCCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0010 a0002c0011t0010	a0002c0011t0010g0081 a0002c0011t0010g0081	1	223	0.0045	547	c.-99 others(566): Show c.-99+11596_-99+11597insGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTGCAGCATCTTTCCCTGTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCAT TCCCCCTCCCTGGCGTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(540): Show CTGTATACAGCATGTATACTGTATACAGCATGTATACTGTATGTATGTAT ACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAGTAT GTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGT ATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTAT ACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATAC TGTGTATATATACACAGTATGTATACTGCATGCAGTATGTATACTGTATA CATACTGCATGCAGTATGTATACTGTATATATACACTATACAGTATGTAT ACTGTATATATACACAATACAGTATGTATACTGTATATATACACAATACA GTATGTATACTGTATATATACACAATACAGTATGTATACTGTATATATAC ACAATACAGTATGTATACTGTATATATACACAATACAGTATGTATACTGT ATATATACACAATACAGTATGTATACTGTATATATACACAATACAGTA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0008 a0002c0006t0008	a0002c0006t0008g0124 a0002c0006t0008g0124	1	362	0.0028	547	c.-75 others(566): Show c.-75+17711_-75+17712insTACTGTATTGTGTATATATACAGTAT ACATACTGTATTGTGTATATATACAGTATACATACTGTATTGTGTATATA TACAGTATACATACTGTATTGTGTATATATACAGTATACATACTGTATTG TGTATATATACAGTATACATACTGTATTGTGTATATATACAGTATACATA CTGTATTGTGTATATATACAGTATACATACTGTATAGTGTATATATACAG TATACATACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGTAT ACATACTGTGTATATATACACAGTATACATACTGTGTATATATACGGTAT ACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATAC ATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACAT ACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATAC ATACAGTATACATACATACAGTATACATACATACAGTATACATGCTGTAT ACAGTATACATGCTGTATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(540): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTATACAGCATGTATACTGTATGTATGTATACTGTATGTATGTA TACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATA CCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACC GTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGT ATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTAT ATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATAT ATACACAGTATGTATACTGTGTATGCAGTATGTATACAGTATACATACTG CATGCAGTATGTATACTGTATACATACTGCATGCAGTATGTATACTGTAT ATATACACTATACAGTATGTATACTGTATATATACACTATACAGTATGTA TACTGTATATATACACACAGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0183 a0001c0007t0001g0183	1	362	0.0028	547	c.-75 others(566): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTATAGTGTATATATACAGT ATACATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGTATG TATACAGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCAT ACACAGTATACATACTGTGTATATATACGGTATACATACTGTGTATATAT ACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATAC GGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGG TATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTA TACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATA CATACTGTGTATATATACGGTATACATACATACAGTATACATACATACAG TATACATGCTGTATACAGTATACATGCTGTACACAGTATACATGCTGTAC ACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NPEPL1_chr20_58687800_58720844	58695018	T T	TGTTGCGT others(540): Show TGTTGCGTGTGTATGAGTGCTGGTGTGTGCATGAATGGTGTGTGTGGTGT GTTTATGTGTGGTGTGTGTTGCTGTGTGAGTGCTGGTGTGTGCATGAGTG GCGTGTGTGTGGTGTGTGTTGCTGTGTGTGTATGAGTGTTGGTGTGTGCA TGAGTGGTGTGTGTGTGCTGTGTGTATGTGTGGTGTGTGTTGCTGTGTAT GAGTGTTGGTGTGTGCATGAGTGGTGTGTGTGTGCTGTGTGTACGTGTGT GTGTTGCTGTGTGTGTGAGTGCTGGTGTGTGCATGAGTGATGTGTGTGTG GTGTGTGTGGTGTCTGTTGCTGTGTGTGTTTGAGTTCTGGTATGTGCATG AGTGGTGTGTGTGTGTGCTGTGTGTGTGGTGTGTTGCTGTGTGTGTATGA GTGCTGGTGTGTGCACGAGTGGTGTGTGTATTTGCGGTGTGTGTTGCTGT GTATATGTGAGTGCTGGTGTGTGCATGAGTGGCGTGTGTGGTGTGTATGT GTGGTGTGTGTTGCTGTTTGTGTTTGAGTGCTGATGTGTGCATGAGTG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02976.hp1 HG03139.hp2 others(1): Show HG02717.hp1 HG02976.hp1 HG03139.hp2 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0044 a0001c0004t0003g0259 a0001c0004t0003g0260 a0001c0004t0003g0044 a0001c0004t0003g0259 a0001c0004t0003g0260	4	398	0.0101	547	c.507 others(562): Show c.507+428_507+429insTGCGTGTGTATGAGTGCTGGTGTGTGCATG AATGGTGTGTGTGGTGTGTTTATGTGTGGTGTGTGTTGCTGTGTGAGTGC TGGTGTGTGCATGAGTGGCGTGTGTGTGGTGTGTGTTGCTGTGTGTGTAT GAGTGTTGGTGTGTGCATGAGTGGTGTGTGTGTGCTGTGTGTATGTGTGG TGTGTGTTGCTGTGTATGAGTGTTGGTGTGTGCATGAGTGGTGTGTGTGT GCTGTGTGTACGTGTGTGTGTTGCTGTGTGTGTGAGTGCTGGTGTGTGCA TGAGTGATGTGTGTGTGGTGTGTGTGGTGTCTGTTGCTGTGTGTGTTTGA GTTCTGGTATGTGCATGAGTGGTGTGTGTGTGTGCTGTGTGTGTGGTGTG TTGCTGTGTGTGTATGAGTGCTGGTGTGTGCACGAGTGGTGTGTGTATTT GCGGTGTGTGTTGCTGTGTATATGTGAGTGCTGGTGTGTGCATGAGTGGC GTGTGTGGTGTGTATGTGTGGTGTGTGTTGCTGTTTGTGTTTGAGTGCTG ATGTGTGCATGAGTGGT	NPEPL1	ENSG00000215440.12	transcript	ENST00000356091.11	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
NPEPL1_chr20_58687800_58720844	58695018	T T	TGTTGCGT others(540): Show TGTTGCGTGTGTATGAGTGCTGGTGTGTGCATGAATGGTGTGTGTGGTGT GTTTATGTGTGGTGTGTGTTGCTGTGTGAGTGCTGGTGTGTGCATGAGTG GCGTGTGTGTGGTGTGTGTTGCTGTGTGTGTATGAGTGTTGGTGTGTGCA TGAGTGGTGTGTGTGTGCTGTGTGTATGTGTGGTGTGTGTTGCTGTGTAT GAGTGTTGGTGTGTGCATGAGTGGTGTGTGTGTGCTGTGTGTACGTGTGT GTGTTGCTGTGTGTGTGAGTGCTGGTGTGTGCATGAGTGGTGTGTGTGTG GTGTGTGTGGTGTCTGTTGCTGTGTGTGTTTGAGTTCTGGTATGTGCATG AGTGGTGTGTGTGTGTGCTGTGTGTGTGGTGTGTTGCTGTGTGTGTATGA GTGCTGGTGTGTGCACGAGTGGTGTGTGTATTTGCGGTGTGTGTTGCTGT GTATATGTGAGTGCTGGTGTGTGCATGAGTGGCGTGTGTGGTGTGTATGT GTGGTGTGTGTTGCTGTTTGTGTTTGAGTGCTGATGTGTGCATGAGTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp2 HG02572.hp2 others(5): Show HG02257.hp1 HG02451.hp2 HG02572.hp2 HG02723.hp2 HG02922.hp2 HG03098.hp2 HG03130.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0005 a0001c0003t0003 a0001c0003t0005	a0001c0003t0003g0088 a0001c0003t0005g0028 a0001c0003t0005g0073 others(4): Show a0001c0003t0003g0088 a0001c0003t0005g0028 a0001c0003t0005g0073 a0001c0003t0005g0074 a0001c0003t0005g0075 a0001c0003t0005g0089 a0001c0003t0005g0090	8	398	0.0201	547	c.507 others(562): Show c.507+428_507+429insTGCGTGTGTATGAGTGCTGGTGTGTGCATG AATGGTGTGTGTGGTGTGTTTATGTGTGGTGTGTGTTGCTGTGTGAGTGC TGGTGTGTGCATGAGTGGCGTGTGTGTGGTGTGTGTTGCTGTGTGTGTAT GAGTGTTGGTGTGTGCATGAGTGGTGTGTGTGTGCTGTGTGTATGTGTGG TGTGTGTTGCTGTGTATGAGTGTTGGTGTGTGCATGAGTGGTGTGTGTGT GCTGTGTGTACGTGTGTGTGTTGCTGTGTGTGTGAGTGCTGGTGTGTGCA TGAGTGGTGTGTGTGTGGTGTGTGTGGTGTCTGTTGCTGTGTGTGTTTGA GTTCTGGTATGTGCATGAGTGGTGTGTGTGTGTGCTGTGTGTGTGGTGTG TTGCTGTGTGTGTATGAGTGCTGGTGTGTGCACGAGTGGTGTGTGTATTT GCGGTGTGTGTTGCTGTGTATATGTGAGTGCTGGTGTGTGCATGAGTGGC GTGTGTGGTGTGTATGTGTGGTGTGTGTTGCTGTTTGTGTTTGAGTGCTG ATGTGTGCATGAGTGGT	NPEPL1	ENSG00000215440.12	transcript	ENST00000356091.11	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
NPEPL1_chr20_58687800_58720844	58695018	T T	TGTTGCGT others(540): Show TGTTGCGTGTGTATGAGTGCTGGTGTGTGCATGAATGGTGTGTGTGGTGT GTTTATGTGTGGTGTGTGTTGCTGTGTGAGTGCTGGTGTGTGCATGAGTG GCGTGTGTGTGGTGTGTGTTGCTGTGTGTGTATGAGTGTTGGTGTGTGCA TGAGTGGTGTGTGTGTGCTGTGTGTATGTGTGGTGTGTGTTGCTGTGTAT GAGTGTTGGTGTGTGCATGAGTGGTGTGTGTGTGCTGTGTGTACGTGTGT GTGTTGCTGTGTGTGTGTTTGAGTGCTGGTGTGTGCATGAGTGGTGTGTG TGTGGTGTGTGTGGTGTCTGTTGCTGTGTGTGTTTGAGTTCTGGTATGTG CATGAGTGGTGTGTGTGTGTGCTGTGTGGTGTGTTGCTGTGTGTGTATGA GTGCTGGTGTGTGCACGAGTGGTGTGTGTATTTGCGGTGTGTGTTGCTGT GTATATGTGAGTGCTGGTGTGTGCATGAGTGGCGTGTGTGGTGTGTATGT GTGGTGTGTGTTGCTGTTTGTGTTTGAGTGCTGATGTGTGCATGAGTG	intron_variant intron_variant	MODIFIER	HG00735.hp1 NA19030.hp1 HG00735.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0003 a0001c0003t0001 a0001c0005t0003	a0001c0003t0001g0091 a0001c0005t0003g0092 a0001c0003t0001g0091 a0001c0005t0003g0092	2	398	0.0050	547	c.507 others(562): Show c.507+428_507+429insTGCGTGTGTATGAGTGCTGGTGTGTGCATG AATGGTGTGTGTGGTGTGTTTATGTGTGGTGTGTGTTGCTGTGTGAGTGC TGGTGTGTGCATGAGTGGCGTGTGTGTGGTGTGTGTTGCTGTGTGTGTAT GAGTGTTGGTGTGTGCATGAGTGGTGTGTGTGTGCTGTGTGTATGTGTGG TGTGTGTTGCTGTGTATGAGTGTTGGTGTGTGCATGAGTGGTGTGTGTGT GCTGTGTGTACGTGTGTGTGTTGCTGTGTGTGTGTTTGAGTGCTGGTGTG TGCATGAGTGGTGTGTGTGTGGTGTGTGTGGTGTCTGTTGCTGTGTGTGT TTGAGTTCTGGTATGTGCATGAGTGGTGTGTGTGTGTGCTGTGTGGTGTG TTGCTGTGTGTGTATGAGTGCTGGTGTGTGCACGAGTGGTGTGTGTATTT GCGGTGTGTGTTGCTGTGTATATGTGAGTGCTGGTGTGTGCATGAGTGGC GTGTGTGGTGTGTATGTGTGGTGTGTGTTGCTGTTTGTGTTTGAGTGCTG ATGTGTGCATGAGTGGT	NPEPL1	ENSG00000215440.12	transcript	ENST00000356091.11	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
NT5DC3_chr12_103767310_103846234	103768606	G G	GGAGGGAG others(540): Show GGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGTAGG GGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGACAGG GACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGGGAGGGGGAGGGAGAGG GAGAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGG GGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGGGAGGGGGT GGGAGGGGAGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAG GGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAG AGGGAGAGGGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGGAG GGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGAC AGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAGAGGG AGAGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGAGAGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0219 a0001c0004t0002g0219	1	386	0.0026	547	c.92 others(558): Show c.9222_*9223insTCCCTCTCTCTCCCTCTCTCTCTCACTCCCTTTC CCTCTCTCTCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCTCCCTCTCC TTCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCCAT CCCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCTCCCTCT CCCTCCCTCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCCCTCTCC CTCCCTCTCCCTCCCTCTCTCCCTCTCCCTCCCTCTCCCTGTCCCTCTCC CTCCCTCCCCTCCCACCCCCTCCCTCTCTCCCCCCTCTCCCCCTCCCCTC CCTCTCCCCCCTCCCCTCCCTCTCCCTCTCTCCCTCCCTCTCTCTCCCTC TCCCTGTCCCTCTCCCTCTCCCTCCCCCTCCCCCTCTCCCTCCCTCTCTC TCCCTCTCCCTGTCCCTGTCCCTCTCCCTCCCCCCTCCCCCTCCCTCTCT GTCCCCCCTCTCCCCCTACCCCTCCCTCTCCCTCCCTCCCTGTCCCCCCT CTCCCCCTCCCTC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3703		chr12	TogoVar
NXN_chr17_794310_984776	948824	G G	GCGGCCTC others(540): Show GCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCC TCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGC CTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCC CCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCC TCTCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCC TCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCTGCCTCCTCCTCTCCC CCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCC TCTCCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTG CCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCC CCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCT CCTCTCCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0074 a0001c0001t0005g0074	1	242	0.0041	547	c.360 others(566): Show c.360+30494_360+30495insGGGGGAGAGGAGGAGGCCGGGGGGAG AGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCG GGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAG GAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGA GAGGAGGAGGCCGGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGC AGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGCGGGGAGAGGA GGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGG GAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGC AGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGA GGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGG AGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGC CGGGGGGAGAGGAGGAGGCCG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PLA2G4C_chr19_48042846_48115817	48043533	C C	CCACCACC others(540): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCTCACC ATCACCACCACCATCATCATCACCATCACCACCATCACCACCATCTCACC ATCACCATCACCACCACCATCACCACCACCATCACCACCACCATCACCAT CACCATCACCACCACCACCATCACCACCAGCACCACCAGCACCACCACCA TCAACATCATCATCATCACCACCATCACCACCATCATCACCACCACCGTC ATCACCACCAGCACCACCATCACCACCACCATCACCACCATCTCACCATC ATCACCATCACCATCACCATCACCACCATCTCACCATCACCATCACCACC ATCATCACCACCACCATCACCACCACCATCACCATCACCATCACCACCAT CATCATCACCACCATCACCACCACCACCACCACCATCATCACCATCACCA CCATCACCACCACCATCATCATCACCACCACCACCATCACCACCATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02895.hp1 HG03486.hp1 HG02886.hp2 HG02895.hp1 HG03486.hp1	a0004 a0010 a0014 a0004 a0010 a0014	a0004c0024 a0010c0053 a0014c0065 a0004c0024 a0010c0053 a0014c0065	a0004c0024t0006 a0010c0053t0006 a0014c0065t0004 a0004c0024t0006 a0010c0053t0006 a0014c0065t0004	a0004c0024t0006g0304 a0010c0053t0006g0292 a0014c0065t0004g0052 a0004c0024t0006g0304 a0010c0053t0006g0292 a0014c0065t0004g0052	3	322	0.0093	547	c.48 others(558): Show c.4809_*4810insAGATGGTGGTGATGGTGGTGGTGGTGATGATGAT GGTGGTGGTGATGGTGGTGATGGTGATGATGGTGGTGGTGGTGGTGGTGA TGGTGGTGATGATGATGGTGGTGATGGTGATGGTGATGGTGGTGGTGATG GTGGTGGTGATGATGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTG ATGGTGATGGTGATGATGGTGAGATGGTGGTGATGGTGGTGGTGATGGTG GTGCTGGTGGTGATGACGGTGGTGGTGATGATGGTGGTGATGGTGGTGAT GATGATGATGTTGATGGTGGTGGTGCTGGTGGTGCTGGTGGTGATGGTGG TGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTG GTGGTGATGGTGATGGTGAGATGGTGGTGATGGTGGTGATGGTGATGATG ATGGTGGTGGTGATGGTGAGATGGTGGTGATGGTGGTGGTGGTGGTTATG GTGGTGGTGGTGGTGATGATGGTGATGATGATGGTGTTGATGATGGTGAT GATGATGGTGGTG	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding		4312		chr19	TogoVar
PNPLA7_chr9_137454952_137555402	137503786	G G	GAAAAAAG others(540): Show GAAAAAAGAAGAGAGAAGAAGAAAGAAATAGAAAGAAGAAGGAAGAGGAA GAAGAAAGAAGAAGAAGGAAGAAGAAGGAAGAAGAAGCAGAAAGAAGAAG AAGAAGGAAGAAGGAGGAAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAAG AAGGAAGAAGGAAAAAGAAGGAAGAAAAAGAAGGAAGAAAGAAGAAGAAG GAAGAAGAAGAAAGAAGAGGAAGAAGGAAGAAGAAAGAAGAAGGAAGAAG AAGGAAGAAGGAAGGAGAAGGAAGAAGGAAGAAAGAAGAAGAAGGAAGAA GGAAGAAGAAGGAAGAAGGAACAAGAAGGAAGAAAAAGAAGGAAGAAGGA AGAAGAAGGAAGAAGGAAGAAGAAAGAAGAAGGAAGAAGAAGAAAGAAAG AAGAAAGAAGAAGAAAGAAGAAAGGAAGAAGAAAAAAGGAAGAGGAAGAA AAGAAGAAGGAAGAAGAAAGAAGGAAGAAGAAGAAGGAAGAAGGAAGAAG AAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAAGAAGGAAGAAGGAAGA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	188	0.0053	547	c.147 others(566): Show c.1473+1827_1473+1828insTCTTCCTTCTTCCTTCTTCTTCTTCC TTCTTCCTTCTTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCTTCC TTCTTTCTTCTTCCTTCTTCTTTTCTTCCTCTTCCTTTTTTCTTCTTCCT TTCTTCTTTCTTCTTCTTTCTTCTTTCTTTCTTCTTCTTCCTTCTTCTTT CTTCTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTCTTTTTCTTCCTTCTT GTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTCTTCTTCTTTCTTCCTTCT TCCTTCTCCTTCCTTCTTCCTTCTTCTTCCTTCTTCTTTCTTCTTCCTTC TTCCTCTTCTTTCTTCTTCTTCCTTCTTCTTCTTTCTTCCTTCTTTTTCT TCCTTCTTTTTCCTTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCC TTCTTCCTCCTTCTTCCTTCTTCTTCTTCTTTCTGCTTCTTCTTCCTTCT TCTTCCTTCTTCTTCTTTCTTCTTCCTCTTCCTTCTTCTTTCTATTTCTT TCTTCTTCTCTCTTCTTTTTT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PRKCZ_chr1_2045411_2190395	2123710	G G	GTCACGGC others(540): Show GTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTAGTTAGGGTCACGGCTG TAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGT CACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTAGTTA GGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTA GTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGT GGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCA CGGCTATAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTAGTTATT TAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTG TAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0184 a0001c0003t0003g0184	1	286	0.0035	547	c.335 others(566): Show c.335-11551_335-11550insCACGGCTATAGTTGGGGTCATGGTGG TAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTG GTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGAT CATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTG GGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTA GTTAGGGTCGTGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGT GGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCA CGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGG GTCATGGTGGTAGTTAGGGTCACGGCTATAGTTAGGGTCATGGTGGTAGT TAGGGTCGTGGTGGTAGTTATTTAGGGTCACGGTGGTAGTTAGGGTCATG GTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGT CACGGCTATAGTTGGGGTCAT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAB40B_chr17_82649973_82703698	82671718	C C	CCACTGAC others(540): Show CCACTGACACACCCCACCCCTGTAACTCTAACACACACTCACATGCTCCC TGTACCCACTGACACAGCTCACCCCGTAACTCTAACACACACACTCACAT GCTCCCTGTACCCACTGACACAGCTCACCCCTGTAACTCTAACACACACA CTCACACGCTCCCTGTACTCACTGACACACCCCACCCCTGTAACTCTAAC ACACACACTCACACGCTCCCTGTACTCACTGACACACCCCAACCCTGTAA CCCTAACACACACAGTCACACATCCTGTACTCACTGACACACTTCACCCC GTAACTCTAACACACTCACACGCTCTGTACTGACACACCTCACCCCTGTA ACTCTAACACACACACTCTCACACACATCCTGTACTCACTGACACACTTC ACCCTGTAACTCTAACACACACACGCTCCCTGTACTCACTGACACACCCC ACCCCTGTAACTCTAACACACACTCACATGCTCCCTGTACTCACTGACAC ACCCCACCCCTGTAACTGTAACACACACACTCACACGCTCCCTGTACT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp1 HG02922.hp2 others(1): Show HG01243.hp1 HG02055.hp1 HG02922.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0028 a0001c0001t0002 a0001c0001t0012 a0001c0001t0028	a0001c0001t0002g0020 a0001c0001t0002g0059 a0001c0001t0012g0215 others(1): Show a0001c0001t0002g0020 a0001c0001t0002g0059 a0001c0001t0012g0215 a0001c0001t0028g0049	4	338	0.0118	547	c.143 others(564): Show c.143-7163_143-7162insAGTACAGGGAGCGTGTGAGTGTGTGTGT TACAGTTACAGGGGTGGGGTGTGTCAGTGAGTACAGGGAGCATGTGAGTG TGTGTTAGAGTTACAGGGGTGGGGTGTGTCAGTGAGTACAGGGAGCGTGT GTGTGTTAGAGTTACAGGGTGAAGTGTGTCAGTGAGTACAGGATGTGTGT GAGAGTGTGTGTGTTAGAGTTACAGGGGTGAGGTGTGTCAGTACAGAGCG TGTGAGTGTGTTAGAGTTACGGGGTGAAGTGTGTCAGTGAGTACAGGATG TGTGACTGTGTGTGTTAGGGTTACAGGGTTGGGGTGTGTCAGTGAGTACA GGGAGCGTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGGGGTGTGTCAGT GAGTACAGGGAGCGTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGAGCTG TGTCAGTGGGTACAGGGAGCATGTGAGTGTGTGTGTTAGAGTTACGGGGT GAGCTGTGTCAGTGGGTACAGGGAGCATGTGAGTGTGTGTTAGAGTTACA GGGGTGGGGTGTGTCAGTG	RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5			chr17	TogoVar
RAB40B_chr17_82649973_82703698	82671718	C C	CCACTGAC others(540): Show CCACTGACACACCCCACCCCTGTAACTCTAACACACACTCACATGCTCCC TGTACCCACTGACACAGCTCACCCTGTAACTCTAACACACACACTCACAT GCTCCCTGTACCCACTGACACAGCTCACCCCTGTAACTCTAACACACACA CTCACACGCTCCCTGTACTCACTGACACACCCCACCCCTGTAACTCTAAC ACACACACTCACACGCTCCCTGTACTCACTGACACACCCCAACCCTGTAA CCCTAACACACACAGTCACACATCCTGTACTCACTGACACACTTCACCCT GTAACTCTAACACACTCACACGCTCTCTGTACTGACACACCTCACCCCTG TAACTCTAACACACACTCTCACACACATCCTGTACTCACTGACACACTTC ACCCTGTAACTCTAACACACACACGCTCCCTGTACTCACTGACACACCCC ACCCCTGTAACTCTAACACACACTCACATGCTCCCTGTACTCACTGACAC ACCCCACCCCTGTAACTCTAACACACACACTCACACGCTCCCTGTACT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0225 a0001c0001t0007g0225	1	338	0.0030	547	c.143 others(564): Show c.143-7163_143-7162insAGTACAGGGAGCGTGTGAGTGTGTGTGT TAGAGTTACAGGGGTGGGGTGTGTCAGTGAGTACAGGGAGCATGTGAGTG TGTGTTAGAGTTACAGGGGTGGGGTGTGTCAGTGAGTACAGGGAGCGTGT GTGTGTTAGAGTTACAGGGTGAAGTGTGTCAGTGAGTACAGGATGTGTGT GAGAGTGTGTGTTAGAGTTACAGGGGTGAGGTGTGTCAGTACAGAGAGCG TGTGAGTGTGTTAGAGTTACAGGGTGAAGTGTGTCAGTGAGTACAGGATG TGTGACTGTGTGTGTTAGGGTTACAGGGTTGGGGTGTGTCAGTGAGTACA GGGAGCGTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGGGGTGTGTCAGT GAGTACAGGGAGCGTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGAGCTG TGTCAGTGGGTACAGGGAGCATGTGAGTGTGTGTGTTAGAGTTACAGGGT GAGCTGTGTCAGTGGGTACAGGGAGCATGTGAGTGTGTGTTAGAGTTACA GGGGTGGGGTGTGTCAGTG	RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5			chr17	TogoVar
RAD51B_chr14_67814779_68483093	68356548	A A	AAAAAAAA others(540): Show AAAAAAAAAATGCTAGGGATCATCGGAGCCTTCAGTGAGTTATAATCTTG CTGGTGAAGGGTCTTGCCTTAGTGTTGAAGGTTGCTGACTGTTCAGGGGG TGGTTGCTGAAGGTTGGAGTGGCTGTAGCAATTTCTTAAAAAATGACAAT AGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG AGGTGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACAGG GTGAAACCCCGTCTCTACTAAATAAATACAAAAAAATTAGCCGGGTGCAG TGGCGGGCGCCTGTGGTCCCAGCTACTCCGGAGGCTGAGGCGGGAGAATG GCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGGTTGTGTCACTGC ACTCCAACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAGTTATGTTTACACTCTACTCTATTAAAAGTGCAATAGTATTATA TTTTTTAAAAACAATATAGATTACCTAAATTTAAAATACTTAATTGCT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02145.hp2 HG01192.hp1 HG02145.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0023 a0004c0004t0001g0065 a0001c0001t0001g0023 a0004c0004t0001g0065	2	84	0.0238	547	c.854 others(566): Show c.854-54867_854-54866insTGCTAGGGATCATCGGAGCCTTCAGT GAGTTATAATCTTGCTGGTGAAGGGTCTTGCCTTAGTGTTGAAGGTTGCT GACTGTTCAGGGGGTGGTTGCTGAAGGTTGGAGTGGCTGTAGCAATTTCT TAAAAAATGACAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGATCGAGACCA TCCTGGCTAACAGGGTGAAACCCCGTCTCTACTAAATAAATACAAAAAAA TTAGCCGGGTGCAGTGGCGGGCGCCTGTGGTCCCAGCTACTCCGGAGGCT GAGGCGGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGA GGTTGTGTCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAGTTATGTTTACACTCTACTCTATTAAAAGT GCAATAGTATTATATTTTTTAAAAACAATATAGATTACCTAAATTTAAAA TACTTAATTGCTAAAAAAAAA	RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
RASGEF1C_chr5_180095795_180214211	180134844	C C	CCATCCAC others(540): Show CCATCCACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCC ACCCACCCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCAC CCACCCATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCC ATCCACCTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCAC CTTCCCCTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCC CTCCATCTACTCACCCATCCACCCACCCACCCATCCACCTTCCCCTCCAT TTATTCAACCTCCCACCCACCAACCCATCCACCTTCCCCTCTATCTATTC AACTATTCAACCACCCACCCACCCACCCACCATCCATCCACCTTCCGCTC CACCTATTCACCCATCCACCCACCCACCCATCTACCTTTCTCTCCACCTA TTCACCCATCCACCCACCCACCCATCTACCTTCCTCTCCATCTATTCAAC TATCCACCCACCCACCCACCCATCCACTTTCCCCTCCATCTATTCAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0085 a0001c0002t0085	a0001c0002t0085g0344 a0001c0002t0085g0344	1	370	0.0027	547	c.438 others(564): Show c.438+1533_438+1534insTTTGAATAGATGGAGGGGAAAGTGGATG GGTGGGTGGGTGGGTGGATAGTTGAATAGATGGAGAGGAAGGTAGATGGG TGGGTGGGTGGATGGGTGAATAGGTGGAGAGAAAGGTAGATGGGTGGGTG GGTGGATGGGTGAATAGGTGGAGCGGAAGGTGGATGGATGGTGGGTGGGT GGGTGGGTGGTTGAATAGTTGAATAGATAGAGGGGAAGGTGGATGGGTTG GTGGGTGGGAGGTTGAATAAATGGAGGGGAAGGTGGATGGGTGGGTGGGT GGATGGGTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGG GTGAGTAGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGT AGATGGAGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGG AGGGGAAGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGA AGGTGGATGGGTGGGTGGGTGGATGGGTGAGTAGATGGAGGGGAAGGTGG ATGGGTGGGTGGGTGGATG	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding	4/13			chr5	TogoVar
RECQL4_chr8_144506288_144522833	144513864	G G	GAGGGGTC others(540): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGGTCGGCGTGGGCGG TGGGGGGGAGTGAGGAGGGGTCGGCGTGTGGGCGGTGGGGAGTGAGGAGG GGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGG AGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTG GGCGGTGGGGGGTGAGGAGGGGTCGGCTGTGGGCGGTGGGAGTGAGGAGG GGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGG AGTGAGGAGGGGTCGGCGTGGGCGGTGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGG GGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGG AGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTG GGCGGTGGGGAGTGAGGAGGGGTCGGCTGTGGGCGGTGGGGAGTGAGT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0077 a0005c0010t0001g0077	1	412	0.0024	547	c.205 others(562): Show c.2058+63_2058+64insACTCACTCCCCACCGCCCACAGCCGACCCC TCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCA CGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCC CCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCC CTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCACCGCCCA CGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCC CCACCGCCCACGCCGACCCCTCCTCACTCCCACCGCCCACAGCCGACCCC TCCTCACCCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCACA GGCCGACCCCTCCTCACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCC CCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACACGCCGACC CCTCCTCACTCCCCCCCACCGCCCACGCCGACCCCCTCCTCACTCCCCAC CGCCCACGCCGACCCCT	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RGS12_chr4_3288021_3444913	3341583	G G	GTGGAGAG others(540): Show GTGGAGAGATGGGGGTATGGCGGGGAGGGGACAAGGGTGGAGAGATGGGG GTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGAGGGT GGAGAGATGGGGGTATGGCGGGGAGGGGACAAGGGTGGAGAGATGGGGGT GTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTG GAGAGATGGGGGTATGGCGGGGAGGGGACAAGGGTGGAGAGATGGGGGTG TGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGG AGAGATGAGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGTGTGGGGGG AGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGTTG GGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGG AGGGTGGAGAGATGAGGGTGTGGGGAGGGGACAAGGGTGGAGAGATGGGG GTGTGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0004 a0004	a0004c0038 a0004c0038	a0004c0038t0001 a0004c0038t0001	a0004c0038t0001g0146 a0004c0038t0001g0146	1	312	0.0032	547	c.188 others(566): Show c.1882-1344_1882-1343insGGGGTATGGCGGGGAGGGGACAAGGG TGGAGAGATGGGGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGG GGGGAGGGAGGGTGGAGAGATGGGGGTATGGCGGGGAGGGGACAAGGGTG GAGAGATGGGGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGC GGAGGGGAGGGTGGAGAGATGGGGGTATGGCGGGGAGGGGACAAGGGTGG AGAGATGGGGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGCG GAGGGGAGGGTGGAGAGATGAGGGTGTGGGGAGGGGACAAGGGTGGAGAG ATGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGGGGAGGGGA GGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGAGAGATGGGGGT GTGGGCGGAGGGGAGGGTGGAGAGATGAGGGTGTGGGGAGGGGACAAGGG TGGAGAGATGGGGGTGTGGGGAGGGAGGGTGGAGAGATGGGGGTGTGGGC GGAGGGGAGTTTGGAGAGATG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RPS6KA2_chr6_166404364_166632251	166416131	C C	CCCACCAT others(540): Show CCCACCATCACCCTCACCATCATCTTCACCACCACCTCCACCATCACCCT CGCCATCCTTTCTCCATCACCTCCACCATCACCCTCACCATCATCTTCAC CACCACCTCCACCATCACCCTCGCCATCCTTTCTCCATCACCTCCACCAT CACCCTCGCCATCATCTTCACCACCACCTCCACCATCATCCTCACCATCT CCACCATCACCCTCGCCATCCTTTCTCCATCACCTCCACCATCACCCTCG CCATCATCTTCACCACCACCTCCACCATCATCCTCACCATCTCCACCATC ACCCTCACCATCCTTCCTCCATCACCTCCACCATCCACCCTCACCATCCT TCATCACCCCCACCATCACCCTCACCATCATCTTCACCACCACCTCCACC ATCACCCTCGCCATCCTTTCTCCATCACCTCCACCATCACCCTCGCCATC ATCTTCACCACCACCTCCACCATCACCCTCGCCATCCTTTCTCCATCACC TCCACCACCACCTCCACCATCACCCTCGCCATCCTTTCTCCATCACTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG00741.hp1 others(9): Show HG00544.hp2 HG00609.hp1 HG00741.hp1 HG01168.hp2 HG01175.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG02074.hp2 HG02273.hp1 NA18948.hp2 NA18982.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0013 others(2): Show a0001c0002 a0001c0004 a0001c0013 a0001c0016 a0001c0056	a0001c0002t0013 a0001c0004t0001 a0001c0013t0001 others(3): Show a0001c0002t0013 a0001c0004t0001 a0001c0013t0001 a0001c0013t0034 a0001c0016t0002 a0001c0056t0001	a0001c0002t0013g0008 a0001c0004t0001g0087 a0001c0004t0001g0113 others(9): Show a0001c0002t0013g0008 a0001c0004t0001g0087 a0001c0004t0001g0113 a0001c0004t0001g0118 a0001c0004t0001g0135 a0001c0004t0001g0205 a0001c0004t0001g0242 a0001c0013t0001g0089 a0001c0013t0001g0134 a0001c0013t0034g0108 a0001c0016t0002g0117 a0001c0056t0001g0102	12	244	0.0492	547	c.193 others(566): Show c.1938+2093_1938+2094insAAGTGATGGAGAAAGGATGGCGAGGG TGATGGTGGAGGTGGTGGTGGAGGTGATGGAGAAAGGATGGCGAGGGTGA TGGTGGAGGTGGTGGTGAAGATGATGGCGAGGGTGATGGTGGAGGTGATG GAGAAAGGATGGCGAGGGTGATGGTGGAGGTGGTGGTGAAGATGATGGTG AGGGTGATGGTGGGGGTGATGAAGGATGGTGAGGGTGGATGGTGGAGGTG ATGGAGGAAGGATGGTGAGGGTGATGGTGGAGATGGTGAGGATGATGGTG GAGGTGGTGGTGAAGATGATGGCGAGGGTGATGGTGGAGGTGATGGAGAA AGGATGGCGAGGGTGATGGTGGAGATGGTGAGGATGATGGTGGAGGTGGT GGTGAAGATGATGGCGAGGGTGATGGTGGAGGTGATGGAGAAAGGATGGC GAGGGTGATGGTGGAGGTGGTGGTGAAGATGATGGTGAGGGTGATGGTGG AGGTGATGGAGAAAGGATGGCGAGGGTGATGGTGGAGGTGGTGGTGAAGA TGATGGTGAGGGTGATGGTGG	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	19/20			chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166416131	C C	CCCACCAT others(540): Show CCCACCATCACCCTCACCATCATCTTCACCACCACCTCCACCATCACCCT CGCCATCCTTTCTCCATCACCTCCACCATCACCCTCACCATCATCTTCAC CACCACCTCCACCATCACCCTCGCCATCCTTTCTCCATCACCTCCACCAT CACCCTCGCCATCATCTTCACCACCACCTCCACCATCATCCTCACCATCT CCACCATCACCCTCGCCATCCTTTCTCCATCACCTCCACCATCACCCTCG CCATCATCTTCACCACCACCTCCACCATCATCCTCACCATCTCCACCATC ACCCTCACCATCCTTCCTCCATCACCTCCACCATCCACCCTCACCATCCT TCATCACCCCCACCATCACCCTTACCATCATCTTCACCACCACCTCCACC ATCACCCTCGCCATCCTTTCTCCATCACCTCCACCATCACCCTCGCCATC ATCTTCACCACCACCTCCACCATCACCCTCGCCATCCTTTCTCCATCACC TCCACCACCACCTCCACCATCACCCTCGCCATCCTTTCTCCATCACTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01099.hp1 HG01109.hp1 others(61): Show HG00558.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01928.hp2 HG01943.hp1 HG01978.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02293.hp1 HG02523.hp1 HG02523.hp2 HG02698.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03041.hp2 HG03225.hp2 HG03453.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18939.hp2 NA18941.hp2 NA18946.hp1 NA18951.hp2 NA18954.hp2 NA18957.hp1 NA18961.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp2 NA18990.hp1 NA19002.hp2 NA19005.hp2 NA19007.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0006 others(22): Show a0001c0002 a0001c0003 a0001c0006 a0001c0010 a0001c0012 a0001c0016 a0001c0017 a0001c0021 a0001c0026 a0001c0027 a0001c0031 a0001c0034 a0001c0035 a0001c0036 a0001c0043 a0001c0044 a0001c0045 a0001c0051 a0001c0053 a0001c0055 a0001c0058 a0001c0059 a0001c0060 a0001c0061 a0001c0065	a0001c0002t0002 a0001c0002t0007 a0001c0002t0009 others(29): Show a0001c0002t0002 a0001c0002t0007 a0001c0002t0009 a0001c0002t0013 a0001c0003t0046 a0001c0006t0002 a0001c0006t0008 a0001c0010t0008 a0001c0012t0002 a0001c0012t0042 a0001c0016t0044 a0001c0016t0045 a0001c0017t0041 a0001c0021t0002 a0001c0021t0009 a0001c0026t0002 a0001c0027t0002 a0001c0031t0007 a0001c0034t0025 a0001c0035t0024 a0001c0036t0002 a0001c0043t0015 a0001c0044t0013 a0001c0045t0043 a0001c0051t0015 a0001c0053t0008 a0001c0055t0007 a0001c0058t0008 a0001c0059t0015 a0001c0060t0016 a0001c0061t0015 a0001c0065t0008	a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0091 others(61): Show a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0091 a0001c0002t0002g0093 a0001c0002t0002g0103 a0001c0002t0002g0105 a0001c0002t0002g0110 a0001c0002t0002g0116 a0001c0002t0002g0120 a0001c0002t0002g0130 a0001c0002t0002g0133 a0001c0002t0002g0136 a0001c0002t0002g0165 a0001c0002t0002g0169 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0202 a0001c0002t0002g0207 a0001c0002t0002g0209 a0001c0002t0007g0082 a0001c0002t0007g0090 a0001c0002t0007g0092 a0001c0002t0007g0138 a0001c0002t0009g0107 a0001c0002t0009g0119 a0001c0002t0009g0150 a0001c0002t0009g0173 a0001c0002t0013g0010 a0001c0002t0013g0016 a0001c0003t0046g0021 a0001c0006t0002g0159 a0001c0006t0008g0164 a0001c0010t0008g0151 a0001c0010t0008g0179 a0001c0012t0002g0026 a0001c0012t0002g0036 a0001c0012t0002g0060 a0001c0012t0002g0062 a0001c0012t0042g0061 a0001c0016t0044g0186 a0001c0016t0045g0196 a0001c0017t0041g0124 a0001c0021t0002g0137 a0001c0021t0009g0095 a0001c0021t0009g0096 a0001c0026t0002g0163 a0001c0026t0002g0206 a0001c0027t0002g0166 a0001c0027t0002g0203 a0001c0031t0007g0027 a0001c0034t0025g0005 a0001c0035t0024g0006 a0001c0036t0002g0051 a0001c0043t0015g0220 a0001c0044t0013g0019 a0001c0045t0043g0123 a0001c0051t0015g0195 a0001c0053t0008g0126 a0001c0055t0007g0080 a0001c0058t0008g0145 a0001c0059t0015g0153 a0001c0060t0016g0200 a0001c0061t0015g0073 a0001c0065t0008g0233	64	244	0.2623	547	c.193 others(566): Show c.1938+2093_1938+2094insAAGTGATGGAGAAAGGATGGCGAGGG TGATGGTGGAGGTGGTGGTGGAGGTGATGGAGAAAGGATGGCGAGGGTGA TGGTGGAGGTGGTGGTGAAGATGATGGCGAGGGTGATGGTGGAGGTGATG GAGAAAGGATGGCGAGGGTGATGGTGGAGGTGGTGGTGAAGATGATGGTA AGGGTGATGGTGGGGGTGATGAAGGATGGTGAGGGTGGATGGTGGAGGTG ATGGAGGAAGGATGGTGAGGGTGATGGTGGAGATGGTGAGGATGATGGTG GAGGTGGTGGTGAAGATGATGGCGAGGGTGATGGTGGAGGTGATGGAGAA AGGATGGCGAGGGTGATGGTGGAGATGGTGAGGATGATGGTGGAGGTGGT GGTGAAGATGATGGCGAGGGTGATGGTGGAGGTGATGGAGAAAGGATGGC GAGGGTGATGGTGGAGGTGGTGGTGAAGATGATGGTGAGGGTGATGGTGG AGGTGATGGAGAAAGGATGGCGAGGGTGATGGTGGAGGTGGTGGTGAAGA TGATGGTGAGGGTGATGGTGG	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	19/20			chr6	TogoVar
SCAMP1_chr5_78355617_78485739	78430084	A A	AGTATTTG others(540): Show AGTATTTGTTTATAAATACAGTATTTGTTTATAAATACTGTATTTGTTTA TAAATACTGTATTTGTTTATAAATACTGTATTTGTTTATAAATACTGTAT TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTA TAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTAT TTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAAT ACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATT TATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0176 a0001c0001t0008g0176	1	332	0.0030	547	c.632 others(564): Show c.632+8130_632+8131insGTTTATAAATACAGTATTTGTTTATAAA TACTGTATTTGTTTATAAATACTGTATTTGTTTATAAATACTGTATTTGT TTATAAATACTGTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTAT TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar

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Search Results (Total: 10000 hits)