Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CAPN11_chr6_44153820_44189401	44181925	C C	CTCACATA others(564): Show CTCACATACAGACACAACCACACCACACTCACACACACACATACACACTC ACATACAGACACAACCACACCACACTCACACACACATACACACTCACATA CAGACACAACCACACCACACACACACATACACACTCACATACAGACACAA CCACACCACACTCACACATACACACTCACATACAGACACAACCACACCAC ACTCACACACACACACTCACATACAGACACAACCACACCACACTCACACA CACACACACTCACATACAGACACAACCACACCACACTCACACACACACAT ACACACTCACATACAGACACAACCACACCACACTCACACACACATACACA CTCACATACAGACACAACCACACCACACTCACACACACATACACACTCAC ATACAGACACAACCACACCACACTCACACACACACATACACACTCACATA CAGACACAACCACACCACACTCACACACACACATACACACTCACATACAG ACACAACCACACCACACACACACACACTCACATACAGACACAACCACACC ACACTCACACACACATACACAG	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0337 a0001c0001t0001g0337	1	460	0.0022	571	c.193 others(588): Show c.1938+690_1938+691insTACACACTCACATACAGACACAACCACA CCACACACACACATACACACTCACATACAGACACAACCACACCACACTCA CACATACACACTCACATACAGACACAACCACACCACACTCACACACACAC ACTCACATACAGACACAACCACACCACACTCACACACACACACACTCACA TACAGACACAACCACACCACACTCACACACACACATACACACTCACATAC AGACACAACCACACCACACTCACACACACATACACACTCACATACAGACA CAACCACACCACACTCACACACACATACACACTCACATACAGACACAACC ACACCACACTCACACACACACATACACACTCACATACAGACACAACCACA CCACACTCACACACACACATACACACTCACATACAGACACAACCACACCA CACACACACACACTCACATACAGACACAACCACACCACACTCACACACAC ATACACAGTCACATACAGACACAACCACACCACACTCACACACACACATA CACACTCACATACAGACACAACCACACCACACTCACACACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44181933	C C	CAGACACA others(564): Show CAGACACAACCACACCACACTCACACACACACATACACACTCACATACAG ACACAACCACACCACACTCACACACACACATACACACTCACATACAGACA CAACCACACCACACACACACATACACACTCACATACAGACACAACCACAC CACACTCACACATACACACTCACATACAGACACAACCACACCACACTCAC ACACACACACTCACATACAGACACAACCACACCACACTCACACACACACA CACTCACATACAGACACAACCACACCACACTCACACACACACATACACAC TCACATACAGACACAACCACACCACACTCACACACACATACACACTCACA TACAGACACAACCACACCACACTCACACACACATACACACTCACATACAG ACACAACCACACCACACTCACACACACACATACACACTCACATACAGACA CAACCACACCACACTCACACACACACATACACACTCACATACAGACACAA CCACACCACACACACACACACTCACATACAGACACAACCACACCACACTC ACACACACATACACAGTCACAT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0037 a0001c0011t0001g0037	1	460	0.0022	571	c.193 others(588): Show c.1938+737_1938+738insCACTCACATACAGACACAACCACACCAC ACTCACACATACACACTCACATACAGACACAACCACACCACACTCACACA CACACACTCACATACAGACACAACCACACCACACTCACACACACACACAC TCACATACAGACACAACCACACCACACTCACACACACACATACACACTCA CATACAGACACAACCACACCACACTCACACACACATACACACTCACATAC AGACACAACCACACCACACTCACACACACATACACACTCACATACAGACA CAACCACACCACACTCACACACACACATACACACTCACATACAGACACAA CCACACCACACTCACACACACACATACACACTCACATACAGACACAACCA CACCACACACACACACACTCACATACAGACACAACCACACCACACTCACA CACACATACACAGTCACATAGACACAACCACACCACACTCACACACACAC ATACACACTCACATACAGACACAACCACACCACACTCACACACACACATA CACACTCACATACAGACACAACCACACCACACACACACATACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182043	A A	ACACACAC others(564): Show ACACACACACATACACACTCACATACAGACACAACCACACCACACTCACA CATACACACTCACATACAGACACAACCACACCACACTCACACACACACAC TCACATACAGACACAACCACACCACACTCACACACACACACACTCACATA CAGACACAACCACACCACACTCACACACACACATACACACTCACATACAG ACACAACCACACCACACTCACACACACATACACACTCACATACAGACACA ACCACACCACACTCACACACACATACACACTCACATACAGACACAACCAC ACCACACTCACACACACACATACACACTCACATACAGACACAACCACACC ACACTCACACACACACATACACACTCACATACAGACACAACCACACCACA CACACACACACTCACATACAGACACAACCACACCACACTCACACACACAT ACACAGTCACATACAGACACAACCACACCACACTCACACACACACATACA CACTCACATACAGACACAACCACACCACACTCACACACACACATACACAC TCACATACAGACACAACCACAC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	460	0.0022	571	c.193 others(588): Show c.1938+737_1938+738insCACTCACATACAGACACAACCACACCAC ACTCACACATACACACTCACATACAGACACAACCACACCACACTCACACA CACACACTCACATACAGACACAACCACACCACACTCACACACACACACAC TCACATACAGACACAACCACACCACACTCACACACACACATACACACTCA CATACAGACACAACCACACCACACTCACACACACATACACACTCACATAC AGACACAACCACACCACACTCACACACACATACACACTCACATACAGACA CAACCACACCACACTCACACACACACATACACACTCACATACAGACACAA CCACACCACACTCACACACACACATACACACTCACATACAGACACAACCA CACCACACACACACACACTCACATACAGACACAACCACACCACACTCACA CACACATACACAGTCACATACAGACACAACCACACCACACTCACACACAC ACATACACACTCACATACAGACACAACCACACCACACTCACACACACACA TACACACTCACATACAGACACAACCACACCACACACACATACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDH4_chr20_61247261_61945617	61353603	A A	ACTGCCTT others(564): Show ACTGCCTTCCTCCCCCTCCTCCCCTTCCCCCTCCCCCCTCCTCTGTCTTC CCCCTACTCCTCCCCTTCTCCCTCCCCCTTCTCCCCCTCTTCCTCCCCTT CCCCCCCTCCTCTTCCCCCCTCCTCCTCCTCCCCTTCCCCCTCCCATTAC CCCTTCTCCTCCTCCTCTTCCTCCCCCTCCTCCTCTTCTTCCTCCTCTTC CCTCTCCTCCTCCTCCCCCTCCTCCCCCTCCCCCTGTTCCCCTTTTCCTC TGGAAGGCGATGAGAATACAGTATGATGATTCACCCTTCCCCTCCCCCTC CCCCTCCCTCCTCCTCCCCCTACTCTTCCTCCCCCTCCTCCTCCCTCTCC CCTCCCTCTCCTTCCCCTCCCTCCTCCTCCTCCCCCTCCCCTCCTCCTCC TCTTCCCCCTCCTCCTCTTCTTCCTCCCTTCCCCCTCCTCCTCCTCCCTC TCCTCCTCCTCCCCCTGTTCCCTTTTCCTCTGGAAGGTGATGAGAGTACA GTATGATGATTCACCCTCCCCCCCCCTCCTCCCTCCCCCTCCCCTCCTCC TCCTCTTCCCCCTCCACCTCTT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0020 a0002c0005t0020	a0002c0005t0020g0056 a0002c0005t0020g0056	1	106	0.0094	571	c.169 others(590): Show c.169+98668_169+98669insGCCTTCCTCCCCCTCCTCCCCTTCCC CCTCCCCCCTCCTCTGTCTTCCCCCTACTCCTCCCCTTCTCCCTCCCCCT TCTCCCCCTCTTCCTCCCCTTCCCCCCCTCCTCTTCCCCCCTCCTCCTCC TCCCCTTCCCCCTCCCATTACCCCTTCTCCTCCTCCTCTTCCTCCCCCTC CTCCTCTTCTTCCTCCTCTTCCCTCTCCTCCTCCTCCCCCTCCTCCCCCT CCCCCTGTTCCCCTTTTCCTCTGGAAGGCGATGAGAATACAGTATGATGA TTCACCCTTCCCCTCCCCCTCCCCCTCCCTCCTCCTCCCCCTACTCTTCC TCCCCCTCCTCCTCCCTCTCCCCTCCCTCTCCTTCCCCTCCCTCCTCCTC CTCCCCCTCCCCTCCTCCTCCTCTTCCCCCTCCTCCTCTTCTTCCTCCCT TCCCCCTCCTCCTCCTCCCTCTCCTCCTCCTCCCCCTGTTCCCTTTTCCT CTGGAAGGTGATGAGAGTACAGTATGATGATTCACCCTCCCCCCCCCTCC TCCCTCCCCCTCCCCTCCTCCTCCTCTTCCCCCTCCACCTCTTCT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL19A1_chr6_69861556_70217468	69920974	G G	GTATATTC others(564): Show GTATATTCATATATATATTCATATGTATATTCATATATATGATATATATC ATATATACATATGATATATACATGATATATATGATATATATGATATATAT GATATATACATGATATATATGATACATATGATATATATGATATATATATG ATACAAATGATATATATGATATATATGATATATATCAGATATATATATCA TATATATCATATATATCATTTGTATCATATATATATCATATATATCATAT GTATCATATATATCATGTATATATCATATATATCATATATATCATATATG TATTCATATATATCATATATATTCATATATCATATATATTCATATATATC ATATATTCATATATATCATATATATTCATATATATCATATATTCATATAT ATCATATATATTCATATATATATCATATATATTCATATATATATCATATA TATTCATATATATATCATATATATTCATATATATATCATATATATTCATA TATATATCATATATATTCATATATATATCATATATATTCATATATATATC ATATATATTCATATATATCATA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0156 a0001c0001t0041g0156	1	182	0.0055	571	c.267 others(588): Show c.267-6912_267-6911insGTATATTCATATATATGATATATATCAT ATATACATATGATATATACATGATATATATGATATATATGATATATATGA TATATACATGATATATATGATACATATGATATATATGATATATATATGAT ACAAATGATATATATGATATATATGATATATATCAGATATATATATCATA TATATCATATATATCATTTGTATCATATATATATCATATATATCATATGT ATCATATATATCATGTATATATCATATATATCATATATATCATATATGTA TTCATATATATCATATATATTCATATATCATATATATTCATATATATCAT ATATTCATATATATCATATATATTCATATATATCATATATTCATATATAT CATATATATTCATATATATATCATATATATTCATATATATATCATATATA TTCATATATATATCATATATATTCATATATATATCATATATATTCATATA TATATCATATATATTCATATATATATCATATATATTCATATATATATCAT ATATATTCATATATATCATATATATTCATATATATATTCATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL19A1_chr6_69861556_70217468	69920974	G G	GTATATTC others(564): Show GTATATTCATATATATATTCATATGTATATTCATATATATGATATATATC ATATATACATATGATATATACATGATATATATGATATATATGATATATAT GATATATATATGATATATATGATACATATGATATATATGATATATATATG ATACAAATGATATATATGATATATATGATATATATCAGATATATATATCA TATATATCATATATATCATTTGTATCATATATATATCATATATATCATAT GTATCATATATATCATGTATATATCATATATATCATATATATCATATATG TATTCATATATATCATATATATTCATATATCATATATATTCATATATATC ATATATTCATATATATCATATATATTCATATATATCATATATTCATATAT ATCATATATATTCATATATATATCATATATATTCATATATATATCATATA TATTCATATATATATCATATATATTCATATATATATCATATATATTCATA TATATATCATATATATTCATATATATATCATATATATTCATATATATATC ATATATATTCATATATATCATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01069.hp1 HG01978.hp1 others(2): Show HG00438.hp2 HG01069.hp1 HG01978.hp1 NA18941.hp2 NA21309.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0001c0005 a0001c0008 others(1): Show a0001c0001 a0001c0005 a0001c0008 a0012c0024	a0001c0001t0001 a0001c0005t0032 a0001c0008t0004 others(2): Show a0001c0001t0001 a0001c0005t0032 a0001c0008t0004 a0001c0008t0030 a0012c0024t0028	a0001c0001t0001g0083 a0001c0005t0032g0165 a0001c0008t0004g0060 others(2): Show a0001c0001t0001g0083 a0001c0005t0032g0165 a0001c0008t0004g0060 a0001c0008t0030g0082 a0012c0024t0028g0092	5	182	0.0275	571	c.267 others(588): Show c.267-6912_267-6911insGTATATTCATATATATGATATATATCAT ATATACATATGATATATACATGATATATATGATATATATGATATATATGA TATATATATGATATATATGATACATATGATATATATGATATATATATGAT ACAAATGATATATATGATATATATGATATATATCAGATATATATATCATA TATATCATATATATCATTTGTATCATATATATATCATATATATCATATGT ATCATATATATCATGTATATATCATATATATCATATATATCATATATGTA TTCATATATATCATATATATTCATATATCATATATATTCATATATATCAT ATATTCATATATATCATATATATTCATATATATCATATATTCATATATAT CATATATATTCATATATATATCATATATATTCATATATATATCATATATA TTCATATATATATCATATATATTCATATATATATCATATATATTCATATA TATATCATATATATTCATATATATATCATATATATTCATATATATATCAT ATATATTCATATATATCATATATATTCATATATATATTCATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL19A1_chr6_69861556_70217468	69920974	G G	GTATATTC others(564): Show GTATATTCATATATATATTCATATGTATATTCATATATATGATATATATC ATATATACATATGATATATACATGATATATATGATATATATGATATATAT GATATATATATGATATATATGATACATATGATATATATGATATATATATG ATACAAATGATATATATGATATATATGATATATATCAGATATATATATCA TATATATCATATATATCATTTGTATCATATATATATCATATATATCATTT GTATCATATATATCATGTATATATCATATATATCATATATATCATATATG TATTCATATATATCATATATATTCATATATCATATATATTCATATATATC ATATATTCATATATATCATATATATTCATATATATCATATATTCATATAT ATCATATATATTCATATATATATCATATATATTCATATATATATCATATA TATTCATATATATATCATATATATTCATATATATATCATATATATTCATA TATATATCATATATATTCATATATATATCATATATATTCATATATATATC ATATATATTCATATATATCATA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0028 a0001c0002t0024g0028	1	182	0.0055	571	c.267 others(588): Show c.267-6912_267-6911insGTATATTCATATATATGATATATATCAT ATATACATATGATATATACATGATATATATGATATATATGATATATATGA TATATATATGATATATATGATACATATGATATATATGATATATATATGAT ACAAATGATATATATGATATATATGATATATATCAGATATATATATCATA TATATCATATATATCATTTGTATCATATATATATCATATATATCATTTGT ATCATATATATCATGTATATATCATATATATCATATATATCATATATGTA TTCATATATATCATATATATTCATATATCATATATATTCATATATATCAT ATATTCATATATATCATATATATTCATATATATCATATATTCATATATAT CATATATATTCATATATATATCATATATATTCATATATATATCATATATA TTCATATATATATCATATATATTCATATATATATCATATATATTCATATA TATATCATATATATTCATATATATATCATATATATTCATATATATATCAT ATATATTCATATATATCATATATATTCATATATATATTCATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
CUL4A_chr13_113204613_113272108	113232265	C C	CGCCCACC others(564): Show CGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGCCA CCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCAT TACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTG CCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACTATTACTGCT GCTGCCACCACCAGTATTACTGTCACCGCCACCACCGCTATTACTACTGC CACCACCACCTGTCCACCACCATTACTGTCACCACTACCTGCCCACCACC ATTACTGCTGCCACCACTACCCGCCCACCACTATTACTGCTGCTGCCACC ACCAGTATTACTGTCACCGCCACCACCGCTATTACTACTGCCACCACCAC CTGTCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGCT GCCACCACTACCCGCCCACCACTATTACTGCTGCTGCCACCACCAGTATT ACTGTCACCGCCACCACCGCTATTACTACTGCCACCACCACCTGTCCACC ACCATTACTGTCACCACTACCT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	396	0.0025	571	c.513 others(586): Show c.513-903_513-902insCATTACTGTCACCACTACCTGCCCACCACC ATTACTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGC CCACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCA CCACTACCTGCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCAC TATTACTGCTGCTGCCACCACCAGTATTACTGTCACCGCCACCACCGCTA TTACTACTGCCACCACCACCTGTCCACCACCATTACTGTCACCACTACCT GCCCACCACCATTACTGCTGCCACCACTACCCGCCCACCACTATTACTGC TGCTGCCACCACCAGTATTACTGTCACCGCCACCACCGCTATTACTACTG CCACCACCACCTGTCCACCACCATTACTGTCACCACTACCTGCCCACCAC CATTACTGCTGCCACCACTACCCGCCCACCACTATTACTGCTGCTGCCAC CACCAGTATTACTGTCACCGCCACCACCGCTATTACTACTGCCACCACCA CCTGTCCACCACCATTACTGTCACCACTACCTGCCCACCAC	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
DECR2_chr16_396885_417482	397716	G G	GTGAGGGA others(564): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	367	0.0027	571	c.-42 others(582): Show c.-4248_-4247insTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4168		chr16	TogoVar
DIDO1_chr20_62872743_62931505	62875260	G G	GCACCCGC others(564): Show GCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCGC ACCCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCGCA CCCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCCACCCGCA CCCGCACCCCCACCCGCACCCCCACCCCCACCCCCACCCTCACCCCCACC CGCACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCC CACCCGCACCCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCAC CCCCACCCGCACCCCCACCCGCACCTCCACCCCCACCCGCACCCGCACCC CCACCCCCACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTC ACCCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCTCACCCCCAC CCTCACCCCGCACCCCGCACCCCCACCCTCACCCCCACCCTCACCCCCAC CCTCACCCGCACCCCCACCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0004 a0002c0015t0004	a0002c0015t0004g0039 a0002c0015t0004g0039	1	320	0.0031	571	c.39 others(582): Show c.3972_*3973insGGGGGTGGGGGTGCGGGTGAGGGTGGGGGTGAGG GTGGGGGTGAGGGTGGGGGTGCGGGGTGCGGGGTGAGGGTGGGGGTGAGG GTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGAGGGTGGGGGT GGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGC GGGTGGGGGTGGAGGTGCGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGG GTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGT GCGGGTGCGGGTGGGGGTGGGGGTGGGGGGTGCGGGTGGGGGTGGGGGTG GGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGAG GGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGG GTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGGTGCGGGTGCGGG TGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGGTGCGGGTGGGGGT GGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2482		chr20	TogoVar
DIDO1_chr20_62872743_62931505	62875320	C C	CCACCCCC others(564): Show CCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCGCACCCGC ACCCCCACCCCCACCCCCACCCGCACCCCCACCCGCACCCGCACCCCCAC CCGCACCCGCACCCCCACCCCCACCCCGACCCCCACCCGCACCCCCACCC CCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCCGCACCCCC ACCCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCCCCAC CCCCACCCCCACCCGCACCCGCACCCCCACCCGCACCCGCACCCCCACCC CCACCCCGACCCCCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGC ACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCCGCACCCGCAC CCCCACCCCCACCCGCACCCCCACCCCCACCCCCCACCCCCACCCGCACC CGCACCCCCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCC CACCCCCACCCCCACCCGCACCCGCACCCCCACCCCCACCCCCACCCGCA CCCGCACCCCCACCCCCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0155 a0005c0005t0002g0155	1	320	0.0031	571	c.39 others(582): Show c.3912_*3913insCGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGG TGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTG GGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGG GGTGGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGCGG GTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCGGGTGCGGGT GGGGGTGGGGGTGGGGGTGCGGGTGGGGGTCGGGGTGGGGGTGGGGGTGC GGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGG GTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGT GCGGGTGCGGGTGGGGGTGCGGGTGCGGGTGGGGGTGGGGGTGGGGGTGC GGGTGGGGGTCGGGGTGGGGGTGGGGGTGCGGGTGCGGGTGGGGGTGCGG GTGCGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGCGGGT GGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2422		chr20	TogoVar
DISP3_chr1_11474155_11542551	11522759	G G	GAGCCCAG others(564): Show GAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCC AGCCAGAGCCCAGCCAGGACCCAGCCAAGACCCAGCCAGGACCCAGCCAG AGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCA GCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGG ACCCAGCCAAGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAG CCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGA CCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGC CAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGC CCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCC AGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCC CAGCCAAGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCA GAGCCCAGCCAGGGCCCAGCGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp2 NA18906.hp2 HG01243.hp1 HG02109.hp2 NA18906.hp2	a0001 a0004 a0001 a0004	a0001c0007 a0001c0050 a0004c0027 a0001c0007 a0001c0050 a0004c0027	a0001c0007t0005 a0001c0050t0001 a0004c0027t0001 a0001c0007t0005 a0001c0050t0001 a0004c0027t0001	a0001c0007t0005g0046 a0001c0050t0001g0314 a0004c0027t0001g0310 a0001c0007t0005g0046 a0001c0050t0001g0314 a0004c0027t0001g0310	3	358	0.0084	571	c.236 others(590): Show c.2363-1183_2363-1182insAGCCCAGCCAGAGCCCAGCCAGGACC CAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCA AGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCC AGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAG GACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGACCCAGCCAGGACCCA GCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGG ACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAG CCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGA CCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGC CAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGC CCAGCCAGGACCCAGCCAGAGCCCAGCCAAGACCCAGCCAGGACCCAGCC AGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGA	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20			chr1	TogoVar
DYM_chr18_49031387_49465645	49440818	T T	TTATATAA others(564): Show TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATGACTATATATTATATATTTATATAATATATGACTATATATTATATAT TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATGACTATATATTATATATTTATATAATATATGACTATATATTATATAT TTATATAATATATGACTATATATTATATATTTATATAATATATGACTATA TATTATATATTTATATAATATATGACTATATATTATATATTTATATAATA TATGACTATATATTATATATTTATATAATATATGACTATATATTATATAT TTATATAATATATTTATATAAATACATTATATTTTATATATTTATATAAA TACATTATATTTTATATATTTATATAAATATATTATATTTTATATAATAT ATTATATATAATATATATAATA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0228 a0001c0001t0003g0228	1	290	0.0035	571	c.-53 others(590): Show c.-53-10372_-53-10371insTATTATATATATTATATATAATATAT TATATAAAATATAATATATTTATATAAATATATAAAATATAATGTATTTA TATAAATATATAAAATATAATGTATTTATATAAATATATTATATAAATAT ATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATATT ATATAAATATATAATATATAGTCATATATTATATAAATATATAATATATA GTCATATATTATATAAATATATAATATATAGTCATATATTATATAAATAT ATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATATT ATATAAATATATAATATATAGTCATATATTATATAAATATATAATATATA GTCATATATTATATAAATATATAATATATAGTCATATATTATATAAATAT ATAATATATAGTCATATATTATATAAATATATAATATATAGTCATATATT ATATAAATATATAATATATAGTCATATATTATATAAATATATAATATATA GTCATATATTATATAAATATATAATATATAGTCATATATTATATA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
EBF2_chr8_25836725_26050413	26005387	A A	ATATTATA others(564): Show ATATTATATATTATATATATTATATAAATATATAATATATTATATATAAT TATATAAATATATAATATATTACATATAATTATATATTATATATTATATA TAATATATAATTATATGTAATATATTATATATATTATATATTATATATAT ATTATATATATAATATATTTTATATATTAAATTATATATAATATATATTA TATATATAATTTATATATATAAAATATATTATATATTATATAAATATATA TATTTTATATATATAAAATATATATTTTATAATATATAATATAGAAATAT ATATTATATAATATATAATTATATATAATTATATATTATATAATATATAT TTCTATATTATATATTTATAATGTATAATATATAAATATATTATAAATAT ATATTATATACTATATAATGCATTATAAATATATTATATTTATATATTAT AAATATATTACATATTTATATATTATATATATAATATATATATTATATAT TATAAATATATTTTATAAAATATAATATATATATTATTATTATATTTTAT AAAATATAATAATAATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0195 a0001c0002t0003g0195	1	220	0.0046	571	c.551 others(590): Show c.551+27697_551+27698insATATATATTATTATTATATTTTATAA AATATAATAATAATATATATATTATATTTTATAAAATATATTTATAATAT ATAATATATATATTATATATATAATATATAAATATGTAATATATTTATAA TATATAAATATAATATATTTATAATGCATTATATAGTATATAATATATAT TTATAATATATTTATATATTATACATTATAAATATATAATATAGAAATAT ATATTATATAATATATAATTATATATAATTATATATTATATAATATATAT TTCTATATTATATATTATAAAATATATATTTTATATATATAAAATATATA TATTTATATAATATATAATATATTTTATATATATAAATTATATATATAAT ATATATTATATATAATTTAATATATAAAATATATTATATATATAATATAT ATATAATATATAATATATATAATATATTACATATAATTATATATTATATA TAATATATAATATATAATTATATGTAATATATTATATATTTATATAATTA TATATAATATATTATATATTTATATAATATATATAATATATAATA	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EIPR1_chr2_3183970_3382818	3331228	T T	TAGTGTCA others(564): Show TAGTGTCAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGTCAGCAG AGGCAGGTGTGTATACACCCATGAGATGGTGTGAGCAGAGGCAGGTGTGT ATACACCCATGAGATGGTGTGAGCAGAGGCAGGTGTGTATACACCCATGA GATGGTGTCAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGTCAGC AGAGGCAGGTGTGTATACACCCATGAGATGGTGTCAGCAGAGGCAGGTGT GTATACACCCATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACACCCAT GAGATGGTGTCAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGTCA GCAGAGGCAGGTGTGTATACACCCATGAGATGGTGTCAGCAGAGGCAGGT GTGTATACACCCATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACACCC ATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGT CAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGTCAGCAGAGGCAG GTGTGTATACACCCATGAGATG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03098.hp2 NA18906.hp2 others(1): Show HG02970.hp2 HG03098.hp2 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0001 a0001c0002t0005	a0001c0002t0001g0092 a0001c0002t0005g0078 a0001c0002t0005g0093 others(1): Show a0001c0002t0001g0092 a0001c0002t0005g0078 a0001c0002t0005g0093 a0001c0002t0005g0094	4	250	0.0160	571	c.259 others(588): Show c.259+6788_259+6789insCATCTCATGGGTGTATACACACCTGCCT CTGCTGACACCATCTCATGGGTGTATACACACCTGCCTCTGCTGACACCA TCTCATGGGTGTATACACACCTGCCTCTGCTGACACCATCTCATGGGTGT ATACACACCTGCCTCTGCTGACACCATCTCATGGGTGTATACACACCTGC CTCTGCTGACACCATCTCATGGGTGTATACACACCTGCCTCTGCTGACAC CATCTCATGGGTGTATACACACCTGCCTCTGCTGACACCATCTCATGGGT GTATACACACCTGCCTCTGCTGACACCATCTCATGGGTGTATACACACCT GCCTCTGCTGACACCATCTCATGGGTGTATACACACCTGCCTCTGCTGAC ACCATCTCATGGGTGTATACACACCTGCCTCTGCTGACACCATCTCATGG GTGTATACACACCTGCCTCTGCTCACACCATCTCATGGGTGTATACACAC CTGCCTCTGCTCACACCATCTCATGGGTGTATACACACCTGCCTCTGCTG ACACCATCTCATGGGTGTATACACACCTGCCTCTGCTGACACT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EXD3_chr9_137301896_137428162	137328580	A A	AGCTACAC others(564): Show AGCTACACGGGGCTACACGGGACTACACGGGACTACACGGGGCTACACGG GGCTACACGGGACTACACGGGGCTACACGGGACTACACAGGGTCACACGG GACTACACGGGGCTACACGGGGCTACACGGGACTACACGGGGCTACACGG GGCTACACGGGACTACACAGGGTCACACGGGACTACACGGGACTACACGG GGCTACACGGGGCTACACGGGGCTACACGGGAACTACACGGGAGCTACAC GGGACTACACGGGGCTACACGGGACTACACGGGGCTACACGGGGCTACAC GGGAGCTACACGGGACTACACGGGGCTACACGGGGCTACACGGGAGCTAC ACGGGGCTACACGGGGCTACACGGGAGCTACACGGGGCTACACGGGAGCT ACACGGGAGCTACACGGGGCTACACGGGGCTACACGGGACTACACGGGGC TACACGGGGCTACACGGGAGCTACACGGGGCTACACGGGGCTACACGGGG CTACACGGGAGCTACACGGGGCTACACGGGGCTACACGGGGCTACACGGG AGCTACACGGGAGCTACACGGG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0017 a0017	a0017c0030 a0017c0030	a0017c0030t0001 a0017c0030t0001	a0017c0030t0001g0015 a0017c0030t0001g0015	1	82	0.0122	571	c.199 others(590): Show c.1999-4438_1999-4437insCCCGTGTAGCTCCCGTGTAGCTCCCG TGTAGCCCCGTGTAGCCCCGTGTAGCCCCGTGTAGCTCCCGTGTAGCCCC GTGTAGCCCCGTGTAGCCCCGTGTAGCTCCCGTGTAGCCCCGTGTAGCCC CGTGTAGTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGCTCCCGTGTAGCT CCCGTGTAGCCCCGTGTAGCTCCCGTGTAGCCCCGTGTAGCCCCGTGTAG CTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCTCCCGTGT AGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGT AGCTCCCGTGTAGTTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGCCCCGT GTAGTCCCGTGTAGTCCCGTGTGACCCTGTGTAGTCCCGTGTAGCCCCGT GTAGCCCCGTGTAGTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGT GTGACCCTGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCCCCGT GTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTAGCCCCGTGTAGC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
GPR35_chr2_240620480_240638159	240625870	T T	TGGGGTGA others(564): Show TGGGGTGAGACTCTGATGGGGTCTCAGAGTGGGGTGAGGCTGTGATGGGT TCTCAGAGCAGGGTGAGGCTGTGATGGGGTCTCAGAGTGGGGTGAGGCTG TGATGGGGGTCTCAGAGTGGGGTGAGGCTGTGATGGGGGTCTCAGAGTGG GGTGAGGCTGTGACGGGGGTTCTCAGAGCGAGGTGAGGCTGTGACGGGGT CTCAGAGCGAGGTGAGGCTGTGATGGGGGTCTCAGAGTGGGGTGAAGCTC TGATGGGGTCTCAGAGCGGGGTGAGGCTGTGATGGGGTCTCAGAGTGGGG TGAGGCTGTGACGGGGGTTCTCAGAGTGAGGTGAGGCTGTGACGGGGTCT CAGAGCGAGGTGAGGCTGTGATGGGGGTCTCAGAGTGGGGTGAAGCTCTG ATGGGGTCTCAGAGCGGGGTGAGGCTGTGATGGGGTCTCAGAGTGGGGTG AGGCTGTGACGGGGGTTCTCAGAGCGAGGTGAGGCTGTGACGGGGTCTCA GAGCGAGGTGAGGCTGTGACGGGGTCTCAGAGTGGGGTGAGGCTGTGATG GGGGTCTCAGAGCGGGGTGAGG	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0057 a0001c0007t0003g0057	1	400	0.0025	571	c.-5+ others(584): Show c.-5+310_-5+311insACTCTGATGGGGTCTCAGAGTGGGGTGAGGCT GTGATGGGTTCTCAGAGCAGGGTGAGGCTGTGATGGGGTCTCAGAGTGGG GTGAGGCTGTGATGGGGGTCTCAGAGTGGGGTGAGGCTGTGATGGGGGTC TCAGAGTGGGGTGAGGCTGTGACGGGGGTTCTCAGAGCGAGGTGAGGCTG TGACGGGGTCTCAGAGCGAGGTGAGGCTGTGATGGGGGTCTCAGAGTGGG GTGAAGCTCTGATGGGGTCTCAGAGCGGGGTGAGGCTGTGATGGGGTCTC AGAGTGGGGTGAGGCTGTGACGGGGGTTCTCAGAGTGAGGTGAGGCTGTG ACGGGGTCTCAGAGCGAGGTGAGGCTGTGATGGGGGTCTCAGAGTGGGGT GAAGCTCTGATGGGGTCTCAGAGCGGGGTGAGGCTGTGATGGGGTCTCAG AGTGGGGTGAGGCTGTGACGGGGGTTCTCAGAGCGAGGTGAGGCTGTGAC GGGGTCTCAGAGCGAGGTGAGGCTGTGACGGGGTCTCAGAGTGGGGTGAG GCTGTGATGGGGGTCTCAGAGCGGGGTGAGGGGGGTGAG	GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRIK4_chr11_120506748_120993906	120876376	T T	TCACCACC others(564): Show TCACCACCACCACCATCATCATCATCACCACCACCACTATCACCACCATC ACACCACCACCACCATAATCACCATCACCACCACCACCACCACCATAATC ACCATCACCACCACCATCACCATGACCACCATCACCACCACCACCATAAT CACCATCACCACCACCACCATAATCACCACCACCACCACCATCATCATCA TCACCACCACCATCACCACCATCACACCACCACCACCACCACAATCACCA TCACCACCACCACCATAACCACCACCACCACCACCATAATCACCATCACC ACCACCACCACCACCATAACCACCACCACCACCATAATCACCATCACCAC CACCACCATCATCATCACCACCACCACCATCACCACCACCACCACCATCA TCATCACCACCACCACCACCATCACCACCACCACCACCATCATCACCATC ATCACCACCACTATCATCATCATCACCACCACCATCACCACCACCGCCAC CATCATCACCACCAGCACCACCAACACCATCATCACCACCACCACCATCA CCACCACCATCCCCATCATCAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0006 a0001c0012t0006	a0001c0012t0006g0065 a0001c0012t0006g0065	1	128	0.0078	571	c.116 others(590): Show c.1164+1147_1164+1148insTCATCATCATCACCACCACCACTATC ACCACCATCACACCACCACCACCATAATCACCATCACCACCACCACCACC ACCATAATCACCATCACCACCACCATCACCATGACCACCATCACCACCAC CACCATAATCACCATCACCACCACCACCATAATCACCACCACCACCACCA TCATCATCATCACCACCACCATCACCACCATCACACCACCACCACCACCA CAATCACCATCACCACCACCACCATAACCACCACCACCACCACCATAATC ACCATCACCACCACCACCACCACCATAACCACCACCACCACCATAATCAC CATCACCACCACCACCATCATCATCACCACCACCACCATCACCACCACCA CCACCATCATCATCACCACCACCACCACCATCACCACCACCACCACCATC ATCACCATCATCACCACCACTATCATCATCATCACCACCACCATCACCAC CACCGCCACCATCATCACCACCAGCACCACCAACACCATCATCACCACCA CCACCATCACCACCACCATCCCCATCATCACCACCACCACCACCA	GRIK4	ENSG00000149403.13	transcript	ENST00000527524.8	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
GTPBP6_chrX_299759_323796	321751	C C	CAAAAAAA others(564): Show CAAAAAAAAAAAAAAAGAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTG GGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTG AGCCCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATC TACAAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTGCCTGTG GTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAG TTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAA AAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTACCTGTGGTCCCAGCT GCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACC AGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAAA AGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGA GGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGCATGGGCAATAT GGTAAGACCCCATTATCTACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0001 a0008c0009t0001g0001	1	155	0.0065	571	c.-29 others(582): Show c.-2965_-2964insTTGTAGATAATGGGGTCTTACCATATTGCCCATG CTGGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGA GCAGCTGGGACCACAGGCACCCACCACCACGCCCGGCTTTTTTTTTTTTT TTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAACTC CTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCAC AGGTACCCACCACCACGCCCGGCTTTTCTTTTTTTTTTTTTTTTTGTAGA TAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTGGGCTCA AGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCA CCACCACGCCCGGCTTTTCTTTTTTTTTTTTTTTTGTAGATAATGGGGTC TTACCATATTGCCCATGCTGGTGTCAAACTCCTGGGCTCAAGCAATCCTC CCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACGCC CGGCTAATTTTTCTTTTCTTTCTTTTTTTTTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		2956		chrX	TogoVar
GTPBP6_chrX_299759_323796	321755	A A	AAAAAAAA others(564): Show AAAAAAAAAAAAGAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGTG CCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCC CAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACA AAAAAAGAAAAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTC GGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGCA TGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAGAAAAGA AAAGAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCT CGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGC ATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAAAAGA AAAGCCGGGCGTGGTGGTGGGTACCTGTGGTCCCAGCTGCTCGGGACGCT GAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGCATGGGCAAT ATGGTAAGACCCCATTATCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	155	0.0065	571	c.-29 others(582): Show c.-2969_-2968insGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGTACCCACCACCACGCCCGGCTTTTCTTTTTTTTTT TTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAA CTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGAC CACAGGCACCCACCACCACGCCCGGCTAATTTTTCTTTTCTTTTCTTTTT TTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAA ACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGA CCACAGGCACCCACCACCACGCCCGGCTTTTCTTTTTTTGTAGATAATGG GGTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTGGGCTCAAGCAAT CCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCA CGCCCGGCTAATTTTTCTTTTCTTTCTTTTTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		2960		chrX	TogoVar
IFNAR1_chr21_33319970_33364864	33323136	T T	TATATATA others(564): Show TATATATATGGAATATATACGTATGGAATATATATATGGAATATATACGT ATGGAATATATATATGGAATATATACGTATGGAATATATATATATGGAAT ATACGTATGGAATATATATATATGGAATATACGTATGGAATATATATATA TGGAATATACGTATGGAATATATATATATGGAATATATATGTATGGAATA TATATATGGAATATATATGTATGGAATATATATATGGAATATATATGTAT GGAATATATATGTATGGAATATATATGTATGGAATATATGTATGGAATAT ATATGTATGGAATATATATATGGAATATATATGTATGGAATATATATATG GAATATATATATGGAATATATATGTATGGAATATATATATGGAATATATA TGTATGGAATATACATATGGAATATATATGTATGGAATATATATATATGG AATATATGTATGGAATATATATATGGAATATATGTATGGAATATATATAT ATGGAATATATGTATGGAATATATATATATGGAATATATGTATGGAATAT ATATATGGAATATATGTATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0201 a0002c0002t0002g0201	1	323	0.0031	571	c.-19 others(582): Show c.-1920_-1919insATATATATGGAATATATACGTATGGAATATATAT ATGGAATATATACGTATGGAATATATATATGGAATATATACGTATGGAAT ATATATATATGGAATATACGTATGGAATATATATATATGGAATATACGTA TGGAATATATATATATGGAATATACGTATGGAATATATATATATGGAATA TATATGTATGGAATATATATATGGAATATATATGTATGGAATATATATAT GGAATATATATGTATGGAATATATATGTATGGAATATATATGTATGGAAT ATATGTATGGAATATATATGTATGGAATATATATATGGAATATATATGTA TGGAATATATATATGGAATATATATATGGAATATATATGTATGGAATATA TATATGGAATATATATGTATGGAATATACATATGGAATATATATGTATGG AATATATATATATGGAATATATGTATGGAATATATATATGGAATATATGT ATGGAATATATATATATGGAATATATGTATGGAATATATATATATGGAAT ATATGTATGGAATATATATATGGAATATATGTATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1833		chr21	TogoVar
IGSF9B_chr11_133891438_133961968	133932577	G G	GACAGACA others(564): Show GACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAG GGAAGCCAGGTGGGAAAGCAGACAGACAGACAGACACAGGGAAGCCAGGT GGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGA CAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAG ACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACACAGGGAAGCCAG GTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCA GACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGAC ACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCC AGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAG CAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGAGAC AGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGA AGCCAGGTGGGAGAGCAGACAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp2 HG00733.hp2 others(4): Show HG00558.hp2 HG00673.hp2 HG00733.hp2 HG01975.hp1 NA18945.hp1 NA18970.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0043 a0001c0002t0119 a0001c0002t0002 a0001c0002t0043 a0001c0002t0119	a0001c0002t0002g0076 a0001c0002t0002g0079 a0001c0002t0002g0080 others(4): Show a0001c0002t0002g0076 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0085 a0001c0002t0043g0077 a0001c0002t0119g0078	7	362	0.0193	571	c.968 others(586): Show c.968-365_968-364insATGTCTGCTCTCCCACCTGGCTTCCCTGTG TCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTCTGT CTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCA CCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCC TGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCT GTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGCTCTCC CACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTC CCTGTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGT CTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCT CCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCT TCCCTGTGTCTGTCTGTCTGTCTGCTTTCCCACCTGGCTTCCCTGTGTCT GTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGT	IGSF9B	ENSG00000080854.16	transcript	ENST00000533871.8	protein_coding	7/19			chr11	TogoVar
IGSF9B_chr11_133891438_133961968	133932577	G G	GACAGACA others(564): Show GACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAG GGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGT GGGAGAGCAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGA CAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACAC AGGGAAGCCAGGTGGGAGAGCAGACAGACAGACACAGGGAAGCCAGGTGG GAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACA GACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGAC ACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCC AGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAG CAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGAGAC AGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGA AGCCAGGTGGGAGAGCAGACAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01496.hp1 HG02683.hp2 others(2): Show HG00323.hp2 HG01496.hp1 HG02683.hp2 HG02735.hp2 HG03540.hp2	a0001 a0001	a0001c0004 a0001c0010 a0001c0004 a0001c0010	a0001c0004t0112 a0001c0004t0117 a0001c0010t0010 a0001c0004t0112 a0001c0004t0117 a0001c0010t0010	a0001c0004t0112g0221 a0001c0004t0117g0197 a0001c0010t0010g0020 others(2): Show a0001c0004t0112g0221 a0001c0004t0117g0197 a0001c0010t0010g0020 a0001c0010t0010g0216 a0001c0010t0010g0217	5	362	0.0138	571	c.968 others(586): Show c.968-365_968-364insATGTCTGCTCTCCCACCTGGCTTCCCTGTG TCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTCTGT CTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCA CCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCC TGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCT GTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCT CTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGG CTTCCCTGTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGT CTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTG CTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGCTCTCCCACCTGGCT TCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCT GTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGT	IGSF9B	ENSG00000080854.16	transcript	ENST00000533871.8	protein_coding	7/19			chr11	TogoVar
IGSF9B_chr11_133891438_133961968	133932577	G G	GACAGACA others(564): Show GACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAG GGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGT GGGAGAGCAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGA CAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACAC AGGGAAGCCAGGTGGGAGAGCAGACAGACAGACACAGGGAAGCCAGGTGG GAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACA GACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGAC ACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCC AGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAG CAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGAGAC AGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACGGACAGACACAGGGA AGCCAGGTGGGAGAGCAGACAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02886.hp2 HG02622.hp1 HG02886.hp2	a0001 a0001	a0001c0041 a0001c0042 a0001c0041 a0001c0042	a0001c0041t0115 a0001c0042t0122 a0001c0041t0115 a0001c0042t0122	a0001c0041t0115g0287 a0001c0042t0122g0195 a0001c0041t0115g0287 a0001c0042t0122g0195	2	362	0.0055	571	c.968 others(586): Show c.968-365_968-364insATGTCTGCTCTCCCACCTGGCTTCCCTGTG TCTGTCCGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTCTGT CTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCA CCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCC TGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCT GTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCT CTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGG CTTCCCTGTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGT CTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTG CTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGCTCTCCCACCTGGCT TCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCT GTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGT	IGSF9B	ENSG00000080854.16	transcript	ENST00000533871.8	protein_coding	7/19			chr11	TogoVar
IGSF9B_chr11_133891438_133961968	133932577	G G	GACAGACA others(564): Show GACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAG GGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGT GGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGA CAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAG ACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACACAGGGAAGCCAG GTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCA GACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGAC ACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCC AGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAG CAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGAGAC AGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGA AGCCAGGTGGGAGAGCAGACAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(65): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00621.hp1 HG00642.hp1 HG01070.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02109.hp1 HG02148.hp1 HG02155.hp2 HG02300.hp1 HG02523.hp2 HG02559.hp1 HG02717.hp2 HG02895.hp1 HG02970.hp2 HG02976.hp2 HG03492.hp2 HG03688.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG06807.hp2 NA18747.hp2 NA18945.hp2 NA18952.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18971.hp2 NA18973.hp2 NA18977.hp2 NA18993.hp1 NA18998.hp1 NA18998.hp2 NA19003.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19060.hp1 NA19072.hp1 NA19074.hp2 NA19088.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0002 a0001c0004 a0001c0005 others(4): Show a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0031 a0005c0023 a0006c0015	a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 others(36): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0002t0015 a0001c0002t0018 a0001c0002t0020 a0001c0002t0022 a0001c0002t0026 a0001c0002t0034 a0001c0002t0035 a0001c0002t0036 a0001c0002t0037 a0001c0002t0046 a0001c0002t0062 a0001c0002t0063 a0001c0002t0065 a0001c0002t0070 a0001c0002t0074 a0001c0002t0077 a0001c0002t0078 a0001c0002t0092 a0001c0002t0102 a0001c0004t0068 a0001c0005t0009 a0001c0005t0010 a0001c0005t0021 a0001c0005t0061 a0001c0005t0064 a0001c0005t0069 a0001c0005t0071 a0001c0006t0032 a0001c0031t0003 a0005c0023t0058 a0006c0015t0047	a0001c0002t0001g0245 a0001c0002t0003g0154 a0001c0002t0004g0153 others(62): Show a0001c0002t0001g0245 a0001c0002t0003g0154 a0001c0002t0004g0153 a0001c0002t0005g0053 a0001c0002t0005g0104 a0001c0002t0005g0110 a0001c0002t0005g0238 a0001c0002t0005g0302 a0001c0002t0005g0321 a0001c0002t0005g0335 a0001c0002t0006g0244 a0001c0002t0006g0251 a0001c0002t0006g0252 a0001c0002t0006g0253 a0001c0002t0006g0254 a0001c0002t0006g0255 a0001c0002t0006g0257 a0001c0002t0010g0039 a0001c0002t0010g0066 a0001c0002t0011g0246 a0001c0002t0012g0063 a0001c0002t0012g0064 a0001c0002t0012g0065 a0001c0002t0015g0241 a0001c0002t0015g0338 a0001c0002t0015g0339 a0001c0002t0018g0054 a0001c0002t0018g0060 a0001c0002t0018g0062 a0001c0002t0018g0074 a0001c0002t0020g0248 a0001c0002t0020g0249 a0001c0002t0020g0250 a0001c0002t0022g0006 a0001c0002t0022g0057 a0001c0002t0026g0243 a0001c0002t0034g0016 a0001c0002t0035g0055 a0001c0002t0035g0058 a0001c0002t0036g0167 a0001c0002t0036g0168 a0001c0002t0037g0019 a0001c0002t0046g0263 a0001c0002t0062g0337 a0001c0002t0063g0056 a0001c0002t0065g0072 a0001c0002t0070g0059 a0001c0002t0074g0111 a0001c0002t0077g0155 a0001c0002t0078g0061 a0001c0002t0092g0069 a0001c0002t0102g0258 a0001c0004t0068g0239 a0001c0005t0009g0261 a0001c0005t0010g0046 a0001c0005t0021g0262 a0001c0005t0061g0298 a0001c0005t0064g0260 a0001c0005t0069g0042 a0001c0005t0071g0033 a0001c0006t0032g0294 a0001c0031t0003g0279 a0005c0023t0058g0293 a0006c0015t0047g0256 a0006c0015t0047g0259	68	362	0.1879	571	c.968 others(586): Show c.968-365_968-364insATGTCTGCTCTCCCACCTGGCTTCCCTGTG TCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTCTGT CTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCA CCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCC TGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCT GTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGCTCTCC CACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTC CCTGTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGT CTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCT CCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCT TCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCT GTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGT	IGSF9B	ENSG00000080854.16	transcript	ENST00000533871.8	protein_coding	7/19			chr11	TogoVar
IGSF9B_chr11_133891438_133961968	133932577	G G	GACAGACA others(564): Show GACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAG GGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGT GGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGA CAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAG ACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACACAGGGAAGCCAG GTGGTAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCA GACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGAC ACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCC AGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAG CAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGAGAC AGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGA AGCCAGGTGGGAGAGCAGACAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0021 a0001c0005t0021	a0001c0005t0021g0038 a0001c0005t0021g0038	1	362	0.0028	571	c.968 others(586): Show c.968-365_968-364insATGTCTGCTCTCCCACCTGGCTTCCCTGTG TCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTCTGT CTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCA CCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCC TGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCT GTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGCTCTCC CACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTACCACCTGGCTTC CCTGTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGT CTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCT CCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCT TCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCT GTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGT	IGSF9B	ENSG00000080854.16	transcript	ENST00000533871.8	protein_coding	7/19			chr11	TogoVar
IGSF9B_chr11_133891438_133961968	133932577	G G	GACAGACA others(564): Show GACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAG GGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGT GGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGA CAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAG ATACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACACAGGGAAGCCAG GTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCA GACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGAC ACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCC AGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAG CAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGAGAC AGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGA AGCCAGGTGGGAGAGCAGACAT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0219 a0001c0002t0005g0219	1	362	0.0028	571	c.968 others(586): Show c.968-365_968-364insATGTCTGCTCTCCCACCTGGCTTCCCTGTG TCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTCTGT CTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCA CCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCC TGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCT GTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGCTCTCC CACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTC CCTGTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTATCTGTCTGT CTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCT CCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCT TCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCT GTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGT	IGSF9B	ENSG00000080854.16	transcript	ENST00000533871.8	protein_coding	7/19			chr11	TogoVar
IGSF9B_chr11_133891438_133961968	133932683	G G	GCAGACAG others(564): Show GCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACA GACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAG GGAAGCCAGGTGGGAGAGCAGACAGACAGACACAGGGAAGCCAGGTGGGA GAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGA CAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGG AAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGG GAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACA GACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGAGACAGACAC AGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAG GTGGGAGAGCAGACATACAGACACAGGGAAGCCAGGTGGGAGAGCAGACA GACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGAC ACAGGGAAGCCAGGTGGGAGAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0130 a0001c0004t0130	a0001c0004t0130g0286 a0001c0004t0130g0286	1	362	0.0028	571	c.968 others(586): Show c.968-471_968-470insCTCTCCCACCTGGCTTCCCTGTGTCTGTCT GTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCT CTCCCACCTGGCTTCCCTGTGTCTGTATGTCTGCTCTCCCACCTGGCTTC CCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGT CTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCT CTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGG CTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGT CTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTG CTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCT GGCTTCCCTGTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCT GTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTC TGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTG	IGSF9B	ENSG00000080854.16	transcript	ENST00000533871.8	protein_coding	7/19			chr11	TogoVar
IGSF9B_chr11_133891438_133961968	133932803	G G	GACAGACA others(564): Show GACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAG GGAAGCCAGGTGGGAGAGCAGACAGACAGACACAGGGAAGCCAGGTGGGA GAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGA CAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACAC AGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAG GTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCA GACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGAC AGACACAGGGAAGCCAGGTGGGAGAGCAGACATACAGACACAGGGAAGCC AGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAG CAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAG ACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAG CCAGGTGGGAGAGCAGACAGAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0109 a0001c0020t0109	a0001c0020t0109g0281 a0001c0020t0109g0281	1	362	0.0028	571	c.968 others(586): Show c.968-591_968-590insGTCTGTCTGCTCTCCCACCTGGCTTCCCTG TGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGT CTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCA CCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCC TGTGTCTGTATGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCT GTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCC CACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTC CCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGT CTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTG CTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCT GGCTTCCCTGTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCT GTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGT	IGSF9B	ENSG00000080854.16	transcript	ENST00000533871.8	protein_coding	7/19			chr11	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(564): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCCTCCTCCCCC CACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCT CCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCC ACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCC CCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCT CCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCT CCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCC CTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCC TCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCCTCCCCCCTCCTCCCTGT CTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTC CCCCACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0217	1	252	0.0040	571	c.10- others(588): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCC CACCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTC CTCCCCCTCCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCC CTCCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCT CCTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTC CTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCT CCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCC TCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCCTCC CCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCC TCCCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(564): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCC ACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTC CCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCA CCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCC CCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTC CTCCTCCCCATTCTGCTCTCCTCCTCCCCCCCCTCCTCCCCCCTCCTCCT CCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCC CTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCC TCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCCTCCCCCCTCCTCCCTGT CTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTC CCCCACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0140 a0001c0001t0004g0140	1	252	0.0040	571	c.10- others(588): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCC ACCTCCTCCTCCTCCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTC CTCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCC TCCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTC CTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCCCCTCC TCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCT CCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCC TCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCCTCC CCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCC TCCCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITPRID1_chr7_31509090_31661504	31657166	T T	TATATTAT others(564): Show TATATTATATATATGATATATAATATATATATCATATATAAATACACATA TAAATATGTATGTGTATATATATCTATGTGCAGGCACACACATGCACACA CACTTAAAAAACCTACTGGTTCCATTTCCCTGGAAAACTCTGACTAATAC AGTAAGGAATAGCTAAGATATGGTGAGACTATCCTACAAAAATACATACT GAGTCCTGCCGTTTATTATTTATAAGAAGCAACTGAGCTCTGGGGTTAAA TTCAGGATTTGGGGCTTAAATCCAACTCCACTACTTATTATTTGTCTTGG ATAAACTATGTAACCTCCCTAAGCCTCAGTGTCATCATCTGTAATTTAAC GGAGTTAATGCATACGGAGCCCTTTACAGCAAGACTGGAACATGGTTAGT GCTTAGCAAATGGTAGTACTATGATGGTTAGGATGGTGATGATACTAACA AGAGTAGTAACAACTTATTGAATGTCTACCTACAGGCAAGGGACACGGCT AAGTGCCTTATTTGCATTATCACTTATCTTCGCAACAATCTTGAAAAGTG GGAATTAATCTACACACACATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG02486.hp1 others(6): Show HG01891.hp2 HG02257.hp1 HG02486.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG03195.hp2 NA19030.hp2	a0007 a0013 a0019 others(1): Show a0007 a0013 a0019 a0025	a0007c0013 a0013c0026 a0013c0045 others(2): Show a0007c0013 a0013c0026 a0013c0045 a0019c0040 a0025c0032	a0007c0013t0008 a0013c0026t0008 a0013c0045t0008 others(2): Show a0007c0013t0008 a0013c0026t0008 a0013c0045t0008 a0019c0040t0017 a0025c0032t0008	a0007c0013t0008g0250 a0007c0013t0008g0251 a0007c0013t0008g0258 others(6): Show a0007c0013t0008g0250 a0007c0013t0008g0251 a0007c0013t0008g0258 a0007c0013t0008g0265 a0007c0013t0008g0266 a0013c0026t0008g0164 a0013c0045t0008g0298 a0019c0040t0017g0089 a0025c0032t0008g0268	9	312	0.0289	571	c.43 others(582): Show c.4337_*4338insATATTATATATATGATATATAATATATATATCAT ATATAAATACACATATAAATATGTATGTGTATATATATCTATGTGCAGGC ACACACATGCACACACACTTAAAAAACCTACTGGTTCCATTTCCCTGGAA AACTCTGACTAATACAGTAAGGAATAGCTAAGATATGGTGAGACTATCCT ACAAAAATACATACTGAGTCCTGCCGTTTATTATTTATAAGAAGCAACTG AGCTCTGGGGTTAAATTCAGGATTTGGGGCTTAAATCCAACTCCACTACT TATTATTTGTCTTGGATAAACTATGTAACCTCCCTAAGCCTCAGTGTCAT CATCTGTAATTTAACGGAGTTAATGCATACGGAGCCCTTTACAGCAAGAC TGGAACATGGTTAGTGCTTAGCAAATGGTAGTACTATGATGGTTAGGATG GTGATGATACTAACAAGAGTAGTAACAACTTATTGAATGTCTACCTACAG GCAAGGGACACGGCTAAGTGCCTTATTTGCATTATCACTTATCTTCGCAA CAATCTTGAAAAGTGGGAATTAATCTACACACACATA	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding		663		chr7	TogoVar
LRRC14_chr8_144512992_144530172	144513791	C C	CGTGGGGA others(564): Show CGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGT GAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	414	0.0024	571	c.-43 others(582): Show c.-4362_-4361insGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCC TGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGTGAGGAGGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTG GGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4200		chr8	TogoVar
LY75_chr2_159798355_159909756	159874319	G G	GTTTTGTA others(564): Show GTTTTGTAAATATATATAAATATATATATGTTTTGTAAATATATATAAAT ATATATGTTTTGTAAATATATATAAATATATATGTTTTGTAAATATATAT AAATATATATGTTTTGTAAATATATATAAATATATATATGTTTTGTAAAT ATATATATATTTTGTAAATATATATTGTAAATATATATAAATATATATTT TGTGAATTATATATATATTGTAAATTATATATATATTTTGTAAATATATA TAGTAAATATATATATTTTGTAAATATGTATATATATTTTGTAAATATAT ATATTTTGTAAATATGTATATATATTTTGTAAATATATACATTTTGTAAA TATATAAATGTATACAATTTGTAAATATATAAAAATATATACATTTTGTA AATATATAAAAATATATGTTGTAAATATATAAAAATATATATATTTTGTA AATATATAAATATATATATTTTGTAAATATATATATATTTTGTAAATATA TATAAATATATACATATTTTGTAAATATATAAATATATACATATTTTGTA AATCTATATAAATATATACATA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0027 a0027	a0027c0039 a0027c0039	a0027c0039t0001 a0027c0039t0001	a0027c0039t0001g0008 a0027c0039t0001g0008	1	330	0.0030	571	c.197 others(590): Show c.1974+1124_1974+1125insTATGTATATATTTATATAGATTTACA AAATATGTATATATTTATATATTTACAAAATATGTATATATTTATATATA TTTACAAAATATATATATATTTACAAAATATATATATTTATATATTTACA AAATATATATATTTTTATATATTTACAACATATATTTTTATATATTTACA AAATGTATATATTTTTATATATTTACAAATTGTATACATTTATATATTTA CAAAATGTATATATTTACAAAATATATATACATATTTACAAAATATATAT ATTTACAAAATATATATACATATTTACAAAATATATATATTTACTATATA TATTTACAAAATATATATATAATTTACAATATATATATAATTCACAAAAT ATATATTTATATATATTTACAATATATATTTACAAAATATATATATATTT ACAAAACATATATATATTTATATATATTTACAAAACATATATATTTATAT ATATTTACAAAACATATATATTTATATATATTTACAAAACATATATATTT ATATATATTTACAAAACATATATATATTTATATATATTTACAAAA	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
LY75_chr2_159798355_159909756	159874319	G G	GTTTTGTA others(564): Show GTTTTGTAAATATATATAAATATATATATGTTTTGTAAATATATATAAAT ATATATGTTTTGTAAATATATATAAATATATATGTTTTGTAAATATATAT AAATATATATGTTTTGTAAATATATATAAATATATATATGTTTTGTAAAT ATATATATATTTTGTAAATATATATTGTAAATATATATAAATATATATTT TGTGAATTATATATATATTGTAAATTATATATATATTTTGTAAATATATA TAGTAAATATATATATTTTGTAAATATGTATATATATTTTGTAAATATAT ATATTTTGTAAATATGTATATATATTTTGTAAATATATACATTTTGTAAA TATATAAATGTATACATTTTGTAAATATATAAAAATATATACATTTTGTA AATATATAAAAATATATGTTGTAAATATATAAAAATATATATATTTTGTA AATATATAAATATATATATTTTGTAAATATATATATATTTTGTAAATATA TATAAATATATACATATTTTGTAAATATATAAATATATACATATTTTGTA AATCTATATAAATATATACATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00408.hp1 others(54): Show HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00597.hp2 HG00741.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01258.hp2 HG01433.hp1 HG01516.hp2 HG01934.hp1 HG01975.hp1 HG02004.hp2 HG02080.hp2 HG02135.hp2 HG02155.hp1 HG02273.hp2 HG02293.hp2 HG02683.hp1 HG02717.hp1 HG02965.hp1 HG02970.hp1 HG03130.hp1 HG03710.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 NA18941.hp2 NA18942.hp1 NA18948.hp1 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18970.hp1 NA18974.hp1 NA18974.hp2 NA18985.hp2 NA18987.hp2 NA18998.hp1 NA19003.hp1 NA19005.hp2 NA19011.hp1 NA19060.hp1 NA19064.hp2 NA19066.hp2 NA19070.hp1 NA19078.hp1 NA19081.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA20752.hp2	a0003 a0006 a0012 others(6): Show a0003 a0006 a0012 a0022 a0023 a0034 a0035 a0036 a0037	a0003c0001 a0003c0060 a0006c0004 others(8): Show a0003c0001 a0003c0060 a0006c0004 a0006c0063 a0012c0016 a0022c0031 a0023c0030 a0034c0064 a0035c0061 a0036c0062 a0037c0046	a0003c0001t0001 a0003c0001t0002 a0003c0001t0003 others(14): Show a0003c0001t0001 a0003c0001t0002 a0003c0001t0003 a0003c0001t0004 a0003c0001t0005 a0003c0060t0005 a0006c0004t0001 a0006c0004t0012 a0006c0063t0001 a0012c0016t0001 a0012c0016t0002 a0022c0031t0001 a0023c0030t0002 a0034c0064t0002 a0035c0061t0002 a0036c0062t0002 a0037c0046t0001	a0003c0001t0001g0006 a0003c0001t0001g0174 a0003c0001t0001g0185 others(50): Show a0003c0001t0001g0006 a0003c0001t0001g0174 a0003c0001t0001g0185 a0003c0001t0002g0206 a0003c0001t0003g0170 a0003c0001t0004g0001 a0003c0001t0004g0158 a0003c0001t0004g0165 a0003c0001t0004g0167 a0003c0001t0004g0168 a0003c0001t0004g0171 a0003c0001t0004g0172 a0003c0001t0004g0173 a0003c0001t0004g0175 a0003c0001t0004g0176 a0003c0001t0004g0177 a0003c0001t0004g0178 a0003c0001t0004g0179 a0003c0001t0004g0180 a0003c0001t0004g0181 a0003c0001t0004g0183 a0003c0001t0004g0184 a0003c0001t0004g0186 a0003c0001t0004g0205 a0003c0001t0004g0207 a0003c0001t0004g0208 a0003c0001t0004g0209 a0003c0001t0004g0210 a0003c0001t0004g0212 a0003c0001t0004g0213 a0003c0001t0005g0159 a0003c0001t0005g0161 a0003c0060t0005g0160 a0006c0004t0001g0157 a0006c0004t0001g0164 a0006c0004t0001g0194 a0006c0004t0001g0196 a0006c0004t0001g0199 a0006c0004t0001g0211 a0006c0004t0001g0214 a0006c0004t0001g0313 a0006c0004t0012g0166 a0006c0063t0001g0198 a0012c0016t0001g0311 a0012c0016t0001g0316 a0012c0016t0002g0310 a0022c0031t0001g0127 a0023c0030t0002g0162 a0023c0030t0002g0197 a0034c0064t0002g0045 a0035c0061t0002g0182 a0036c0062t0002g0312 a0037c0046t0001g0223	57	330	0.1727	571	c.197 others(590): Show c.1974+1124_1974+1125insTATGTATATATTTATATAGATTTACA AAATATGTATATATTTATATATTTACAAAATATGTATATATTTATATATA TTTACAAAATATATATATATTTACAAAATATATATATTTATATATTTACA AAATATATATATTTTTATATATTTACAACATATATTTTTATATATTTACA AAATGTATATATTTTTATATATTTACAAAATGTATACATTTATATATTTA CAAAATGTATATATTTACAAAATATATATACATATTTACAAAATATATAT ATTTACAAAATATATATACATATTTACAAAATATATATATTTACTATATA TATTTACAAAATATATATATAATTTACAATATATATATAATTCACAAAAT ATATATTTATATATATTTACAATATATATTTACAAAATATATATATATTT ACAAAACATATATATATTTATATATATTTACAAAACATATATATTTATAT ATATTTACAAAACATATATATTTATATATATTTACAAAACATATATATTT ATATATATTTACAAAACATATATATATTTATATATATTTACAAAA	LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	12/34			chr2	TogoVar
MFSD3_chr8_144504070_144516213	144513834	A A	GAGGGGTC others(564): Show GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGT GGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGG TGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCG GCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGA GGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGG TGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCG GCGTGGGCGGTGGGGAGTGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	571	c.26 others(581): Show c.2670delAinsGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGT	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2621		chr8	TogoVar
MMD2_chr7_4900998_4964187	4960054	G G	GTGGGAAG others(564): Show GTGGGAAGTGGGGGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGAGGGAG TGGGAAGTGGGGGTGTTGGGGGGGGGAGTGAGGGGGTTAGTGGGAAGAGA GGGACTTGGAGGTTGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTGGG GGACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGGGGGGAGTGAG GGGGTTAGTGGGAAGAGAGGGACTTGGAGGTTGGGGGAGTGGGAAGTGGG GGTGTTGGAGGGAGTGGGGGACCTGGGGGTGGGGGGAGTGGGAAGTGGGG GTGTTGGGGGGGAGTGAGGGGGTTAGTGGGAAGAGAGGGACTTGGAGGTT GGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGTGGGGGACCTGGGGGTGG GGGGAGTGGGAAGTGGGGGTGTTGGGGGGGAGTGAGGGGGTTAGTGGGAA GAGAGGGACTTGGAGGTTGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAG TGGGGGACCTGGGGGTGGGGGGAGTGGGAAGTGGGGGTGTTGGAGGGAGT GGGGGACCTGGGGGTGGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	382	0.0026	571	c.-10 others(582): Show c.-1038_-1037insTCCCCCCACCCCCAGGTCCCCCACTCCCTCCAAC ACCCCCACTTCCCACTCCCCCCACCCCCAGGTCCCCCACTCCCTCCAACA CCCCCACTTCCCACTCCCCCAACCTCCAAGTCCCTCTCTTCCCACTAACC CCCTCACTCCCCCCCAACACCCCCACTTCCCACTCCCCCCACCCCCAGGT CCCCCACTCCCTCCAACACCCCCACTTCCCACTCCCCCAACCTCCAAGTC CCTCTCTTCCCACTAACCCCCTCACTCCCCCCCAACACCCCCACTTCCCA CTCCCCCCACCCCCAGGTCCCCCACTCCCTCCAACACCCCCACTTCCCAC TCCCCCAACCTCCAAGTCCCTCTCTTCCCACTAACCCCCTCACTCCCCCC CAACACCCCCACTTCCCACTCCCCCCACCCCCAGGTCCCCCACTCCCTCC AACACCCCCACTTCCCACTCCCCCAACCTCCAAGTCCCTCTCTTCCCACT AACCCCCTCACTCCCCCCCCCAACACCCCCACTTCCCACTCCCTCCACCC CCAGGTCCCCCACTCCCTCCAACACCCCCACTTCCCA	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding		868		chr7	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(564): Show TCTGCTCTCCCCTCCCCTCTTCCCTCCCCTCTCCCCTCCCCCTCCCCCCT CCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTC CCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTC CCGTCTCCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCTCTCCCCTCCTCCCCTCCTCCCCTCCTCCCC TCCCCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCC TCCCCTCCTCCCCTCCCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCTCCCCTCCTCCCCTCCCCTCTTCCCCTCCTCCCCTCCTCCCCTCG TCCCCTCCCCTCCTCCCCTCGTCCCCTCCCCTCCTCCCCTCCTCCCCTCC TCCCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCGTCCCCTCC CCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0001 a0002c0004t0001g0001	1	140	0.0071	571	c.114 others(590): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCTTCCCTCCCC TCTCCCCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCT CTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCC TCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCTCCCCTCC TCCCCTCCTCCCCTCCTCCCCTCCCCCCCTCCTCCCCTCCCCTCCTCCCC TCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCTTCC CCTCCTCCCCTCCTCCCCTCGTCCCCTCCCCTCCTCCCCTCGTCCCCTCC CCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCC CCTCCTCCCCTCGTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
NME4_chr16_392199_405754	397716	G G	GTGAGGGA others(564): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG GTGGGGGTGGGGGTGGGGGGGC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0182 a0001c0002t0001g0182	1	356	0.0028	571	c.91+ others(584): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGT GGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGTGGGG GTGGGGGGGCTGAGGGAGTCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397716	G G	GTGAGGGA others(564): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGGTGGGGGTGGGGGGGC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0188 a0001c0002t0001g0188	1	356	0.0028	571	c.91+ others(584): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGG GTGGGGGGGCTGAGGGAGTCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397716	G G	GTGAGGGA others(564): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGC	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0267 a0001c0002t0001g0267	1	356	0.0028	571	c.91+ others(584): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGGCTGAGGGAGTCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOS3_chr7_150986017_151019588	150995594	C C	CCCCATCC others(564): Show CCCCATCCCACCCCTGCACCCCTCCCATCCCACCTCTAAACCCCTCCTCC CTCTCCCCCGTCCCACCCCTAAACCCCACCTCCCTGTCCCCCTCTAAACC CCTCCTCCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCCCTGTCCCCC TCTAAACCCCTCCTCCCTCTCCCCATCCCACCCCTGCACCCTTCCTCCCT CTCCCCATCCCACCCCTGCACCCCTTTCCCCCCTCCCACCCCTGCACCCT TCCTCCCTCTCCCCCATCCCACCCCTGCACCCCTCCCATCCCACCTCTAA ACCCCTCCTCCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCCCTGTCC CCCTCTAAACCCCTCCTCCCTCTCCCCATCCCACCCCTGCACCCTTCCTC CCTCTGCCCCCGTCCCACGCCTGTACTCCTCCTCCCTCTCCCCCGTCACA CCCCTGCACCCCTCCTCCCTCTCCCCATCCCATCCCTGCACCCCTCCTCC CTCTGCCCCCGTCCCACCCCTAAACCCCTCCTCCCTCTGCCCCACCCCAC CCTTGCACCCCTCCTCCCTCTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0116 a0002c0003t0001g0116	1	382	0.0026	571	c.270 others(586): Show c.270+283_270+284insATCCCACCCCTGCACCCCTCCCATCCCACC TCTAAACCCCTCCTCCCTCTCCCCCGTCCCACCCCTAAACCCCACCTCCC TGTCCCCCTCTAAACCCCTCCTCCCTCTCCCCCGTCCCACCCCTAAACCC CACCTCCCTGTCCCCCTCTAAACCCCTCCTCCCTCTCCCCATCCCACCCC TGCACCCTTCCTCCCTCTCCCCATCCCACCCCTGCACCCCTTTCCCCCCT CCCACCCCTGCACCCTTCCTCCCTCTCCCCCATCCCACCCCTGCACCCCT CCCATCCCACCTCTAAACCCCTCCTCCCTCTCCCCCGTCCCACCCCTAAA CCCCACCTCCCTGTCCCCCTCTAAACCCCTCCTCCCTCTCCCCATCCCAC CCCTGCACCCTTCCTCCCTCTGCCCCCGTCCCACGCCTGTACTCCTCCTC CCTCTCCCCCGTCACACCCCTGCACCCCTCCTCCCTCTCCCCATCCCATC CCTGCACCCCTCCTCCCTCTGCCCCCGTCCCACCCCTAAACCCCTCCTCC CTCTGCCCCACCCCACCCTTGCACCCCTCCTCCCTCTTCCC	NOS3	ENSG00000164867.11	transcript	ENST00000297494.8	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGAGG others(564): Show GGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAAT GAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCA ATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGG CAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCT CCCGGGGCAATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCC TCCCAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATC CCTCCCAGGGGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0249 a0001c0003t0001g0249	1	324	0.0031	571	c.140 others(588): Show c.140+8514_140+8515insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGAT CCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCC CCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACC CATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACC CATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACC CATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCAC CCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGC ACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(564): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATATATAGTTTAAAACTATATAGTTTATATATA GTTTTAAACTATATAGTTTATATATAGTTTAAAACTATATAGTTTATATA GTTTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGT TTAAAACTATATAGTTTATATAGTTTTAAACTATATAGTTTAAACTATAT AGTTTTAAACTATATAAACTATATAGTTTTAAACTAGTTTATATATAGTT TTAAACTAGTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTT ATGTAGTTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTAT GTAGTTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTTAAA CTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATA TAGTTTAAAACTATATAGTTTATGTAGTTTTAAACTAGTTTATATTTTTT TATATAGTTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01167.hp1 HG01891.hp1 others(13): Show HG00642.hp1 HG01167.hp1 HG01891.hp1 HG02145.hp1 HG02258.hp1 HG02486.hp2 HG02572.hp1 HG02622.hp1 HG02965.hp1 HG02976.hp1 HG03130.hp1 HG03225.hp2 HG03486.hp2 HG03516.hp2 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0008 a0001c0002 a0001c0003 a0001c0008	a0001c0002t0001 a0001c0003t0001 a0001c0008t0001 a0001c0002t0001 a0001c0003t0001 a0001c0008t0001	a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 others(13): Show a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0071 a0001c0003t0001g0006 a0001c0003t0001g0056 a0001c0003t0001g0066 a0001c0008t0001g0055	16	244	0.0656	571	c.342 others(590): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAGTTTA AAACTATATAGTTTAAAACTACATAAACTATATAGTTTAAAACTACATAA ACTATATAGTTTAAAACTACATAAACTATATAGTTTAAAACTACATAAAC TATATAGTTTAAAACTACATAAACTATATAGTTTAAACTAGTTTAAAACT ATATATAAACTAGTTTAAAACTATATAGTTTATATAGTTTAAAACTATAT AGTTTAAACTATATAGTTTAAAACTATATAAACTATATAGTTTTAAACTA TATAAACTATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTATA TAAACTATATAGTTTTAAACTATATATAAACTATATAGTTTAAAACTATA TATAAACTATATAGTTTTAAACTATATATAAACTATATAGTTTAAAACTA TATATAAACTATATAGTTTAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NTF3_chr12_5427108_5500299	5481483	G G	GCACATAC others(564): Show GCACATACAAACAGAATAACACCACACACACACCACAGACACAGAAATAA CACCACACACACATGCACATACACACACCACATACACACAGAATAACACC ACACACACATGCACACACACACAGAATAACACCACACACGCACACACACA CCACAGACACAGACATAACACCACACACACATGCACATACACACACCACA TACACACAGAATAACACCACACACACATGCACACACACACAGAATAACAC GATACACACATGCACATACACCACAGACACACACAGAATAGCGCGACACA CGTGCACACATAGACACACACCACACACACAGAATAACACCAGAAACATG CACACACAGACATACACACACCACACACGGAATAACACCACCCACACATG CGCACACACACAGAATAACACCACACACACGCGCATACACACACCACACA CAGAGTAACACACACGCACACACACAGATATACACCACACACAGAATACC ACCACACACACATGCACACATGCATACAGACATACATCACACACACAATA ACATAACACACATGCACACAGT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02258.hp2 HG01952.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0351 a0001c0001t0001g0352	2	370	0.0054	571	c.19- others(588): Show c.19-12707_19-12706insTACAAACAGAATAACACCACACACACAC CACAGACACAGAAATAACACCACACACACATGCACATACACACACCACAT ACACACAGAATAACACCACACACACATGCACACACACACAGAATAACACC ACACACGCACACACACACCACAGACACAGACATAACACCACACACACATG CACATACACACACCACATACACACAGAATAACACCACACACACATGCACA CACACACAGAATAACACGATACACACATGCACATACACCACAGACACACA CAGAATAGCGCGACACACGTGCACACATAGACACACACCACACACACAGA ATAACACCAGAAACATGCACACACAGACATACACACACCACACACGGAAT AACACCACCCACACATGCGCACACACACAGAATAACACCACACACACGCG CATACACACACCACACACAGAGTAACACACACGCACACACACAGATATAC ACCACACACAGAATACCACCACACACACATGCACACATGCATACAGACAT ACATCACACACACAATAACATAACACACATGCACACAGTCACA	NTF3	ENSG00000185652.12	transcript	ENST00000423158.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr12	TogoVar
OSGIN1_chr16_83948240_83971332	83950857	A A	ACACACGT others(564): Show ACACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATAC TGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACATAC TACCGGCACACGTACACACATGCACACATGAACACATGTGCACACGTACA CACACATGCACACATGAGCACATGTGCACACATGCACATACATACTGGCA CACACGTACATGCACACATGAGCACATGTGCACACATGCACATACATACT GGCACACGTACACACACGCACACATGAGCACATGTGCACACATGCACATA CATACTGGCACACACGTACACACATGCATACATGAGCACATGTGCACACA TGCACATACATACTGGCACACGTACACGCACACATGAGCACATGTGCACA CATGCCCATACACACTGGCACACACGTACACACACATGCACACATGAGCA CATGTGCACACATGCACATACACACTGGCACACACGTACACACACATGCA CACATGAGCACATGTGCACACATGCACATACATACCGGCACACGTACACA CATGCACACATGAACACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	350	0.0029	571	c.-25 others(582): Show c.-2546_-2545insCACACGTACATGCACACATGAGCACATGTGCACA CATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATGTG CACACATGCACATACTACCGGCACACGTACACACATGCACACATGAACAC ATGTGCACACGTACACACACATGCACACATGAGCACATGTGCACACATGC ACATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACAC ATGCACATACATACTGGCACACGTACACACACGCACACATGAGCACATGT GCACACATGCACATACATACTGGCACACACGTACACACATGCATACATGA GCACATGTGCACACATGCACATACATACTGGCACACGTACACGCACACAT GAGCACATGTGCACACATGCCCATACACACTGGCACACACGTACACACAC ATGCACACATGAGCACATGTGCACACATGCACATACACACTGGCACACAC GTACACACACATGCACACATGAGCACATGTGCACACATGCACATACATAC CGGCACACGTACACACATGCACACATGAACACATGTG	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2382		chr16	TogoVar
PDE10A_chr6_165322289_165668241	165619422	G G	GTGTAGGC others(564): Show GTGTAGGCTAGTGTAGGCTAGTGTAGTGTAGTAGTGTAGTCTAGTATAGT GTAGTATAGTCTAGTGTACTGTAGTGTAGTATAGTGTAGTCTAGTGTGGT GTGGTGTAGTGTAGTGTAGTCTAGTGTACTGTAGTGTAGTGCAGTGTAGT GTAGTACAGTCTAGTGTAGTCTAGTATAGTGTAGTCCAGTGTAGTGTAGT GTAGTCTAGTGTAGTCTAGTGTACTGTAGTGTAGTGTAGTGTAGTCTAGT GTACTGTAGTGTAGTGTAGTGTAGTCTAGTGTAGTCTAGTGTACTGTAGT GTAGTGTAGTCTAGTGTACTGTAGTGTAGTGCAGTGGTCTAGTGCAGTGT AGTCTAGTGTAGTACAGTCTAGTGTAGTCTAGTGTAGTGTAGTGTAGTCT AGTCTAGTGTAGTCTAGTGTAGTGTAGTCTAGTGTAGTCTAGTGTAGTGT AGTGTAGTCTAGTGTAGTCTAGTGTAGTCTAGTGTAGTGTAGTGTAGTCT AATGTAGTGTAGTGTAGTGTAGTCTAGCGTAGTGTACTGTAGTCTAGCGT AGTGTACTGTAGTCTAGTGTAC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	222	0.0045	571	c.865 others(590): Show c.865+42524_865+42525insGTACACTAGACTACAGTACACTACGC TAGACTACAGTACACTACGCTAGACTACACTACACTACACTACATTAGAC TACACTACACTACACTAGACTACACTAGACTACACTAGACTACACTACAC TACACTAGACTACACTAGACTACACTACACTAGACTACACTAGACTAGAC TACACTACACTACACTAGACTACACTAGACTGTACTACACTAGACTACAC TGCACTAGACCACTGCACTACACTACAGTACACTAGACTACACTACACTA CAGTACACTAGACTACACTAGACTACACTACACTACACTACAGTACACTA GACTACACTACACTACACTACAGTACACTAGACTACACTAGACTACACTA CACTACACTGGACTACACTATACTAGACTACACTAGACTGTACTACACTA CACTGCACTACACTACAGTACACTAGACTACACTACACTACACCACACCA CACTAGACTACACTATACTACACTACAGTACACTAGACTATACTACACTA TACTAGACTACACTACTACACTACACTAGCCTACACTAGCCTACA	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	1/21			chr6	TogoVar
PDXK_chr21_43714129_43767299	43741407	G G	GGGGGGCT others(564): Show GGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGG CTGGCGGGGGGCTGGCGGGGGGCTCGCCGGGGGCTCGCGGGGGGCTGGCG GGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGC TCGCGGGGGGCTCGCCGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCG GGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGG CTCGCGGGGGGCTCGCCGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCA GGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGG CTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCCGGGGGCTCGC GGGGCGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGG GGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCT CGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCG GGGGCCTCGCGGGGGGGCTCGC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0317 a0001c0001t0006g0318 a0001c0001t0006g0317 a0001c0001t0006g0318	2	358	0.0056	571	c.143 others(586): Show c.143-255_143-254insCTCGCGGGGGGCTCGCGGGGGGCTGGCGGG GGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCCGGGGGCTC GCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGG GGCTCGCGGGGGGCTCGCGGGGGGCTCGCCGGGGGCTCGCGGGGGGCTGG CGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGG GGGCTCGCGGGGGGCTCGCGGGGGGCTCGCCGGGGGCTCGCGGGGGGCTC GCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGG GGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCT CGCCGGGGGCTCGCGGGGCGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGG GGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGG CTCGCGGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCG CGGGGGGGCTCGCGGGGGCCTCGCGGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PHF2_chr9_93571584_93684587	93618890	T T	TGTGTTTC others(564): Show TGTGTTTCCATGTGTGTGTTTGCATATGTGGTATGTGTGATGTGTGTGTG CATGTGTCTGTTTTGTGTTTGCATGTGTGTTTTGTGTGTGTGCCTGGAGG TGTGGTGTGTGTATGTGTACCTGTGTGTCTGTGTGTGTAATGTGTGTGGC TGCGTGTGTGGTGTTTGTGTGTCTGCGTGTGTGTGGTGTGTGTTGTGTGT TTGCCCGTGTGGTGGGTGTGTCTGTGTCTGCATGTGTGTGGTGTGTGTGT CTGTATGTATGTTGTATATTTCTGTGTGCATGTGTGGTGTGTTTCTGTGT GTGATGTGTGTGTGTCTGTGGGGTGTATGTGTCTGCGTGTGTATTTGTGT CTGCATATGTGTGGTGTGTTTGCGTGTTTGGGTATGTATGTGTGTCTGTG TGATGTGTATGTGTGTCTGCATGTGTGGTGTGTGTGCATGTTTGTGTCTG TGTGTAGTGTGTGTATGTATCTCTGAATGTGTGTTGTGTCTGTGTGTGTA TTGTGTGTTTGTGTGTGGCATGTGTCCGCATGTGTGTTGTGTGTGTGTGT GTGGTGTGTCTGCATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02976.hp2 others(2): Show HG02895.hp1 HG02897.hp2 HG02976.hp2 NA19030.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 others(2): Show a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278	5	350	0.0143	571	c.99- others(588): Show c.99-11076_99-11075insTTCCATGTGTGTGTTTGCATATGTGGTA TGTGTGATGTGTGTGTGCATGTGTCTGTTTTGTGTTTGCATGTGTGTTTT GTGTGTGTGCCTGGAGGTGTGGTGTGTGTATGTGTACCTGTGTGTCTGTG TGTGTAATGTGTGTGGCTGCGTGTGTGGTGTTTGTGTGTCTGCGTGTGTG TGGTGTGTGTTGTGTGTTTGCCCGTGTGGTGGGTGTGTCTGTGTCTGCAT GTGTGTGGTGTGTGTGTCTGTATGTATGTTGTATATTTCTGTGTGCATGT GTGGTGTGTTTCTGTGTGTGATGTGTGTGTGTCTGTGGGGTGTATGTGTC TGCGTGTGTATTTGTGTCTGCATATGTGTGGTGTGTTTGCGTGTTTGGGT ATGTATGTGTGTCTGTGTGATGTGTATGTGTGTCTGCATGTGTGGTGTGT GTGCATGTTTGTGTCTGTGTGTAGTGTGTGTATGTATCTCTGAATGTGTG TTGTGTCTGTGTGTGTATTGTGTGTTTGTGTGTGGCATGTGTCCGCATGT GTGTTGTGTGTGTGTGTGTGGTGTGTCTGCATGTGTGTGGTGT	PHF2	ENSG00000197724.12	transcript	ENST00000359246.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRDM16_chr1_3064203_3443621	3351532	C C	CCTCCTCT others(564): Show CCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCGCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCAC CTCCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTTCCCCTCCCTCTCTCCC CTCCCTCTCTCCCCTCCCTCTTTCCCCCTCCCCCTCCTTCTCTCTCCCCT GCCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCT CTTTCTCTCCCTCCCTCTCCTTCCCCCTCCCTCCCACTCTCCCCCTCCCT CTCTCCCCCTTTCCCTCCCTCTCTCCCCCTCTCTCTCTTCTGCTCCTTCT CTCTCCCCCTTCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCAT CCCCTTCCTCTTTCTCTCCCTCTCTCTTCCCCTCCCTCCCTCTCTCCCCC TCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTCTCCCCTCCCTCTCCT CCCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTC CTTCTCTCTCCCCTCCCTCTCT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0019 a0002c0007t0019	a0002c0007t0019g0020 a0002c0007t0019g0020	1	210	0.0048	571	c.439 others(590): Show c.439-33619_439-33618insTCCTCTCTCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCCGCCCTCTCTCCCCCTCCCTCTC TCCCCCTCCCTCTCTCCCCCACCTCCCCCCTCCCTCTCTCCCCCTCCTTC TCTCTTCCCCTCCCTCTCTCCCCTCCCTCTCTCCCCTCCCTCTTTCCCCC TCCCCCTCCTTCTCTCTCCCCTGCCCTCTCTCCCCTCCCTCTCTGTCCCC CTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCCCTCTCCTTCCCCCT CCCTCCCACTCTCCCCCTCCCTCTCTCCCCCTTTCCCTCCCTCTCTCCCC CTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTTCCTCTCTCCCCTCCCTC TCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCTCTCTT CCCCTCCCTCCCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCTCCCCCT CCCTCTCTCCCCTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCTCCCTCTC TCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTCTC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar

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Search Results (Total: 10000 hits)