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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
DCDC2_chr6_24166755_24363059	24238180	G G	GGGAGGAA others(562): Show GGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAATGAAGG GAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAATGGAGGGAGGGAGGGA GGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGGGAGGGGG AGGGGAGTGGAAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGG GGAGGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGG GGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAA GGGGAGGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGG GAGACAGAGGGGAGGGGGAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	1	216	0.0046	569	c.923 others(588): Show c.923-33079_923-33078insTTCCCCCTCCCCTCTGTCTCCCCCTT CCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCTTCCCC TCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCT CCCCTCCCCCTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTCCCTC CCTCCCTCCATTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCA TTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DECR2_chr16_396885_417482	397716	G G	GTGAGGGA others(562): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01069.hp1 HG03017.hp2 HG00099.hp1 HG01069.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0128 a0001c0001t0001g0007 a0001c0001t0001g0128	3	367	0.0082	569	c.-42 others(580): Show c.-4248_-4247insTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4168		chr16	TogoVar
DIP2C_chr10_269201_694668	478383	G G	GGAGGGAG others(562): Show GGAGGGAGAGAAGATGGGAGGGGAGGGGAGGGGAGGGGAGAAGAGGGAGG GGAGGGAGGAGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGAGGGA GGGGAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAA GAAGGGAGGGGAGAAGGAGGGAGGGGAGAAGGGAGGGAGAAGGGAGGGAG AGAGGGAGGGGAGAAGAGGGAGGGGAGGGGAGGGGAGGGGAGAAGGAGGG GAGGGGAGGGTAGGGGAGGGGAGGGGAGGGGAAGGAGGGGAGGGAGGGGA GGGAGAAGGGAGGGGGGAGGGAGGGGAGGGGAGGGGAGGGAGGGGAGGGG AGGGGAGGAAGGAGGGGAGGGGAGAGGGAGGGGAGAAGGGAGGGAGGGAG GGGAGGGGAGGGGAGGGGAGGAGGGGAGGAGGGAGGGAGGGAGGGGAGAG GGAGGGAGAGAGGAGGAGAGAAGGAGAGGGGCGGGGCGGAGAGGGGCGGG GCGGAGAGGGGGGGCGGGGCGGGGCGCGGGCGGGGCAGGGAGGGGAGGGG CGAAGAGGGGAGGGGCAGAC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	88	0.0114	569	c.158 others(586): Show c.158-5835_158-5834insGTCTGCCCCTCCCCTCTTCGCCCCTCCC CTCCCTGCCCCGCCCGCGCCCCGCCCCGCCCCCCCTCTCCGCCCCGCCCC TCTCCGCCCCGCCCCTCTCCTTCTCTCCTCCTCTCTCCCTCCCTCTCCCC TCCCTCCCTCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCCTCC CTCCCTTCTCCCCTCCCTCTCCCCTCCCCTCCTTCCTCCCCTCCCCTCCC CTCCCTCCCCTCCCCTCCCCTCCCTCCCCCCTCCCTTCTCCCTCCCCTCC CTCCCCTCCTTCCCCTCCCCTCCCCTCCCCTACCCTCCCCTCCCCTCCTT CTCCCCTCCCCTCCCCTCCCCTCCCTCTTCTCCCCTCCCTCTCTCCCTCC CTTCTCCCTCCCTTCTCCCCTCCCTCCTTCTCCCCTCCCTTCTTCTCCCC TCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTCCCCTCCCTCTC CCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCTCCTCCCTCCCCTCCCTC TTCTCCCCTCCCCTCCCCTCCCCTCCCATCTTCTCTCCCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	478383	G G	GGAGGGGA others(562): Show GGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGAAGAAG GGAGAAGAAGGGAGTGGAGGGGAGGGGAGGGGAGGGGAGGGGTGGGGAGA AGAAGGGAGAAGAAGGGAGTGGAGGGGAGGGGAGGGGTGGGGAGGGGAGA AGAAGGGAGAAGAAGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGAGGAAGGGAGGGGAAGGGAGGGAGAGGAGGAGAGAA GGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGA GGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGC GGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGC GGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGA GGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCAGACGGGGAG GGGAGGGGCAGACGGGGAGGGGAGGGGCAGACGGGGAGGGGAGGGGCAGA CGGGGAGGGGAGGGGCAGAC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	88	0.0114	569	c.158 others(586): Show c.158-5835_158-5834insGTCTGCCCCTCCCCTCCCCGTCTGCCCC TCCCCTCCCCGTCTGCCCCTCCCCTCCCCGTCTGCCCCTCCCCTCCCCGT CTGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCC CCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCC CCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCT CCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCC CCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCTTCTCTCC TCCTCTCCCTCCCTTCCCCTCCCTTCCTCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCTTCTTCTCCCTTCTTCTCCCTTCTTCTCCCCT CCCCACCCCTCCCCTCCCCTCCACTCCCTTCTTCTCCCTTCTTCTCCCCA CCCCTCCCCTCCCCTCCCCTCCCCTCCACTCCCTTCTTCTCCCTTCTTCT CCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
ENTREP2_chr15_29115252_29575979	29131600	T T	TCACACAC others(562): Show TCACACACCCCAGCCCCCATCACCTCCCCCTCCACACACACCCCAGCCCC CATCACCTCCCCCTCCACACACACCCCAGCCCCCATCACCTCCCCCTCCA CACACACCCCAGCCCCCATCACCTCCCCCTCCACACACACCAGCCCCCCA CATCACCTCCCCCTCCTCCACACACACCAGCCGCCCAAATTGCCTCCCCC TTCACACACTCCATCCCCCCAAATCACCTCCCCTCGACACACCCCAGCCC CTCACATCACCTCCCCTCCACACACACCCCAGCCCCCCACATCACCTCCC CCTCCTCCACACACCCCAGCCCCCCACATCACCTCCCCCTCCTCCACACA CACCCCAGCCCCCCACATCACCTCCCCCTCCTCCACACACCCCAGGCCCC CCACATCGCCTCCCCCTCCACACACACCCCAGGCCCCCCACATCACCTCC CCCTCCACACACACCCCAGCCCCCCACATCACCTCCCCCTCCACACACAC CCCAGGCCCCCCACATCACCTCCCCCTCCTCCACACACACCCCAGGCCCC CACATCACCTCCCCCTCCTC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp1 HG03139.hp1 others(1): Show HG01891.hp1 HG02258.hp1 HG03139.hp1 NA19030.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0008 a0003c0007 a0003c0014 others(1): Show a0001c0008 a0003c0007 a0003c0014 a0007c0022	a0001c0008t0007 a0003c0007t0042 a0003c0014t0002 others(1): Show a0001c0008t0007 a0003c0007t0042 a0003c0014t0002 a0007c0022t0017	a0001c0008t0007g0115 a0003c0007t0042g0038 a0003c0014t0002g0067 others(1): Show a0001c0008t0007g0115 a0003c0007t0042g0038 a0003c0014t0002g0067 a0007c0022t0017g0043	4	125	0.0320	569	c.928 others(586): Show c.928-2737_928-2736insGAGGAGGGGGAGGTGATGTGGGGGCCTG GGGTGTGTGTGGAGGAGGGGGAGGTGATGTGGGGGGCCTGGGGTGTGTGT GGAGGGGGAGGTGATGTGGGGGGCTGGGGTGTGTGTGGAGGGGGAGGTGA TGTGGGGGGCCTGGGGTGTGTGTGGAGGGGGAGGCGATGTGGGGGGCCTG GGGTGTGTGGAGGAGGGGGAGGTGATGTGGGGGGCTGGGGTGTGTGTGGA GGAGGGGGAGGTGATGTGGGGGGCTGGGGTGTGTGGAGGAGGGGGAGGTG ATGTGGGGGGCTGGGGTGTGTGTGGAGGGGAGGTGATGTGAGGGGCTGGG GTGTGTCGAGGGGAGGTGATTTGGGGGGATGGAGTGTGTGAAGGGGGAGG CAATTTGGGCGGCTGGTGTGTGTGGAGGAGGGGGAGGTGATGTGGGGGGC TGGTGTGTGTGGAGGGGGAGGTGATGGGGGCTGGGGTGTGTGTGGAGGGG GAGGTGATGGGGGCTGGGGTGTGTGTGGAGGGGGAGGTGATGGGGGCTGG GGTGTGTGTGGAGGGGGAGGTGATGGGGGCTGGGGTGTGTG	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	7/10			chr15	TogoVar
FAM174C_chr19_1270530_1284228	1282666	A A	AGGGAGGA others(562): Show AGGGAGGAGGGAGGAGAGGAGGGTGTGAAGGGAGGAAGGAGGGGAGGAGA GGGAGGAGGGTGTGAAGGGAGGAGGGAGGAGAGGAGGGAGGGAGGAGGGT GTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGGTGTGAAGGGAGGAGG GAGGGAGGAGGGTGTGAAGGGGAAAGAGGGAGGGGAGGATTGGAAAGGGG AGGAAGGTGTAAAAGAGGGAGAGAGGAAGGAAGGGAGGGGGTATTAATGG GGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGGGTAGTATGAAGGGGG AAGGAAGGAGGGAGGGGAGAAGGGTGGGAAGGGGAGGAAGGAGAGAGGGA GGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGAGGTGGGAGGGAAGTA GGGAGGGGGAGGGAGGGGAAAGGTGTGAAGGGAAGGAGGGAGGGGAGGAG GGAGGGAGGAGGGTGTGAAGGGAGGAGGGGGAGGAGGGTGGGAGGGGGGT GGGAGGGTGGAGGGTTGTGTGGTGTGGGGTGGGGGGAGGTGGGTGTAGGG GGAGGGAGGGAGGGAGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0002 a0001c0003t0001g0002	1	254	0.0039	569	c.38 others(580): Show c.3889_*3890insGGGAGGAGGGAGGAGAGGAGGGTGTGAAGGGAGG AAGGAGGGGAGGAGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGAGAGGA GGGAGGGAGGAGGGTGTGAAGGGAGGAGGGAGGGGAGGAGGGTGTGAAGG TGTGAAGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGGAAAGAGGGAGGGG AGGATTGGAAAGGGGAGGAAGGTGTAAAAGAGGGAGAGAGGAAGGAAGGG AGGGGGTATTAATGGGGAAGAGAGTGGGAAGGGGGAGGAGGGAGGGGAGG GTAGTATGAAGGGGGAAGGAAGGAGGGAGGGGAGAAGGGTGGGAAGGGGA GGAAGGAGAGAGGGAGGGAGGGGAAGGTGTGAAGGGAAGGAGGGAGGGGA GGTGGGAGGGAAGTAGGGAGGGGGAGGGAGGGGAAAGGTGTGAAGGGAAG GAGGGAGGGGAGGAGGGAGGGAGGAGGGTGTGAAGGGAGGAGGGGGAGGA GGGTGGGAGGGGGGTGGGAGGGTGGAGGGTTGTGTGGTGTGGGGTGGGGG GAGGTGGGTGTAGGGGGAGGGAGGGAGGGAGGGTG	FAM174C	ENSG00000228300.14	transcript	ENST00000409293.6	protein_coding		3439		chr19	TogoVar
GAS6_chr13_113815549_113869076	113858544	C C	CATGTCTG others(562): Show CATGTCTGCTAGTATGTGCCTTTGTGTGTGCATGTCTGTGTGTGACTGTG TACATATGTGTACATGTCTGTGTGTGCCTATGTATGCATGTCTGTGTGTG ACTGTGTATGTACATCTATGTGAATGTGTGCATGTATGTGTACATGTCTG TTAGTATGTGTGTGCGTGTCATTATGCATGTGTGTACATGTCTGTGACTG TATGTATGTCTATGTGAATGTGTGCATGTATGTGTACATGTCTGTTAGTA TGTGTGTCATTATGCATGTGTACATGTCTGACTATGTAAGTCTATGTGAA TGTGTGCATGTATGTGTACATGTCTGTTAGTATGTGTGTGCGTGTCATGC ATGTGTGTACATGTCTGTGTGACTGTATGTCTATATGAATGTGTGCATGT ATGTATACATGTCTGTTAGCACGTGTGCCTTGTGTGTGCATGTCTGGACA GTGTGTGACTGTGTGTACGTATGTCTATGTGAATGTGTGCATGTATGTGT GTGCATGTCTGTCAGTGTGTGGCTGTGTGCTTACATATGTCTATGTGAAT GTGTGCATGTATGTGTACAT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0024 a0001c0017t0001g0024	1	143	0.0070	569	c.255 others(586): Show c.255+5030_255+5031insATGTACACATACATGCACACATTCACAT AGACATATGTAAGCACACAGCCACACACTGACAGACATGCACACACATAC ATGCACACATTCACATAGACATACGTACACACAGTCACACACTGTCCAGA CATGCACACACAAGGCACACGTGCTAACAGACATGTATACATACATGCAC ACATTCATATAGACATACAGTCACACAGACATGTACACACATGCATGACA CGCACACACATACTAACAGACATGTACACATACATGCACACATTCACATA GACTTACATAGTCAGACATGTACACATGCATAATGACACACATACTAACA GACATGTACACATACATGCACACATTCACATAGACATACATACAGTCACA GACATGTACACACATGCATAATGACACGCACACACATACTAACAGACATG TACACATACATGCACACATTCACATAGATGTACATACACAGTCACACACA GACATGCATACATAGGCACACACAGACATGTACACATATGTACACAGTCA CACACAGACATGCACACACAAAGGCACATACTAGCAGACAT	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	2/14			chr13	TogoVar
HOMEZ_chr14_23267422_23291132	23280710	T T	TTTTATTT others(562): Show TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0238 a0002c0002t0002g0238	1	394	0.0025	569	c.41- others(584): Show c.41-3524_41-3523insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
IGSF9B_chr11_133891438_133961968	133932577	G G	GACAGACA others(562): Show GACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAG GGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGT GGGAGAGCAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGA CAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACAC AGGGAAGCCAGGTGGGAGAGCAGACAGACAGACACAGGGAAGCCAGGTGG GAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACA GACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAG GGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGT GGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGA CAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAG ACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAG CCAGGTGGGAGAGCAGACAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02922.hp1 HG02970.hp1 others(2): Show HG02559.hp2 HG02922.hp1 HG02970.hp1 HG03098.hp2 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0121 a0001c0009t0002 a0001c0009t0024 a0001c0003t0121 a0001c0009t0002 a0001c0009t0024	a0001c0003t0121g0280 a0001c0009t0002g0176 a0001c0009t0024g0171 others(2): Show a0001c0003t0121g0280 a0001c0009t0002g0176 a0001c0009t0024g0171 a0001c0009t0024g0175 a0001c0009t0024g0177	5	362	0.0138	569	c.968 others(584): Show c.968-365_968-364insATGTCTGCTCTCCCACCTGGCTTCCCTGTG TCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCT GTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCC CACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTC CCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGT CTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGCTCT CCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCT TCCCTGTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCT GTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCT CTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGCTCTCCCACCTGGCTTC CCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGT CTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGT	IGSF9B	ENSG00000080854.16	transcript	ENST00000533871.8	protein_coding	7/19			chr11	TogoVar
IGSF9B_chr11_133891438_133961968	133932645	C C	CAGACAGA others(562): Show CAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAG ACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAG CCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAG AGCAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGAC AGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACACAGGGAAGCC AGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAG CAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAG ACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGG GAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTG GGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGAC ATACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACA GGGAAGCCAGGTGGGAGAGT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0067 a0001c0003t0067	a0001c0003t0067g0299 a0001c0003t0067g0299	1	362	0.0028	569	c.968 others(584): Show c.968-433_968-432insACTCTCCCACCTGGCTTCCCTGTGTCTGTC TGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTATGTCTGCTCTC CCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTT CCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTG TCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCT GCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACC TGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTG TGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGT CTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGCTCTCCCACCTG GCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTG TCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCT GCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCT	IGSF9B	ENSG00000080854.16	transcript	ENST00000533871.8	protein_coding	7/19			chr11	TogoVar
IGSF9B_chr11_133891438_133961968	133932883	G G	GACACAGG others(562): Show GACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAA GCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGA GAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGA CAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGAGACAGACACAG GGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGT GGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGA CAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACAC AGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAG GTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCA GACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGAGACAG ACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAG CCAGGTGGGAGAGCAGACAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0308 a0001c0001t0002g0308	1	362	0.0028	569	c.968 others(584): Show c.968-671_968-670insATGTCTGCTCTCCCACCTGGCTTCCCTGTG TCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTCTGT CTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCA CCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCC TGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCT GTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGCTCTCC CACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTC CCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGT CTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCT CTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGG CTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGT CTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGT	IGSF9B	ENSG00000080854.16	transcript	ENST00000533871.8	protein_coding	7/19			chr11	TogoVar
IQCJ_chr3_159064319_159268747	159229700	T T	TCTCCTCC others(562): Show TCTCCTCCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCAACCACC CTGTCCTCCTCCCCCACCCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCT CCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTC CTCCTCCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCT CCCCCACCTCCTCCTCCTCCCCCTCCTCGCTCCTCCCCCCTCCTCCTCTC CCCCCTCTCTCCCTCCCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTC TCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCC TCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCT CCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCC CCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCCCCCTCC TCCCTGTCTTCCTCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTC TTCCTCCCCCCACCCTCCCC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	252	0.0040	569	c.10- others(586): Show c.10-16142_10-16141insTCCTCCTCCTCCCCCCACCCACCCCTCC CCTCTCCTCCCCCAACCACCCTGTCCTCCTCCCCCACCCCCCCTCCCCCC TCCTCCCCCTCCCCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCC CATCCTCCTCCCACCTCCTCCTCCTCCCCCCCTCCCCGTCCTCCTCCCAC CTCCCCCTCCTCCTCCCCCTCCCCCACCTCCTCCTCCTCCCCCTCCTCGC TCCTCCCCCCTCCTCCTCTCCCCCCTCTCTCCCTCCCCCCCCCTCCTCCC CCCTCCTCCTCCTCCTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCT CCTCCCCCTCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCT CCTCCTCCCCCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCCCCCT CCTCCCCCTCCTCCTCCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCC ACCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCACCTCCCCCCTCC TCCCACTCCTCCTCCCCGTCTTCCTCCCCCCACCCTCCCCC	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(562): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCC ACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTC CCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCA CCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCC CCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTC CTCCTCCCCATTCTGCTCTCCTCCTCCCCCCCTCCTCCCCCCTCCTCCTC CCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCC TCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCT CCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGTCT TCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCCC CCACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp1 HG02965.hp2 HG01884.hp1 HG02451.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0078 a0001c0001t0001g0216 a0001c0001t0001g0005 a0001c0001t0001g0078 a0001c0001t0001g0216	3	252	0.0119	569	c.10- others(586): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCC ACCTCCTCCTCCTCCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTC CTCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCC TCCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTC CTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCCCTCCT CCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTC CCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCT CCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCC CCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTC CCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCC	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(562): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCC ACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTC CCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCAC CTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCC CCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTC CTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTC CCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCC TCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCGCT CCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGTCT TCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCCC CCACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	252	0.0040	569	c.10- others(586): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCC ACCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCC TCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCT CCTCCTCTCCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTC CTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCC TCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTC CCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCT CCCCCCTCCCCGCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCC CCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTC CCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCC	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(562): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCC ACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTC CCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCAC CTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCC CTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTCC TCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCTC CCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCC TCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCT CCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGTCT TCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCCC CCACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02027.hp2 HG02083.hp1 others(6): Show HG01192.hp1 HG02027.hp2 HG02083.hp1 HG03491.hp2 HG03579.hp2 HG03831.hp1 NA18962.hp2 NA18970.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0184 a0001c0001t0002g0025 a0001c0001t0002g0071 others(6): Show a0001c0001t0001g0184 a0001c0001t0002g0025 a0001c0001t0002g0071 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0198 a0001c0001t0002g0238	9	252	0.0357	569	c.10- others(586): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCC ACCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCC TCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCT CCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCC TGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCT CCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTC CCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCT CCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCC CCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTC CCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCC	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(562): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCC ACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTC CCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCAC CTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCC CTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTCC TCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCC CCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCC TCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCT CCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGTCT TCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCCC CCACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	252	0.0040	569	c.10- others(586): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCC ACCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCC TCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCT CCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCC TGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCT CCCCCTCCTCCTCCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTC CCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCT CCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCC CCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTC CCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCC	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(562): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCC ACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTC CCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCAC CTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCC CTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTCC TCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCC CCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCT CCTCCTCCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCT CCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGTCT TCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCCC CCACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0172	1	252	0.0040	569	c.10- others(586): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCC ACCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCC TCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCT CCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCC TGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCT CCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCC CCCCTCCTCCCCCTCCTCCTCCCCCCCTCCCCCCTCCTCCCCCTCCTCCT CCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCC CCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTC CCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCC	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(562): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCC ACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTC CCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCAC CTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCC CTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTCC TCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCC CCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCT CCTCCTCCCCCCTCCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCT CCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCTCCTCCCTGTCT TCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCCC CCACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	252	0.0040	569	c.10- others(586): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCCTCCCCATCCTCCTCCC ACCTCCTCCTCCTCCCCCCTCCCCGTCCTCCTCCCACCTCCCCCTCCTCC TCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCT CCTCCTCTCCCCCCCTCCTCTCCCCCCCTCCTCCCCCCTCCTCCTCCTCC TGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCT CCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCC CCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCCTCCTCCCCCTCCTCCT CCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCC CCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTC CCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(562): Show CTCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCTCTC TCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCC CCTCCCCCTCTCTCCCCTCCCCCTCCCCTCTCTCCCCCTCCCCCCCTCCC CCTCCCCCTCCCCCCTCCCCCCCTCTCCCCCTCCCCTCCCCCCTCTCTCT CCCCCTCTCTCTCCCCCTTCCCTCCCCCCTCTCCCCCTCCTCCTCCCCCC TCCCCCTCCCCCCATCCCCCTCCCCCGTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCATCCCCATCCCCCTCCTTCCCTCTCCCCCTCCCCCATCCCCAT CCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCT CCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCT CTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCT CTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCTTCCCTCTCTCTC TCTCCCCCTCCTTCCCCCTG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0037 a0002c0004t0003g0037	1	158	0.0063	569	c.11 others(590): Show c.1103+4103_*1103+4104insTCCCCCTCCCCTCCCCCTCTCTCT CCCCCTCCCCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTC TCTCTCCCCCTCCCCCCTCCCCCTCTCTCCCCTCCCCCTCCCCTCTCTCC CCCTCCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCCCTCTCCCCCTCCC CTCCCCCCTCTCTCTCCCCCTCTCTCTCCCCCTTCCCTCCCCCCTCTCCC CCTCCTCCTCCCCCCTCCCCCTCCCCCCATCCCCCTCCCCCGTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCATCCCCATCCCCCTCCTTCCCTCTCCCC CTCCCCCATCCCCATCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCC TCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCCCC CCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCC TCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCC CCTTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIF1A_chr2_240708767_240825219	240812886	C C	CGCCTTCA others(562): Show CGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTC GGGGATCCGCCTTCACCTCGGAGATCTGCCTTCACCTCGGGGATCCGCCT TCACCTCGGGGATCCGCCTTCACCTCGGGGATCTGCCTTCACCTCAAGGA TCCGCCTTCACCTCAAGGATCCACCTTCACCTCAGGGATCAGCCTTCACC TCGAGATCCACCTTCACCTCAGGCAGGGATCAGCCTTCACCTCAGGGATC CGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGATCTGCCTTCACCTCT GGGTCCGCCTTCACCTCAAGATCCACCTTCACCTCAGGGATCAGCCTTCA CCTCGGGGATCTGCCTTCACCTCGGGGATCAGCCATCACTCGGGGATCCG CCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGG GGATCCGCCTTCACCTCGGGGATCCGCCTTCACCTCGGGGATCCGCCTTC ACCTCGGGGATCCGCCTTCACCTCGGGGATCAGCCTTCACCTCGGGGATC CGCCTTCACCTCGGGGATCA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03579.hp1 HG03139.hp1 HG03579.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0007 a0001c0004t0005 a0001c0004t0007	a0001c0004t0005g0156 a0001c0004t0007g0155 a0001c0004t0005g0156 a0001c0004t0007g0155	2	330	0.0061	569	c.-61 others(586): Show c.-61+7235_-61+7236insTGATCCCCGAGGTGAAGGCGGATCCCCG AGGTGAAGGCTGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGG ATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTG AAGGCTGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCC CGAGTGATGGCTGATCCCCGAGGTGAAGGCAGATCCCCGAGGTGAAGGCT GATCCCTGAGGTGAAGGTGGATCTTGAGGTGAAGGCGGACCCAGAGGTGA AGGCAGATCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGATCCCTG AGGTGAAGGCTGATCCCTGCCTGAGGTGAAGGTGGATCTCGAGGTGAAGG CTGATCCCTGAGGTGAAGGTGGATCCTTGAGGTGAAGGCGGATCCTTGAG GTGAAGGCAGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGCGGAT CCCCGAGGTGAAGGCAGATCTCCGAGGTGAAGGCGGATCCCCGAGGTGAA GGCGGATCCCCGAGGTGAAGGCGGATCCCCGAGGTGAAGGC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	1/48			chr2	TogoVar
LHFPL3_chr7_104323603_104913561	104824168	T T	TATATATT others(562): Show TATATATTATATATATAATATATATATTATATATTATATATTATATATAT AATATATAATATTATATATTATATATAATATATATTATATATTATATATA TTATATTATATATTATATATATAATATATTATATATTATATATATTATAT AATATATTATATATAATTATATATATTTTATATATTATATATTATATATT ATATATTATATATATTATATATTATATATTATATATTATATATTATATAT ATTATATATTATATATTATATATACAATTATATATATTATATATATTATA TATTATATATAATATATAATATATAATATATTATATATATAATATATATA ATATATATAATTGTATATATAATATATAATATATAATATATATTATATAT TATATATTATATAATATATTATATATAATTATATATTATATAATATATTA TATATATAATATATATTATATAATATATATTATATAATATATTATATATA ATATATATTATATATTATATATTATATAATATATAATATATAATATATAT TATATATTATATATTATATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0035 a0001c0001t0009g0035	1	86	0.0116	569	c.683 others(588): Show c.683-81995_683-81994insATTATATATTATATATTATATATATA ATATATAATATTATATATTATATATAATATATATTATATATTATATATAT TATATTATATATTATATATATAATATATTATATATTATATATATTATATA ATATATTATATATAATTATATATATTTTATATATTATATATTATATATTA TATATTATATATATTATATATTATATATTATATATTATATATTATATATA TTATATATTATATATTATATATACAATTATATATATTATATATATTATAT ATTATATATAATATATAATATATAATATATTATATATATAATATATATAA TATATATAATTGTATATATAATATATAATATATAATATATATTATATATT ATATATTATATAATATATTATATATAATTATATATTATATAATATATTAT ATATATAATATATATTATATAATATATATTATATAATATATTATATATAA TATATATTATATATTATATATTATATAATATATAATATATAATATATATT ATATATTATATATTATATAATATATTATATATATAATATATAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LRRC24_chr8_144517388_144532033	144531191	A A	AGAGCAGC others(562): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACAT AGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGG GCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGT GGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGA GTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGC AGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCA GGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGG CACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACG GCAGAAGGGCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	398	0.0025	569	c.-42 others(580): Show c.-4292_-4291insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTGTG TCCAGTCCACACCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTG CCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTC	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4159		chr8	TogoVar
MBTPS1_chr16_84048763_84121942	84051532	C C	CCGCATGT others(562): Show CCGCATGTGGGTAAGGAGAGCTGCAAGGCCCACATGTGGGTAAGGAGAGT GGCAAGGCCCGCATGTGGGTAAGGAGAGCTACAAGGCCCGCATGTGCGTA AGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCCCATG TGGGTAAGGAGAGCTGCAAGGCCGTATGTGGGTAAGGAGAGCTGCAAGGC CGCATGTGGGTAAGGAGAGCTGCAAGGCCCGCATGTGGGTAAGGAGAGCG GCAAGGCCCGCATGTGCTTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAG GAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCCGCATGT GGGTAAGGAGAGCTGCAAGGCCCGCATGTGGGTAAGGAGAGCGGCAAGGC CCGCATGTGCTTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCT GCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGG AGAGCTGCAAGGCCCGCATGTGGGTAAGGAGAGCGGCAAGGCCCGCATGT GCTTAAGGAGAGCTGCAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA19085.hp1 NA18973.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0204 a0001c0002t0001g0205	2	424	0.0047	569	c.29 others(580): Show c.2916_*2917insCCTTGCAGCTCTCCTTAAGCACATGCGGGCCTTG CCGCTCTCCTTACCCACATGCGGGCCTTGCAGCTCTCCTTACCCACATGC GGCCTTGCAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCCTTACCC ACATGCGGCCTTGCAGCTCTCCTTAAGCACATGCGGGCCTTGCCGCTCTC CTTACCCACATGCGGGCCTTGCAGCTCTCCTTACCCACATGCGGGCCTTG CAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCCTTACCCACATGCG GCCTTGCAGCTCTCCTTAAGCACATGCGGGCCTTGCCGCTCTCCTTACCC ACATGCGGGCCTTGCAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTC CTTACCCACATACGGCCTTGCAGCTCTCCTTACCCACATGGGGCCTTGCA GCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCCTTACGCACATGCGGG CCTTGTAGCTCTCCTTACCCACATGCGGGCCTTGCCACTCTCCTTACCCA CATGTGGGCCTTGCAGCTCTCCTTACCCACATGCG	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		2230		chr16	TogoVar
MPPED1_chr22_43407014_43512848	43432754	A A	AGAGAGAG others(562): Show AGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGG AGGGGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAA GGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGA GAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAG AGAAAGGGAGGAGAGAGAGATGGAGGAGAGAGAGATAAAGGGAGGAGAGA GAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAG AGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGG AGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGA AAGGGAGGAGAGAGAGAGAAGGAGGAGAGAGAGAGAAAGGGAGGAGAGAG AGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGA GAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGA GGAGAGAGAGAGAAAGGGAG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0019 a0001c0005t0004g0019	1	250	0.0040	569	c.225 others(586): Show c.225-2277_225-2276insAGAGAAAGGGAGGAGAGAGAGAAAGGGA GGAGAGAGAGAGAAAGGGAGGGGAGAGAGAGGGAAAGAGAAAGGGAGGAG AGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAG AAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGA GAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGATGGAGGAGAGAG AGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGA GAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGA GGAGAGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAT AAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAG AGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG GAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MYOM2_chr8_2040046_2150456	2085831	G G	GCCTCCCA others(562): Show GCCTCCCACTGTCATGATCTCTGCGTGGCCCCCCACTGTCGTGATCTCTG CGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACAGTCGTGATC TCTTTGTGGCCCCCCACTGTCGTGATCTCCGCGTGGCCCCCCACAGTCGT GATCTCTGCGTGGCCTCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTG TCGTGATCTCCGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCTCCC ACAGTCGTGATCTCTTTGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCC TCCCACTGTCATGATCTCCGCGTGGCCCCCCACAGTCGTGATCTCCGCGT GGCCCCCCACTGTCGTGATCTCCGCGTGGCCCCCCACAGTCGTGATCTCT TTGTGGCCCCCCACTGTCGTGATCTCCGCGTGGCCCCCCACAGTCGTGAT CTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCTCCCACTGTCG TGATCTCCGCGTGGCCCCCCACAGTCGTGATCTCCGCGTGGCCCCCCACA GTCGTGATCTCCGCGTGGCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0004 a0004	a0004c0049 a0004c0049	a0004c0049t0001 a0004c0049t0001	a0004c0049t0001g0378 a0004c0049t0001g0378	1	403	0.0025	569	c.164 others(586): Show c.1644+443_1644+444insTCCCACTGTCATGATCTCTGCGTGGCCC CCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTG GCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCCG CGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCTCCCACAGTCGTGATC TCTTTGTGGCCCCCCACTGTCGTGATCTCCGCGTGGCCCCCCACAGTCGT GATCTCTGCGTGGCCTCCCACAGTCGTGATCTCTTTGTGGCCCCCCACAG TCGTGATCTCTGCGTGGCCTCCCACTGTCATGATCTCCGCGTGGCCCCCC ACAGTCGTGATCTCCGCGTGGCCCCCCACTGTCGTGATCTCCGCGTGGCC CCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCCGCGT GGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCT TTGTGGCCTCCCACTGTCGTGATCTCCGCGTGGCCCCCCACAGTCGTGAT CTCCGCGTGGCCCCCCACAGTCGTGATCTCCGCGTGGCCCC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(562): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATAC CGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCG TATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTA TATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATA TATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATA TACACAGTATGTATACCGTATATATACACAGTATGTATACTGTGTATGCA GTATGTATACAGTATACATACTGCATGCAGTATGTATACTGTATACATAC TGCATGCAGTATGTATACTGTATATATACACTATACAGTATGTATACTGT ATATATACACACAGTATGTATACTGTATATATACACACAGTATGTATACT GTATATATACACACAGTATGTATACTGTATATATACACACAGTATGTATA CTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0261 a0001c0001t0026g0261	1	362	0.0028	569	c.-75 others(588): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGTATGT ATACAGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCATA CACAGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATA CGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACG GTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGT ATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTAT ACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATAC ATACATACAGTATACATACATACAGTATACATACATACAGTATACATGCT GTACACAGTATACATGCTGTACACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NME4_chr16_392199_405754	397716	G G	GTGAGGGA others(562): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGGGGGGGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG01069.hp1 others(2): Show HG00099.hp1 HG00280.hp1 HG01069.hp1 HG03017.hp2 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0268 a0001c0002t0001g0008 a0001c0002t0001g0268	5	356	0.0140	569	c.91+ others(582): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGCTGAGGGAGTCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NT5DC3_chr12_103767310_103846234	103768604	G G	GGGGGAGG others(562): Show GGGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGAGGGAGAGGGAGGGGT AGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGGGGGAGGGAGAGGGAC AGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGGGAGAGGGAGAGGGAC AGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGG AGAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCAGGAGGG GAGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAGG GAGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGA GGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGG AGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGG GGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGA GAGGGAGAGAGAGGGAGAGGGAGAGAGAGGGAGAGGGAGTGAGAGAGAGA GGGAGAGAGAGGGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0226 a0001c0001t0003g0226	1	386	0.0026	569	c.92 others(580): Show c.9224_*9225insTCTCTCTCCCTCTCTCTCCCTCTCTCTCTCACTC CCTCTCCCTCTCTCTCCCTCTCCCTCTCTCTCCCTCTCCCTCCCCCTCTC CCTCTCCTTCTCCCTCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCT CCCCCATCCCTCTCCCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCC TCCCTCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCTCCCTCTCCCTC CCTCTCCCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCTCCCTCTC CCTCCCTCTCCCTGTCCCTCTCCCTCCCCCTCCCTCCCCTCCTGCCCCCT CCCTCTCTCTCCCCCCTCTCCCCCTCCCCTCCCTCTCCCCCCTCCCCTCC CTCTCCCTCTCTCCCTCCCTCTCTCTCCCTCTCCCTGTCCCTCTCCCTCT CCCTCTCCCTCCCTCTCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCC CCCCTCCCCCTCCCTCTCTGTCCCCCCTCTCCCCCTACCCCTCCCTCTCC CTCCCTCCCTGTCCCCCCTCTCCCCCTCCCTCCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3705		chr12	TogoVar
OLFM1_chr9_135082668_135126180	135119058	A A	ATCTTTGG others(562): Show ATCTTTGGAAGTGCTCACTGGGTCTTTGGAGTGCTCACCGGGCCTTTGGA AGTGCTCACCGGGTCTTTGGAGTACTCGTTGTCTCTTTGGAGTGCTCACC GAGTCTTTGGAGTACTTACCGGGTCTTTGGAGTACTCACTGGGTCTTTGG AGTGCTCGCTGTGTCTTTGGAGTACTCACTGGGTCTTTGGAGTGCTCACT GGGTCTTTGGAAGTGCTCACTGGATCTTTGGAGTACTCACTGGATCTTTG GAAGTGCTCACTGGGTCTTTGGAAGTGCTCACTGGGTCTTTGGAGTGCTC ACCGGGCCTTTGGAAGTGCTCACCAGGTCTTTGGAGTACTCATCGTGTCT TTGGAGTGCTCACCGAGTCTTTGGAGTACTCACCGGGTCTTTGGAGTACT CACTGGGTCTTTGGAGTGCTCACTGGGTCTTTGGAAGTGCTCACTGGGTC TTTGGAGTGCTTTCTGGGTCTTTGGAGTGCTCACTGGGTCTTTGGAGTGC TCAGTGGGTCTTTGGAGTACTCACTGGATCTTTGGAAGTGCTCACTGGAT CTTTGGAAGTGCTCACTGGG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01884.hp1 HG02280.hp1 others(9): Show HG01074.hp1 HG01884.hp1 HG02280.hp1 HG02486.hp1 HG02630.hp1 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03486.hp1 HG03516.hp1 NA18522.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0028 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0028 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0085 others(8): Show a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0085 a0001c0001t0001g0146 a0001c0001t0001g0187 a0001c0001t0001g0329 a0001c0001t0028g0194 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0002g0010	12	360	0.0333	569	c.784 others(584): Show c.784-365_784-364insCTCTTTGGAGTGCTCACCGAGTCTTTGGAG TACTTACCGGGTCTTTGGAGTACTCACTGGGTCTTTGGAGTGCTCGCTGT GTCTTTGGAGTACTCACTGGGTCTTTGGAGTGCTCACTGGGTCTTTGGAA GTGCTCACTGGATCTTTGGAGTACTCACTGGATCTTTGGAAGTGCTCACT GGGTCTTTGGAAGTGCTCACTGGGTCTTTGGAGTGCTCACCGGGCCTTTG GAAGTGCTCACCAGGTCTTTGGAGTACTCATCGTGTCTTTGGAGTGCTCA CCGAGTCTTTGGAGTACTCACCGGGTCTTTGGAGTACTCACTGGGTCTTT GGAGTGCTCACTGGGTCTTTGGAAGTGCTCACTGGGTCTTTGGAGTGCTT TCTGGGTCTTTGGAGTGCTCACTGGGTCTTTGGAGTGCTCAGTGGGTCTT TGGAGTACTCACTGGATCTTTGGAAGTGCTCACTGGATCTTTGGAAGTGC TCACTGGGTCTTTGGAAGTGCTCACTGGGTCTTTGGAGTGCTCACCGGGC CTTTGGAAGTGCTCACCGGGTCTTTGGAGTACTCGTTGT	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
OLFM1_chr9_135082668_135126180	135119058	A A	ATCTTTGG others(562): Show ATCTTTGGAAGTGCTCACTGGGTCTTTGGAGTGCTCACCGGGCCTTTGGA AGTGCTCACCGGGTCTTTGGAGTACTCGTTGTGTCTTTGGAGTGCTCACC GAGCCTTTGGAGTACTTACCGGGTCTTTGGAGTACTCACTGGGTCTTTGG AGTGCTCGCTGTGTCTTTGGAGTACTCACTGGGTCTTTGGAGTGCTCACT GGGTCTTTGGAAGTGCTCACTGGATCTTTGGAGTACTCACTGGATCTTTG GAAGTGCTCACTGGGTCTTTGGAAGTGCTCACTGGGTCTTTGGAGTGCTC ACCGGGCCTTTGGAAGTGCTCACCAGGTCTTTGGAGTACTCATCGTGTCT TTGGAGTGCTCACCGAGTCTTTGGAGTACTCACCGGGTCTTTGGAGTACT CACTGGGTCTTTGGAGTGCTCACTGGGTCTTTGGAAGTGCTCACTGGGTC TTTGGAGTGCTTTCTGGGTCTTTGGAGTGCTCACTGGGTCTTTGGAGTGC TCAGTGGGTCTTTGGAGTACTCACTGGATCTTTGGAAGTGCTCACTGGAT CTTTGGAAGTGCTCACTGGG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG03209.hp2 HG01167.hp1 HG01169.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0141 a0001c0001t0002g0145 a0001c0003t0001g0081 a0001c0001t0002g0141 a0001c0001t0002g0145 a0001c0003t0001g0081	3	360	0.0083	569	c.784 others(584): Show c.784-344_784-343insCCTTTGGAGTACTTACCGGGTCTTTGGAGT ACTCACTGGGTCTTTGGAGTGCTCGCTGTGTCTTTGGAGTACTCACTGGG TCTTTGGAGTGCTCACTGGGTCTTTGGAAGTGCTCACTGGATCTTTGGAG TACTCACTGGATCTTTGGAAGTGCTCACTGGGTCTTTGGAAGTGCTCACT GGGTCTTTGGAGTGCTCACCGGGCCTTTGGAAGTGCTCACCAGGTCTTTG GAGTACTCATCGTGTCTTTGGAGTGCTCACCGAGTCTTTGGAGTACTCAC CGGGTCTTTGGAGTACTCACTGGGTCTTTGGAGTGCTCACTGGGTCTTTG GAAGTGCTCACTGGGTCTTTGGAGTGCTTTCTGGGTCTTTGGAGTGCTCA CTGGGTCTTTGGAGTGCTCAGTGGGTCTTTGGAGTACTCACTGGATCTTT GGAAGTGCTCACTGGATCTTTGGAAGTGCTCACTGGGTCTTTGGAAGTGC TCACTGGGTCTTTGGAGTGCTCACCGGGCCTTTGGAAGTGCTCACCGGGT CTTTGGAGTACTCGTTGTGTCTTTGGAGTGCTCACCGAG	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
OLFM1_chr9_135082668_135126180	135119058	A A	ATCTTTGG others(562): Show ATCTTTGGAAGTGCTCACTGGGTCTTTGGAGTGCTCACCGGGCCTTTGGA AGTGCTCACCGGGTCTTTGGAGTACTCGTTGTGTCTTTGGAGTGCTCACC GAGTCTTTGGAGTACTTACCGGGTCTTTGGAGTACTCACTGGGTCTTTGG AGTGCTCGCTGTGTCTTTGGAGTACTCACTGGGTCTTTGGAGTGCTCACT GGGTCTTTGGAAGTGCTCACTGGATCTTTGGAGTACTCACTGGATCTTTG GAAGTGCTCACTGGGTCTTTGGAAGTGCTCACTGGGTCTTTGGAGTGCTC ACCGGGCCTTTGGAAGTGCTCACCAGGTCTTTGGAGTACTCATCGTGTCT TTGGAGTGCTCACCGAGTCTTTGGAGTACTCACCGGGTCTTTGGAGTACT CACTGGGTCTTTGGAGTGCTCACTGGGTCTTTGGAAGTGCTCACTGGGTC TTTGGAGTGCTTTCTGGGTCTTTGGAGTGCTCACTGGGTCTTTGGAGTGC TCAGTGGGTCTTTGGAGTACTCACTGGATCTTTGGAAGTGCTCACTGGAT CTTTGGAAGTGCTCACTGGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01070.hp2 HG01106.hp2 others(31): Show HG00323.hp2 HG01070.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01255.hp1 HG01261.hp1 HG01433.hp2 HG02004.hp2 HG02056.hp2 HG02080.hp1 HG02129.hp2 HG02155.hp1 HG02258.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02647.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02895.hp1 HG02970.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03540.hp2 HG03942.hp1 HG06807.hp1 NA19088.hp1 NA19088.hp2 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006	a0001c0001t0003 a0001c0001t0005 a0001c0002t0003 others(3): Show a0001c0001t0003 a0001c0001t0005 a0001c0002t0003 a0001c0003t0005 a0001c0005t0004 a0001c0006t0003	a0001c0001t0003g0013 a0001c0001t0003g0028 a0001c0001t0003g0149 others(30): Show a0001c0001t0003g0013 a0001c0001t0003g0028 a0001c0001t0003g0149 a0001c0001t0003g0166 a0001c0001t0003g0179 a0001c0001t0003g0182 a0001c0001t0003g0326 a0001c0001t0005g0029 a0001c0001t0005g0047 a0001c0001t0005g0049 a0001c0001t0005g0063 a0001c0001t0005g0078 a0001c0001t0005g0083 a0001c0001t0005g0096 a0001c0001t0005g0115 a0001c0001t0005g0189 a0001c0001t0005g0195 a0001c0001t0005g0330 a0001c0001t0005g0331 a0001c0001t0005g0332 a0001c0001t0005g0333 a0001c0002t0003g0030 a0001c0002t0003g0205 a0001c0002t0003g0207 a0001c0002t0003g0209 a0001c0002t0003g0231 a0001c0002t0003g0233 a0001c0002t0003g0245 a0001c0002t0003g0266 a0001c0003t0005g0198 a0001c0005t0004g0041 a0001c0005t0004g0136 a0001c0006t0003g0143	34	360	0.0944	569	c.784 others(584): Show c.784-226_784-225insGGATCTTTGGAGTACTCACTGGATCTTTGG AAGTGCTCACTGGGTCTTTGGAAGTGCTCACTGGGTCTTTGGAGTGCTCA CCGGGCCTTTGGAAGTGCTCACCAGGTCTTTGGAGTACTCATCGTGTCTT TGGAGTGCTCACCGAGTCTTTGGAGTACTCACCGGGTCTTTGGAGTACTC ACTGGGTCTTTGGAGTGCTCACTGGGTCTTTGGAAGTGCTCACTGGGTCT TTGGAGTGCTTTCTGGGTCTTTGGAGTGCTCACTGGGTCTTTGGAGTGCT CAGTGGGTCTTTGGAGTACTCACTGGATCTTTGGAAGTGCTCACTGGATC TTTGGAAGTGCTCACTGGGTCTTTGGAAGTGCTCACTGGGTCTTTGGAGT GCTCACCGGGCCTTTGGAAGTGCTCACCGGGTCTTTGGAGTACTCGTTGT GTCTTTGGAGTGCTCACCGAGTCTTTGGAGTACTTACCGGGTCTTTGGAG TACTCACTGGGTCTTTGGAGTGCTCGCTGTGTCTTTGGAGTACTCACTGG GTCTTTGGAGTGCTCACTGGGTCTTTGGAAGTGCTCACT	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCBP3_chr21_45638725_45947450	45909801	A A	ACCCACTG others(562): Show ACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGAC CCCCTCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGAT ACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACT GCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCA CCCACTGCCCAGATACGGACCCCCCCCCCGCCCACTGCCCAGATACGGAC CCCCCCCGCCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGAT ACGGACCTGGCCACCCACTGCCCAGATACGGACCCGGCCACCCACTGCCC AGATACAGACCCGGCCCACCCACTGCCCAGATATGGACCCCCCCAACCCA CTTCCCAGATACGGACCCCCCCACACACACTTCCCAGATACGGACCCCCC CACACACACTTCCCAGATACGGACCCCCCTCACCTGCTTCCCAAATATGG ACCTGGCCCACCCACTGCCCAGATACGGACCCCCCCCCGCCCACTGCCCA GATACGGACCCCCCCCCCCG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0113 a0001c0001t0008g0113	1	292	0.0034	569	c.471 others(584): Show c.471+337_471+338insCCCCCCACCCACTGCCCAGATACGGACCCC CTCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACG GACCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCC CAGATACGGACCCGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCC ACTGCCCAGATACGGACCCCCCCCCCGCCCACTGCCCAGATACGGACCCC CCCCGCCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACG GACCTGGCCACCCACTGCCCAGATACGGACCCGGCCACCCACTGCCCAGA TACAGACCCGGCCCACCCACTGCCCAGATATGGACCCCCCCAACCCACTT CCCAGATACGGACCCCCCCACACACACTTCCCAGATACGGACCCCCCCAC ACACACTTCCCAGATACGGACCCCCCTCACCTGCTTCCCAAATATGGACC TGGCCCACCCACTGCCCAGATACGGACCCCCCCCCGCCCACTGCCCAGAT ACGGACCCCCCCCCCCGCCCACTGCCCAGATACGGACCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45910079	A A	ACCACTGC others(562): Show ACCACTGCCCAGATATGGACCTGGCCCACCCACTGCCCAGATACGGACCC CCCCCACCCACTGCCCAGATATGGACCCCCCCCCACCCACTGCCCAGATA CGGACCCCCCCCACCCACTGCCCAGATATGGACCCCCCCCCACCCACTGC CCAGATACGGACCCCCCCCACCCACTGCCCAGATATGGACCTGGCCACCC ACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCC CGCCACCCACTGCCCAGATATGGACCTGGCCACCCACTGCCCAGATACGG ACCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCACCCACTGCC CAGATACGGACCCGGCCACCCACTGCCCAGATACGGACCCCCCGCCACCC ACTGCCCAGATACGGACCCCCCCCCCACCCACTGCCCAGATACGGACCCC CCCCCACCCACTGCCCAGATACGGACCCCCCCCCCACCCACTGCCCAGAT ACGGACCCGGCCACCCACTGCCCAGATATGGACCTGGCCCACCCACTGCC CAGATACGGACCCCCCCCAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0016 a0001c0002t0004g0016	1	292	0.0034	569	c.471 others(584): Show c.471+607_471+608insTGGACCTGGCCCACCCACTGCCCAGATACG GACCCCCCCCACCCACTGCCCAGATATGGACCCCCCCCCACCCACTGCCC AGATACGGACCCCCCCCACCCACTGCCCAGATATGGACCCCCCCCCACCC ACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATATGGACCTGGC CACCCACTGCCCAGATACGGACCCCCCCCCACCCACTGCCCAGATACGGA CCCCCCGCCACCCACTGCCCAGATATGGACCTGGCCACCCACTGCCCAGA TACGGACCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCACCCA CTGCCCAGATACGGACCCGGCCACCCACTGCCCAGATACGGACCCCCCGC CACCCACTGCCCAGATACGGACCCCCCCCCCACCCACTGCCCAGATACGG ACCCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCCACCCACTGCC CAGATACGGACCCGGCCACCCACTGCCCAGATATGGACCTGGCCCACCCA CTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATA	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PNPLA7_chr9_137454952_137555402	137503786	G G	GAAAAAAG others(562): Show GAAAAAAGAAGAGAGAAGAAGAAAGAAATAGAAAGAAGAAGGGAGAAGGA AGAAGGAAGAAGAAAGAAGAAGAAGGAAGAAGAAGGAAGAAGAAGCAGAA AGAAGAAGAAGAAGGAAGAAGGAGGAAGAAGGAAGAAGAAGGAAGAAGGA AGAAGAAGAAGGAAGAAGGAAAAAGAAGGAAGAAAAAGAAGGAAGAAAGA AGAAGAATGAAGAAGAAGAAAGAAGAGGAAGAAGGAAGAAGAAAGAAGAA GGAAGAAGAAGGAAGAAGGAAGGAGAAGGAAGAAGGAAGAAAGAAGAAGA AGGAAGAAGGAAGAAGAAGGAAGAAGGAACAAGAAGGAAGAAAAAGAAGG AAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAAAGAAGAAGGAAGAAGAAG AAAGAAAGAAGAAAGAAGAAGAAAGAAGAAAGGAAGAAGAAAAAAGGAAG AGGAAGAAAAGAAGAAGGAAGAAGAAAGAAGGAAGAAGAAGAAGGAAGAA GGAAGAAGAAGGAAGAAGAAGGAAGAAGGAAGAAGAAGAAGGAAGAAGAA GGAAGAAGGAAGAAGAAGGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02723.hp2 HG03540.hp1 HG02280.hp2 HG02723.hp2 HG03540.hp1	a0013 a0020 a0022 a0013 a0020 a0022	a0013c0023 a0020c0055 a0022c0053 a0013c0023 a0020c0055 a0022c0053	a0013c0023t0001 a0020c0055t0001 a0022c0053t0001 a0013c0023t0001 a0020c0055t0001 a0022c0053t0001	a0013c0023t0001g0178 a0020c0055t0001g0177 a0022c0053t0001g0154 a0013c0023t0001g0178 a0020c0055t0001g0177 a0022c0053t0001g0154	3	188	0.0160	569	c.147 others(588): Show c.1473+1827_1473+1828insTCCTTCTTCTTCCTTCTTCCTTCTTC TTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCCTTCTTCTTCCTTCTTC CTTCTTCTTCTTCCTTCTTTCTTCTTCCTTCTTCTTTTCTTCCTCTTCCT TTTTTCTTCTTCCTTTCTTCTTTCTTCTTCTTTCTTCTTTCTTTCTTCTT CTTCCTTCTTCTTTCTTCTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTCT TTTTCTTCCTTCTTGTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTCTTCT TCTTTCTTCCTTCTTCCTTCTCCTTCCTTCTTCCTTCTTCTTCCTTCTTC TTTCTTCTTCCTTCTTCCTCTTCTTTCTTCTTCTTCATTCTTCTTCTTTC TTCCTTCTTTTTCTTCCTTCTTTTTCCTTCTTCCTTCTTCTTCTTCCTTC TTCCTTCTTCTTCCTTCTTCCTCCTTCTTCCTTCTTCTTCTTCTTTCTGC TTCTTCTTCCTTCTTCTTCCTTCTTCTTCTTTCTTCTTCCTTCTTCCTTC TCCCTTCTTCTTTCTATTTCTTTCTTCTTCTCTCTTCTTTTTT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137503786	G G	GAAAAAAG others(562): Show GAAAAAAGAAGAGAGAAGAAGAAAGAAATAGAAGAAGGGAGAAGGAAGAA GGAAGAAGAAAGAAGAAGAAGGAAGAAGAAGGAAGAAGAAGCAGAAAGAA GAAGAAGAAGGAAGAAGGAGGAAGAAGGAAGAAGAAGGAAGAAGGAAGAA GAAGAAGGAAGAAGGAAAAAGAAGGAAGAAAAAGAAGGAAGAAAGAAGAA GGAAGAAGAAGAAAGAAGAAGAAGAAGGAAGAAGGAAGAAGAAAGAAGAA GGAAGAAGAAGGAAGAAGGAAGCAGAAGGAAGAAGGAAGAAAGAAGAAGG AAGAAGGAAGAAGAAGGAAGAAGGAACAAGAAGGAAGAAAAAGAAGGAAG AAGGAAGAAGAAGGAAGAAGGAAGAAGAAAGAAGAAGGAAGAAGAAGAAA GAAAGAAGAAAGAAAGAAGAAGAAGAAAGAAGAAAGGAAGAAGAAAAAAG GAAGAGGAAGAAAAGAAGAAGGAAGAAGAAAGAAGGAAGAAGAAGAAGGA AGAAGGAAGAAGAAGAAGGAAGAAGGAAGAAGAAGAAGGAAGAAGAAGAA GGAAGAAGGAAGAAGAAGGA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02083.hp2 NA19064.hp2 HG02040.hp1 HG02083.hp2 NA19064.hp2	a0002 a0006 a0002 a0006	a0002c0004 a0006c0009 a0002c0004 a0006c0009	a0002c0004t0001 a0006c0009t0001 a0002c0004t0001 a0006c0009t0001	a0002c0004t0001g0032 a0006c0009t0001g0005 a0006c0009t0001g0017 a0002c0004t0001g0032 a0006c0009t0001g0005 a0006c0009t0001g0017	3	188	0.0160	569	c.147 others(588): Show c.1473+1827_1473+1828insTCCTTCTTCTTCCTTCTTCCTTCTTC TTCTTCCTTCTTCTTCTTCCTTCTTCCTTCTTCTTCTTCCTTCTTCCTTC TTCTTCTTCCTTCTTTCTTCTTCCTTCTTCTTTTCTTCCTCTTCCTTTTT TCTTCTTCCTTTCTTCTTTCTTCTTCTTCTTTCTTTCTTCTTTCTTTCTT CTTCTTCCTTCTTCTTTCTTCTTCCTTCTTCCTTCTTCTTCCTTCTTCCT TCTTTTTCTTCCTTCTTGTTCCTTCTTCCTTCTTCTTCCTTCTTCCTTCT TCTTTCTTCCTTCTTCCTTCTGCTTCCTTCTTCCTTCTTCTTCCTTCTTC TTTCTTCTTCCTTCTTCCTTCTTCTTCTTCTTTCTTCTTCTTCCTTCTTC TTTCTTCCTTCTTTTTCTTCCTTCTTTTTCCTTCTTCCTTCTTCTTCTTC CTTCTTCCTTCTTCTTCCTTCTTCCTCCTTCTTCCTTCTTCTTCTTCTTT CTGCTTCTTCTTCCTTCTTCTTCCTTCTTCTTCTTTCTTCTTCCTTCTTC CTTCTCCCTTCTTCTATTTCTTTCTTCTTCTCTCTTCTTTTTT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(562): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGATCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC ACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCAGCCCCCC GCACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCG CCTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGG GAGGGAGGCGCGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	204	0.0049	569	c.880 others(586): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGG GGCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGC TGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCT GACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GATCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RNF213_chr17_80255852_80403794	80274587	T T	TGGGGGGG others(562): Show TGGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGG GGTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGAGTG GGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGA GTGTGGGGGGTGAGTGGGGTGAGTGGGGTGAATGTGGGGTGAGTGGGGTG AGTGTGGGGGGTGAGTGGGGTGATGGGGGTGAGTGGGGTGAGTGTGGGGG GTGAGCGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGAGTGAGTGG GGTGAGTGTGGGGTGATGGGGTGAGTGTGGGGGGTGAGGGGGGTGAGTGG GGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAG TGTGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGA GTGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTG AGTGTGTGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTG GGGGGTGAGTGGGGTGAGTG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0083 a0083	a0083c0084 a0083c0084	a0083c0084t0031 a0083c0084t0031	a0083c0084t0031g0159 a0083c0084t0031g0159	1	292	0.0034	569	c.261 others(586): Show c.261+1189_261+1190insGTGAGTGGGGTGAGTGTGGGGGGTGAGT GGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTG AGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGG GGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGTGAATGT GGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGATGGGGGTGAGTG GGGTGAGTGTGGGGGGTGAGCGGGGTGAGTGTGGGGGGTGAGTGGGGTGA GTGGGGAGTGAGTGGGGTGAGTGTGGGGTGATGGGGTGAGTGTGGGGGGT GAGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGG GGTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGG GTGTCTGGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGTGG GGGGTGAGTGGGGTGAGTGTGTGGGGTGAGTGGGGTGTCTGTGGGGGGTG AGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80274587	T T	TGGGGGGT others(562): Show TGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGG GTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGG GGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAG TGTGGGGGGTGAGTGGGGTGAGTGGGGTGAATGTGGGGTGAGTGGGGTGA GTGTGGGGGGTGAGTGGGGTGATGGGGGTGAGTGGGGTGAGTGTGGGGGG GTGAGCGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGAGTGAGTGG GGTGAGTGTGGGGTGATGGGGTGAGTGTGGGGGGTGAGGGGGGTGAGTGG GGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAG TGTGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGA GTGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTG AGTGTGTGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTG GGGGGTGAGTGGGGTGAGTG	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA19010.hp2 NA18957.hp2 NA19010.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0002 a0001c0006 a0002c0002	a0001c0006t0010 a0002c0002t0003 a0001c0006t0010 a0002c0002t0003	a0001c0006t0010g0119 a0002c0002t0003g0111 a0001c0006t0010g0119 a0002c0002t0003g0111	2	292	0.0069	569	c.261 others(586): Show c.261+1222_261+1223insAGTGTGGGGGGTGAGTGGGGTGAGTGTG GGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGG TGAGTGGGGTGAATGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGG GTGATGGGGGTGAGTGGGGTGAGTGTGGGGGGGTGAGCGGGGTGAGTGTG GGGGGTGAGTGGGGTGAGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGATG GGGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTG AGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAGTGGGGTGAGTGGGGGGT GAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGTGGGGTGAGTGG GGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAG TGGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80274587	T T	TGGGGGGT others(562): Show TGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGG GTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGG GGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAG TGTGGGGGGTGAGTGGGGTGAGTGGGGTGAATGTGGGGTGAGTGGGGTGA GTGTGGGGGGTGAGTGGGGTGATGGGGGTGAGTGGGGTGAGTGTGGGGGG TGAGCGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGAGTGAGTGGG GTGAGTGTGGGGTGATGGGGTGAGTGTGGGGGGTGAGGGGGGGTGAGTGG GGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAG TGTGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGA GTGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTG AGTGTGTGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTG GGGGGTGAGTGGGGTGAGTG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0072 a0001c0004t0072	a0001c0004t0072g0164 a0001c0004t0072g0164	1	292	0.0034	569	c.261 others(586): Show c.261+1222_261+1223insAGTGTGGGGGGTGAGTGGGGTGAGTGTG GGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGG TGAGTGGGGTGAATGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGG GTGATGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGCGGGGTGAGTGTGG GGGGTGAGTGGGGTGAGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGATGG GGTGAGTGTGGGGGGTGAGGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTG AGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAGTGGGGTGAGTGGGGGGT GAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGTGGGGTGAGTGG GGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAG TGGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80274587	T T	TGGGGGGT others(562): Show TGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGG GTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGG GGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAG TGTGGGGGGTGAGTGGGGTGAGTGGGGTGAATGTGGGGTGAGTGGGGTGA GTGTGGGGGGTGAGTGGGGTGATGGGGGTGAGTGGGGTGAGTGTGGGGGG TGAGCGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGAGTGAGTGGG GTGAGTGTGGGGTGATGGGGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGG GTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGT GTGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAG TGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGA GTGTGTGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGG GGGGTGAGTGGGGTGAGTGG	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	292	0.0034	569	c.261 others(586): Show c.261+1222_261+1223insAGTGTGGGGGGTGAGTGGGGTGAGTGTG GGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGG TGAGTGGGGTGAATGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGG GTGATGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGCGGGGTGAGTGTGG GGGGTGAGTGGGGTGAGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGATGG GGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAG TGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGA GTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAGTGGGGTGAGTGGGGGGTG AGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGTGGGGTGAGTGGG GTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGT GGGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80274587	T T	TGGGGGGT others(562): Show TGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGG GTGAGTGGGGTGAGTGTGGGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGG GGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGTGAGTGGGGTGAGT GTGGGGGGTGAGTGGGGTGAGTGGGGTGAATGTGGGGTGAGTGGGGTGAG TGTGGGGGGTGAGTGGGGTGATGGGGGTGAGTGGGGTGAGTGTGGGGGGT GAGCGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGAGTGAGTGGGG TGAGTGTGGGGGTGATGGGGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGG GTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGT GTGGGGGTGAGTGGGGTGAGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGA GTGGGGTGAGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTG AGTGTGTGGGGTGAGTGGGGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTG GGGGGTGAGTGGGGTGAGTG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0145 a0002c0002t0004g0145	1	292	0.0034	569	c.261 others(586): Show c.261+1222_261+1223insAGTGTGGGGGGTGAGTGGGGTGAGTGTG GGGAGTGAGTGGGGTGAGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGA GTGGGGTGAGTGTGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGT GAGTGGGGTGAATGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGG TGATGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGCGGGGTGAGTGTGGG GGGTGAGTGGGGTGAGTGGGGAGTGAGTGGGGTGAGTGTGGGGGTGATGG GGTGAGTGTGGGGGGTGAGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGAG TGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGTGAGTGGGGTG AGTGGGGGGTGAGTGGGGTGTCTGGGGGGTGAGTGGGGTGAGTGGGGGGT GAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGTGTGGGGTGAGTGG GGTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAG TGGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
SCUBE1_chr22_43192280_43348372	43339972	A A	AAAGCATA others(562): Show AAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTACCCCCCCCCC ACAAGCACTGCTCCAACCCTCCCCCACTCTCCTCATTCTACCCCCCACAA GCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTACCCCCCACAAGCAT TGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATTG CTTCAACCCTCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATCACTC CAACCCTCCCCTACTCTCCTCACTCTATCCCCCCACAAGCATCACTCCAA CCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATCACTCCAGCC CTCCCCTACTCTCCTCATTCTATCCCCCCACAAGCATTGCTCCAACCCTC CCCTACTCTCCTCACTCTATCCCCCCACAAGCATCACTCCAACCCTCCCC CCACTCTCCTCATTCTATCCCCCCACAAGCATCACTCCAGCCCTCCCCTA CTCTCCTCATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCCACTC TCCTCATTCTATCCCCCCAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0095 a0002c0002t0095	a0002c0002t0095g0278 a0002c0002t0095g0278	1	280	0.0036	569	c.89- others(582): Show c.89-738_89-737insGTGGGGGGATAGAATGAGGAGAGTGGGGGAGG GTTGGAGCAATGCTTGTGGGGGGATAGAATGAGGAGAGTAGGGGAGGGCT GGAGTGATGCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGG AGTGATGCTTGTGGGGGGATAGAGTGAGGAGAGTAGGGGAGGGTTGGAGC AATGCTTGTGGGGGGATAGAATGAGGAGAGTAGGGGAGGGCTGGAGTGAT GCTTGTGGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGTGATGC TTGTGGGGGGATAGAGTGAGGAGAGTAGGGGAGGGTTGGAGTGATGCTTG TGGGGGGATAGAATGAGGAGAGTGGGGGAGGGTTGAAGCAATGCTTGTGG GGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCAATGCTTGTGGGG GGTAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGGGTA GAATGAGGAGAGTGGGGGAGGGTTGGAGCAGTGCTTGTGGGGGGGGGGTA GAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTT	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SDK1_chr7_3296252_4274000	3976523	G G	GGGTCCTC others(562): Show GGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAG AGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCA GAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGC AGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCAC GCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCC ACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGC CACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTG CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCAGGGCTGAGGC TGCGAGGCTACCACACAGAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0004 a0004	a0004c0057 a0004c0057	a0004c0057t0013 a0004c0057t0013	a0004c0057t0013g0045 a0004c0057t0013g0045	1	116	0.0086	569	c.199 others(588): Show c.1994+2071_1994+2072insCACGCAGAGGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAG AGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCA GAGAATCACTGGGGGTCCCAGGGCTGAGGCTGCGAGGCTACCACACAGAC GGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGA GGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(562): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCC CACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCCC CTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCT CCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCA CCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCC CCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0060 a0001c0001t0019g0060	1	150	0.0067	569	c.77- others(586): Show c.77-45374_77-45373insTCCCCTCCCCCTCCCCTCCCCTCCCCTA CCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCC CCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCC CTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCC CCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCA TCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCC CTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(562): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCACCCCTCCCCCCTCCCC CTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCATC CCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCA CCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCC CCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0020 a0001c0001t0008g0020	1	150	0.0067	569	c.77- others(586): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCACCCCTCCCCC CTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCCTC CCCATCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCCCC TCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCC CTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(562): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCACCCCTTCCCCCTCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCTCCCCCTC CCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCCCCCCCTCCCCCCTCC CCATCCCCTCCCCATCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCA CCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCC CCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0025 a0002c0002t0004g0025	1	150	0.0067	569	c.77- others(586): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCACCCCTTCCCCCTCCCACCCCTTCCCCCTC CCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCTC CCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCCCCCCCTCCC CCCTCCCCATCCCCTCCCCATCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCC CTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(562): Show CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCC CACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCC CCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCCC CTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCT CCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCA CCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCC CCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0091 a0001c0001t0016g0091	1	158	0.0063	569	c.22+ others(586): Show c.22+36337_22+36338insTCCCCTCCCCCTCCCCTCCCCTCCCCTA CCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCC CCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCC CTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCC CCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCA TCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCC CTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(562): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCACCCCTCCCCCCTCCCC CTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCATC CCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCA CCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCC CCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0074 a0001c0001t0053g0074	1	158	0.0063	569	c.22+ others(586): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCACCCCTCCCCC CTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCCTC CCCATCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCCCC TCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCC CTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(562): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCACCCCTTCCCCCTCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCTCCCCCTC CCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCCCCCCCTCCCCCCTCC CCATCCCCTCCCCATCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCA CCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCC CCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0117 a0002c0002t0003g0117	1	158	0.0063	569	c.22+ others(586): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCACCCCTTCCCCCTCCCACCCCTTCCCCCTC CCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCTC CCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCCCCCCCTCCC CCCTCCCCATCCCCTCCCCATCCCTCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCC CTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC16A3_chr17_82224042_82245086	82227685	C C	CACCACCC others(562): Show CACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCAC CCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCC TGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCG GGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCA CCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCC GCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTG GGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGG AGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACC ACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGC CCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGG CGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAG CACCACCCGCCCTGGGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0227 a0001c0001t0006g0227	1	410	0.0024	569	c.-14 others(580): Show c.-1448_-1447insACCACCCGCCCTGGGCGGGAGCACCACCCGCCCT GGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGG GAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCAC CACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCG CCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGG GCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGA GCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCA CCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCC CTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGC GGGAGCACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGC ACCACCCGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGGAGCACCACC CGCCCTGGGCGGGAGCACCACCCGCCCTGGGCGGG	SLC16A3	ENSG00000141526.18	transcript	ENST00000582743.6	protein_coding		1356		chr17	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)